AiPD: Autoinhibited Protein Database

Q13576

Gene name	IQGAP2
Protein name	Ras GTPase-activating-like protein IQGAP2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10788
EC number
Protein Class

Descriptions

Ras GTPase-activating-like protein IQGAP1 plays a crucial role in regulating the dynamics and assembly of the actin cytoskeleton. IQGAP1 binds directly nucleotide-depleted Cdc42 (Cdc42-ND) and may serve as a negative effector or sequester nucleotide-free Cdc42 to prevent signaling. The regions C1 (956-1274) and C2 (1276-1657) of IQGAP1 can either interact with nucleotide-free Cdc42, or interact together, depending on the phosphorylation state of Ser-1443. When Ser-1443 is not phosphorylated, C1 and C2 interact, which prevents binding of nucleotide-free Cdc42 and promotes binding of GTP-bound Cdc42. The phosphorylation of Ser-1443 prevents interaction between C1 and C2, which opens the structure of the C-terminus and allows binding and sequestration of nucleotide-free Cdc42 on both C1 and C2.

Autoinhibitory domains (AIDs)

1189-1575 (C2 fragments) SS

Target domain	869-1187 (C1 fragments)
Relief mechanism	PTM
Assay

AID

1189-1575 (C2 fragments)

Target domain

869-1187 (C1 fragments)

Relief mechanism

PTM (Phosphorylation at Ser-1443)

Assay

Accessory elements

No accessory elements

References

Grohmanova K et al. (2004) "Phosphorylation of IQGAP1 modulates its binding to Cdc42, revealing a new type of rho-GTPase regulator", The Journal of biological chemistry, 279, 48495-504

Brandt DT et al. (2007) "Get to grips: steering local actin dynamics with IQGAPs", EMBO reports, 8, 1019-23

Autoinhibited structure

Activated structure

4 structures for Q13576

Entry ID	Method	Resolution	Chain	Position	Source
3IEZ	X-ray	150 A	A/B	1476-1571	PDB
4EZA	X-ray	150 A	A/B	1476-1571	PDB
5CJP	X-ray	260 A	E/F	875-1258	PDB
AF-Q13576-F1	Predicted				AlphaFoldDB

1582 variants for Q13576

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs866808149	2	P>S		No	TOPMed
rs866808149	2	P>T		No	TOPMed
rs1439755496	3	H>Q		No	TOPMed gnomAD
TCGA novel	3	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1750627157	4	E>*		No	TOPMed
rs1750627315	4	E>G		No	gnomAD
rs1208609108	5	E>A		No	TOPMed gnomAD
rs747881615	7	P>L		No	ExAC TOPMed gnomAD
rs747881615	7	P>Q		No	ExAC TOPMed gnomAD
rs1750628459	8	S>L		No	TOPMed gnomAD
rs1750628959	11	R>G		No	gnomAD
rs906755313	12	P>L		No	TOPMed gnomAD
rs906755313	12	P>R		No	TOPMed gnomAD
rs569312379	12	P>S		No	1000Genomes ExAC TOPMed gnomAD
RCV000904186 rs569312379	12	P>T		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs866148017	13	R>C		No	TOPMed gnomAD
rs754088569	13	R>H		No	ExAC TOPMed gnomAD
rs866148017	13	R>S		No	TOPMed gnomAD
rs1374951174	15	G>S		No	TOPMed
rs1417971425	15	G>V		No	TOPMed gnomAD
rs1398034036	16	S>P		No	gnomAD
rs1394726461	17	I>L		No	TOPMed gnomAD
COSM1486980	17	I>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1431069501	17	I>T		No	TOPMed gnomAD
rs1394726461	17	I>V		No	TOPMed gnomAD
rs1462750601	18	V>A		No	gnomAD
rs1295638643	19	D>H		No	gnomAD
rs1295638643	19	D>N		No	gnomAD
rs905393597	19	D>V		No	Ensembl
rs758140096	20	D>E		No	ExAC TOPMed gnomAD
rs778649304	20	D>H		No	ExAC gnomAD
COSM1197661 rs778649304	20	D>N	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs148247178	20	D>V		No	ESP ExAC TOPMed gnomAD
rs777521275	21	E>G		No	ExAC gnomAD
rs1754458369	22	R>M		No	Ensembl
rs757057258	22	R>S		No	ExAC gnomAD
rs975133664	24	S>P		No	TOPMed
rs1754458774	25	A>V		No	TOPMed
rs1179691166	26	E>D		No	TOPMed
rs1754459102	26	E>K		No	gnomAD
COSM3617921	27	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs745311243	28	M>I		No	ExAC gnomAD
rs780952903	28	M>T		No	ExAC gnomAD
TCGA novel	29	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1754459595	30	E>K		No	gnomAD
rs1358022971	31	R>G		No	TOPMed gnomAD
rs369302838 COSM6104294 COSM593421	33	R>L	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs369302838	33	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs769416675	33	R>W		No	ExAC TOPMed gnomAD
COSM261436	34	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1312932906	35	N>K		No	TOPMed gnomAD
rs762297303	36	I>V		No	ExAC gnomAD
TCGA novel	37	A>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1008095274	37	A>P		No	gnomAD
rs1008095274	37	A>T		No	gnomAD
rs988049607	37	A>V		No	TOPMed
rs760630948	39	E>*		No	ExAC TOPMed gnomAD
COSM4824671 rs760630948	39	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1017631765	39	E>V		No	TOPMed gnomAD
TCGA novel	41	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs758299465	42	C>*		No	ExAC TOPMed gnomAD
rs1312293848	42	C>F		No	gnomAD
rs1230202422	45	E>A		No	gnomAD
rs1230202422	45	E>G		No	gnomAD
rs777752382	47	A>T		No	ExAC gnomAD
rs751338890	48	K>E		No	ExAC gnomAD
rs1239464920 COSM3856336	48	K>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
TCGA novel	49	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1287980026	49	R>T		No	gnomAD
TCGA novel	50	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs767820518	51	M>T		No	gnomAD
rs766627856	51	M>V		No	ExAC gnomAD
rs1315122832	55	L>F		No	gnomAD
rs1452994158	56	V>L		No	gnomAD
rs1193458155	57	E>K		No	gnomAD
rs565295016	58	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs1561465393	61	P>R		No	TOPMed
rs1744444363	61	P>S		No	TOPMed
TCGA novel	62	T>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1168405118	63	T>A		No	TOPMed gnomAD
rs1034084718	63	T>I		No	TOPMed gnomAD
rs1462627158	64	E>*		No	gnomAD
rs1047991206	69	L>F		No	Ensembl
rs369077131	70	R>Q		No	ESP ExAC TOPMed gnomAD
rs751516991	70	R>W		No	ExAC gnomAD
rs767362785	71	N>I		No	ExAC gnomAD
rs754791360	73	V>I		No	ExAC gnomAD
rs754791360	73	V>L		No	ExAC gnomAD
rs1200089489	74	Y>*		No	TOPMed gnomAD
rs779912911	74	Y>C		No	ExAC gnomAD
rs779912911	74	Y>F		No	ExAC gnomAD
rs748751815	75	L>F		No	ExAC TOPMed gnomAD
rs373370094	76	A>E		No	ESP ExAC TOPMed gnomAD
rs373370094	76	A>G		No	ESP ExAC TOPMed gnomAD
rs779522081	77	K>R		No	ExAC TOPMed gnomAD
rs996244852	78	L>V		No	Ensembl
rs1744449594	81	F>L		No	TOPMed
rs1744449768	82	F>L		No	TOPMed
rs748711870	83	A>D		No	ExAC gnomAD
rs760830214	84	P>L		No	ExAC TOPMed gnomAD
rs760830214	84	P>R		No	ExAC TOPMed gnomAD
TCGA novel	84	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1467471359	86	M>I		No	TOPMed gnomAD
rs1332480352	86	M>V		No	Ensembl
rs759543698	87	V>A		No	ExAC gnomAD
TCGA novel	87	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs771128027	87	V>L		No	ExAC TOPMed gnomAD
rs1744451859	88	S>T		No	Ensembl
TCGA novel	89	E>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs544693483	90	K>E		No	1000Genomes ExAC TOPMed gnomAD
rs1461180566	90	K>I		No	TOPMed gnomAD
rs1461180566	90	K>R		No	TOPMed gnomAD
rs1326314501 COSM739219	91	K>N	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
TCGA novel	92	I>D	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1351413619	92	I>T		No	gnomAD
rs1744452861	92	I>V		No	TOPMed
rs774103761	93	Y>C		No	ExAC TOPMed gnomAD
rs1744453237	93	Y>D		No	TOPMed
rs1219905442	96	E>K		No	TOPMed gnomAD
TCGA novel	98	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs376517879	99	R>C		No	ESP ExAC TOPMed gnomAD
rs766063336	99	R>H		No	ExAC TOPMed gnomAD
rs766063336	99	R>L		No	ExAC TOPMed gnomAD
rs753577925	100	Y>C		No	ExAC gnomAD
rs1561465707	101	K>I		No	Ensembl
rs1745043815	102	K>N		No	Ensembl
rs766299341	103	S>P		No	ExAC gnomAD
rs753736233	105	L>I		No	ExAC TOPMed gnomAD
rs753736233	105	L>V		No	ExAC TOPMed gnomAD
rs989422308	106	H>R		No	gnomAD
COSM3920335	106	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs192694811 COSM3617922 RCV000238682 CA3311597	108	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
COSM1671695 rs764865648	108	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1561472025	110	T>A		No	Ensembl
rs1465510923	111	D>G		No	TOPMed gnomAD
rs1421370168	111	D>N		No	gnomAD
COSM3617923	113	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs778273441	114	V>I		No	ExAC TOPMed gnomAD
COSM78969	115	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1745046392	115	Q>R		No	TOPMed
rs1333613684	116	W>*		No	gnomAD
rs757563873	117	L>F		No	ExAC gnomAD
TCGA novel	119	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs146065067	119	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM483056	120	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1567603	120	M>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs780155939	121	E>A		No	ExAC gnomAD
rs1347844023	121	E>D		No	TOPMed gnomAD
rs780155939	121	E>G		No	ExAC gnomAD
rs749325481	122	S>P		No	ExAC
rs1745048826	123	I>V		No	gnomAD
rs1038302660	124	G>A		No	TOPMed gnomAD
rs1038302660	124	G>D		No	TOPMed gnomAD
rs776721097	128	I>V		No	ExAC gnomAD
rs2150281612	129	F>L		No	Ensembl
rs867999465	130	Y>C		No	gnomAD
rs867999465	130	Y>F		No	gnomAD
rs1224673865	131	P>A		No	TOPMed
rs1200914794	131	P>L		No	gnomAD
rs900157573	134	T>A		No	TOPMed gnomAD
rs1474784183	135	D>G		No	gnomAD
rs1693681134	135	D>N		No	TOPMed gnomAD
rs1402020945	137	Y>C		No	1000Genomes TOPMed gnomAD
rs200135774	138	D>N		No	ExAC TOPMed gnomAD
rs762488312	138	D>V		No	ExAC TOPMed gnomAD
rs749943435	139	R>Q		No	ExAC TOPMed gnomAD
rs1387132679	139	R>W		No	TOPMed gnomAD
rs1028066099	141	N>H		No	Ensembl
TCGA novel	141	N>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1325249797	142	I>M		No	1000Genomes TOPMed gnomAD
rs2150281705	143	P>S		No	Ensembl
rs1218058855	144	R>I		No	gnomAD
rs1278987496	144	R>S		No	TOPMed gnomAD
rs1320253941	145	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs140724393	147	Y>C		No	1000Genomes ExAC TOPMed gnomAD
rs750963939	147	Y>H		No	ExAC gnomAD
rs1451888454 COSM3617924	150	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs201291442	151	A>S		No	ExAC TOPMed gnomAD
rs201291442	151	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1193743303	152	L>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs1425169070	153	S>N		No	gnomAD
rs766978308	155	Y>C		No	ExAC gnomAD
rs766978308	155	Y>F		No	ExAC gnomAD
rs1015904819	156	L>Q		No	TOPMed gnomAD
rs1580531589	157	F>L		No	Ensembl
COSM1070193	157	F>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs754137958	158	K>R		No	ExAC gnomAD
rs375045201	160	G>R		No	ESP TOPMed gnomAD
rs1288050140	160	G>V		No	gnomAD
rs1345694576	161	I>M		No	TOPMed gnomAD
rs1208809512	162	A>T		No	TOPMed gnomAD
rs1221343846	162	A>V		No	gnomAD
rs202016097	163	P>T		No	1000Genomes ExAC TOPMed gnomAD
rs752998022	165	I>V		No	ExAC TOPMed gnomAD
rs1746433688	167	D>G		No	TOPMed
COSM1438621	169	L>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1439493249	171	K>I		No	gnomAD
TCGA novel	171	K>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs758500626	173	D>Y		No	ExAC gnomAD
rs777974408	176	E>K		No	ExAC gnomAD
rs143699665	178	E>D		No	ESP ExAC TOPMed gnomAD
rs1746504797	182	M>V		No	Ensembl
rs1431927304	183	R>I		No	gnomAD
rs1333050147	183	R>S		No	gnomAD
COSM1070194 rs201127307	185	E>*	Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs201127307	185	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs1746505850	187	E>D		No	Ensembl
rs765719063	188	K>N		No	ExAC TOPMed gnomAD
COSM1070195	188	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1746506210	189	Y>F		No	Ensembl
rs1369697897	190	G>*		No	gnomAD
TCGA novel	190	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs753157502	192	Q>R		No	ExAC gnomAD
rs763232991	193	M>L		No	ExAC TOPMed gnomAD
rs763232991	193	M>V		No	ExAC TOPMed gnomAD
rs1318104590	194	P>L		No	gnomAD
rs1746507567	194	P>S		No	TOPMed
rs1746507943	195	S>A		No	TOPMed
rs764475074	196	F>C		No	ExAC gnomAD
rs1221358674	198	K>N		No	gnomAD
rs1450263014	198	K>R		No	gnomAD
rs534471919	200	G>A		No	1000Genomes ExAC gnomAD
rs751575313	200	G>C		No	ExAC gnomAD
rs1746509620	204	A>S		No	Ensembl
TCGA novel	204	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1746509794	204	A>V		No	TOPMed
rs754961957	205	N>K		No	ExAC gnomAD
rs1306754472	205	N>S		No	TOPMed gnomAD
rs1224673541 COSM196338	206	E>K	large_intestine [Cosmic]	No	cosmic curated TOPMed
rs34833676	207	L>P		No	TOPMed gnomAD
rs34833676	207	L>Q		No	TOPMed gnomAD
rs771702305	208	S>F		No	ExAC TOPMed gnomAD
rs748004682	208	S>P		No	ExAC gnomAD
rs777493680	209	V>M		No	ExAC TOPMed gnomAD
rs746435662	210	D>N		No	ExAC gnomAD
rs1340633690	211	E>K		No	gnomAD
rs770505670	212	A>V		No	ExAC gnomAD
rs201525266	215	H>D		No	ExAC TOPMed gnomAD
rs1355091652	215	H>P		No	gnomAD
rs201525266	215	H>Y		No	ExAC TOPMed gnomAD
rs111655897	217	A>E		No	Ensembl
rs2150308101	217	A>T		No	Ensembl
rs111655897	217	A>V		No	Ensembl
COSM3856338	218	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1447441122	219	I>V		No	TOPMed gnomAD
rs1218879215	221	I>V		No	TOPMed gnomAD
rs1286098944	222	N>D		No	Ensembl
rs199711600	224	A>T		No	ESP ExAC TOPMed gnomAD
rs1746567125	224	A>V		No	TOPMed
rs1746567658	226	E>*		No	TOPMed
rs374036965	226	E>A		No	ESP ExAC TOPMed gnomAD
COSM1070197	230	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1437572103	230	A>T		No	gnomAD
rs1177820970	231	E>D		No	gnomAD
rs1746568342	231	E>G		No	TOPMed
rs1580535767	231	E>K		No	Ensembl
rs1746568900	233	T>N		No	TOPMed gnomAD
rs780719419	233	T>P		No	ExAC gnomAD
COSM3787082 rs147531108 RCV000894163	234	V>I	pancreas [Cosmic]	No	cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	234	V>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs776151672	235	V>G		No	ExAC gnomAD
rs1397729527	236	T>S		No	gnomAD
rs1680352862	237	L>P		No	TOPMed
rs1561489113	237	L>V		No	Ensembl
TCGA novel	238	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1332956913	239	N>D		No	Ensembl
rs1430652388	240	P>A		No	Ensembl
COSM3920336	240	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs201309376	241	N>H		No	TOPMed gnomAD
TCGA novel	241	N>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs572815114	242	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA gnomAD
rs1746571611	243	V>L		No	TOPMed
rs1746571776	245	T>S		No	TOPMed
rs1242959543	246	L>S		No	gnomAD
rs1273114696	247	V>A		No	gnomAD
rs1344430879 COSM4557821	248	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs768739801	250	N>S		No	ExAC TOPMed gnomAD
rs376703431	252	A>E		No	ESP ExAC TOPMed gnomAD
rs773268046	253	P>R		No	ExAC gnomAD
rs1209722513	254	E>D		No	TOPMed gnomAD
rs774395307	255	Y>C		No	TOPMed
rs760759890	256	Q>R		No	ExAC TOPMed gnomAD
rs1166746698	257	K>N		No	TOPMed gnomAD
COSM1070198	258	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3617925	258	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1475733698	259	L>R		No	TOPMed gnomAD
TCGA novel	260	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs986110888	261	D>V		No	TOPMed
rs765094638	262	A>T		No	ExAC gnomAD
rs1376526031	263	K>E		No	gnomAD
rs763926809	266	K>R		No	ExAC gnomAD
COSM3617926	268	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1214589244	270	A>V		No	TOPMed
rs756926479	272	L>Q		No	ExAC gnomAD
rs780762292	273	K>Q		No	ExAC TOPMed gnomAD
TCGA novel	275	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs751353245	276	C>Y		No	ExAC gnomAD
COSM1634321	277	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1746754923	280	E>*		No	TOPMed gnomAD
rs1746755203	281	E>K		No	Ensembl
TCGA novel	282	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs767209038	282	R>S		No	ExAC gnomAD
COSM1438623 rs1343321555	283	D>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1338558134	283	D>H		No	gnomAD
rs1338558134	283	D>N		No	gnomAD
rs1279051580	285	Y>*		No	gnomAD
rs750125390	285	Y>C		No	ExAC gnomAD
rs750125390	285	Y>F		No	ExAC gnomAD
rs1242336425	286	E>G		No	gnomAD
rs1275498369	288	L>M		No	TOPMed gnomAD
rs1275498369	288	L>V		No	TOPMed gnomAD
rs373714955	290	T>A		No	ESP ExAC TOPMed gnomAD
rs1037431073	291	Q>E		No	TOPMed gnomAD
rs1746757801	294	I>S		No	TOPMed
rs1746757984 COSM3920337	295	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed
rs1746758182	295	Q>R		No	Ensembl
rs377573714	296	G>S		No	ESP TOPMed gnomAD
rs1406232589	297	N>S		No	TOPMed gnomAD
rs1348026683	298	I>V		No	TOPMed gnomAD
rs1487663978	301	V>A		No	gnomAD
COSM1329447	301	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1746759027	301	V>I		No	Ensembl
COSM4914887 rs1264875033	302	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1264875033	302	N>T		No	gnomAD
TCGA novel	303	R>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs1464695781	303	R>K		No	gnomAD
rs754452652	303	R>S		No	ExAC gnomAD
rs779438415	304	Q>E		No	ExAC gnomAD
rs1338840244	304	Q>H		No	TOPMed gnomAD
rs1747113874 COSM348086	305	A>D	lung [Cosmic]	No	cosmic curated Ensembl
rs758951131	306	A>S		No	ExAC
COSM4909490	307	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs778080152	308	D>G		No	ExAC gnomAD
rs1747115438	309	H>R		No	Ensembl
rs1240797283	309	H>Y		No	gnomAD
rs1346509965	310	I>S		No	TOPMed gnomAD
rs371271172	311	N>S		No	Ensembl
rs1308473061	312	A>G		No	TOPMed gnomAD
COSM3856339 rs1308473061	312	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs1231948982	313	V>D		No	gnomAD
rs137915513	313	V>I		No	ESP ExAC TOPMed gnomAD
rs137915513	313	V>L		No	ESP ExAC TOPMed gnomAD
rs1580555239	315	P>A		No	Ensembl
rs141913830	315	P>L		No	ESP ExAC TOPMed gnomAD
rs1205950494	318	D>E		No	gnomAD
rs1166947612	319	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs150086790	320	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs769793025	322	T>A		No	ExAC TOPMed gnomAD
COSM3073889 rs375606140	322	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs375606140	322	T>R		No	ESP ExAC TOPMed gnomAD
rs1431481397	323	L>Q		No	TOPMed gnomAD
rs772206819	325	A>V		No	ExAC TOPMed gnomAD
TCGA novel	327	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs575276287	327	K>R		No	ExAC TOPMed gnomAD
rs1399316528	328	K>Q		No	gnomAD
rs2150318022	329	P>Q		No	Ensembl
rs929388707	330	E>A		No	Ensembl
rs1747120748	330	E>K		No	Ensembl
rs1580555445	331	A>S		No	TOPMed
rs566526969	331	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs1458589509	332	Q>R		No	Ensembl
rs1561494770	334	P>L		No	Ensembl
COSM3617927 rs1365450795	334	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1301425083	336	V>G		No	gnomAD
rs1747122951	336	V>L		No	TOPMed gnomAD
rs759039553	337	Y>C		No	ExAC gnomAD
rs764629230	338	P>A		No	ExAC TOPMed gnomAD
rs1747123691	339	F>L		No	Ensembl
rs1256514845	339	F>S		No	gnomAD
rs1316511275	340	A>P		No	TOPMed
rs1747124232	340	A>V		No	TOPMed
rs1277944586	341	A>V		No	TOPMed gnomAD
TCGA novel	342	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs752289860	343	M>V		No	ExAC gnomAD
rs1205711927	345	Q>*		No	gnomAD
rs1205711927	345	Q>E		No	gnomAD
rs2150318096	345	Q>R		No	Ensembl
rs1487825655	347	E>D		No	TOPMed gnomAD
rs1747125279 COSM1210862	347	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed gnomAD
rs1363642859	349	F>L		No	TOPMed
rs1561494850	350	N>D		No	Ensembl
TCGA novel	350	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2150318128	351	L>F		No	Ensembl
rs373251555	351	L>P		No	Ensembl
rs181258165	352	Q>R		No	1000Genomes ExAC TOPMed gnomAD
rs1747126646	353	K>*		No	gnomAD
rs1747126814	354	Q>E		No	gnomAD
rs1007567947	354	Q>R		No	Ensembl
rs1422918667	355	N>S		No	gnomAD
rs751860358	356	T>A		No	ExAC gnomAD
rs1747128082	357	M>I		No	Ensembl
rs781432692	357	M>T		No	ExAC gnomAD
rs757619093	357	M>V		No	ExAC TOPMed gnomAD
rs1377467194	360	L>V		No	gnomAD
rs1747381084 COSM3429647	361	A>V	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs780341391	362	H>Y		No	ExAC gnomAD
rs955288465	363	E>A		No	TOPMed gnomAD
rs199507670	363	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM3073892 rs1561497183	366	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed gnomAD
rs1214520718	367	I>F		No	TOPMed gnomAD
rs1447727914	370	E>A		No	TOPMed gnomAD
rs1747382206	370	E>K		No	gnomAD
rs988386923	371	M>V		No	Ensembl
rs1747383119	373	S>P		No	Ensembl
rs1747383287	375	V>I		No	Ensembl
rs1235472592	376	A>D		No	TOPMed gnomAD
rs2150322922	378	L>P		No	Ensembl
rs376410723	378	L>V		No	ESP ExAC TOPMed gnomAD
rs746922831	379	N>Y		No	ExAC gnomAD
rs1485131323	380	Q>E		No	gnomAD
rs1747384656	381	A>D		No	TOPMed
rs2150322940	385	N>S		No	Ensembl
COSM275584 rs1449519007	386	D>N	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed gnomAD
rs1747385587	386	D>V		No	Ensembl
rs1449519007 COSM340251	386	D>Y	lung [Cosmic]	No	cosmic curated TOPMed gnomAD
COSM3828438	389	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1747386317	390	V>A		No	gnomAD
rs946545551	390	V>L		No	TOPMed
rs1747386501	391	Q>R		No	TOPMed
rs1747386712	393	Q>*		No	Ensembl
rs1435602849	395	R>G		No	TOPMed
TCGA novel	395	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	396	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1747387053	396	S>R		No	TOPMed
rs1402040324	397	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1385094063	397	P>S		No	gnomAD
rs138552758 COSM1210863	398	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs762408122	399	I>T		No	ExAC TOPMed gnomAD
rs761045939	403	N>S		No	ExAC TOPMed gnomAD
rs374157441	404	L>P		No	ESP ExAC TOPMed gnomAD
rs1238611843	407	A>T		No	gnomAD
rs1308573531	408	Y>H		No	gnomAD
rs766791151	411	R>C		No	ExAC TOPMed gnomAD
rs766791151	411	R>G		No	ExAC TOPMed gnomAD
rs377512838	411	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs766791151	411	R>S		No	ExAC TOPMed gnomAD
rs1747790816	412	Y>C		No	gnomAD
rs754297726	413	A>V		No	ExAC TOPMed gnomAD
rs373926073	418	S>F		No	ESP ExAC TOPMed gnomAD
rs373926073	418	S>Y		No	ESP ExAC TOPMed gnomAD
rs1395900340	419	V>F		No	Ensembl
rs752762968	422	E>D		No	ExAC TOPMed gnomAD
rs149265572	423	V>F		No	ESP TOPMed gnomAD
rs1454983651	425	S>F		No	TOPMed
rs890537970	426	Q>P		No	TOPMed gnomAD
rs890537970	426	Q>R		No	TOPMed gnomAD
rs144559978	427	G>E		No	ESP ExAC TOPMed gnomAD
rs1747793584	427	G>R		No	gnomAD
rs137988082	428	Q>*		No	ESP ExAC TOPMed gnomAD
rs137988082	428	Q>K		No	ESP ExAC TOPMed gnomAD
rs750395818	429	D>G		No	ExAC gnomAD
rs750395818	429	D>V		No	ExAC gnomAD
rs1747794554	430	N>K		No	Ensembl
TCGA novel	433	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM3994447	435	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1747794897	436	I>N		No	TOPMed gnomAD
COSM1070200	436	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	437	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	438	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1285401265	439	C>G		No	gnomAD
rs756052806	440	I>F		No	ExAC TOPMed gnomAD
rs779822298	440	I>T		No	ExAC TOPMed gnomAD
rs756052806	440	I>V		No	ExAC TOPMed gnomAD
rs968464103	441	D>G		No	TOPMed
COSM6104292	441	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1747796468	442	M>I		No	Ensembl
rs768240974	442	M>T		No	ExAC TOPMed gnomAD
rs73766943	442	M>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs376098110	444	N>I		No	ESP ExAC TOPMed gnomAD
rs747576094	445	A>T		No	ExAC gnomAD
rs771638192	445	A>V		No	ExAC
COSM6104291	446	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs927017522	446	Q>R		No	TOPMed gnomAD
rs1260582882	447	I>T		No	gnomAD
TCGA novel	447	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1747797877	448	Q>R		No	Ensembl
rs1192840396	452	D>G		No	gnomAD
COSM3669475 rs1477324003	452	D>N	liver [Cosmic]	No	cosmic curated TOPMed gnomAD
rs1477324003	452	D>Y		No	TOPMed gnomAD
rs772650342	453	R>*		No	ExAC gnomAD
rs1391452714	454	V>I		No	gnomAD
VAR_055823 rs7722711	455	V>A		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1561507549	457	V>I		No	Ensembl
rs1748358576	458	G>E		No	gnomAD
rs1431005519	459	Y>C		No	TOPMed
rs201516054	461	N>I		No	1000Genomes ExAC TOPMed gnomAD
rs201516054	461	N>S		No	1000Genomes ExAC TOPMed gnomAD
rs1262852405	463	A>V		No	gnomAD
rs764282035	464	I>T		No	ExAC gnomAD
rs368535679	464	I>V		No	TOPMed
rs774431996	465	D>N		No	ExAC TOPMed gnomAD
rs766263686	468	N>I		No	ExAC TOPMed gnomAD
rs766263686	468	N>S		No	ExAC TOPMed gnomAD
rs1748362321	469	P>S		No	gnomAD
rs1748362567	470	L>S		No	Ensembl
rs1459515361	472	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1177797417	473	L>*		No	gnomAD
rs753798820	473	L>F		No	ExAC gnomAD
rs1177797417	473	L>S		No	gnomAD
rs1198941562	476	L>F		No	gnomAD
rs754960355	476	L>V		No	ExAC gnomAD
rs3822530 RCV000968057	479	P>H		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM149857 rs3822530 VAR_055824	479	P>R	stomach [Cosmic]	No	cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1561507704	480	T>A		No	TOPMed
rs1561507704	480	T>P		No	TOPMed
rs528370381	481	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs746458730	483	I>V		No	ExAC TOPMed gnomAD
rs999368045	485	D>G		No	TOPMed gnomAD
rs1403850495	486	V>A		No	gnomAD
rs998409885	487	D>G		No	gnomAD
rs756855268	488	P>A		No	ExAC TOPMed gnomAD
rs756855268	488	P>S		No	ExAC TOPMed gnomAD
rs770463209	489	A>D		No	ExAC TOPMed gnomAD
rs1580598847	489	A>P		No	Ensembl
rs770463209	489	A>V		No	ExAC TOPMed gnomAD
rs775917606	490	H>R		No	ExAC TOPMed gnomAD
COSM4918215	490	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1205860778	491	A>V		No	gnomAD
rs1253646333	492	Q>R		No	gnomAD
rs374553088	493	H>R		No	ESP ExAC TOPMed gnomAD
rs1748371643	495	Q>*		No	Ensembl
rs761832961	495	Q>R		No	ExAC gnomAD
rs1428996116	496	D>E		No	gnomAD
TCGA novel	496	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1418572941	496	D>V		No	gnomAD
rs772121528	497	V>D		No	ExAC gnomAD
rs1748372966	497	V>I		No	TOPMed
rs773324012	498	L>V		No	ExAC gnomAD
rs765148466	500	H>Q		No	ExAC TOPMed gnomAD
rs1303291580	500	H>R		No	gnomAD
rs980754951	506	L>P		No	TOPMed gnomAD
rs1258433106	507	G>E		No	TOPMed gnomAD
rs751274959	507	G>R		No	ExAC TOPMed gnomAD
rs764171351	511	S>G		No	ExAC gnomAD
rs1487374525	512	V>I		No	TOPMed gnomAD
rs751781321	513	S>P		No	ExAC TOPMed gnomAD
rs751781321	513	S>T		No	ExAC TOPMed gnomAD
rs757459842	514	K>E		No	ExAC gnomAD
rs139421974	514	K>I		No	ESP ExAC gnomAD
rs757459842	514	K>Q		No	ExAC gnomAD
rs139421974	514	K>R		No	ESP ExAC gnomAD
rs1750342400	515	V>M		No	TOPMed
rs1167639305	516	L>F		No	TOPMed gnomAD
rs1167639305	516	L>I		No	TOPMed gnomAD
rs1561527737	516	L>P		No	Ensembl
rs1750343438	517	W>*		No	Ensembl
rs1580660552	518	L>P		No	Ensembl
rs1024370501	519	D>G		No	TOPMed
rs1429875549	520	E>D		No	gnomAD
rs754896825	521	I>M		No	ExAC TOPMed gnomAD
rs1750345370	522	Q>K		No	TOPMed
rs747849810	523	Q>E		No	ExAC gnomAD
rs571271336	525	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs1750347613	526	D>E		No	TOPMed
rs145465543	526	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs145465543	526	D>Y		No	ESP ExAC TOPMed gnomAD
VAR_062958 rs2431352	527	D>E		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2150376599	527	D>N		No	Ensembl
rs764487513	530	V>A		No	ExAC TOPMed gnomAD
rs764487513	530	V>E		No	ExAC TOPMed gnomAD
rs368255249	530	V>M		No	ESP ExAC TOPMed gnomAD
rs143443092	531	D>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs774644385	531	D>N		No	ExAC TOPMed gnomAD
rs774644385	531	D>Y		No	ExAC TOPMed gnomAD
rs2909888	532	K>*		No	1000Genomes ESP ExAC TOPMed gnomAD
VAR_059292 rs2909888	532	K>E		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2150376672	534	R>K		No	Ensembl
rs1750350831	535	A>G		No	TOPMed
rs1247412481	535	A>S		No	gnomAD
TCGA novel	536	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs766613037	536	K>R		No	ExAC gnomAD
rs752647238	538	W>R		No	ExAC gnomAD
rs781016585	539	V>F		No	ExAC TOPMed gnomAD
rs892461421	541	L>M		No	TOPMed gnomAD
rs1483781349	545	V>I		No	TOPMed
rs1750736575	546	N>D		No	Ensembl
COSM3429648	546	N>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1750737028	546	N>K		No	TOPMed
rs779604027	547	Q>H		No	ExAC gnomAD
rs1483577477	548	C>*		No	gnomAD
rs748761796	548	C>G		No	ExAC TOPMed gnomAD
rs748761796	548	C>R		No	ExAC TOPMed gnomAD
COSM3617935 rs769166078	551	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA
TCGA novel	553	K>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1184441704	554	S>*		No	gnomAD
rs1750739742	555	S>N		No	Ensembl
rs1349127834	556	D>G		No	TOPMed
rs1243688394	556	D>N		No	gnomAD
rs1030781873	557	I>T		No	Ensembl
rs1478007638	558	L>F		No	TOPMed gnomAD
rs748713118	559	S>P		No	ExAC TOPMed gnomAD
rs748713118	559	S>T		No	ExAC TOPMed gnomAD
rs772532392	562	K>E		No	ExAC TOPMed gnomAD
rs1750742502	563	S>P		No	Ensembl
rs1427951584	564	S>Y		No	gnomAD
rs773777986	565	T>I		No	ExAC gnomAD
rs1750743136	567	N>K		No	Ensembl
rs760963354	569	N>D		No	ExAC gnomAD
COSM3856344	570	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs893428345	570	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1750744185	571	I>M		No	TOPMed gnomAD
rs1010573702	571	I>V		No	Ensembl
rs1023869327 COSM3828440	573	P>L	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1305588486	574	E>D		No	TOPMed gnomAD
rs1750745168	575	C>R		No	Ensembl
rs1750745384	575	C>W		No	TOPMed
rs532348768	576	A>D		No	1000Genomes ExAC TOPMed gnomAD
rs759569896	577	D>E		No	ExAC gnomAD
rs1750745824	577	D>N		No	Ensembl
rs1750746290	578	K>R		No	Ensembl
rs1373865545	579	Y>*		No	TOPMed gnomAD
rs531540344	579	Y>C		No	Ensembl
rs764047209	580	Y>C		No	ExAC TOPMed gnomAD
rs764047209	580	Y>S		No	ExAC TOPMed gnomAD
rs1343859086	581	D>G		No	gnomAD
rs1025788734	584	V>M		No	TOPMed gnomAD
rs2150385151	585	K>R		No	Ensembl
rs761781848	588	E>*		No	ExAC gnomAD
rs748926760	589	L>F		No	Ensembl
rs767296430	589	L>P		No	ExAC TOPMed gnomAD
rs1750749353	590	K>*		No	Ensembl
rs750278236	590	K>N		No	ExAC TOPMed gnomAD
rs972550234	591	S>C		No	TOPMed gnomAD
rs972550234	591	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1580672907	592	E>*		No	Ensembl
rs1580672923	592	E>D		No	Ensembl
rs1580672937	593	R>G		No	Ensembl
rs755705908	593	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	593	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1469821357	594	V>A		No	TOPMed gnomAD
rs1750751117	594	V>M		No	gnomAD
rs778270885	595	S>C		No	ExAC TOPMed gnomAD
rs778270885	595	S>F		No	ExAC TOPMed gnomAD
rs369081736	596	S>G		No	ESP ExAC TOPMed gnomAD
rs758904997	596	S>I		No	ExAC gnomAD
rs758904997	596	S>N		No	ExAC gnomAD
rs1580686733	596	S>R		No	Ensembl
rs778451679	597	D>A		No	ExAC gnomAD
rs2150395060	597	D>N		No	Ensembl
COSM3856345	598	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs781652383	598	G>D		No	ExAC TOPMed gnomAD
rs771181771 COSM1070206	598	G>S	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1322318021	600	W>*		No	TOPMed
TCGA novel	600	W>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs746075906	600	W>R		No	ExAC gnomAD
rs775492069	601	L>F		No	ExAC TOPMed gnomAD
rs775492069	601	L>I		No	ExAC TOPMed gnomAD
rs1751193095	603	L>P		No	gnomAD
rs1751193549	604	N>K		No	Ensembl
rs2150395145	605	L>P		No	Ensembl
rs964889900	606	H>N		No	TOPMed
rs964889900	606	H>Y		No	TOPMed
rs2150395155	607	K>E		No	Ensembl
rs1472165738	608	K>E		No	gnomAD
rs976205552	608	K>I		No	TOPMed
COSM5134589	608	K>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1751195748	610	D>G		No	TOPMed
TCGA novel	610	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1751195748	610	D>V		No	TOPMed
rs530310707	611	Y>C		No	ExAC TOPMed gnomAD
rs558289660	612	Y>C		No	TOPMed
rs558289660	612	Y>F		No	TOPMed
rs766082052	612	Y>H		No	ExAC gnomAD
rs762364549	613	Y>*		No	ExAC gnomAD
rs1751197408	615	T>I		No	TOPMed
rs1751197408	615	T>S		No	TOPMed
rs764983767 COSM3661948	616	D>G	liver [Cosmic]	No	cosmic curated ExAC gnomAD
rs1301733155	616	D>N		No	TOPMed
rs752211022	617	S>*		No	ExAC gnomAD
rs752211022	617	S>L		No	ExAC gnomAD
rs1751199038	618	K>E		No	TOPMed
rs1751199038	618	K>Q		No	TOPMed
rs763750761	618	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1331889559	619	E>D		No	Ensembl
rs752084304	622	W>*		No	ExAC gnomAD
rs922375218	622	W>*		No	TOPMed gnomAD
rs922375218	622	W>C		No	TOPMed gnomAD
TCGA novel	622	W>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1350967088	623	V>I		No	gnomAD
TCGA novel	624	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1751205012	625	P>T		No	TOPMed
rs1751205742 COSM483059	627	S>L	kidney Variant assessed as Somatic; MODERATE impact. skin [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1348754999	627	S>T		No	gnomAD
rs757851478	628	C>Y		No	ExAC gnomAD
VAR_062959 rs2455230	629	L>F		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1015665983	630	Y>C		No	gnomAD
rs181383719	631	K>E		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	631	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1043702902	636	T>I		No	Ensembl
COSM4404182	637	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs768691178	641	E>K		No	ExAC TOPMed gnomAD
COSM1329446	641	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1319684663	643	I>V		No	gnomAD
rs1213905659	644	I>T		No	TOPMed gnomAD
rs1751524888	645	E>*		No	Ensembl
rs1751524888	645	E>Q		No	Ensembl
rs1751525467	645	E>V		No	Ensembl
rs35544895 RCV000969492	647	V>L		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1469791626	648	T>A		No	gnomAD
rs1206227418	648	T>R		No	gnomAD
rs928755084	649	V>I		No	TOPMed gnomAD
TCGA novel	650	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs761418477	651	Y>C		No	ExAC TOPMed gnomAD
rs773670391	651	Y>D		No	ExAC gnomAD
rs761418477	651	Y>S		No	ExAC TOPMed gnomAD
rs559779834	652	I>L		No	1000Genomes ExAC gnomAD
rs559779834	652	I>V		No	1000Genomes ExAC gnomAD
COSM1438630 rs766715473	653	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs375933191	653	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM6104288	654	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1319196532	654	E>K		No	gnomAD
rs368537160	656	I>M		No	ESP ExAC TOPMed gnomAD
rs755123672	656	I>T		No	ExAC TOPMed gnomAD
rs752667143	657	W>C		No	ExAC TOPMed gnomAD
rs1377249112	659	A>V		No	gnomAD
rs111675976	662	E>G		No	1000Genomes
rs745801288	663	L>F		No	ExAC
rs769912642	664	L>F		No	ExAC TOPMed gnomAD
rs749100595	666	R>C		No	ExAC gnomAD
rs768384751	666	R>H		No	ExAC TOPMed gnomAD
rs768384751	666	R>L		No	ExAC TOPMed gnomAD
rs768384751	666	R>P		No	ExAC TOPMed gnomAD
rs76713554	667	F>L		No	ExAC
rs1316974922	667	F>S		No	TOPMed gnomAD
rs1316974922	667	F>Y		No	TOPMed gnomAD
rs200306861	668	Q>K		No	ExAC gnomAD
rs1235320095	670	T>K		No	gnomAD
rs1050035275	671	S>R		No	Ensembl
rs1482744202	672	S>*		No	TOPMed gnomAD
rs1482744202	672	S>L		No	TOPMed gnomAD
rs371907881	673	G>E		No	ESP ExAC TOPMed gnomAD
rs1416208563	673	G>R		No	Ensembl
rs376526797	674	P>H		No	ESP TOPMed
rs754159279	674	P>T		No	ExAC gnomAD
rs1751537489	676	L>V		No	TOPMed
rs571625844	677	R>G		No	1000Genomes ExAC gnomAD
rs1258279165	677	R>K		No	gnomAD
rs765566289	678	E>G		No	ExAC gnomAD
rs148549280	680	F>C		No	ESP ExAC TOPMed gnomAD
rs1357593521	680	F>L		No	TOPMed gnomAD
rs148549280	680	F>S		No	ESP ExAC TOPMed gnomAD
COSM3617936	685	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1447544935	685	S>P		No	gnomAD
rs368456798	686	F>L		No	ESP ExAC TOPMed gnomAD
rs1332390160	687	L>F		No	TOPMed
rs1751541523	688	H>P		No	TOPMed gnomAD
rs954767683	688	H>Y		No	TOPMed gnomAD
rs1245336379	689	E>K		No	TOPMed
rs1751542240	690	Q>K		No	TOPMed
rs1323448255	691	E>G		No	TOPMed gnomAD
rs1209704821	691	E>K		No	Ensembl
rs1292764650	692	E>K		No	TOPMed gnomAD
rs530993260	693	N>D		No	1000Genomes ExAC TOPMed gnomAD
rs201322324	693	N>K		No	1000Genomes ExAC TOPMed gnomAD
rs530993260	693	N>Y		No	1000Genomes ExAC TOPMed gnomAD
rs1322111725	694	V>M		No	TOPMed
rs770132626	695	V>A		No	ExAC gnomAD
rs79871053	695	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs79871053	695	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs746549754	697	I>M		No	ExAC gnomAD
COSM1070208	698	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs778711088	699	A>P		No	ExAC TOPMed gnomAD
rs778711088	699	A>S		No	ExAC TOPMed gnomAD
COSM4586009	701	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1272713741	704	Y>C		No	gnomAD
rs1752618385	704	Y>N		No	Ensembl
rs747898548	705	K>E		No	ExAC TOPMed gnomAD
rs534424829	706	Q>K		No	1000Genomes ExAC TOPMed gnomAD
rs151128648	707	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM275585 rs375342547	707	R>W	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1752619881	709	E>V		No	TOPMed gnomAD
TCGA novel	711	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs770392504	711	M>T		No	ExAC TOPMed gnomAD
rs2150430613	712	H>Q		No	Ensembl
rs1752620353	713	R>G		No	gnomAD
rs139973941	713	R>T		No	ESP TOPMed gnomAD
rs35366349	714	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1447917248	714	R>Q		No	TOPMed gnomAD
VAR_055825 rs35366349	714	R>W		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1173346395	716	T>A		No	TOPMed
rs199827196	716	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs1411521893	718	I>N		No	TOPMed gnomAD
rs1411521893	718	I>S		No	TOPMed gnomAD
rs1321440380	719	D>G		No	TOPMed gnomAD
rs1321440380	719	D>V		No	TOPMed gnomAD
rs775860489	720	N>H		No	ExAC gnomAD
rs763261038	721	T>I		No	ExAC gnomAD
rs764330260	723	S>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1226200696	724	I>T		No	TOPMed gnomAD
rs2431363 VAR_062960	724	I>V		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1752624917	726	K>R		No	Ensembl
rs1240400632	728	Q>R		No	TOPMed
rs895091187	729	S>F		No	Ensembl
rs752542403	730	W>C		No	ExAC TOPMed gnomAD
COSM739216 rs373704383	732	R>*	lung Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs373704383	732	R>G		No	ESP ExAC TOPMed gnomAD
rs112380748	732	R>L		No	ExAC TOPMed gnomAD
rs112380748	732	R>Q		No	ExAC TOPMed gnomAD
rs199567785	733	M>L		No	ExAC TOPMed gnomAD
rs199567785	733	M>V		No	ExAC TOPMed gnomAD
rs756838295	734	A>P		No	ExAC TOPMed gnomAD
rs756838295	734	A>T		No	ExAC TOPMed gnomAD
rs1412379316	735	T>I		No	gnomAD
rs1580732146	737	R>K		No	Ensembl
TCGA novel	738	K>I	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1752733130	740	Y>*		No	gnomAD
rs377569601	740	Y>C		No	ESP ExAC TOPMed gnomAD
rs377569601	740	Y>F		No	ESP ExAC TOPMed gnomAD
rs558998741	741	L>F		No	1000Genomes ExAC TOPMed gnomAD
rs749756129	745	Q>*		No	ExAC gnomAD
rs749756129	745	Q>E		No	ExAC gnomAD
rs769297993	745	Q>H		No	ExAC TOPMed gnomAD
rs749756129	745	Q>K		No	ExAC gnomAD
rs1169084685	745	Q>R		No	TOPMed gnomAD
rs1408972310	748	R>S		No	gnomAD
rs779351382	749	D>E		No	ExAC gnomAD
rs2150434515	750	H>R		No	Ensembl
rs1752794384	751	N>S		No	gnomAD
rs755864650	752	N>S		No	ExAC gnomAD
rs753391530	754	I>M		No	ExAC gnomAD
rs1451974914	757	I>T		No	gnomAD
rs755500283	757	I>V		No	ExAC gnomAD
rs779585254	760	L>Q		No	ExAC gnomAD
rs1561555556	761	L>S		No	Ensembl
rs1561555556	761	L>W		No	Ensembl
rs1461846337	763	A>T		No	gnomAD
rs538270711	763	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs771194718	764	N>D		No	ExAC gnomAD
rs1752798574	764	N>K		No	Ensembl
rs1366529199	765	K>N		No	TOPMed gnomAD
COSM1438631	765	K>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1752798778	765	K>T		No	TOPMed
rs1040589928	767	R>G		No	TOPMed
rs745980959	768	D>E		No	ExAC TOPMed gnomAD
rs776511510	768	D>N		No	ExAC TOPMed gnomAD
COSM6104287 rs2150436383 COSM593412	770	Y>C	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic Ensembl
rs774253489	772	T>A		No	ExAC TOPMed gnomAD
rs760539641	775	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs760539641	775	G>V		No	ExAC TOPMed gnomAD
rs1362897824	777	E>Q		No	TOPMed gnomAD
TCGA novel	778	N>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs770680903	782	T>I		No	ExAC gnomAD
rs1435167935	784	I>T		No	TOPMed gnomAD
COSM1695880 rs534842328	785	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs759325601	785	R>H		No	ExAC TOPMed gnomAD
rs759083181	786	K>R		No	Ensembl
rs1742958128	787	F>S		No	Ensembl
rs764822544	787	F>V		No	ExAC gnomAD
rs544960476	788	V>A		No	ExAC TOPMed gnomAD
rs1742959148	792	D>E		No	Ensembl
TCGA novel	793	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1043889502	796	L>F		No	TOPMed gnomAD
rs1413952713	797	D>H		No	gnomAD
rs757624337	801	E>K		No	ExAC gnomAD
rs1357322773	802	L>P		No	TOPMed gnomAD
rs1357322773	802	L>R		No	TOPMed gnomAD
rs1742961804 COSM137892	804	V>A	skin [Cosmic]	No	cosmic curated Ensembl
rs781453969	804	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs781453969	804	V>I		No	ExAC TOPMed gnomAD
COSM739214	805	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs750639664	805	A>T		No	ExAC
rs372033178	805	A>V		No	ESP ExAC TOPMed gnomAD
COSM1254911 rs780051461	806	R>*	oesophagus [Cosmic]	No	cosmic curated ExAC gnomAD
rs749399514	806	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1217494528	810	E>*		No	gnomAD
rs1217494528	810	E>Q		No	gnomAD
rs1580744354	811	V>A		No	Ensembl
rs1484863878	813	T>N		No	gnomAD
rs771854362	814	K>Q		No	ExAC gnomAD
rs1258784165	814	K>R		No	gnomAD
rs1176022489	815	I>S		No	gnomAD
rs1176022489	815	I>T		No	gnomAD
rs1407339122	816	R>S		No	TOPMed gnomAD
rs1247816525	817	A>T		No	TOPMed
rs982433336 COSM6104286 COSM593410	818	N>D	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic Ensembl NCI-TCGA
rs777743162	818	N>S		No	ExAC TOPMed gnomAD
rs1742966745	822	E>K		No	TOPMed
rs939288560	824	D>N		No	TOPMed gnomAD
rs746959148	825	L>P		No	ExAC gnomAD
rs746959148	825	L>R		No	ExAC gnomAD
rs1435770239	826	N>K		No	TOPMed gnomAD
rs770751155	826	N>S		No	ExAC TOPMed gnomAD
rs1327649991	827	L>P		No	TOPMed
COSM1070209	827	L>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1320958206	828	M>T		No	TOPMed
rs1313285618	828	M>V		No	gnomAD
rs1013587143	829	D>N		No	Ensembl
rs1742969715	830	I>T		No	Ensembl
rs1036648540	830	I>V		No	Ensembl
rs776621667	831	K>R		No	ExAC gnomAD
rs866876284	833	G>R		No	Ensembl
rs1278957496	836	V>M		No	gnomAD
rs769572270	837	K>R		No	ExAC gnomAD
rs769572270	837	K>T		No	ExAC gnomAD
rs1300726452	838	N>D		No	gnomAD
rs1048199084	840	I>N		No	TOPMed gnomAD
rs1742972533	842	L>I		No	TOPMed
rs745686848	844	D>N		No	ExAC gnomAD
TCGA novel	846	I>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1474267056	847	S>L		No	gnomAD
rs253093	848	H>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs532765775	849	S>G		No	1000Genomes ExAC gnomAD
rs908507625	850	K>R		No	Ensembl
rs2150465843	851	K>N		No	Ensembl
rs1743628245	852	L>Q		No	TOPMed
COSM1070210	855	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1162782960	856	K>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1325834915	857	G>R		No	TOPMed gnomAD
rs1743629999	858	G>R		No	TOPMed gnomAD
rs1325035479	859	E>D		No	TOPMed gnomAD
rs865787303	860	M>I		No	Ensembl
rs200795118	860	M>K		No	TOPMed
rs1743631663	866	T>I		No	TOPMed gnomAD
rs773528209	867	D>H		No	ExAC TOPMed gnomAD
rs773528209 COSM3073947	867	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC TOPMed gnomAD
rs201059481	868	N>S		No	1000Genomes ExAC TOPMed gnomAD
rs766768960	869	Q>E		No	ExAC gnomAD
rs1271892818	869	Q>R		No	TOPMed gnomAD
rs201642967	870	G>V		No	ExAC TOPMed gnomAD
rs1388365390	871	I>T		No	TOPMed
rs1350251415	871	I>V		No	gnomAD
rs200362498	873	S>C		No	1000Genomes ExAC gnomAD
rs1394227630	873	S>R		No	Ensembl
COSM4819877 rs1038236033	874	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl NCI-TCGA
rs1292246829	875	S>R		No	TOPMed gnomAD
TCGA novel rs1743635641	876	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs2150466041	877	E>K		No	Ensembl
rs2150466045	878	R>G		No	Ensembl
COSM1438633	881	T>H	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs765300091	881	T>I		No	ExAC gnomAD
rs34968964	883	E>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs745852713	885	Y>*		No	ExAC TOPMed gnomAD
rs781303227	885	Y>H		No	ExAC gnomAD
COSM3617941	886	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs755946621	890	Y>C		No	ExAC TOPMed gnomAD
rs776253845	890	Y>H		No	TOPMed gnomAD
rs779784878	891	L>F		No	ExAC TOPMed gnomAD
rs1318639492	891	L>H		No	gnomAD
rs747836740	894	T>A		No	ExAC gnomAD
rs34950321 VAR_055826	894	T>I		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM739213	895	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1033053228	896	P>L		No	TOPMed
rs777321676	896	P>S		No	ExAC gnomAD
rs1161908006	898	Y>*		No	Ensembl
rs1744019288	900	A>P		No	TOPMed gnomAD
rs1744019823	901	K>R		No	gnomAD
rs747453988	905	Q>*		No	ExAC gnomAD
rs771428666	905	Q>R		No	ExAC gnomAD
rs1580772538	908	Q>*		No	Ensembl
rs1172677175	908	Q>L		No	gnomAD
rs766653045	909	N>S		No	Ensembl
rs1394841187	910	K>R		No	TOPMed gnomAD
rs1466932310	911	S>P		No	gnomAD
rs777010489	912	T>A		No	ExAC gnomAD
rs1744022494	913	K>E		No	TOPMed
rs1744022709	913	K>T		No	gnomAD
rs146422169	914	F>C		No	ESP ExAC TOPMed gnomAD
rs1744023226	914	F>L		No	gnomAD
rs1744024060	915	M>I		No	Ensembl
rs1744024602	916	D>G		No	TOPMed
rs1744024336	916	D>N		No	TOPMed
rs1744024602	916	D>V		No	TOPMed
rs770245963	917	T>A		No	ExAC gnomAD
rs1580772644	917	T>N		No	Ensembl
COSM3617943	917	T>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1332091456	918	V>L		No	gnomAD
rs2150476828	922	L>Q		No	Ensembl
rs764260314	922	L>V		No	ExAC gnomAD
rs201385729	923	Y>C		No	1000Genomes ExAC TOPMed gnomAD
rs1744026561	924	N>Y		No	gnomAD
rs188847941	926	A>S		No	Ensembl
rs188847941	926	A>T		No	Ensembl
rs760624014 COSM1186783	927	S>C	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs760624014	927	S>F		No	ExAC TOPMed gnomAD
COSM167881 rs377130667	930	R>*	Variant assessed as Somatic; HIGH impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs138998729	930	R>Q		No	ESP ExAC TOPMed gnomAD
rs754696046	931	E>D		No	ExAC gnomAD
rs1744028664 COSM1070211	932	E>*	Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs778833520	932	E>A		No	ExAC gnomAD
rs778833520	932	E>G		No	ExAC gnomAD
rs1253259229	937	K>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1053371613	937	K>N		No	Ensembl
rs1744030791	940	K>E		No	Ensembl
TCGA novel	943	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1382782564	944	E>G		No	TOPMed gnomAD
rs1362571771	945	E>D		No	Ensembl
COSM739212	947	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1301472158	947	I>V		No	TOPMed
rs1424318147	948	K>E		No	TOPMed gnomAD
rs758060185	948	K>I		No	ExAC gnomAD
COSM450059	949	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1257805351	952	D>H		No	TOPMed
COSM40202 rs1257805351	952	D>N	central_nervous_system [Cosmic]	No	cosmic curated TOPMed
rs891398756	953	Q>H		No	TOPMed
rs752494336	953	Q>R		No	ExAC TOPMed gnomAD
rs777424257	955	Q>R		No	ExAC TOPMed gnomAD
rs1744347926	956	D>E		No	Ensembl
rs1030678633	956	D>G		No	TOPMed gnomAD
rs1279966927	956	D>H		No	gnomAD
rs2150484996	959	T>I		No	Ensembl
TCGA novel	960	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1284468106	960	G>S		No	TOPMed
rs751260799	962	P>L		No	ExAC TOPMed gnomAD
rs756692625	963	T>A		No	ExAC TOPMed gnomAD
rs1317575334	965	I>T		No	TOPMed
rs1323061021	968	V>L		No	TOPMed gnomAD
rs775261663	969	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1744351193	970	S>T		No	gnomAD
rs1488135216	971	F>L		No	gnomAD
rs746347958	972	N>S		No	ExAC gnomAD
rs1022204712	973	R>S		No	TOPMed gnomAD
rs1181837686	974	G>D		No	gnomAD
rs1181837686	974	G>V		No	gnomAD
rs1416348222	975	A>S		No	Ensembl
rs148082215	976	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1032391778	976	R>W		No	TOPMed gnomAD
rs1379928107	979	N>Y		No	gnomAD
rs774695836	980	T>I		No	ExAC gnomAD
rs1012236189	981	L>P		No	Ensembl
rs1414080925	982	R>C		No	TOPMed gnomAD
COSM145518 rs537445542	982	R>H	Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1221591523	984	L>F		No	gnomAD
rs759320505	984	L>H		No	ExAC TOPMed gnomAD
rs759320505	984	L>P		No	ExAC TOPMed gnomAD
rs374151074	988	V>G		No	ESP TOPMed
rs762713388	990	K>E		No	ExAC
rs1288570464	991	E>G		No	gnomAD
rs756993864	993	I>L		No	ExAC gnomAD
COSM3856349 rs138211969	994	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs138211969	994	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
COSM196385 rs780732890	995	D>N	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs780732890	995	D>Y		No	ExAC TOPMed gnomAD
rs749862045	997	S>*		No	ExAC TOPMed gnomAD
rs749862045	997	S>L		No	ExAC TOPMed gnomAD
rs1744360198	997	S>P		No	Ensembl
rs772339362	998	L>M		No	ExAC gnomAD
rs774980863	1000	I>N		No	gnomAD
rs773126027	1001	N>S		No	ExAC TOPMed gnomAD
TCGA novel	1001	N>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs747134078	1002	T>A		No	ExAC gnomAD
rs1377055169	1002	T>I		No	gnomAD
rs747134078	1002	T>P		No	ExAC gnomAD
rs201177978	1006	E>D		No	ExAC TOPMed gnomAD
rs560682248	1010	A>S		No	ExAC TOPMed gnomAD
rs1744364473	1014	Q>H		No	TOPMed
rs761304940	1015	L>V		No	ExAC TOPMed gnomAD
rs1237627889 COSM346815	1018	Q>*	lung [Cosmic]	No	cosmic curated gnomAD
rs767233990	1019	T>A		No	ExAC gnomAD
rs1744365502	1019	T>S		No	Ensembl
rs755630641	1020	G>R		No	ExAC TOPMed gnomAD
rs766028613	1020	G>V		No	ExAC gnomAD
rs754381501	1022	A>S		No	ExAC TOPMed gnomAD
rs754381501	1022	A>T		No	ExAC TOPMed gnomAD
rs1744367087	1022	A>V		No	TOPMed
rs1408117303	1023	S>N		No	gnomAD
rs1325196784	1024	K>E		No	TOPMed gnomAD
rs1325196784	1024	K>Q		No	TOPMed gnomAD
rs1351917328	1024	K>R		No	TOPMed gnomAD
rs753400106	1029	V>G		No	ExAC gnomAD
rs1210069131	1030	T>I		No	TOPMed gnomAD
rs376921394	1031	T>A		No	ESP ExAC TOPMed gnomAD
rs765791480	1031	T>I		No	ExAC gnomAD
rs1272184781	1032	E>*		No	TOPMed
rs1034445493	1033	Q>K		No	TOPMed gnomAD
rs753192577	1035	L>Q		No	ExAC gnomAD
rs1561577495	1035	L>V		No	Ensembl
rs1744532465	1036	T>P		No	Ensembl
rs1744533247	1038	P>L		No	TOPMed
rs758757717	1038	P>S		No	ExAC TOPMed gnomAD
rs1744533828	1040	V>M		No	Ensembl
rs1744534690	1042	N>I		No	TOPMed gnomAD
rs778064338	1045	E>D		No	ExAC TOPMed gnomAD
rs962206317	1046	A>S		No	TOPMed gnomAD
rs751795393	1046	A>V		No	ExAC
rs781182651	1048	I>M		No	ExAC TOPMed gnomAD
rs757485455	1048	I>T		No	ExAC TOPMed gnomAD
rs1580785554	1049	E>Q		No	Ensembl
TCGA novel	1051	L>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1744537339	1052	R>G		No	gnomAD
VAR_055827 RCV000974409 rs2287932	1052	R>I		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1489219545	1053	R>G		No	gnomAD
rs1185795567	1053	R>S		No	gnomAD
rs1392506269	1053	R>T		No	TOPMed
rs748079068	1055	T>A		No	ExAC gnomAD
rs145945229	1056	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs983106487	1057	K>T		No	TOPMed gnomAD
rs542306666	1060	N>I		No	1000Genomes ExAC TOPMed gnomAD
rs759095426	1060	N>K		No	ExAC
rs770735163	1060	N>Y		No	ExAC gnomAD
TCGA novel	1061	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs139792880	1062	I>V		No	ESP ExAC TOPMed gnomAD
TCGA novel	1063	I>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1744541737	1064	S>F		No	TOPMed
rs753242149	1069	L>R		No	ExAC gnomAD
TCGA novel	1070	P>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs200940839	1070	P>H		No	1000Genomes ExAC TOPMed gnomAD
rs200940839	1070	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1041362404	1070	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs777827442	1071	Y>C		No	ExAC TOPMed gnomAD
rs746982087	1076	I>L		No	ExAC TOPMed gnomAD
rs368432599	1076	I>T		No	ESP ExAC TOPMed gnomAD
rs746982087	1076	I>V		No	ExAC TOPMed gnomAD
rs745458568	1077	A>D		No	ExAC TOPMed gnomAD
rs745458568	1077	A>G		No	ExAC TOPMed gnomAD
rs1744581485	1077	A>T		No	TOPMed
rs745458568	1077	A>V		No	ExAC TOPMed gnomAD
rs1276232518	1079	V>I		No	gnomAD
rs775027919	1080	L>M		No	ExAC TOPMed gnomAD
rs748771675	1080	L>Q		No	ExAC gnomAD
rs768262402 COSM3617944	1083	S>L	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs371564584	1084	I>F		No	ESP ExAC gnomAD
rs1744584244	1084	I>T		No	gnomAD
rs1162409372	1086	E>Q		No	TOPMed
rs1744584995	1089	P>R		No	Ensembl
COSM1070212 rs760813383	1090	D>N	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1744585767	1091	A>T		No	TOPMed
rs151182090	1092	T>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1477514527	1092	T>R		No	gnomAD
rs2150491072	1093	E>K		No	Ensembl
COSM1070213	1094	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1744586624	1095	E>D		No	Ensembl
rs946432649	1096	L>I		No	Ensembl
rs772594993	1100	V>I		No	ExAC gnomAD
rs1580788448	1102	N>T		No	Ensembl
rs760921856	1105	Y>*		No	ExAC gnomAD
rs1744634262	1106	Y>C		No	TOPMed
rs1447856103	1107	R>Q		No	TOPMed
rs1312942955	1107	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1323114824	1108	Y>D		No	gnomAD
rs1744635497	1109	M>T		No	TOPMed
rs2150492415	1111	P>R		No	Ensembl
rs1744635752	1113	I>T		No	Ensembl
rs1744636296	1114	V>A		No	gnomAD
rs1008170518	1118	G>S		No	Ensembl
rs752828131	1123	D>E		No	ExAC TOPMed gnomAD
rs1338722154	1123	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes NCI-TCGA TOPMed gnomAD
rs1217901695	1124	M>R		No	gnomAD
rs1217901695	1124	M>T		No	gnomAD
rs1388137823	1125	T>A		No	TOPMed gnomAD
rs761803913	1125	T>I		No	ExAC TOPMed gnomAD
rs761803913	1125	T>R		No	ExAC TOPMed gnomAD
rs140188703	1126	A>T		No	ESP ExAC TOPMed gnomAD
rs1181386371	1126	A>V		No	gnomAD
rs750424463	1128	G>D		No	ExAC TOPMed gnomAD
rs1256995671 COSM232547	1128	G>S	skin [Cosmic]	No	cosmic curated gnomAD
rs1458608982	1129	Q>R		No	TOPMed
rs1744640490	1131	N>H		No	Ensembl
rs199960498	1131	N>T		No	1000Genomes ExAC gnomAD
rs201879277	1132	S>C		No	1000Genomes ExAC
COSM3617946	1134	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1136	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs778331576	1137	N>D		No	ExAC gnomAD
TCGA novel	1138	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1447258511	1141	V>L		No	gnomAD
rs771616801	1143	K>N		No	ExAC TOPMed gnomAD
rs747677672	1143	K>R		No	ExAC TOPMed gnomAD
rs1444120361	1144	V>F		No	TOPMed gnomAD
rs1444120361	1144	V>L		No	TOPMed gnomAD
TCGA novel	1145	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1070216 rs747615818	1148	A>T	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs777067440	1149	A>G		No	ExAC gnomAD
rs1464087470	1152	K>*		No	TOPMed
rs1310922940	1152	K>N		No	gnomAD
rs1580788899	1153	L>R		No	Ensembl
rs1744645675	1154	F>S		No	gnomAD
rs1216300258	1155	E>K		No	gnomAD
rs1744646338	1156	G>R		No	TOPMed
rs1462762969	1159	E>A		No	gnomAD
rs149940408	1159	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201262213	1160	H>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs775663540	1160	H>Y		No	ExAC gnomAD
COSM1070217	1161	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1178700111	1161	L>V		No	TOPMed gnomAD
COSM1438636	1162	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs764309617	1164	M>L		No	ExAC TOPMed gnomAD
rs764309617	1164	M>V		No	ExAC TOPMed gnomAD
rs1413828497	1170	E>G		No	gnomAD
rs1357620919	1170	E>Q		No	TOPMed gnomAD
rs530356624	1171	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs887297055	1172	Y>C		No	TOPMed gnomAD
rs1330208366	1173	Q>*		No	gnomAD
rs369959488	1173	Q>L		No	ESP ExAC TOPMed gnomAD
rs997625466	1174	E>Q		No	Ensembl
rs1003012380	1181	E>K		No	TOPMed
rs1580796024	1182	A>V		No	Ensembl
rs746419724	1183	C>R		No	ExAC TOPMed gnomAD
rs756544677	1183	C>Y		No	ExAC gnomAD
rs1478059559	1184	N>D		No	TOPMed gnomAD
rs10454915	1184	N>I		No	1000Genomes ESP ExAC TOPMed gnomAD
VAR_055828 rs10454915	1184	N>S		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs749943456	1185	V>A		No	Ensembl
rs749943456	1185	V>G		No	Ensembl
rs547104275	1186	P>L		No	1000Genomes TOPMed
rs142296855	1189	E>A		No	ESP ExAC TOPMed gnomAD
rs1282602512	1190	E>G		No	gnomAD
rs1433008748	1190	E>K		No	gnomAD
rs772081083	1191	K>*		No	ExAC TOPMed gnomAD
rs772081083	1191	K>E		No	ExAC TOPMed gnomAD
rs962730066	1191	K>T		No	TOPMed gnomAD
rs776544038	1192	F>C		No	ExAC TOPMed gnomAD
rs776544038	1192	F>S		No	ExAC TOPMed gnomAD
rs368996458	1194	M>I		No	ESP TOPMed
rs373729319	1194	M>V		No	ESP ExAC TOPMed gnomAD
rs1580796281	1198	T>A		No	Ensembl
rs1580796290	1198	T>I		No	Ensembl
rs985326694 COSM1070218	1199	D>N	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed
rs1263829767	1200	L>V		No	gnomAD
rs146071185	1201	V>G		No	ESP TOPMed
rs1280502923	1201	V>M		No	TOPMed gnomAD
rs1345469997	1203	V>A		No	TOPMed gnomAD
rs758193792	1203	V>I		No	ExAC TOPMed gnomAD
rs201192766	1204	S>G		No	1000Genomes ExAC TOPMed gnomAD
rs1165161837	1206	P>R		No	gnomAD
rs1472916985	1206	P>S		No	gnomAD
rs1387400603	1208	I>V		No	TOPMed gnomAD
rs1744909568	1209	Y>C		No	Ensembl
rs1744909998	1210	I>T		No	gnomAD
COSM3994450	1211	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1386350221	1212	I>T		No	gnomAD
rs761355317	1212	I>V		No	ExAC TOPMed gnomAD
COSM3828441	1214	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1332244072	1219	H>Q		No	gnomAD
rs767003612	1219	H>R		No	ExAC gnomAD
COSM3920344	1224	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1274200520	1226	Q>H		No	TOPMed gnomAD
rs1323563457	1227	D>Y		No	gnomAD
rs1395920295	1228	A>E		No	gnomAD
rs761227675	1228	A>T		No	ExAC gnomAD
rs1395920295	1228	A>V		No	gnomAD
rs767018839	1229	I>T		No	ExAC gnomAD
rs1255648162	1229	I>V		No	TOPMed gnomAD
rs941782319	1230	A>V		No	TOPMed gnomAD
rs754432801	1231	P>H		No	ExAC gnomAD
TCGA novel	1231	P>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1745450798	1233	K>*		No	TOPMed
rs1745450798	1233	K>E		No	TOPMed
rs373530105	1233	K>T		No	ESP TOPMed
rs1462532876	1236	L>S		No	TOPMed gnomAD
rs1197301502	1236	L>V		No	gnomAD
rs759961622	1237	L>V		No	TOPMed gnomAD
rs1297558812	1238	S>N		No	TOPMed
rs1340446289	1238	S>R		No	Ensembl
rs2150514030	1241	L>P		No	Ensembl
rs1745453862	1242	G>A		No	TOPMed
rs1298965607	1243	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs777788888	1244	L>P		No	ExAC TOPMed gnomAD
rs747113322	1246	E>K		No	ExAC gnomAD
rs534172535	1248	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs757375290	1248	P>S		No	ExAC gnomAD
rs757375290	1248	P>T		No	ExAC gnomAD
rs768487177	1249	T>A		No	ExAC gnomAD
rs1745456850	1249	T>I		No	Ensembl
rs768487177	1249	T>P		No	ExAC gnomAD
rs747772958	1250	V>G		No	ExAC gnomAD
rs185223948	1250	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1252714282	1251	E>*		No	TOPMed gnomAD
rs1481794422	1251	E>D		No	gnomAD
rs1252714282	1251	E>K		No	TOPMed gnomAD
rs1208461174	1254	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs747921263	1255	G>A		No	ExAC TOPMed gnomAD
rs771884178	1255	G>R		No	ExAC gnomAD
rs1359854665	1257	G>R		No	TOPMed gnomAD
rs1454282048	1258	A>T		No	gnomAD
COSM71187	1260	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1745509019	1261	P>S		No	Ensembl
rs1745509461	1262	N>D		No	gnomAD
rs1376426441	1262	N>S		No	TOPMed gnomAD
COSM6171489	1264	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs866729346	1264	P>S		No	Ensembl
rs141592712	1266	K>E		No	ESP ExAC TOPMed gnomAD
rs1745511598	1266	K>N		No	TOPMed
rs776006136	1269	T>A		No	ExAC TOPMed gnomAD
TCGA novel	1270	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1745512605	1271	S>C		No	Ensembl
rs1248671707	1271	S>I		No	gnomAD
rs1248671707	1271	S>N		No	gnomAD
rs1203752605	1271	S>R		No	TOPMed gnomAD
rs547879463	1273	L>P		No	1000Genomes ExAC TOPMed gnomAD
rs1316824435	1274	S>A		No	gnomAD
rs1745514666	1277	E>K		No	TOPMed
rs776113927	1278	I>V		No	ExAC gnomAD
rs1745515598	1279	S>Y		No	TOPMed
rs143650393	1286	Y>C		No	ESP TOPMed gnomAD
rs143650393	1286	Y>F		No	ESP TOPMed gnomAD
rs1745516594	1286	Y>H		No	TOPMed
rs1243999818	1287	D>V		No	gnomAD
rs764509321	1288	I>T		No	ExAC gnomAD
rs751768407	1289	E>Q		No	ExAC gnomAD
COSM6171488	1290	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs376614167	1291	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs750502210	1292	E>K		No	ExAC TOPMed gnomAD
rs1356876846	1294	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs921778430	1294	I>V		No	Ensembl
TCGA novel	1295	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1468854172	1297	R>*		No	gnomAD
COSM3617947 rs751786825	1297	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs147002427	1299	L>F		No	1000Genomes ExAC TOPMed gnomAD
rs987271594	1300	M>K		No	Ensembl
rs1476508326	1300	M>V		No	gnomAD
rs1157019880	1305	K>R		No	TOPMed gnomAD
rs1746444720	1306	L>M		No	gnomAD
rs1746445081	1306	L>P		No	gnomAD
COSM71188	1308	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1746446056	1309	D>G		No	gnomAD
rs758411105	1309	D>Y		No	ExAC TOPMed gnomAD
rs1366073402	1310	V>G		No	gnomAD
rs1746447215	1311	I>V		No	TOPMed
rs751420180	1312	R>Q		No	ExAC TOPMed gnomAD
rs373730789	1312	R>W		No	ESP ExAC TOPMed gnomAD
TCGA novel	1313	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1746449065	1316	G>R		No	TOPMed
rs745600734	1317	N>S		No	ExAC gnomAD
rs1293739772	1319	L>W		No	gnomAD
rs1214963890	1320	T>I		No	TOPMed
rs1214963890	1320	T>K		No	TOPMed
rs867872062	1321	E>K		No	Ensembl
TCGA novel	1322	I>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs367797221	1323	L>S		No	ESP ExAC
rs192621142	1324	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs192621142	1324	E>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1358229653	1326	P>S		No	TOPMed
rs1314835695	1327	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1453750367	1328	T>A		No	TOPMed gnomAD
rs148122303	1329	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs974210790	1331	Q>R		No	TOPMed
rs141880135	1333	V>A		No	ESP TOPMed
rs957070364	1334	D>G		No	TOPMed gnomAD
rs377308848	1335	H>R		No	ESP ExAC TOPMed gnomAD
rs1367969509	1337	T>A		No	gnomAD
rs1399521208	1337	T>M		No	TOPMed gnomAD
rs1399521208	1337	T>R		No	TOPMed gnomAD
rs1327172131	1338	D>N		No	gnomAD
rs868411683	1340	V>M		No	Ensembl
rs747156984	1342	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs771204773 COSM3073978	1342	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
COSM6171487	1342	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs777040445	1343	A>G		No	ExAC gnomAD
rs777040445	1343	A>V		No	ExAC gnomAD
rs765479028	1344	M>V		No	ExAC gnomAD
rs774416147	1345	I>M		No	ExAC gnomAD
rs1351387435	1345	I>V		No	gnomAD
TCGA novel rs1746643042	1347	S>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
COSM1070219	1347	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs761823475	1352	E>K		No	ExAC TOPMed gnomAD
rs61739347	1354	K>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs755675852	1355	H>R		No	ExAC gnomAD
rs750265016	1355	H>Y		No	ExAC TOPMed gnomAD
rs558485025	1356	S>R		No	1000Genomes ExAC gnomAD
rs748532757	1359	M>T		No	ExAC TOPMed gnomAD
rs778456583	1359	M>V		No	ExAC gnomAD
rs372408098	1360	I>T		No	ESP ExAC TOPMed gnomAD
rs1402543463	1360	I>V		No	gnomAD
rs1746647068	1362	D>G		No	TOPMed gnomAD
rs1746647301	1363	A>T		No	Ensembl
rs1405580305	1364	Q>*		No	gnomAD
rs1219875431	1365	L>P		No	TOPMed gnomAD
rs777947576	1366	P>L		No	ExAC gnomAD
rs1032528964	1370	K>Q		No	TOPMed gnomAD
rs747375256	1371	K>R		No	ExAC gnomAD
rs1238160102	1372	R>G		No	gnomAD
rs1221121906	1375	Q>H		No	gnomAD
rs776987456	1375	Q>P		No	ExAC gnomAD
rs750181665	1378	L>F		No	ExAC TOPMed gnomAD
rs750181665	1378	L>I		No	ExAC TOPMed gnomAD
rs775716632	1378	L>P		No	ExAC gnomAD
rs750181665	1378	L>V		No	ExAC TOPMed gnomAD
COSM5403843 rs767513992	1379	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
VAR_055829 RCV000974410 rs17681908	1379	R>W		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs561087982	1380	T>M		No	1000Genomes ExAC
rs1746653384	1381	L>S		No	TOPMed
rs766232680	1382	E>*		No	ExAC TOPMed gnomAD
rs766232680	1382	E>K		No	ExAC TOPMed gnomAD
rs2150544918	1383	Q>*		No	Ensembl
rs1746653991	1383	Q>R		No	Ensembl
rs1746655072	1387	V>A		No	TOPMed
rs542779043	1387	V>M		No	1000Genomes ExAC TOPMed gnomAD
COSM3073982	1389	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs758403979	1390	E>K		No	ExAC TOPMed gnomAD
rs1580843233	1391	N>K		No	Ensembl
rs1176476519	1394	Q>E		No	TOPMed gnomAD
rs1337442399	1396	I>S		No	gnomAD
rs1403092826	1398	N>D		No	gnomAD
rs139757749	1398	N>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2150545082	1399	E>G		No	1000Genomes
TCGA novel	1399	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs373452467	1400	I>T		No	ESP ExAC TOPMed gnomAD
rs1746661766	1401	A>D		No	Ensembl
rs1746661386	1401	A>T		No	Ensembl
COSM3856353	1403	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2150550649	1403	D>N		No	Ensembl
rs781648589	1404	I>S		No	ExAC TOPMed gnomAD
rs750847318	1405	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs189501812 COSM1070222	1405	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1561606110	1407	Q>R		No	Ensembl
TCGA novel	1408	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs780298592	1408	R>S		No	ExAC gnomAD
rs1746913218	1408	R>T		No	TOPMed
rs545496602	1409	I>T		No	1000Genomes ExAC gnomAD
rs1442571368	1410	Y>C		No	gnomAD
rs1374529424	1410	Y>H		No	gnomAD
rs768773573 COSM196393	1411	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1366074313	1411	R>H		No	TOPMed gnomAD
rs768773573	1411	R>S		No	ExAC TOPMed gnomAD
rs778859543	1412	K>N		No	ExAC gnomAD
rs1286594449 COSM1070223	1414	R>*	Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1383698178	1414	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1746916275	1416	A>D		No	Ensembl
TCGA novel	1417	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs746905038	1417	E>D		No	ExAC gnomAD
TCGA novel	1418	L>F	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1297292840	1418	L>V		No	TOPMed gnomAD
rs1393297662	1418	L>W		No	TOPMed gnomAD
rs867323059	1419	A>T		No	Ensembl
COSM3856354	1421	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1373430056	1421	L>V		No	TOPMed gnomAD
rs2150550835	1423	Q>K		No	Ensembl
rs1172731947	1424	T>S		No	Ensembl
rs1746918584	1424	T>S		No	TOPMed
rs1435081505	1425	L>V		No	TOPMed gnomAD
rs1561606289	1426	N>K		No	Ensembl
rs1314851462	1428	L>F		No	gnomAD
rs759306787	1429	N>H		No	ExAC gnomAD
rs775205854	1430	K>Q		No	ExAC gnomAD
rs181359610	1432	A>E		No	1000Genomes ExAC gnomAD
rs144434710	1433	A>T		No	ESP ExAC TOPMed gnomAD
rs1746921645	1435	Y>F		No	Ensembl
COSM3617948	1436	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs773756229	1438	Q>K		No	ExAC TOPMed gnomAD
rs1746922744	1439	I>V		No	Ensembl
rs1746923005	1440	N>D		No	Ensembl
rs1484460404	1440	N>S		No	TOPMed
TCGA novel	1443	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs768104807	1444	T>A		No	ExAC TOPMed gnomAD
rs369078465 VAR_069434	1445	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1746924655	1448	T>I		No	TOPMed gnomAD
rs1746924655	1448	T>S		No	TOPMed gnomAD
rs1042673220	1449	C>S		No	gnomAD
rs756532259	1451	D>G		No	ExAC TOPMed gnomAD
rs1036106307	1451	D>H		No	TOPMed
rs766718105	1452	N>K		No	ExAC gnomAD
rs1194624539	1452	N>S		No	TOPMed gnomAD
rs1746927320	1453	L>I		No	Ensembl
rs1746995686	1455	R>G		No	TOPMed
COSM1070224	1455	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1300014157	1456	K>N		No	TOPMed gnomAD
rs531851057	1456	K>T		No	1000Genomes ExAC TOPMed gnomAD
rs1747339890	1458	T>A		No	Ensembl
rs932601424	1458	T>I		No	gnomAD
rs932601424	1458	T>N		No	gnomAD
rs932601424	1458	T>S		No	gnomAD
rs34592828	1459	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs773849577	1459	R>W		No	ExAC TOPMed gnomAD
COSM1070225	1460	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs769499583	1462	I>T		No	TOPMed gnomAD
rs766704578	1462	I>V		No	ExAC TOPMed gnomAD
rs1011309137	1463	K>N		No	Ensembl
TCGA novel	1465	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1021393600	1465	D>V		No	TOPMed gnomAD
rs1409441499	1465	D>Y		No	TOPMed gnomAD
COSM71189	1466	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1747343160	1466	G>R		No	TOPMed
rs866114052	1468	G>R		No	Ensembl
rs780230600	1469	E>D		No	ExAC TOPMed gnomAD
rs570844220	1469	E>K		No	ExAC TOPMed gnomAD
rs1419638742	1470	P>L		No	TOPMed
rs1419638742	1470	P>R		No	TOPMed
TCGA novel	1471	K>Q	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1747345487	1472	G>E		No	TOPMed
rs758469927	1472	G>R		No	ExAC gnomAD
rs745748799	1473	A>E		No	ExAC TOPMed gnomAD
rs777836139 COSM4793661	1473	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs745748799	1473	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1179663369	1475	R>I		No	TOPMed gnomAD
rs142120814	1476	A>E		No	ESP ExAC TOPMed gnomAD
rs142120814	1476	A>G		No	ESP ExAC TOPMed gnomAD
COSM268410	1476	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs142120814	1476	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1561611381	1478	P>L		No	Ensembl
rs747874423	1478	P>S		No	ExAC TOPMed gnomAD
rs747874423	1478	P>T		No	ExAC TOPMed gnomAD
rs771638648	1479	V>E		No	ExAC gnomAD
rs1266081143 COSM1544099 COSM6171485	1479	V>L	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD
rs772859237	1482	T>A		No	ExAC gnomAD
rs1407903637	1484	A>G		No	gnomAD
rs771314929	1485	K>E		No	ExAC gnomAD
rs777247541	1485	K>N		No	ExAC TOPMed gnomAD
rs752852157	1487	H>Q		No	ExAC gnomAD
rs765659502	1487	H>R		No	ExAC TOPMed gnomAD
rs1747352084	1489	K>E		No	TOPMed
rs2150561433	1491	V>F		No	Ensembl
rs370452996	1493	L>R		No	ESP ExAC gnomAD
rs1747352892	1495	I>C		No	gnomAD
rs779833868	1496	D>N		No	ExAC TOPMed gnomAD
COSM3617949	1497	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1307874410	1497	D>V		No	TOPMed gnomAD
rs147860676	1498	L>F		No	ESP ExAC TOPMed gnomAD
rs950972227	1498	L>R		No	TOPMed gnomAD
rs972879133	1499	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs1747355028	1499	Q>P		No	TOPMed
rs1248004676	1500	T>I		No	gnomAD
rs1248004676	1500	T>R		No	gnomAD
rs1474217942	1501	N>D		No	gnomAD
rs1747356473	1501	N>K		No	Ensembl
rs199687430	1501	N>S		No	ESP ExAC gnomAD
rs1730674628	1502	Q>*		No	Ensembl
rs1580864786	1503	F>L		No	Ensembl
rs1747490524	1504	K>N		No	gnomAD
rs1747490747	1505	N>S		No	TOPMed
rs1317776711	1506	V>I		No	TOPMed gnomAD
rs1747491184	1507	T>A		No	TOPMed gnomAD
rs771788296	1507	T>I		No	Ensembl
rs141420081	1508	F>C		No	ESP gnomAD
rs1747492209	1509	D>V		No	gnomAD
rs1381770102	1511	I>L		No	TOPMed gnomAD
rs982619434	1511	I>T		No	TOPMed
rs1381770102	1511	I>V		No	TOPMed gnomAD
rs368828240	1512	A>T		No	ESP ExAC gnomAD
rs1347869269	1515	D>E		No	gnomAD
rs752568445	1515	D>G		No	ExAC TOPMed gnomAD
rs752568445	1515	D>V		No	ExAC TOPMed gnomAD
rs1747494193	1515	D>Y		No	TOPMed
rs547415830	1516	V>A		No	TOPMed gnomAD
rs547415830	1516	V>E		No	TOPMed gnomAD
rs1387882725	1516	V>I		No	TOPMed gnomAD
rs1747495627	1518	I>N		No	Ensembl
rs758320677	1519	F>L		No	ExAC TOPMed gnomAD
rs536482916	1520	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs536482916	1520	D>Y		No	1000Genomes ExAC TOPMed gnomAD
rs1369927594	1521	V>E		No	TOPMed gnomAD
rs371330018	1522	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA
rs1426419756	1523	S>L		No	TOPMed
rs546870034	1523	S>P		No	1000Genomes ExAC gnomAD
rs368752328	1524	K>E		No	Ensembl
rs1197829365	1526	L>F		No	TOPMed gnomAD
COSM1070226	1526	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
VAR_069435 rs150409607	1530	M>I		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1241621092	1530	M>L		No	gnomAD
rs201571668	1531	E>G		No	ExAC TOPMed gnomAD
rs145165340	1532	K>N		No	ESP ExAC gnomAD
rs920557708	1534	Q>*		No	TOPMed
rs375336707	1534	Q>H		No	ESP ExAC TOPMed gnomAD
COSM1329445	1535	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs762098638	1536	N>D		No	ExAC gnomAD
rs201167699 COSM3410417	1536	N>S	central_nervous_system [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs933678254	1538	Q>E		No	Ensembl
rs538964606	1538	Q>H		No	1000Genomes ExAC TOPMed gnomAD
rs768228449	1539	D>G		No	ExAC TOPMed gnomAD
rs1561618869 COSM5403844	1539	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs768228449	1539	D>V		No	ExAC TOPMed gnomAD
rs1006076260	1541	L>F		No	TOPMed gnomAD
rs1487264821	1543	M>R		No	gnomAD
rs1331309086	1543	M>V		No	gnomAD
rs1235040363	1544	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs202207724	1545	Y>C		No	ESP ExAC TOPMed gnomAD
rs1420633979	1547	G>R		No	TOPMed gnomAD
COSM3617950	1551	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1276016886	1551	M>L		No	gnomAD
rs767176823	1555	D>G		No	ExAC gnomAD
rs750133277	1556	K>M		No	ExAC TOPMed gnomAD
rs750133277	1556	K>T		No	ExAC TOPMed gnomAD
rs1411128599	1557	V>F		No	gnomAD
rs1411128599	1557	V>I		No	gnomAD
COSM4876680	1557	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs779541953	1558	K>E		No	ExAC gnomAD
rs1747988124	1559	V>L		No	gnomAD
rs1747988402	1561	V>I		No	TOPMed
rs1247786054	1562	N>S		No	TOPMed
rs754284130	1563	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs868332544	1564	L>F		No	Ensembl
rs1475501302	1565	I>K		No	gnomAD
rs372834701	1567	L>V		No	ESP ExAC gnomAD
rs748511061	1568	L>M		No	ExAC gnomAD
rs1747991983	1569	N>D		No	TOPMed
rs1747992324	1570	K>E		No	Ensembl
rs1747992702	1570	K>R		No	Ensembl
rs772367523	1572	F>L		No	ExAC gnomAD
rs1169027538	1572	F>V		No	gnomAD
rs1301980512	1573	Y>C		No	gnomAD
rs1422728348	1573	Y>H		No	TOPMed gnomAD
rs1422728348	1573	Y>N		No	TOPMed gnomAD
COSM4398288	1574	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1747994102	1576	K>G		No	Ensembl

1 associated diseases with Q13576

[MIM: 600919]: Long QT syndrome 4 (LQT4)

A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 4 shows many atypical features compared to classical long QT syndromes, including pronounced sinus bradycardia, polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical LQT syndromes and prolonged QT interval on EKG is not a consistent feature. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 4 shows many atypical features compared to classical long QT syndromes, including pronounced sinus bradycardia, polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical LQT syndromes and prolonged QT interval on EKG is not a consistent feature. . Note=The disease is caused by variants affecting the gene represented in this entry.

15 regional properties for Q13576

Type	Name	Position	InterPro Accession
domain	Death domain	3559 - 3653	IPR000488
domain	ZU5 domain	966 - 1156	IPR000906-1
domain	ZU5 domain	1158 - 1304	IPR000906-2
repeat	Ankyrin repeat	30 - 128	IPR002110-1
repeat	Ankyrin repeat	129 - 161	IPR002110-2
repeat	Ankyrin repeat	162 - 190	IPR002110-3
repeat	Ankyrin repeat	191 - 264	IPR002110-4
repeat	Ankyrin repeat	259 - 330	IPR002110-5
repeat	Ankyrin repeat	331 - 462	IPR002110-6
repeat	Ankyrin repeat	463 - 561	IPR002110-7
repeat	Ankyrin repeat	562 - 594	IPR002110-8
repeat	Ankyrin repeat	595 - 693	IPR002110-9
repeat	Ankyrin repeat	694 - 726	IPR002110-10
repeat	Ankyrin repeat	727 - 792	IPR002110-11
domain	Ankyrin, UPA domain	1324 - 1453	IPR040745

Functions

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

12 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
cell cortex	The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
cell surface	The external part of the cell wall and/or plasma membrane.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
filopodium	Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft.
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
microtubule	Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
microvillus	Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
secretory granule membrane	The lipid bilayer surrounding a secretory granule.

8 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
actin filament binding	Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
Arp2/3 complex binding	Binding to an Arp2/3 complex, a protein complex that contains two actin-related proteins, Arp2 and Arp3, and five novel proteins (ARPC1-5).
calmodulin binding	Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
GTPase inhibitor activity	Stops, prevents or reduces the activity of any enzyme that catalyzes the hydrolysis of GTP to GDP and orthophosphate.
phosphatidylinositol-3,4,5-trisphosphate binding	Binding to phosphatidylinositol-3,4,5-trisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3', 4' and 5' positions.
small GTPase binding	Binding to a small monomeric GTPase.

5 GO annotations of biological process

Name	Definition
Arp2/3 complex-mediated actin nucleation	The actin nucleation process in which actin monomers combine to form a new branch on the side of an existing actin filament; mediated by the Arp2/3 protein complex and its interaction with other proteins.
mitotic actomyosin contractile ring assembly actin filament organization	Any actin filament organization that is involved in mitotic actomyosin contractile ring assembly.
regulation of actin cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
thrombin-activated receptor signaling pathway	A G protein-coupled receptor signaling pathway initiated by thrombin binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q86VI3	IQGAP3	Ras GTPase-activating-like protein IQGAP3	Homo sapiens (Human)	SS
P46940	IQGAP1	Ras GTPase-activating-like protein IQGAP1	Homo sapiens (Human)	EV
Q9JKF1	Iqgap1	Ras GTPase-activating-like protein IQGAP1	Mus musculus (Mouse)	SS
Q3UQ44	Iqgap2	Ras GTPase-activating-like protein IQGAP2	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MPHEELPSLQ	RPRYGSIVDD	ERLSAEEMDE	RRRQNIAYEY	LCHLEEAKRW	MEVCLVEELP
70	80	90	100	110	120
PTTELEEGLR	NGVYLAKLAK	FFAPKMVSEK	KIYDVEQTRY	KKSGLHFRHT	DNTVQWLRAM
130	140	150	160	170	180
ESIGLPKIFY	PETTDVYDRK	NIPRMIYCIH	ALSLYLFKLG	IAPQIQDLLG	KVDFTEEEIS
190	200	210	220	230	240
NMRKELEKYG	IQMPSFSKIG	GILANELSVD	EAALHAAVIA	INEAVEKGIA	EQTVVTLRNP
250	260	270	280	290	300
NAVLTLVDDN	LAPEYQKELW	DAKKKKEENA	RLKNSCISEE	ERDAYEELLT	QAEIQGNINK
310	320	330	340	350	360
VNRQAAVDHI	NAVIPEGDPE	NTLLALKKPE	AQLPAVYPFA	AAMYQNELFN	LQKQNTMNYL
370	380	390	400	410	420
AHEELLIAVE	MLSAVALLNQ	ALESNDLVSV	QNQLRSPAIG	LNNLDKAYVE	RYANTLLSVK
430	440	450	460	470	480
LEVLSQGQDN	LSWNEIQNCI	DMVNAQIQEE	NDRVVAVGYI	NEAIDEGNPL	RTLETLLLPT
490	500	510	520	530	540
ANISDVDPAH	AQHYQDVLYH	AKSQKLGDSE	SVSKVLWLDE	IQQAVDDANV	DKDRAKQWVT
550	560	570	580	590	600
LVVDVNQCLE	GKKSSDILSV	LKSSTSNAND	IIPECADKYY	DALVKAKELK	SERVSSDGSW
610	620	630	640	650	660
LKLNLHKKYD	YYYNTDSKES	SWVTPESCLY	KESWLTGKEI	EDIIEEVTVG	YIRENIWSAS
670	680	690	700	710	720
EELLLRFQAT	SSGPILREEF	EARKSFLHEQ	EENVVKIQAF	WKGYKQRKEY	MHRRQTFIDN
730	740	750	760	770	780
TDSIVKIQSW	FRMATARKSY	LSRLQYFRDH	NNEIVKIQSL	LRANKARDDY	KTLVGSENPP
790	800	810	820	830	840
LTVIRKFVYL	LDQSDLDFQE	ELEVARLREE	VVTKIRANQQ	LEKDLNLMDI	KIGLLVKNRI
850	860	870	880	890	900
TLEDVISHSK	KLNKKKGGEM	EILNNTDNQG	IKSLSKERRK	TLETYQQLFY	LLQTNPLYLA
910	920	930	940	950	960
KLIFQMPQNK	STKFMDTVIF	TLYNYASNQR	EEYLLLKLFK	TALEEEIKSK	VDQVQDIVTG
970	980	990	1000	1010	1020
NPTVIKMVVS	FNRGARGQNT	LRQLLAPVVK	EIIDDKSLII	NTNPVEVYKA	WVNQLETQTG
1030	1040	1050	1060	1070	1080
EASKLPYDVT	TEQALTYPEV	KNKLEASIEN	LRRVTDKVLN	SIISSLDLLP	YGLRYIAKVL
1090	1100	1110	1120	1130	1140
KNSIHEKFPD	ATEDELLKIV	GNLLYYRYMN	PAIVAPDGFD	IIDMTAGGQI	NSDQRRNLGS
1150	1160	1170	1180	1190	1200
VAKVLQHAAS	NKLFEGENEH	LSSMNNYLSE	TYQEFRKYFK	EACNVPEPEE	KFNMDKYTDL
1210	1220	1230	1240	1250	1260
VTVSKPVIYI	SIEEIISTHS	LLLEHQDAIA	PEKNDLLSEL	LGSLGEVPTV	ESFLGEGAVD
1270	1280	1290	1300	1310	1320
PNDPNKANTL	SQLSKTEISL	VLTSKYDIED	GEAIDSRSLM	IKTKKLIIDV	IRNQPGNTLT
1330	1340	1350	1360	1370	1380
EILETPATAQ	QEVDHATDMV	SRAMIDSRTP	EEMKHSQSMI	EDAQLPLEQK	KRKIQRNLRT
1390	1400	1410	1420	1430	1440
LEQTGHVSSE	NKYQDILNEI	AKDIRNQRIY	RKLRKAELAK	LQQTLNALNK	KAAFYEEQIN
1450	1460	1470	1480	1490	1500
YYDTYIKTCL	DNLKRKNTRR	SIKLDGKGEP	KGAKRAKPVK	YTAAKLHEKG	VLLDIDDLQT
1510	1520	1530	1540	1550	1560
NQFKNVTFDI	IATEDVGIFD	VRSKFLGVEM	EKVQLNIQDL	LQMQYEGVAV	MKMFDKVKVN
1570
VNLLIYLLNK	KFYGK