AiPD: Autoinhibited Protein Database

Q86VI3

Gene name	IQGAP3
Protein name	Ras GTPase-activating-like protein IQGAP3
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:128239
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)

1260-1631 (C2 fragments) SS

Target domain	941-1258 (C1 fragments)
Relief mechanism	PTM
Assay

AID

1260-1631 (C2 fragments)

Target domain

941-1258 (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

2 structures for Q86VI3

Entry ID	Method	Resolution	Chain	Position	Source
3ISU	X-ray	188 A	A	1529-1631	PDB
AF-Q86VI3-F1	Predicted				AlphaFoldDB

1772 variants for Q86VI3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	2	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2102455812	2	E>Q		No	Ensembl
rs866328046	3	R>G		No	Ensembl
rs1281557043	3	R>K		No	TOPMed gnomAD
rs1341881815	4	R>K		No	TOPMed gnomAD
rs932935898	5	A>E		No	TOPMed gnomAD
rs932935898	5	A>V		No	TOPMed gnomAD
rs768894935	6	A>P		No	ExAC gnomAD
rs1676692900	7	G>R		No	Ensembl
rs531981978	8	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs1183272664	9	G>A		No	gnomAD
TCGA novel	9	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs60225867	10	W>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1389393113	11	A>E		No	TOPMed
rs1210021803	12	A>V		No	gnomAD
rs781164390	13	Y>*		No	ExAC TOPMed gnomAD
rs2102450962	13	Y>*		No	Ensembl
rs148871247	15	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs148871247	15	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs367752070	15	R>H		No	ESP TOPMed gnomAD
TCGA novel	15	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs779647746	16	L>F		No	ExAC gnomAD
rs757801551	17	T>A		No	ExAC TOPMed gnomAD
rs2102450896	19	E>G		No	Ensembl
rs750137711	19	E>K		No	ExAC gnomAD
rs201658678	20	E>A		No	1000Genomes ExAC TOPMed gnomAD
rs1676543753	20	E>K		No	TOPMed gnomAD
rs1676543753	20	E>Q		No	TOPMed gnomAD
rs1260169111	21	M>I		No	TOPMed gnomAD
rs757752155	21	M>T		No	ExAC gnomAD
rs1387093904	21	M>V		No	gnomAD
rs1676542941	22	D>E		No	TOPMed
rs754265184	22	D>V		No	ExAC gnomAD
rs1458059887	22	D>Y		No	Ensembl
rs1220499267	23	E>G		No	TOPMed
rs1676542841	23	E>K		No	TOPMed
rs761273643	24	Q>H		No	ExAC gnomAD
rs1295772928	25	R>K		No	TOPMed gnomAD
rs767683631	26	R>Q		No	ExAC TOPMed gnomAD
rs148426263	26	R>W		No	ESP ExAC gnomAD
rs2102450808	27	Q>E		No	Ensembl
rs2102450802	27	Q>R		No	Ensembl
rs1434078005	28	N>S		No	gnomAD
rs1178912421	28	N>Y		No	gnomAD
rs774622935	31	Y>C		No	ExAC TOPMed gnomAD
rs530821917	32	Q>H		No	1000Genomes gnomAD
rs776493447	34	L>P		No	ExAC gnomAD
rs893507508	35	C>R		No	gnomAD
rs1233940945	36	R>L		No	TOPMed gnomAD
rs1233940945	36	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs551482367	36	R>W		No	1000Genomes ExAC TOPMed gnomAD
COSM897259	38	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1571370259	38	E>G		No	Ensembl
rs368406317	40	A>S		No	ESP TOPMed gnomAD
rs1411261123	41	K>E		No	gnomAD
rs746993160	41	K>R		No	ExAC TOPMed gnomAD
rs370931618 COSM5965973	42	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs771675136	42	R>H		No	ExAC TOPMed gnomAD
rs771675136	42	R>L		No	ExAC TOPMed gnomAD
rs778596804	44	M>L		No	ExAC TOPMed gnomAD
rs1368477108	44	M>R		No	TOPMed
rs778596804	44	M>V		No	ExAC TOPMed gnomAD
rs1016274723	45	E>G		No	TOPMed gnomAD
rs1676406660	49	K>R		No	Ensembl
rs1676406526	50	E>Q		No	TOPMed
rs376361908	52	L>I		No	ESP ExAC TOPMed gnomAD
COSM4469236	53	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1244544731	54	S>F		No	TOPMed gnomAD
rs1244544731	54	S>Y		No	TOPMed gnomAD
rs149238952	55	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs200461130	56	V>A		No	gnomAD
rs200461130	56	V>G		No	gnomAD
rs752990347	57	E>*		No	ExAC gnomAD
rs781563503	57	E>V		No	ExAC gnomAD
rs1318141733	59	E>K		No	gnomAD
rs1437948376	61	S>I		No	gnomAD
rs1399334532	62	L>F		No	gnomAD
rs376578286	63	R>L		No	ESP ExAC TOPMed gnomAD
COSM3689053 rs376578286	63	R>Q	large_intestine [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs369044095	63	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1676404107	64	N>K		No	Ensembl
rs766471433	65	G>*		No	ExAC gnomAD
rs2102445155	67	L>M		No	Ensembl
rs758455239	69	A>S		No	ExAC TOPMed gnomAD
rs758455239	69	A>T		No	ExAC TOPMed gnomAD
rs145944309	70	K>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs145944309	70	K>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs765360932	70	K>R		No	ExAC TOPMed gnomAD
rs765360932	70	K>T		No	ExAC TOPMed gnomAD
rs1221340311	71	L>I		No	gnomAD
rs2102445068	73	H>L		No	Ensembl
rs1242244189	75	F>L		No	TOPMed gnomAD
rs200654648	76	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs767378325	77	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs770604495	79	V>L		No	ExAC TOPMed gnomAD
rs770604495	79	V>M		No	ExAC TOPMed gnomAD
rs1429012310	80	V>L		No	gnomAD
rs1333216159	81	P>A		No	gnomAD
rs748745116	81	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs748745116	81	P>R		No	ExAC TOPMed gnomAD
rs530408154	84	K>N		No	1000Genomes ExAC TOPMed gnomAD
rs1413566910	84	K>T		No	TOPMed gnomAD
TCGA novel	85	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1410621515	86	Y>C		No	gnomAD
COSM3802215 rs148959897	87	D>N	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP NCI-TCGA gnomAD
rs148959897	87	D>Y		No	ESP gnomAD
rs755289258	90	Q>R		No	ExAC gnomAD
rs191829043	92	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs191829043	92	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1198231259	92	R>W		No	gnomAD
rs1462827689	93	Y>C		No	TOPMed gnomAD
rs1177449427	95	A>E		No	TOPMed gnomAD
rs1177449427	95	A>V		No	TOPMed gnomAD
rs769053075	96	T>A		No	ExAC gnomAD
rs1014198749	98	L>*		No	Ensembl
rs376756901	99	H>L		No	ESP ExAC TOPMed gnomAD
rs1444694683	101	R>C		No	TOPMed gnomAD
rs373490687	101	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs575492533	102	H>R		No	1000Genomes ExAC gnomAD
rs1676387154	103	T>A		No	TOPMed
COSM240245 rs1052780253	103	T>I	prostate [Cosmic]	No	cosmic curated Ensembl
rs1676386763	105	N>D		No	TOPMed
rs778878191	106	I>M		No	ExAC TOPMed gnomAD
rs1676385774	109	W>*		No	TOPMed gnomAD
rs754152519	109	W>R		No	ExAC TOPMed gnomAD
rs1221749675	111	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs759792447	113	I>M		No	ExAC TOPMed gnomAD
rs1247791465	113	I>V		No	TOPMed gnomAD
rs754878469	114	A>T		No	ExAC TOPMed gnomAD
rs1390624682	115	H>R		No	gnomAD
rs750328555	116	I>M		No	ExAC TOPMed gnomAD
rs751413751	116	I>V		No	ExAC TOPMed gnomAD
rs369563581	117	G>S		No	ESP ExAC TOPMed gnomAD
TCGA novel	119	P>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs200320829	120	S>L		No	ESP ExAC TOPMed gnomAD
rs1240535196	121	T>A		No	gnomAD
rs1676320605	121	T>I		No	TOPMed gnomAD
rs1676320081	125	E>D		No	TOPMed
rs1470041494	125	E>G		No	gnomAD
rs372347970	126	T>I		No	ESP ExAC TOPMed gnomAD
rs372347970	126	T>N		No	ESP ExAC TOPMed gnomAD
rs775099100	127	T>M		No	ExAC TOPMed gnomAD
rs1676319570	129	I>M		No	gnomAD
rs951778510	130	Y>C		No	TOPMed gnomAD
rs951778510	130	Y>S		No	TOPMed gnomAD
rs947246739	132	K>R		No	TOPMed gnomAD
rs1161045193	135	M>I		No	Ensembl
rs1676318739	135	M>V		No	TOPMed
rs758978971	136	P>L		No	Ensembl
rs1025994538	136	P>S		No	TOPMed gnomAD
rs749747273	137	R>P		No	ExAC TOPMed gnomAD
rs749747273 COSM1334871	137	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs777078133	137	R>W		No	ExAC gnomAD
rs1676317671	138	V>I		No	Ensembl
rs753196278	139	V>A		No	Ensembl
rs769947367	139	V>L		No	ExAC TOPMed gnomAD
rs555005068	141	C>S		No	TOPMed
rs748433036	142	I>M		No	ExAC gnomAD
rs781448684	143	H>N		No	ExAC TOPMed gnomAD
rs1428257441	143	H>R		No	TOPMed gnomAD
rs745666241	145	L>F		No	ExAC TOPMed gnomAD
rs745666241	145	L>V		No	ExAC TOPMed gnomAD
rs1287209138	146	S>G		No	TOPMed
rs1022129918	148	F>S		No	TOPMed gnomAD
rs1676278163	149	L>P		No	TOPMed gnomAD
rs371540662	151	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs371540662	151	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs374074645	151	R>W		No	ESP ExAC TOPMed gnomAD
rs1335817792	153	G>E		No	gnomAD
rs757020213	153	G>R		No	ExAC TOPMed gnomAD
rs1326188003	154	L>F		No	Ensembl
rs749261098	155	A>S		No	ExAC TOPMed gnomAD
rs749261098	155	A>T		No	ExAC TOPMed gnomAD
rs1005212443	156	P>L		No	TOPMed
rs1557945660	156	P>S		No	Ensembl
rs1394891988	157	Q>L		No	TOPMed gnomAD
rs1339292454	158	I>V		No	TOPMed gnomAD
rs755677219	160	D>G		No	ExAC TOPMed gnomAD
rs1676275384	162	Y>C		No	Ensembl
rs1676275513	162	Y>H		No	TOPMed
rs1471321151	163	G>R		No	TOPMed gnomAD
rs1471321151	163	G>W		No	TOPMed gnomAD
rs1557945618	164	K>Q		No	Ensembl
rs779851352	170	E>G		No	ExAC TOPMed gnomAD
rs1291939876	170	E>K		No	gnomAD
rs1475773379	173	S>G		No	TOPMed
rs1317882041	175	M>I		No	gnomAD
rs778011888	175	M>V		No	ExAC TOPMed gnomAD
rs1476166580	176	A>T		No	TOPMed
rs745848033	176	A>V		No	TOPMed gnomAD
rs2102439144	177	S>C		No	Ensembl
rs200764066 COSM4023316	178	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs775745515	179	L>R		No	ExAC TOPMed gnomAD
rs772293409	181	K>T		No	ExAC gnomAD
rs759687051	182	Y>F		No	ExAC
rs1676264870	184	L>F		No	TOPMed gnomAD
rs150881304	185	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ESP NCI-TCGA
rs1676264412	187	P>R		No	Ensembl
rs146347973	189	F>L		No	ESP ExAC TOPMed gnomAD
rs142363101	190	S>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1294216589	190	S>R		No	TOPMed
rs142363101	190	S>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs746490813	191	K>N		No	ExAC TOPMed gnomAD
rs376090864	192	I>F		No	ESP ExAC gnomAD
rs200795481	193	G>R		No	ESP ExAC TOPMed gnomAD
rs200795481	193	G>W		No	ESP ExAC TOPMed gnomAD
rs779464541	194	G>D		No	ExAC TOPMed gnomAD
rs1270050876	195	I>L		No	gnomAD
rs1217187114	197	A>V		No	gnomAD
rs754429608	198	N>K		No	ExAC TOPMed gnomAD
rs1347556342	198	N>S		No	TOPMed gnomAD
rs886271553	200	L>F		No	gnomAD
rs780118455	201	S>L		No	ExAC TOPMed gnomAD
rs1447843962	201	S>T		No	TOPMed gnomAD
rs752788797	202	V>L		No	ExAC TOPMed gnomAD
rs752788797	202	V>M		No	ExAC TOPMed gnomAD
rs774524776	203	D>G		No	ExAC gnomAD
rs767537225	203	D>N		No	ExAC gnomAD
rs774524776	203	D>V		No	ExAC gnomAD
rs1676260517	204	E>D		No	TOPMed
rs1676260398	205	A>G		No	gnomAD
rs769678753	206	A>E		No	ExAC TOPMed gnomAD
rs1168203578	206	A>T		No	gnomAD
rs769678753	206	A>V		No	ExAC TOPMed gnomAD
rs756308589	207	V>I		No	Ensembl
rs181872194	208	H>P		No	1000Genomes ExAC gnomAD
rs763896170	209	A>E		No	ExAC gnomAD
rs1346548392	209	A>T		No	TOPMed gnomAD
rs1027870985	210	A>P		No	TOPMed gnomAD
rs1027870985	210	A>S		No	TOPMed gnomAD
rs765178651	211	V>I		No	gnomAD
rs765178651	211	V>L		No	gnomAD
rs1676244901	212	L>V		No	TOPMed
rs1557945081	213	A>S		No	Ensembl
TCGA novel	214	I>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs760738647	214	I>T		No	ExAC TOPMed gnomAD
rs1157365634	214	I>V		No	TOPMed gnomAD
rs139718277	215	N>S		No	1000Genomes ExAC TOPMed gnomAD
rs1181577614	216	E>K		No	TOPMed gnomAD
rs1482500897	217	A>T		No	gnomAD
rs1474675416	219	E>D		No	TOPMed gnomAD
rs1370862158	219	E>Q		No	TOPMed
rs143587777	220	R>*		No	ESP ExAC gnomAD
rs745370527	220	R>Q		No	ExAC gnomAD
rs1461232002	221	G>E		No	TOPMed gnomAD
rs1676243112	221	G>R		No	Ensembl
rs1316402914	222	V>M		No	gnomAD
rs866553338	223	V>L		No	Ensembl
rs773846786	224	E>A		No	ExAC gnomAD
rs940558172	225	D>Y		No	Ensembl
rs1676242140	226	T>N		No	TOPMed
rs770505092	226	T>P		No	1000Genomes ExAC TOPMed gnomAD
rs770505092	226	T>S		No	1000Genomes ExAC TOPMed gnomAD
rs748922349	227	L>V		No	ExAC gnomAD
rs1314320250	233	P>L		No	gnomAD
rs756439875	234	S>I		No	ExAC TOPMed gnomAD
rs756439875	234	S>T		No	ExAC TOPMed gnomAD
rs748702061	236	L>F		No	ExAC gnomAD
rs1294862798	237	L>P		No	TOPMed
rs1289063355	239	N>D		No	TOPMed gnomAD
rs781654325	239	N>K		No	ExAC gnomAD
rs1229772507	239	N>S		No	TOPMed gnomAD
rs1358066620	240	L>I		No	TOPMed gnomAD
rs755115439	241	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs759477135	241	R>Q		No	ExAC TOPMed gnomAD
rs758569136	243	P>A		No	ExAC TOPMed gnomAD
rs758569136	243	P>S		No	ExAC TOPMed gnomAD
rs750615377	245	A>S		No	ExAC gnomAD
rs750615377	245	A>T		No	ExAC gnomAD
COSM676429	246	A>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1676238512	247	V>A		No	TOPMed
COSM1498882 rs375168150	247	V>I	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1676238391	248	Y>C		No	TOPMed
rs1187327390	249	Q>*		No	TOPMed gnomAD
rs1171547	249	Q>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2102437760	253	A>P		No	Ensembl
rs1264760803	255	A>S		No	TOPMed gnomAD
rs1264760803	255	A>T		No	TOPMed gnomAD
rs1420479300	256	K>R		No	Ensembl
rs1458796743	257	M>K		No	TOPMed gnomAD
rs1288492557	259	K>T		No	TOPMed gnomAD
rs190122865	260	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1419129478	260	A>V		No	gnomAD
rs1296106023	261	A>T		No	TOPMed gnomAD
rs1676235576 COSM1334867	261	A>V	large_intestine [Cosmic]	No	cosmic curated gnomAD
rs762553585	262	N>S		No	ExAC TOPMed gnomAD
rs1676235006	263	A>G		No	Ensembl
rs139066776	263	A>T		No	ESP ExAC gnomAD
TCGA novel	264	R>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1364466979	265	N>K		No	TOPMed gnomAD
rs748505883	265	N>S		No	ExAC gnomAD
rs1293448615	266	H>L		No	gnomAD
COSM1334866 rs1293448615	266	H>R	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1456269987	267	D>A		No	TOPMed gnomAD
rs1456269987	267	D>G		No	TOPMed gnomAD
rs777000341	271	S>G		No	ExAC TOPMed gnomAD
rs529558769	271	S>I		No	1000Genomes ExAC TOPMed gnomAD
rs529558769	271	S>N		No	1000Genomes ExAC TOPMed gnomAD
COSM1472758	272	Q>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM6058652	273	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs185598690	274	I>V		No	1000Genomes ExAC TOPMed gnomAD
rs1557944503	275	Y>*		No	Ensembl
rs1557944509	275	Y>H		No	Ensembl
rs1240518781	276	D>E		No	gnomAD
rs1676212583	277	H>L		No	Ensembl
rs772113905	278	Y>C		No	ExAC gnomAD
rs745968098	281	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
COSM676430 rs745968098	281	Q>K	lung [Cosmic]	No	cosmic curated ExAC gnomAD
rs757578340	284	I>V		No	ExAC TOPMed gnomAD
rs1294035839	285	Q>R		No	TOPMed
rs1339026189	286	G>D		No	gnomAD
rs2102436635	290	H>Y		No	Ensembl
rs143251488 COSM1639538	292	N>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs143251488	292	N>K		No	ESP ExAC TOPMed gnomAD
COSM424129	293	V>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	293	V>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1366559617	293	V>G		No	TOPMed gnomAD
COSM4023315 rs751509407	293	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1194872437	294	H>D		No	gnomAD
rs1676176173	294	H>R		No	Ensembl
rs1676176045	295	G>W		No	gnomAD
rs1395655609	296	A>G		No	TOPMed gnomAD
rs778126921	296	A>S		No	ExAC gnomAD
rs1557944023	297	L>P		No	gnomAD
rs746822951	299	V>F		No	ExAC TOPMed gnomAD
rs746822951	299	V>L		No	ExAC TOPMed gnomAD
rs1676175059	300	V>A		No	Ensembl
rs1294546084	301	D>E		No	gnomAD
TCGA novel	301	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs779654352	303	A>D		No	ExAC TOPMed gnomAD
TCGA novel	303	A>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1356089876	303	A>S		No	TOPMed gnomAD
rs1230094125	306	R>G		No	gnomAD
rs1163040707	308	S>G		No	TOPMed gnomAD
rs1676173777	308	S>N		No	Ensembl
rs1163040707	308	S>R		No	TOPMed gnomAD
rs571863226	309	P>R		No	ExAC TOPMed gnomAD
rs764762345	309	P>S		No	ExAC TOPMed gnomAD
rs753558277	311	A>D		No	ExAC gnomAD
TCGA novel	311	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1676172191	314	K>N		No	gnomAD
rs760189431	314	K>R		No	ExAC gnomAD
rs775948470	315	A>D		No	ExAC TOPMed gnomAD
rs775948470	315	A>G		No	ExAC TOPMed gnomAD
rs1557943947	315	A>T		No	Ensembl
rs267598075	317	Q>*		No	gnomAD
rs372380116	318	D>N		No	ESP ExAC TOPMed gnomAD
rs774977793	319	P>L		No	ExAC gnomAD
rs774977793	319	P>R		No	ExAC gnomAD
rs545801796	319	P>S		No	1000Genomes
TCGA novel	319	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1050065735	322	A>D		No	TOPMed gnomAD
rs1050065735	322	A>V		No	TOPMed gnomAD
rs370129300	324	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs370129300	324	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs188149873	324	R>P		No	1000Genomes ExAC TOPMed gnomAD
COSM3475309 rs188149873	324	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1231281600	325	G>E		No	TOPMed
rs770066385	325	G>R		No	ExAC gnomAD
rs779927496	326	V>A		No	ExAC gnomAD
rs779927496	326	V>G		No	ExAC gnomAD
rs1266814405	326	V>L		No	TOPMed
rs770174252	327	R>K		No	TOPMed gnomAD
rs147279530	327	R>W		No	ESP TOPMed gnomAD
rs1259077072	329	D>E		No	TOPMed
COSM897255	329	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1676165521	329	D>Y		No	gnomAD
rs1676165284	330	F>L		No	TOPMed gnomAD
rs1676165167	331	A>S		No	TOPMed
rs1450795243	331	A>V		No	TOPMed gnomAD
rs183822124	332	D>H		No	1000Genomes ExAC gnomAD
rs2102434899	332	D>V		No	Ensembl
rs1435865380	333	W>R		No	gnomAD
rs1676164749	334	Y>*		No	gnomAD
COSM294467	337	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1392790865	338	L>R		No	gnomAD
rs1330845762	340	S>T		No	gnomAD
rs1676164017	343	E>D		No	TOPMed
rs1399332324	344	Q>R		No	TOPMed gnomAD
rs373379201	350	G>D		No	ESP ExAC TOPMed gnomAD
rs752453089	352	V>L		No	ExAC gnomAD
COSM424128	352	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1676124889	353	E>D		No	TOPMed gnomAD
rs1247860002	354	L>F		No	gnomAD
rs780704842	354	L>R		No	ExAC gnomAD
rs1676124500	355	L>P		No	TOPMed gnomAD
rs754610532	356	E>K		No	ExAC TOPMed gnomAD
rs1676123959	357	K>N		No	TOPMed gnomAD
rs1676124070	357	K>R		No	Ensembl
rs1676123817	358	E>K		No	TOPMed
rs751986027	359	E>K		No	ExAC TOPMed gnomAD
rs1445448557	361	Q>*		No	gnomAD
rs1034622506	361	Q>L		No	Ensembl
rs1676123145	362	A>T		No	Ensembl
rs766798980	363	G>D		No	ExAC TOPMed gnomAD
rs766798980	363	G>V		No	ExAC TOPMed gnomAD
rs750860986	366	A>V		No	ExAC gnomAD
rs765404611	367	A>S		No	ExAC gnomAD
rs138122569	367	A>V		No	ESP ExAC gnomAD
rs776709461	369	T>I		No	ExAC TOPMed gnomAD
rs776709461	369	T>K		No	ExAC TOPMed gnomAD
rs1571357830	370	K>R		No	Ensembl
rs774165615	371	G>R		No	ExAC TOPMed gnomAD
rs770682706	371	G>V		No	ExAC gnomAD
rs777558552	372	D>N		No	ExAC
TCGA novel	372	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs769413359	373	Q>K		No	ExAC
rs747615165	373	Q>R		No	ExAC gnomAD
rs780695105	374	E>*		No	ExAC TOPMed gnomAD
rs1676120119	374	E>A		No	TOPMed gnomAD
rs780695105	374	E>K		No	ExAC TOPMed gnomAD
rs75963885	375	Q>*		No	ExAC TOPMed gnomAD
rs75963885	375	Q>K		No	ExAC TOPMed gnomAD
rs1676119203	376	A>G		No	Ensembl
rs1557943003	376	A>T		No	TOPMed
rs1676119203	376	A>V		No	Ensembl
rs746235312	377	M>R		No	ExAC gnomAD
rs779290415	378	L>H		No	ExAC gnomAD
rs1675837191	379	H>R		No	TOPMed
rs1675836944	380	A>T		No	TOPMed gnomAD
rs1052018307	381	V>A		No	Ensembl
rs764208719	382	Q>E		No	ExAC gnomAD
rs145312899	383	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs145312899	383	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM5843971 rs556661252	383	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs759744682	384	I>F		No	ExAC gnomAD
rs76418204	385	N>S		No	Ensembl
rs1675835745	386	K>E		No	TOPMed
rs570977840	387	A>T		No	1000Genomes ExAC gnomAD
rs1001270814	389	R>Q		No	TOPMed gnomAD
rs145437783	389	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs942070828	390	R>G		No	Ensembl
rs761695232	390	R>K		No	ExAC TOPMed gnomAD
rs2488269	391	R>*		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2488269 VAR_055278	391	R>G		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1287984907	391	R>I		No	TOPMed gnomAD
rs1571349630	393	A>P		No	Ensembl
rs202099740 COSM240244	393	A>V	prostate [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs2102420937	394	A>G		No	Ensembl
rs1571349598	394	A>P		No	Ensembl
rs35160849	395	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1675833250	396	T>A		No	Ensembl
rs779189332	398	K>E		No	ExAC gnomAD
rs368519310	399	E>D		No	ESP TOPMed
rs969872033	399	E>K		No	Ensembl
rs1571349554	399	E>V		No	TOPMed
rs1675832268	400	L>M		No	TOPMed
rs1675832127	402	C>G		No	TOPMed gnomAD
COSM3475308	402	C>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs369008452	403	P>S		No	Ensembl
rs771308861	404	E>G		No	ExAC gnomAD
rs749818611	405	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1380855249	407	L>P		No	gnomAD
rs1675831297	409	P>A		No	gnomAD
rs1675830392	410	V>A		No	Ensembl
RCV001541400 rs11264498 VAR_055279	410	V>L		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1456308187	411	Y>N		No	gnomAD
rs1257810112	411	Y>S		No	gnomAD
TCGA novel	412	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1354148680	412	P>S		No	TOPMed gnomAD
rs1354148680	412	P>T		No	TOPMed gnomAD
rs1311692332	414	A>G		No	TOPMed gnomAD
rs1482643470	415	S>L		No	gnomAD
rs974744456	416	S>F		No	TOPMed gnomAD
rs2102420702	416	S>T		No	Ensembl
rs371999661	417	M>L		No	1000Genomes ExAC TOPMed gnomAD
rs371999661	417	M>V		No	1000Genomes ExAC TOPMed gnomAD
rs764989116	420	L>P		No	ExAC gnomAD
rs751774829	420	L>V		No	ExAC TOPMed gnomAD
rs1239833555	423	A>T		No	TOPMed gnomAD
rs764129491	427	Q>*		No	ExAC TOPMed gnomAD
rs760628310	428	Q>P		No	ExAC TOPMed gnomAD
rs549517488	430	G>E		No	1000Genomes ExAC TOPMed gnomAD
rs146377246	430	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs146377246	430	G>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1261918181	432	L>F		No	gnomAD
COSM1334865	433	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs930370415	437	L>V		No	TOPMed gnomAD
rs773597658	438	F>I		No	ExAC gnomAD
rs748702160	439	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1210779054	440	A>T		No	gnomAD
rs777181895	441	V>A		No	ExAC TOPMed gnomAD
rs777181895	441	V>G		No	ExAC TOPMed gnomAD
rs200396860	442	E>G		No	gnomAD
rs747111927	444	L>P		No	ExAC TOPMed gnomAD
rs1675719993	445	S>P		No	Ensembl
rs72996647	446	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1324167396	447	V>L		No	gnomAD
rs1324167396	447	V>M		No	gnomAD
rs1172365473	451	N>K		No	gnomAD
rs1392089894	451	N>S		No	TOPMed gnomAD
rs1392089894	451	N>T		No	TOPMed gnomAD
rs768039917	452	R>P		No	TOPMed gnomAD
rs768039917	452	R>Q		No	TOPMed gnomAD
rs143017370	452	R>W		No	ESP TOPMed gnomAD
rs1474710245	453	A>D		No	TOPMed gnomAD
rs1474710245	453	A>V		No	TOPMed gnomAD
rs1571346312	454	L>R		No	Ensembl
rs1185155310	455	E>G		No	TOPMed
rs1185155310	455	E>V		No	TOPMed
TCGA novel	456	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs752644738	456	A>T		No	ExAC gnomAD
rs767495280	457	R>G		No	ExAC TOPMed gnomAD
TCGA novel	457	R>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs375628623	457	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs767495280	457	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs144890226	460	S>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1571346229	463	W>G		No	Ensembl
rs762631833	463	W>L		No	ExAC
rs772827998	464	S>G		No	ExAC
rs765647186	465	S>C		No	ExAC
rs747422782	467	V>A		No	ExAC TOPMed gnomAD
rs747422782	467	V>E		No	ExAC TOPMed gnomAD
rs747422782	467	V>G		No	ExAC TOPMed gnomAD
rs762156739	467	V>L		No	ExAC TOPMed gnomAD
rs762156739	467	V>M		No	ExAC TOPMed gnomAD
rs775682638	468	N>D		No	ExAC gnomAD
rs1347276048	468	N>T		No	gnomAD
rs572375123	469	P>A		No	1000Genomes ExAC TOPMed gnomAD
rs572375123	469	P>T		No	1000Genomes ExAC TOPMed gnomAD
rs375593841	470	A>S		No	ESP ExAC TOPMed gnomAD
rs1357467461	471	T>A		No	TOPMed
COSM269383	472	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs553744571	475	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs1571346120	476	V>G		No	Ensembl
rs1675711052	476	V>M		No	Ensembl
rs1675710358	477	E>D		No	Ensembl
rs370997048	477	E>K		No	ESP ExAC gnomAD
rs140686020	479	E>D		No	1000Genomes ExAC TOPMed gnomAD
rs765921551	479	E>G		No	ExAC gnomAD
rs1348211122	480	N>K		No	TOPMed
rs373751756	481	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs150940793	483	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs764870731	483	R>H		No	ExAC TOPMed gnomAD
rs747025621	484	Y>C		No	ExAC TOPMed gnomAD
TCGA novel	486	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs749946501	486	D>N		No	ExAC TOPMed gnomAD
rs761589936	487	A>T		No	Ensembl
rs1229847686	487	A>V		No	gnomAD
rs778342130	492	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs778342130	492	R>G		No	ExAC TOPMed gnomAD
rs200833451	492	R>L		No	ExAC TOPMed gnomAD
rs200833451	492	R>Q		No	ExAC TOPMed gnomAD
rs141030517	495	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs760946655	495	R>H		No	ExAC gnomAD
rs1480700441	497	M>I		No	TOPMed gnomAD
rs753048833	500	D>E		No	ExAC TOPMed gnomAD
rs768151654	502	L>M		No	ExAC gnomAD
rs1421135977	503	S>N		No	TOPMed gnomAD
rs1463322943	504	W>*		No	TOPMed
rs760072174	505	N>K		No	ExAC gnomAD
rs774605927	506	D>E		No	ExAC TOPMed gnomAD
rs1675576725	508	Q>P		No	Ensembl
rs1194497464	510	T>A		No	TOPMed gnomAD
rs1675576134	510	T>I		No	gnomAD
rs1194497464	510	T>P		No	TOPMed gnomAD
rs1194497464	510	T>S		No	TOPMed gnomAD
rs373682054	511	V>M		No	ESP ExAC TOPMed gnomAD
rs1223460402	513	Q>*		No	gnomAD
rs763282771	513	Q>L		No	ExAC TOPMed gnomAD
rs763282771	513	Q>R		No	ExAC TOPMed gnomAD
rs980218522	517	Q>K		No	TOPMed gnomAD
rs1406024745	521	E>K		No	TOPMed gnomAD
rs1278209402	522	T>A		No	gnomAD
rs779762890	524	R>G		No	ExAC TOPMed gnomAD
rs779762890	524	R>W		No	ExAC TOPMed gnomAD
rs1461537375	525	V>F		No	gnomAD
rs1340255776	526	L>F		No	TOPMed gnomAD
rs1242811390	527	A>T		No	TOPMed gnomAD
rs912266246	529	S>I		No	TOPMed gnomAD
rs1675566058	529	S>R		No	Ensembl
rs1360526455	530	L>F		No	Ensembl
rs771820967	532	N>S		No	ExAC TOPMed gnomAD
rs1215952373	532	N>Y		No	TOPMed gnomAD
rs1394424706	534	A>T		No	gnomAD
COSM1491767	535	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1486782087	535	L>V		No	TOPMed gnomAD
rs1441354827	536	D>E		No	gnomAD
rs745865506	536	D>N		No	ExAC gnomAD
rs748510745	536	D>V		No	TOPMed
rs1675561503	539	S>I		No	Ensembl
rs1238383033	540	P>L		No	gnomAD
rs1479369130	543	T>S		No	TOPMed gnomAD
rs762469250	544	L>V		No	ExAC TOPMed gnomAD
rs748765771	545	S>F		No	ExAC TOPMed gnomAD
rs748765771	545	S>Y		No	ExAC TOPMed gnomAD
rs1185262639	546	A>S		No	TOPMed
rs777288475	546	A>V		No	ExAC TOPMed gnomAD
rs755753898	548	L>V		No	ExAC
rs1438748327	549	L>P		No	TOPMed
rs1232525149	550	P>S		No	TOPMed gnomAD
rs747772608	551	A>G		No	ExAC TOPMed gnomAD
TCGA novel	551	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3802212	555	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1322146684	556	D>V		No	gnomAD
rs200280442	556	D>Y		No	ExAC TOPMed gnomAD
rs371790500	560	P>L		No	TOPMed
COSM3788828	560	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs752178143	560	P>T		No	ExAC gnomAD
rs1289983520	561	V>F		No	TOPMed gnomAD
rs112144116 RCV000958492	562	A>T		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1171738444	564	R>Q		No	TOPMed gnomAD
rs376718235	564	R>W		No	ESP ExAC TOPMed gnomAD
rs2102409819	565	Y>F		No	Ensembl
rs765316652	566	H>R		No	ExAC TOPMed
rs372045854	568	L>V		No	ESP ExAC TOPMed gnomAD
rs1675556114	569	L>P		No	Ensembl
rs1646862178	570	V>M		No	TOPMed
rs776809867	571	A>S		No	ExAC TOPMed gnomAD
rs776809867	571	A>T		No	ExAC TOPMed gnomAD
rs1181905797	573	K>E		No	gnomAD
rs1675555018	574	R>G		No	gnomAD
rs368294872	574	R>S		No	ESP ExAC TOPMed gnomAD
rs1417323038	576	K>E		No	gnomAD
rs759333521	576	K>N		No	ExAC TOPMed gnomAD
rs774142010	577	A>G		No	ExAC TOPMed gnomAD
COSM676434	577	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1166171558	577	A>T		No	gnomAD
rs774142010	577	A>V		No	ExAC TOPMed gnomAD
rs1675489824	579	V>L		No	Ensembl
rs146063526	581	G>R		No	ESP ExAC TOPMed gnomAD
rs1271524488	582	D>E		No	TOPMed gnomAD
rs200358652	584	G>A		No	ESP ExAC TOPMed gnomAD
rs200358652	584	G>E		No	ESP ExAC TOPMed gnomAD
rs1675488405	586	V>A		No	TOPMed
rs762849729	590	E>*		No	ExAC gnomAD
rs146241187	590	E>A		No	ExAC TOPMed gnomAD
rs146241187	590	E>G		No	ExAC TOPMed gnomAD
rs146241187	590	E>V		No	ExAC TOPMed gnomAD
rs1571340322	591	E>G		No	Ensembl
rs761409905	591	E>K		No	ExAC TOPMed gnomAD
rs1415237505	592	I>V		No	TOPMed gnomAD
rs202212124	593	R>C		No	ExAC TOPMed gnomAD
rs59573847	593	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs59573847 RCV000955250	593	R>L		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs202212124	593	R>S		No	ExAC TOPMed gnomAD
rs1297232629	594	Q>E		No	TOPMed
rs972615940	595	G>A		No	gnomAD
rs972615940	595	G>V		No	gnomAD
rs1571340231	596	V>G		No	Ensembl
rs137863711	597	V>F		No	ESP ExAC TOPMed gnomAD
rs1269831015	597	V>G		No	gnomAD
rs137863711	597	V>I		No	ESP ExAC TOPMed gnomAD
rs1675485312	598	R>G		No	Ensembl
rs374166935	600	N>K		No	ESP ExAC TOPMed gnomAD
rs961353816	602	D>A		No	TOPMed gnomAD
COSM897251 rs961353816	602	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs746417417	602	D>N		No	ExAC gnomAD
TCGA novel rs1675484331	605	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1271551695	605	T>I		No	gnomAD
rs1271551695	605	T>R		No	gnomAD
rs1675483853	606	A>D		No	gnomAD
rs1299231398	606	A>T		No	gnomAD
rs1675483707	607	Q>R		No	TOPMed gnomAD
COSM1983719	608	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs757704735	608	R>K		No	ExAC gnomAD
rs952150571	610	A>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1179337068	611	L>F		No	TOPMed gnomAD
rs1179337068	611	L>I		No	TOPMed gnomAD
rs771459409	612	G>A		No	ExAC gnomAD
rs1571338037	613	V>G		No	Ensembl
rs1015302750	613	V>L		No	TOPMed gnomAD
rs1015302750	613	V>M		No	TOPMed gnomAD
rs1571338033	614	A>P		No	Ensembl
rs749769151	614	A>V		No	ExAC gnomAD
rs777883245	615	A>G		No	ExAC gnomAD
rs1444244340	615	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1557933420	616	I>N		No	Ensembl
rs756176242	617	N>S		No	ExAC TOPMed gnomAD
rs1210157480	619	A>V		No	TOPMed gnomAD
rs1345644604	621	K>N		No	gnomAD
rs1675398080	621	K>R		No	Ensembl
rs752931109	623	G>A		No	ExAC TOPMed gnomAD
rs752931109	623	G>D		No	ExAC TOPMed gnomAD
rs1224151483	625	A>T		No	TOPMed gnomAD
rs1675397323	625	A>V		No	TOPMed gnomAD
rs1372120389	628	T>S		No	gnomAD
rs1449567979	629	E>*		No	gnomAD
rs1449567979	629	E>K		No	gnomAD
rs370974075	630	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs147754283	630	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs760226785	631	V>G		No	ExAC TOPMed gnomAD
rs763753045	631	V>L		No	ExAC TOPMed gnomAD
rs758232065	634	N>K		No	ExAC TOPMed gnomAD
rs1571337883	634	N>T		No	Ensembl
rs771267264	636	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs749855215	637	V>A		No	ExAC TOPMed gnomAD
rs200872033	638	A>G		No	1000Genomes ExAC TOPMed gnomAD
rs200872033	638	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs1675393794	639	L>F		No	gnomAD
rs748270129	640	R>*		No	ExAC gnomAD
rs1316181406	640	R>Q		No	TOPMed gnomAD
rs1450820255	641	G>E		No	Ensembl
rs1229608454	642	V>I		No	gnomAD
rs755255881	643	V>A		No	ExAC TOPMed gnomAD
rs747202672 COSM3475304	644	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1345040619	645	D>G		No	gnomAD
VAR_055280 rs11264496	645	D>N		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs11264496	645	D>Y		No	1000Genomes ESP ExAC TOPMed gnomAD
rs753891939	647	A>G		No	ExAC TOPMed gnomAD
rs1316689486	647	A>T		No	gnomAD
rs753891939	647	A>V		No	ExAC TOPMed gnomAD
rs755956829	648	N>S		No	ExAC TOPMed gnomAD
rs1187103159	649	G>D		No	gnomAD
rs77834544	649	G>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs759287037	650	Y>*		No	ExAC gnomAD
rs1675389851	651	Q>P		No	Ensembl
rs145193228	652	R>*		No	1000Genomes ExAC TOPMed gnomAD
rs763314143	652	R>Q		No	ExAC TOPMed gnomAD
rs369748008	653	A>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs369748008	653	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs748559498	657	A>T		No	ExAC TOPMed gnomAD
rs1361888173	658	M>I		No	gnomAD
rs776809237	658	M>L		No	ExAC gnomAD
rs776809237	658	M>V		No	ExAC gnomAD
rs1268738928	659	A>G		No	gnomAD
rs1188171516	660	K>E		No	Ensembl
rs768596195	660	K>N		No	ExAC TOPMed gnomAD
rs1675387274	662	Q>*		No	Ensembl
rs1557933085	662	Q>R		No	Ensembl
rs744224 VAR_055281	663	R>C		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM302428 rs780418135	663	R>H	central_nervous_system [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1461577318	666	D>V		No	TOPMed gnomAD
rs760838923	667	T>I		No	ExAC TOPMed gnomAD
rs760838923	667	T>R		No	ExAC TOPMed gnomAD
rs1254607956	668	A>D		No	gnomAD
rs1435104158	670	W>*		No	gnomAD
TCGA novel	670	W>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs775665101	671	V>I		No	ExAC gnomAD
rs772455391	673	H>D		No	ExAC TOPMed gnomAD
rs746057135	675	M>T		No	ExAC TOPMed gnomAD
rs777673429	677	D>V		No	ExAC TOPMed gnomAD
rs952064515	678	G>D		No	TOPMed gnomAD
rs1675377105	680	A>V		No	gnomAD
rs1207949718	683	F>L		No	TOPMed
rs748186513	683	F>L		No	ExAC TOPMed gnomAD
rs780999089	684	H>Q		No	ExAC gnomAD
rs1557932848	685	L>P		No	Ensembl
rs916662894	686	Q>H		No	gnomAD
rs751089181	689	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1675375018	689	Q>P		No	TOPMed
TCGA novel	690	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs750018606	691	I>V		No	ExAC gnomAD
rs149471425	692	W>*		No	ESP gnomAD
rs544206421	693	E>K		No	TOPMed gnomAD
rs1675372944	696	P>L		No	Ensembl
rs1171480967	697	G>D		No	gnomAD
rs1675372087	698	C>G		No	Ensembl
rs1254902286	698	C>Y		No	TOPMed gnomAD
rs1035453338	699	P>L		No	TOPMed gnomAD
rs764520924	701	N>S		No	ExAC gnomAD
rs1370772416	702	T>I		No	TOPMed
rs761225439	704	H>Q		No	ExAC gnomAD
rs1475734371	704	H>Y		No	TOPMed gnomAD
rs775753469	705	L>P		No	ExAC gnomAD
rs1257476693	706	T>N		No	gnomAD
rs372828046	707	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs372828046	707	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs146928547	707	R>W		No	ESP ExAC TOPMed gnomAD
rs1675368834	708	E>*		No	Ensembl
rs1675368479	711	Q>E		No	Ensembl
rs1675363632	712	S>L		No	Ensembl
rs1334338215	714	V>I		No	gnomAD
rs1675363132	715	T>S		No	TOPMed
rs774433919	716	K>N		No	ExAC TOPMed gnomAD
rs766536111	717	V>A		No	ExAC TOPMed gnomAD
rs766536111	717	V>G		No	ExAC TOPMed gnomAD
rs763192283	718	T>A		No	ExAC gnomAD
rs1675362418	718	T>S		No	Ensembl
rs1377350205	719	A>V		No	TOPMed
rs201085704	721	Y>C		No	ExAC TOPMed gnomAD
rs972036158	722	D>E		No	TOPMed gnomAD
rs528981386	723	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs200847918	723	R>H		No	ExAC TOPMed gnomAD
rs775400326	724	Q>*		No	ExAC TOPMed gnomAD
rs775400326	724	Q>E		No	ExAC TOPMed gnomAD
rs1352064458	725	Q>R		No	TOPMed gnomAD
rs771929503	726	L>F		No	ExAC TOPMed gnomAD
rs1169161150	729	A>V		No	gnomAD
rs745381736	730	N>S		No	ExAC TOPMed gnomAD
rs745381736	730	N>T		No	ExAC TOPMed gnomAD
rs1192884404	731	V>I		No	TOPMed gnomAD
rs1675359029	732	G>D		No	TOPMed
rs879547624	732	G>S		No	TOPMed gnomAD
rs1194575547	734	V>A		No	TOPMed gnomAD
rs1287755832	735	I>T		No	gnomAD
rs374060518	736	Q>E		No	ESP ExAC TOPMed gnomAD
rs1339957134	737	L>F		No	TOPMed gnomAD
rs1484236293	737	L>H		No	TOPMed gnomAD
rs778339580	738	Q>*		No	ExAC gnomAD
rs1675356678	738	Q>R		No	TOPMed
rs1178195698	739	A>D		No	TOPMed
rs543532316	740	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs753047201	740	R>H		No	ExAC TOPMed gnomAD
rs753047201	740	R>L		No	ExAC TOPMed gnomAD
rs1675355752	741	L>F		No	TOPMed
rs768155797	742	R>C		No	ExAC TOPMed gnomAD
COSM206869 rs371514554	742	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs371514554	742	R>L		No	ESP ExAC TOPMed gnomAD
rs1330269075	746	V>A		No	gnomAD
rs201228644 COSM897247	747	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1410083949	747	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs146588513	748	Q>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1675353574	748	Q>R		No	TOPMed
rs1675353118	750	F>I		No	gnomAD
rs1675352992	750	F>L		No	TOPMed
TCGA novel	751	A>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs760467624	752	E>K		No	ExAC TOPMed gnomAD
rs775205536	753	H>Y		No	ExAC TOPMed gnomAD
rs1675352568	754	S>P		No	Ensembl
rs772017439	754	S>Y		No	ExAC TOPMed gnomAD
rs550116730	755	H>R		No	ExAC gnomAD
rs1202849828	757	L>P		No	TOPMed gnomAD
rs1202849828	757	L>R		No	TOPMed gnomAD
rs373591203	758	R>K		No	ESP ExAC TOPMed gnomAD
rs1675351039	759	T>A		No	TOPMed
rs1675350570	760	W>C		No	TOPMed
rs1233335276	761	L>F		No	TOPMed gnomAD
rs1233335276	761	L>I		No	TOPMed gnomAD
rs1280980745	762	P>S		No	gnomAD
rs1334728543	763	A>P		No	gnomAD
rs1305646391	763	A>V		No	TOPMed gnomAD
rs1571336419	765	I>T		No	Ensembl
rs1408486160	765	I>V		No	TOPMed gnomAD
rs1675348893	766	K>R		No	Ensembl
rs777575989	768	Q>R		No	ExAC gnomAD
rs1440968309	769	A>T		No	gnomAD
rs1426225708	769	A>V		No	TOPMed gnomAD
rs1078890 VAR_055282	770	H>Y		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	772	R>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1675138256	772	R>Q		No	gnomAD
rs769049445	772	R>W		No	ExAC TOPMed gnomAD
rs747533140	773	G>V		No	ExAC
COSM676436	774	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs564840911	775	R>G		No	ExAC TOPMed gnomAD
rs1416349706	775	R>K		No	TOPMed gnomAD
rs750521331	776	Q>*		No	ExAC gnomAD
TCGA novel	777	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs369096813	777	R>Q		No	ESP ExAC TOPMed gnomAD
rs757525039	777	R>W		No	ExAC TOPMed gnomAD
rs1364708315	778	K>E		No	gnomAD
rs1318857962	778	K>T		No	gnomAD
rs2102392078	782	E>Q		No	Ensembl
rs767283203	784	L>F		No	ExAC TOPMed gnomAD
rs759381115	785	Q>R		No	ExAC TOPMed gnomAD
rs1675135507	787	F>C		No	TOPMed
rs766365083	788	K>I		No	ExAC gnomAD
rs375929689	789	A>V		No	ESP ExAC TOPMed gnomAD
rs769402212	790	N>S		No	ExAC gnomAD
rs769402212	790	N>T		No	ExAC gnomAD
rs772892262	790	N>Y		No	ExAC gnomAD
rs776340725	791	L>M		No	ExAC TOPMed gnomAD
rs1675133892	792	D>E		No	TOPMed
rs373827251	792	D>G		No	ESP TOPMed gnomAD
rs2102391931	792	D>Y		No	Ensembl
rs1320416155	793	A>G		No	gnomAD
rs768123930	793	A>T		No	ExAC TOPMed gnomAD
rs1215512918	794	I>V		No	gnomAD
rs1675133023	796	K>R		No	TOPMed
rs1375534781	799	A>T		No	gnomAD
rs1675125258	800	W>C		No	Ensembl
rs774845693	800	W>G		No	ExAC TOPMed gnomAD
rs774845693	800	W>R		No	ExAC TOPMed gnomAD
rs771371414	802	R>G		No	ExAC TOPMed gnomAD
rs560536788	802	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs560536788	802	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs560536788 COSM1334863	802	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM4023308 rs771371414	802	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs777677258	803	M>I		No	ExAC gnomAD
rs2102391421	803	M>T		No	Ensembl
COSM676437	804	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs141755583	806	A>V		No	ESP ExAC gnomAD
rs147371313	807	R>Q		No	ESP ExAC TOPMed gnomAD
rs748299865	807	R>W		No	ExAC gnomAD
TCGA novel	809	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1408003549	810	Y>H		No	gnomAD
rs765276279	813	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs542327665	813	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1255774599	814	L>P		No	gnomAD
rs2102391290	814	L>V		No	Ensembl
rs763480557	815	H>R		No	ExAC TOPMed gnomAD
rs201097448	815	H>Y		No	1000Genomes ExAC TOPMed gnomAD
rs752288978	820	N>K		No	ExAC TOPMed gnomAD
rs201347788	821	V>G		No	ExAC gnomAD
rs868057365	821	V>I		No	gnomAD
rs766711624	822	N>D		No	ExAC gnomAD
rs773584434	822	N>K		No	ExAC gnomAD
rs766711624	822	N>Y		No	ExAC gnomAD
rs770264698	823	S>T		No	ExAC
rs761809603	824	I>L		No	ExAC gnomAD
rs769029892	824	I>N		No	ExAC TOPMed gnomAD
rs769029892	824	I>T		No	ExAC TOPMed gnomAD
rs778901279	825	V>L		No	ExAC TOPMed gnomAD
rs778901279	825	V>M		No	ExAC TOPMed gnomAD
rs749046739	826	K>*		No	ExAC
rs777585257	827	I>N		No	ExAC
rs200154189	832	R>*		No	1000Genomes ESP ExAC TOPMed gnomAD
rs200154189	832	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	832	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs780652716	832	R>Q		No	ExAC TOPMed gnomAD
rs754677045	833	A>T		No	ExAC gnomAD
rs1461874242	834	R>S		No	TOPMed
rs1210544430	834	R>W		No	gnomAD
COSM1334862	836	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs751203907	837	Q>*		No	ExAC gnomAD
rs766799614	838	D>H		No	ExAC gnomAD
rs1675108382	839	D>G		No	Ensembl
COSM897246	841	R>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs758690948	842	I>L		No	ExAC gnomAD
rs1675107635	842	I>M		No	TOPMed
rs758690948	842	I>V		No	ExAC gnomAD
COSM4023307	843	L>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs749061977	844	V>A		No	ExAC gnomAD
rs1675107470	844	V>M		No	TOPMed
rs1674947810	845	H>R		No	TOPMed
rs1307776180	846	A>E		No	TOPMed gnomAD
rs1307776180	846	A>V		No	TOPMed gnomAD
rs1004859234	847	P>S		No	Ensembl
rs199906363	848	H>L		No	Ensembl
rs199906363	848	H>P		No	Ensembl
rs1428277078	849	P>A		No	gnomAD
rs769661782	852	S>R		No	ExAC TOPMed gnomAD
rs1674946430	853	V>L		No	Ensembl
rs751001051 COSM1983690	855	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs751001051	855	R>G		No	ExAC TOPMed gnomAD
COSM897245 rs754484431	855	R>H	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1674945323	857	F>L		No	Ensembl
rs1198778761	858	A>S		No	Ensembl
rs1251048210	859	H>D		No	gnomAD
rs1202741406	859	H>L		No	TOPMed gnomAD
rs1202741406	859	H>R		No	TOPMed gnomAD
rs1280857701	860	L>H		No	TOPMed
rs1486569553	863	Q>E		No	gnomAD
rs779583951	864	S>N		No	ExAC gnomAD
rs1279077263	864	S>R		No	gnomAD
rs758016986	867	D>G		No	ExAC gnomAD
rs758016986	867	D>V		No	ExAC gnomAD
rs750781339	868	F>V		No	ExAC gnomAD
COSM3475302	870	A>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs928069531	871	E>D		No	TOPMed gnomAD
rs567498406	872	A>T		No	1000Genomes ExAC gnomAD
rs760850975	874	L>M		No	ExAC gnomAD
rs760850975	874	L>V		No	ExAC gnomAD
rs1203210134	875	L>P		No	TOPMed
rs2102383485	876	K>R		No	Ensembl
rs1674942287	878	Q>*		No	TOPMed
rs767665639	879	E>*		No	ExAC TOPMed gnomAD
rs767665639	879	E>K		No	ExAC TOPMed gnomAD
rs1571325792	881	V>G		No	Ensembl
rs759775200	881	V>I		No	ExAC TOPMed gnomAD
rs759775200	881	V>L		No	ExAC TOPMed gnomAD
rs1674940990	883	R>K		No	Ensembl
rs1411139400	883	R>S		No	gnomAD
rs372011656	885	I>T		No	ESP ExAC TOPMed gnomAD
COSM4023306 rs138977257	886	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs138977257	886	R>G		No	ESP ExAC TOPMed gnomAD
rs367772740	886	R>P		No	ESP ExAC TOPMed gnomAD
COSM206868 rs367772740	886	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs746541276	892	E>A		No	ExAC gnomAD
rs768517691	892	E>K		No	ExAC gnomAD
COSM676438 rs768517691	892	E>Q	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1447459365	895	L>R		No	TOPMed gnomAD
rs375740683	896	N>D		No	ESP ExAC TOPMed gnomAD
rs1332974384	898	M>I		No	gnomAD
rs1370753468	898	M>T		No	TOPMed gnomAD
rs1352995627	898	M>V		No	gnomAD
rs1299781524	899	D>N		No	TOPMed gnomAD
rs779201583	900	I>N		No	ExAC TOPMed gnomAD
rs779201583	900	I>T		No	ExAC TOPMed gnomAD
rs937137900	901	K>N		No	Ensembl
rs1557926578	901	K>R		No	Ensembl
rs1265709456	902	I>T		No	TOPMed gnomAD
rs928570891	903	G>A		No	TOPMed gnomAD
rs1382006294	906	V>E		No	gnomAD
rs1285117877	907	K>N		No	gnomAD
rs1674936995	908	N>K		No	TOPMed
rs754197779	909	R>Q		No	ExAC TOPMed gnomAD
rs368663938	909	R>W		No	ESP ExAC TOPMed gnomAD
rs1300330542	910	I>L		No	TOPMed gnomAD
rs1457972260	911	T>N		No	gnomAD
rs1571325571	911	T>P		No	Ensembl
rs1674935874	912	L>R		No	gnomAD
rs1343127945	913	Q>*		No	TOPMed gnomAD
rs756736777	915	V>L		No	ExAC gnomAD
rs756736777	915	V>M		No	ExAC gnomAD
rs753237862	917	S>C		No	ExAC gnomAD
rs753237862	917	S>F		No	ExAC gnomAD
rs781199766	919	C>*		No	ExAC TOPMed gnomAD
rs1045630160	919	C>Y		No	Ensembl
rs1391730449	920	K>R		No	gnomAD
rs1169018122	921	K>R		No	gnomAD
rs755094371	924	K>*		No	ExAC TOPMed gnomAD
rs755094371	924	K>E		No	ExAC TOPMed gnomAD
rs751540049	925	R>G		No	ExAC gnomAD
rs766607153	925	R>S		No	ExAC TOPMed gnomAD
rs1192416330	925	R>T		No	gnomAD
rs1245627979	926	N>K		No	gnomAD
rs778545923	927	K>N		No	ExAC gnomAD
rs753670009	930	L>Q		No	ExAC gnomAD
rs763852472	931	S>*		No	ExAC gnomAD
rs760585691	932	D>A		No	ExAC gnomAD
TCGA novel	933	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs945852958	933	M>V		No	gnomAD
rs1674894458	934	M>L		No	Ensembl
rs775492511	935	V>I		No	ExAC gnomAD
rs1398554180	936	L>P		No	Ensembl
TCGA novel	937	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1368314026	937	D>V		No	gnomAD
rs1674893832	939	Q>H		No	TOPMed gnomAD
rs771837814	941	G>C		No	ExAC TOPMed gnomAD
rs770749361	943	K>N		No	ExAC TOPMed gnomAD
rs748927978	944	S>*		No	ExAC TOPMed gnomAD
rs748927978	944	S>L		No	ExAC TOPMed gnomAD
rs1433423631	946	S>N		No	gnomAD
rs770281482	947	K>E		No	ExAC TOPMed gnomAD
rs770281482	947	K>Q		No	ExAC TOPMed gnomAD
rs1265566419	950	R>Q		No	TOPMed gnomAD
rs748398015	950	R>W		No	ExAC TOPMed gnomAD
rs1208657813	952	K>*		No	TOPMed
rs1208657813	952	K>E		No	TOPMed
rs755387590	953	L>P		No	ExAC gnomAD
rs755387590	953	L>Q		No	ExAC gnomAD
rs747140198	955	A>S		No	ExAC TOPMed gnomAD
rs747140198	955	A>T		No	ExAC TOPMed gnomAD
rs1464716211	956	Y>H		No	gnomAD
rs1249983295	957	Q>E		No	gnomAD
rs1674889795	957	Q>R		No	TOPMed gnomAD
rs780073876	958	H>L		No	ExAC gnomAD
COSM3475301	959	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1300637121	960	F>C		No	gnomAD
rs1221811202	961	Y>N		No	TOPMed gnomAD
rs1352240832	963	L>F		No	gnomAD
rs1352240832	963	L>I		No	gnomAD
rs750629224	964	Q>R		No	ExAC gnomAD
rs748572551	965	T>P		No	ExAC gnomAD
COSM3475300	967	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	968	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1674875991	970	L>V		No	Ensembl
TCGA novel rs920351806	977	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	TOPMed gnomAD NCI-TCGA
rs776816740	979	Q>*		No	ExAC gnomAD
rs769243391	980	N>D		No	ExAC TOPMed gnomAD
rs1333943050	982	T>A		No	TOPMed gnomAD
rs1333943050	982	T>P		No	TOPMed gnomAD
rs1396440403	983	T>S		No	gnomAD
rs780163254	985	F>S		No	ExAC gnomAD
rs758467431	986	M>L		No	ExAC TOPMed gnomAD
rs1674873823	986	M>T		No	TOPMed
rs758467431	986	M>V		No	ExAC TOPMed gnomAD
rs940518314	992	S>N		No	TOPMed gnomAD
rs1157804194	994	Y>C		No	gnomAD
rs745879821	995	N>S		No	ExAC gnomAD
rs1362614609	997	A>T		No	TOPMed gnomAD
rs74822598	998	S>P		No	Ensembl
rs2102380083	999	S>T		No	Ensembl
rs768310398	1000	R>C		No	ExAC TOPMed gnomAD
rs111494634	1000	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs111494634	1000	R>L		No	ESP ExAC TOPMed gnomAD
COSM1668055 rs35609151	1001	R>*	pancreas large_intestine [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs35609151	1001	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs751536368	1001	R>P		No	ExAC TOPMed gnomAD
rs751536368 COSM138239	1001	R>Q	skin [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1248682248	1002	E>G		No	gnomAD
rs1674870819	1002	E>Q		No	TOPMed
rs1674870521	1003	A>G		No	TOPMed
rs762562390	1006	L>M		No	ExAC gnomAD
rs1674869842	1007	L>F		No	Ensembl
rs772795962	1008	Q>H		No	ExAC gnomAD
rs1176581104	1008	Q>R		No	TOPMed
COSM676439	1010	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs900416393	1011	K>E		No	TOPMed gnomAD
rs900416393	1011	K>Q		No	TOPMed gnomAD
rs1320825899	1012	T>R		No	TOPMed gnomAD
rs1039144580	1013	A>P		No	Ensembl
rs761345354	1013	A>V		No	ExAC gnomAD
rs1436769524	1014	L>F		No	TOPMed gnomAD
rs757777531	1018	I>M		No	ExAC gnomAD
rs747583897	1019	K>R		No	ExAC gnomAD
rs1388315017	1021	K>N		No	TOPMed gnomAD
rs761042207	1022	V>L		No	ExAC gnomAD
rs761042207	1022	V>M		No	ExAC gnomAD
rs1432501335	1023	E>K		No	gnomAD
rs201478859	1025	P>A		No	ExAC TOPMed gnomAD
rs1327240047	1025	P>L		No	TOPMed
rs201478859	1025	P>T		No	ExAC TOPMed gnomAD
rs990720200	1026	Q>*		No	TOPMed gnomAD
rs1674850371	1027	D>A		No	gnomAD
rs770909857	1027	D>E		No	ExAC TOPMed gnomAD
rs375724691	1028	V>M		No	ExAC TOPMed gnomAD
rs200688990	1029	V>M		No	ExAC TOPMed gnomAD
rs142726013	1031	G>D		No	ESP TOPMed gnomAD
rs142726013	1031	G>V		No	ESP TOPMed gnomAD
rs746828350	1032	N>S		No	ExAC gnomAD
COSM1334861	1033	P>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs779968096	1033	P>S		No	ExAC gnomAD
rs1674847889	1034	T>A		No	TOPMed gnomAD
rs1674847410	1035	V>A		No	Ensembl
rs1328634081	1037	R>K		No	gnomAD
rs1441480806	1039	V>E		No	TOPMed gnomAD
rs1441480806	1039	V>G		No	TOPMed gnomAD
rs758462173	1039	V>L		No	ExAC gnomAD
rs758462173	1039	V>M		No	ExAC gnomAD
rs1571323152	1040	V>G		No	Ensembl
rs1173218391	1043	Y>C		No	TOPMed gnomAD
COSM1983677 rs369600648	1044	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs377284542	1044	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs369600648	1044	R>S		No	ESP ExAC TOPMed gnomAD
rs1674845526	1046	G>R		No	TOPMed
rs141646662	1047	R>Q		No	ESP ExAC TOPMed gnomAD
rs150506468	1047	R>W		No	ESP ExAC TOPMed gnomAD
rs1674844528	1048	G>R		No	Ensembl
rs1443768469	1050	S>R		No	gnomAD
rs1414066873	1051	A>V		No	TOPMed gnomAD
rs1674843438	1053	Q>K		No	gnomAD
rs1278967417	1053	Q>R		No	gnomAD
rs757801269	1055	I>F		No	Ensembl
rs1000024878	1055	I>T		No	Ensembl
rs1332462021	1056	L>P		No	TOPMed gnomAD
rs760101690	1057	G>D		No	ExAC TOPMed gnomAD
rs774723919	1058	K>E		No	ExAC TOPMed gnomAD
rs771409196	1058	K>N		No	ExAC TOPMed gnomAD
rs774723919	1058	K>Q		No	ExAC TOPMed gnomAD
rs1357843301	1058	K>R		No	gnomAD
rs762962251	1059	V>F		No	ExAC gnomAD
rs1571322972	1059	V>G		No	Ensembl
rs11804414 VAR_055283	1061	Q>H		No	UniProt Ensembl dbSNP
rs1415438892	1062	D>N		No	TOPMed
TCGA novel	1066	D>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs748363516	1068	V>M		No	ExAC TOPMed gnomAD
rs775487520	1069	L>F		No	ExAC gnomAD
rs771992106	1070	S>G		No	ExAC TOPMed gnomAD
rs372897460	1070	S>R		No	ESP ExAC TOPMed gnomAD
rs757172035	1071	V>A		No	ExAC gnomAD
rs778730968	1071	V>I		No	ExAC TOPMed gnomAD
rs1674837489	1072	H>D		No	TOPMed
rs201814035	1072	H>R		No	1000Genomes ExAC TOPMed gnomAD
rs1674837154	1073	T>A		No	TOPMed gnomAD
rs1365495524	1073	T>R		No	gnomAD
rs1674836593	1074	D>E		No	Ensembl
rs1008538300	1075	P>A		No	gnomAD
rs1473695249	1076	V>G		No	TOPMed gnomAD
rs1674836146	1076	V>L		No	TOPMed
rs777233810	1077	H>Y		No	ExAC gnomAD
COSM4834032	1078	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1078	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1330365562	1078	L>R		No	gnomAD
rs369323398	1079	Y>C		No	ESP TOPMed gnomAD
rs1203795955	1082	W>*		No	TOPMed
rs1674834894	1082	W>C		No	TOPMed gnomAD
rs1249306444	1083	I>T		No	gnomAD
rs1249074829	1083	I>V		No	TOPMed gnomAD
rs1482324555	1084	N>K		No	TOPMed
rs1184621385	1085	Q>R		No	TOPMed gnomAD
rs548209570	1086	T>I		No	1000Genomes ExAC TOPMed gnomAD
rs548209570	1086	T>N		No	1000Genomes ExAC TOPMed gnomAD
COSM4848244	1087	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs371822257	1088	A>V		No	ESP ExAC TOPMed gnomAD
TCGA novel	1090	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1674833427	1091	G>A		No	TOPMed
rs996189955	1091	G>R		No	TOPMed
rs1674833427	1091	G>V		No	TOPMed
rs751899861	1093	R>C		No	ExAC TOPMed gnomAD
rs777945844	1093	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs777945844	1093	R>L		No	ExAC TOPMed gnomAD
rs763481958	1094	S>N		No	ExAC TOPMed gnomAD
rs1290994268	1095	H>R		No	TOPMed gnomAD
rs749235336	1096	L>F		No	ExAC gnomAD
rs1300181433	1097	P>Q		No	gnomAD
rs12562301 VAR_055284	1097	P>S		No	UniProt TOPMed dbSNP
rs1268516135	1098	Y>C		No	gnomAD
rs1429304484	1099	D>E		No	gnomAD
rs1571320506	1101	T>A		No	TOPMed
rs1674737308	1101	T>I		No	TOPMed gnomAD
rs1674737308	1101	T>N		No	TOPMed gnomAD
rs1571320506	1101	T>P		No	TOPMed
rs780842801	1102	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs780842801	1102	P>R		No	ExAC TOPMed gnomAD
rs2102374070	1103	E>Q		No	Ensembl
rs368383045	1104	Q>K		No	ESP ExAC TOPMed gnomAD
rs374998272	1105	A>D		No	ESP ExAC TOPMed gnomAD
rs1674736424	1105	A>T		No	TOPMed
rs374998272	1105	A>V		No	ESP ExAC TOPMed gnomAD
rs1427576974	1108	H>Q		No	TOPMed gnomAD
rs1674736096	1108	H>Y		No	Ensembl
rs1416717629	1109	P>L		No	TOPMed gnomAD
rs1007582139	1110	E>A		No	TOPMed gnomAD
rs143078859 COSM281963	1110	E>K	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
COSM6121785	1110	E>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1270309617	1111	V>A		No	gnomAD
COSM6121786	1112	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM676440	1113	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs373965074	1114	R>*		No	ESP ExAC TOPMed gnomAD
rs138382649	1114	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1674733512	1115	L>R		No	TOPMed
rs774063098	1116	D>E		No	ExAC gnomAD
COSM1472756	1116	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs375634104	1116	D>Y		No	ESP ExAC TOPMed gnomAD
rs1270936994	1117	I>F		No	gnomAD
rs1270936994	1117	I>V		No	gnomAD
rs879118100	1118	A>G		No	gnomAD
rs762587862	1118	A>T		No	ExAC TOPMed gnomAD
rs879118100	1118	A>V		No	gnomAD
COSM897244	1119	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs374568868	1120	R>C		No	ESP ExAC TOPMed gnomAD
rs769667331	1120	R>H		No	ExAC gnomAD
rs747685615	1121	N>H		No	ExAC gnomAD
COSM676441	1123	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs34980426	1124	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs34980426	1124	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1047175645	1124	A>V		No	TOPMed gnomAD
rs941888016	1125	M>T		No	Ensembl
rs768238598	1125	M>V		No	ExAC TOPMed gnomAD
TCGA novel	1126	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs151040567	1128	K>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1428387833	1129	F>L		No	TOPMed
rs1168987808	1130	L>I		No	TOPMed gnomAD
COSM71190	1130	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1044889247	1133	I>V		No	TOPMed gnomAD
rs1479757030	1134	T>A		No	gnomAD
rs1466453496	1136	S>F		No	TOPMed gnomAD
rs1571320200	1137	V>A		No	Ensembl
rs758796925	1138	D>N		No	ExAC gnomAD
rs1231456487	1141	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1480419034 COSM1688758	1141	P>S	skin [Cosmic]	No	cosmic curated gnomAD
rs554360086	1143	G>E		No	1000Genomes ExAC gnomAD
rs938624413	1145	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs756230667	1145	R>L		No	ExAC TOPMed gnomAD
rs756230667	1145	R>Q		No	ExAC TOPMed gnomAD
rs1391470130	1146	Y>H		No	TOPMed gnomAD
rs924703927	1146	Y>S		No	TOPMed gnomAD
rs1207562143	1147	V>M		No	TOPMed gnomAD
rs1421238365	1148	A>S		No	gnomAD
rs1421238365	1148	A>T		No	gnomAD
rs918449874	1149	K>E		No	TOPMed gnomAD
rs767810321	1150	V>I		No	ExAC TOPMed
rs867143025	1152	K>E		No	TOPMed gnomAD
rs750263948	1153	A>S		No	ExAC gnomAD
rs1674635705	1154	T>A		No	TOPMed
rs200271139	1156	A>T		No	ExAC gnomAD
rs1384908384	1157	E>G		No	gnomAD
rs139419368	1159	F>L		No	ExAC gnomAD
rs1262533620	1160	P>R		No	TOPMed gnomAD
rs1451335870	1160	P>S		No	gnomAD
COSM1983666 rs144453505	1162	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP NCI-TCGA TOPMed gnomAD
rs201252352	1163	T>S		No	1000Genomes ExAC gnomAD
rs980502581	1164	D>E		No	TOPMed gnomAD
TCGA novel rs1674633888	1164	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs569013525	1165	S>N		No	1000Genomes ExAC TOPMed gnomAD
rs368841476	1165	S>R		No	ESP ExAC TOPMed gnomAD
rs569013525	1165	S>T		No	1000Genomes ExAC TOPMed gnomAD
rs1326447517	1166	E>G		No	gnomAD
rs202212274	1166	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1208074033	1167	V>I		No	TOPMed
rs745494645	1168	Y>C		No	ExAC TOPMed gnomAD
rs745494645	1168	Y>F		No	ExAC TOPMed gnomAD
rs1266464195	1170	V>A		No	gnomAD
rs1266464195	1170	V>G		No	gnomAD
rs1438031609	1172	G>R		No	TOPMed gnomAD
rs1193721516	1175	L>R		No	TOPMed gnomAD
rs1263243579	1177	Y>*		No	gnomAD
rs747037548	1178	R>C		No	ExAC TOPMed gnomAD
rs780278881	1178	R>H		No	ExAC TOPMed gnomAD
rs780278881	1178	R>L		No	ExAC TOPMed gnomAD
rs747037548	1178	R>S		No	ExAC TOPMed gnomAD
rs1259578487	1180	L>Q		No	TOPMed
rs1328363713	1182	P>S		No	gnomAD
rs763776069	1183	A>T		No	ExAC TOPMed gnomAD
rs1408333695	1184	V>L		No	gnomAD
rs1408333695	1184	V>M		No	gnomAD
rs1044631921	1186	A>P		No	TOPMed gnomAD
rs1044631921	1186	A>T		No	TOPMed gnomAD
rs2102366857	1187	P>S		No	Ensembl
rs752573298	1188	D>E		No	ExAC TOPMed gnomAD
rs2102366839	1188	D>G		No	Ensembl
rs1427182149	1188	D>N		No	TOPMed gnomAD
COSM897243 rs571490438	1189	A>T	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs372754465	1190	F>L		No	ESP ExAC TOPMed gnomAD
rs1674604727	1191	D>G		No	TOPMed gnomAD
rs143013907	1191	D>H		No	ESP ExAC TOPMed gnomAD
rs143013907	1191	D>N		No	ESP ExAC TOPMed gnomAD
rs766172724	1192	I>T		No	ExAC TOPMed gnomAD
rs1674604500	1192	I>V		No	Ensembl
rs1202540492	1193	V>M		No	TOPMed gnomAD
rs1461254405	1194	A>T		No	TOPMed gnomAD
rs1261888913	1195	M>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs773681273	1196	A>V		No	ExAC gnomAD
rs770046394	1198	G>D		No	ExAC TOPMed gnomAD
rs770046394	1198	G>V		No	ExAC TOPMed gnomAD
rs762168066	1200	A>P		No	ExAC TOPMed gnomAD
rs762168066	1200	A>S		No	ExAC TOPMed gnomAD
rs762168066	1200	A>T		No	ExAC TOPMed gnomAD
rs1385318345	1202	A>G		No	TOPMed gnomAD
rs1237110261	1202	A>T		No	gnomAD
rs1385318345	1202	A>V		No	TOPMed gnomAD
rs769106341	1203	A>G		No	ExAC TOPMed gnomAD
rs777139627	1203	A>T		No	ExAC TOPMed gnomAD
rs769106341	1203	A>V		No	ExAC TOPMed gnomAD
rs780079511	1204	P>H		No	ExAC TOPMed gnomAD
rs780079511	1204	P>L		No	ExAC TOPMed gnomAD
rs1557920557	1205	Q>P		No	Ensembl
COSM1334857	1205	Q>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs772330297	1206	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs777692127	1206	R>H		No	ExAC TOPMed gnomAD
rs777692127	1206	R>L		No	ExAC TOPMed gnomAD
rs755867999	1207	H>Q		No	ExAC gnomAD
rs1293133013	1207	H>R		No	TOPMed
rs1674598275	1209	L>V		No	TOPMed
rs1674598062	1210	G>V		No	Ensembl
rs752486044	1213	A>S		No	ExAC TOPMed gnomAD
rs752486044	1213	A>T		No	ExAC TOPMed gnomAD
rs1182441694	1213	A>V		No	gnomAD
rs1488252066	1214	Q>*		No	TOPMed gnomAD
TCGA novel	1214	Q>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1267307862	1216	L>P		No	gnomAD
rs1674596356	1217	Q>*		No	TOPMed gnomAD
rs1674596219	1217	Q>P		No	gnomAD
rs1244218925	1218	H>L		No	TOPMed gnomAD
rs1448115990	1218	H>Q		No	TOPMed gnomAD
rs751162526	1218	H>Y		No	ExAC gnomAD
rs1283974670	1219	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs762728562	1220	A>T		No	ExAC gnomAD
rs750045432	1220	A>V		No	ExAC TOPMed gnomAD
rs115501756	1221	A>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1417808301	1224	A>T		No	TOPMed gnomAD
rs202218482	1224	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1674593166	1226	S>P		No	Ensembl
rs775604752	1228	Q>H		No	ExAC gnomAD
rs772042464	1230	Q>E		No	ExAC gnomAD
rs1421071932	1233	R>G		No	TOPMed gnomAD
rs745895086	1233	R>L		No	ExAC TOPMed gnomAD
rs745895086	1233	R>P		No	ExAC TOPMed gnomAD
rs745895086	1233	R>Q		No	ExAC TOPMed gnomAD
rs1421071932 COSM897242	1233	R>W	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1674591919	1234	V>D		No	TOPMed
TCGA novel	1235	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1476037569	1235	L>Q		No	gnomAD
rs1386887766	1235	L>V		No	TOPMed gnomAD
rs1674591481	1236	N>T		No	TOPMed
COSM897241	1237	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs569358399	1237	D>Y		No	1000Genomes ExAC TOPMed gnomAD
rs747933758	1238	Y>C		No	ExAC TOPMed gnomAD
rs747933758	1238	Y>S		No	ExAC TOPMed gnomAD
rs781111183	1240	E>K		No	ExAC gnomAD
COSM1688757 rs1353557109	1241	E>K	skin [Cosmic]	No	cosmic curated TOPMed gnomAD
rs1674590129	1242	T>A		No	TOPMed gnomAD
rs147048069	1242	T>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1026638311	1244	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs1275233616	1244	L>P		No	gnomAD
rs1287004029	1245	K>N		No	TOPMed gnomAD
rs2102366033	1245	K>Q		No	Ensembl
rs2102366021	1245	K>T		No	Ensembl
rs1674588892	1246	F>I		No	Ensembl
rs2102365972	1246	F>L		No	Ensembl
rs1674588892	1246	F>V		No	Ensembl
rs2102365981	1246	F>Y		No	Ensembl
rs1251845395	1247	R>T		No	Ensembl
rs1674567263	1248	K>R		No	Ensembl
rs1674566970	1249	F>L		No	TOPMed
rs1480633230	1250	I>T		No	TOPMed gnomAD
rs1476198906	1252	R>*		No	TOPMed gnomAD
TCGA novel	1252	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1183205478	1252	R>S		No	gnomAD
rs775484026	1253	A>D		No	TOPMed gnomAD
rs775484026	1253	A>V		No	TOPMed gnomAD
rs1674565589	1254	C>Y		No	TOPMed
rs1674565375	1255	Q>E		No	Ensembl
rs1674565190	1255	Q>R		No	Ensembl
rs1471255677	1256	V>M		No	TOPMed gnomAD
rs1430538138	1259	P>A		No	TOPMed gnomAD
TCGA novel	1260	E>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs201294509	1260	E>G		No	ExAC gnomAD
rs1674564380	1261	E>D		No	TOPMed
rs1431867385	1261	E>K		No	gnomAD
rs745414553	1262	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs370202616	1262	R>H		No	ESP ExAC TOPMed gnomAD
rs745414553	1262	R>S		No	ExAC gnomAD
rs756919242	1265	V>A		No	ExAC gnomAD
rs756919242	1265	V>E		No	ExAC gnomAD
rs756919242	1265	V>G		No	ExAC gnomAD
rs1480410694	1265	V>L		No	gnomAD
rs756485161	1267	E>D		No	ExAC gnomAD
rs763670878	1267	E>K		No	ExAC TOPMed gnomAD
rs1011415127	1268	Y>F		No	TOPMed
rs1674562544	1268	Y>H		No	Ensembl
COSM414434	1269	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs746137836	1269	S>L		No	Ensembl
rs753018040	1271	M>L		No	ExAC TOPMed gnomAD
rs753018040	1271	M>V		No	ExAC TOPMed gnomAD
rs1674561885	1272	V>M		No	Ensembl
rs1674561756	1273	A>T		No	Ensembl
rs1674561593	1273	A>V		No	Ensembl
rs1674561390	1276	K>R		No	TOPMed
rs1674561390	1276	K>T		No	TOPMed
rs1674561240	1277	P>S		No	Ensembl
rs1370664710	1278	M>I		No	gnomAD
rs760065612	1278	M>T		No	ExAC TOPMed gnomAD
rs767948068	1278	M>V		No	ExAC TOPMed gnomAD
rs774351199	1279	V>G		No	ExAC TOPMed gnomAD
rs1674560285	1280	Y>C		No	TOPMed
rs1031579605	1280	Y>N		No	Ensembl
rs766472609	1281	I>F		No	ExAC TOPMed gnomAD
rs766472609	1281	I>L		No	ExAC TOPMed gnomAD
rs1336715159	1282	T>A		No	gnomAD
rs1464962409	1282	T>I		No	gnomAD
rs577894649	1283	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs1418740694	1285	E>Q		No	TOPMed gnomAD
rs1020441422	1286	L>P		No	Ensembl
rs770089295	1287	V>D		No	ExAC TOPMed gnomAD
rs770089295	1287	V>G		No	ExAC TOPMed gnomAD
rs1185654778	1287	V>I		No	TOPMed gnomAD
COSM1210865 rs374432144	1289	T>M	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1486784643	1290	H>P		No	TOPMed gnomAD
rs1486784643	1290	H>R		No	TOPMed gnomAD
rs1248389383	1290	H>Y		No	gnomAD
rs139750477	1291	R>K		No	ESP ExAC TOPMed gnomAD
rs139750477	1291	R>M		No	ESP ExAC TOPMed gnomAD
rs771897582	1292	L>V		No	ExAC TOPMed gnomAD
rs1338961852	1293	L>S		No	gnomAD
COSM78970 rs550783446	1295	E>*	Variant assessed as Somatic; HIGH impact. ovary [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs550783446	1295	E>Q		No	1000Genomes ExAC gnomAD
rs770807329	1296	H>R		No	ExAC gnomAD
rs200326429	1297	Q>H		No	ExAC TOPMed gnomAD
rs1243252196	1297	Q>K		No	TOPMed gnomAD
rs149436838	1299	C>Y		No	ESP gnomAD
rs747953456	1303	D>E		No	TOPMed
rs377548871	1306	D>E		No	ESP TOPMed
rs1674544047	1307	P>S		No	TOPMed gnomAD
rs1159514618	1308	L>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs148123915	1309	H>P		No	ESP ExAC TOPMed gnomAD
rs148123915	1309	H>R		No	ESP ExAC TOPMed gnomAD
rs1490087155	1310	E>K		No	gnomAD
TCGA novel	1313	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1264740904	1314	D>G		No	gnomAD
TCGA novel	1314	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1674542499	1315	L>F		No	TOPMed
rs373422449	1315	L>P		No	ESP ExAC TOPMed gnomAD
rs1674542173	1316	G>E		No	TOPMed
rs755378821	1320	T>I		No	ExAC TOPMed gnomAD
rs368946935	1322	P>R		No	ESP ExAC TOPMed gnomAD
rs758946296 COSM1688756	1322	P>S	skin [Cosmic]	No	cosmic curated ExAC gnomAD
rs758946296	1322	P>T		No	ExAC gnomAD
COSM897239	1324	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1337463188	1325	I>T		No	TOPMed gnomAD
rs1321892567	1325	I>V		No	gnomAD
rs766156848	1326	G>A		No	ExAC TOPMed gnomAD
rs766156848	1326	G>V		No	ExAC TOPMed gnomAD
rs200172264	1330	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs1184793695	1332	D>H		No	gnomAD
rs1442306955	1332	D>V		No	TOPMed gnomAD
rs1276975465	1333	G>R		No	TOPMed gnomAD
rs761414559	1335	T>A		No	ExAC TOPMed gnomAD
rs775971236	1335	T>M		No	ExAC TOPMed gnomAD
TCGA novel	1336	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs746631809	1337	L>P		No	ExAC gnomAD
rs199559347	1338	S>N		No	ExAC TOPMed gnomAD
rs1431374194	1338	S>R		No	TOPMed gnomAD
rs1206474483	1339	K>N		No	Ensembl
rs1447231849	1341	E>*		No	gnomAD
rs1180000708	1341	E>V		No	gnomAD
rs181686681	1342	V>M		No	1000Genomes
rs149943912	1343	S>F		No	ExAC gnomAD
rs374933643	1345	T>K		No	ESP ExAC TOPMed gnomAD
rs374933643	1345	T>M		No	ESP ExAC TOPMed gnomAD
rs1674488742	1346	L>M		No	gnomAD
rs1289104213	1347	T>A		No	Ensembl
rs1426130644	1349	K>N		No	TOPMed gnomAD
rs559588528	1352	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs756424506	1353	L>Q		No	ExAC gnomAD
rs1241949492	1355	A>V		No	TOPMed gnomAD
rs2102361468	1356	D>E		No	Ensembl
rs752919807	1356	D>N		No	ExAC gnomAD
rs1674486694	1357	A>T		No	TOPMed
rs1442287727	1358	D>Y		No	TOPMed
rs1571313410	1359	D>A		No	Ensembl
rs767668282	1361	N>D		No	ExAC gnomAD
rs758207580	1361	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1674485383	1362	T>N		No	TOPMed gnomAD
rs1571313385	1362	T>P		No	Ensembl
rs200621017	1363	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs747927362	1363	R>H		No	ExAC TOPMed gnomAD
COSM424127	1364	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs761631681	1365	L>V		No	ExAC gnomAD
rs1674484357	1366	L>F		No	Ensembl
rs1355808398	1370	K>Q		No	gnomAD
rs761540898	1374	A>T		No	gnomAD
rs932853971	1375	D>G		No	TOPMed
rs750264298	1375	D>N		No	ExAC TOPMed gnomAD
rs1182288433	1376	I>N		No	TOPMed gnomAD
rs1182288433	1376	I>T		No	TOPMed gnomAD
rs1674380872	1377	I>M		No	TOPMed gnomAD
rs1013823557	1377	I>T		No	Ensembl
rs1426286757	1378	Q>R		No	gnomAD
rs757288842	1380	H>L		No	ExAC gnomAD
rs1250582381 COSM1254912	1381	P>L	oesophagus [Cosmic]	No	cosmic curated TOPMed
rs1557917141	1385	L>R		No	Ensembl
rs753727497	1387	E>D		No	ExAC gnomAD
rs749068871	1387	E>K		No	Ensembl
rs1471427198	1388	I>T		No	TOPMed gnomAD
rs1160961023	1389	L>V		No	TOPMed
rs1674378908	1390	S>F		No	TOPMed
rs764039088	1391	L>F		No	ExAC gnomAD
rs752215135	1392	S>*		No	ExAC TOPMed gnomAD
rs760284790	1392	S>A		No	ExAC TOPMed gnomAD
rs752215135	1392	S>L		No	ExAC TOPMed gnomAD
rs760284790	1392	S>P		No	ExAC TOPMed gnomAD
rs752215135	1392	S>W		No	ExAC TOPMed gnomAD
rs936790730	1393	A>S		No	Ensembl
COSM1688755	1394	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1265428747	1398	E>K		No	TOPMed gnomAD
rs1159523671	1399	A>V		No	gnomAD
rs765779794	1401	H>Q		No	ExAC gnomAD
rs1674330041	1401	H>R		No	Ensembl
COSM297433	1402	K>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs115742679	1402	K>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1424336317	1404	L>M		No	gnomAD
rs1036193393	1405	M>T		No	TOPMed
rs1165058203	1405	M>V		No	TOPMed gnomAD
rs1006175376	1406	S>G		No	Ensembl
rs776760949	1407	R>*		No	ExAC gnomAD
rs776760949	1407	R>G		No	ExAC gnomAD
rs768730139	1407	R>Q		No	ExAC TOPMed gnomAD
rs1263593520	1408	R>C		No	TOPMed gnomAD
rs747056561	1408	R>H		No	ExAC TOPMed gnomAD
rs747056561	1408	R>L		No	ExAC TOPMed gnomAD
rs1350985977	1409	Q>E		No	TOPMed gnomAD
rs1044754353	1410	A>D		No	TOPMed gnomAD
rs775597435	1410	A>S		No	ExAC TOPMed gnomAD
rs775597435	1410	A>T		No	ExAC TOPMed gnomAD
rs1044754353	1410	A>V		No	TOPMed gnomAD
rs772302314	1411	C>Y		No	ExAC gnomAD
rs1320186125	1412	T>I		No	TOPMed gnomAD
rs1342817600	1413	A>T		No	gnomAD
rs373374039	1414	Q>E		No	ESP ExAC TOPMed gnomAD
rs777605892	1415	T>A		No	ExAC gnomAD
rs756180940	1416	P>L		No	ExAC gnomAD
rs373353178	1417	E>K		No	ESP TOPMed gnomAD
rs1367944011	1417	E>V		No	TOPMed gnomAD
rs781214033	1420	R>*		No	ExAC TOPMed gnomAD
rs754553573	1420	R>L		No	ExAC TOPMed gnomAD
rs754553573	1420	R>Q		No	ExAC TOPMed gnomAD
rs751036559	1421	R>*		No	1000Genomes ExAC TOPMed gnomAD
rs751036559	1421	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs143959866	1421	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1487105868	1422	H>P		No	TOPMed gnomAD
rs1487105868	1422	H>R		No	TOPMed gnomAD
rs758045685	1423	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs201070239	1423	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs201070239	1423	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs762101212	1424	S>*		No	ExAC gnomAD
COSM424126	1424	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs760701034	1425	L>P		No	ExAC gnomAD
rs764537559	1425	L>V		No	ExAC TOPMed gnomAD
rs2102353692	1427	A>S		No	Ensembl
rs775613036	1428	H>D		No	ExAC TOPMed gnomAD
rs772234683	1428	H>P		No	ExAC TOPMed gnomAD
rs772234683	1428	H>R		No	ExAC TOPMed gnomAD
rs775613036 COSM3475293	1428	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs746092752	1429	S>P		No	ExAC gnomAD
rs1674321707	1430	L>F		No	TOPMed
rs199748084	1430	L>P		No	ExAC gnomAD
rs1463473199	1431	L>Q		No	gnomAD
rs368700057	1432	P>L		No	Ensembl
rs769722333	1432	P>S		No	ExAC gnomAD
rs1553222065	1434	A>S		No	Ensembl
rs1476751588	1434	A>V		No	gnomAD
rs1571308872	1435	E>D		No	Ensembl
rs1431122691	1437	Q>L		No	gnomAD
rs1431122691	1437	Q>R		No	gnomAD
rs781305314	1438	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
COSM897237 rs374144760	1438	R>W	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1196965387	1439	R>C		No	gnomAD
rs201439773 COSM4601857	1439	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs764813770	1440	V>G		No	ExAC TOPMed gnomAD
rs750097388	1440	V>I		No	ExAC TOPMed gnomAD
rs199533607	1442	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs757641500	1442	R>W		No	ExAC TOPMed gnomAD
rs1674317777	1443	N>K		No	Ensembl
rs372435844	1445	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs372435844	1445	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs386635735	1445	R>H		No	Ensembl
rs149623112	1445	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs759473769	1446	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs774732936	1446	R>L		No	ExAC TOPMed gnomAD
rs774732936	1446	R>Q		No	ExAC TOPMed gnomAD
rs1253971663	1449	A>V		No	TOPMed
rs1172892876	1451	G>A		No	TOPMed gnomAD
rs1172892876	1451	G>E		No	TOPMed gnomAD
rs527875561	1452	L>F		No	1000Genomes ExAC TOPMed gnomAD
rs771234105	1452	L>V		No	ExAC gnomAD
rs374687381	1455	A>D		No	1000Genomes ESP ExAC TOPMed gnomAD
rs368191209	1455	A>P		No	ESP ExAC TOPMed gnomAD
rs368191209	1455	A>S		No	ESP ExAC TOPMed gnomAD
rs368191209	1455	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1456788289	1456	R>T		No	TOPMed gnomAD
rs1553221988	1460	Q>H		No	Ensembl
rs745334511	1460	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1254545669	1461	G>E		No	gnomAD
rs1344744635	1461	G>R		No	gnomAD
rs756872734	1462	L>P		No	ExAC gnomAD
rs374068925	1464	D>E		No	ESP ExAC TOPMed gnomAD
rs1373961336	1464	D>N		No	TOPMed gnomAD
rs756649345	1465	E>K		No	ExAC TOPMed gnomAD
rs756649345	1465	E>Q		No	ExAC TOPMed gnomAD
TCGA novel	1466	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1395302229	1466	L>Q		No	gnomAD
rs1264403958	1468	K>E		No	gnomAD
rs548733563	1469	D>E		No	1000Genomes ExAC TOPMed gnomAD
rs1571306735	1469	D>G		No	Ensembl
rs745422432	1469	D>N		No	ExAC gnomAD
rs1354101666	1470	I>M		No	gnomAD
rs1372902541	1470	I>V		No	TOPMed gnomAD
rs748938834	1471	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs748938834	1471	R>G		No	ExAC TOPMed gnomAD
rs186469606	1471	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs1674255418	1472	N>H		No	Ensembl
rs1339815305	1472	N>S		No	TOPMed
rs201296692	1475	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA gnomAD
rs781740971	1475	R>S		No	ExAC gnomAD
rs1674254774	1476	H>Y		No	TOPMed
rs1322251401	1478	H>R		No	gnomAD
COSM6121787	1480	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs755414222	1480	R>Q		No	ExAC TOPMed gnomAD
rs1405303915	1480	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1173447569	1484	L>V		No	gnomAD
rs2102349761	1485	V>G		No	Ensembl
rs1478382549	1489	A>V		No	gnomAD
rs1557914785	1491	L>V		No	Ensembl
rs1674252685	1492	Q>*		No	TOPMed
COSM424123	1492	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1213616202	1492	Q>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
TCGA novel	1494	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1571306575	1498	T>P		No	Ensembl
rs1571306568	1499	T>P		No	Ensembl
rs375639213	1501	Y>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1674250872	1503	E>G		No	TOPMed
rs1198172911	1503	E>K		No	TOPMed gnomAD
rs1259984410	1504	Q>*		No	gnomAD
rs374572830	1504	Q>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1557914726	1505	G>S		No	Ensembl
rs765330384	1506	D>V		No	ExAC gnomAD
rs760551838	1507	Y>C		No	ExAC TOPMed gnomAD
rs1255870747	1507	Y>H		No	gnomAD
rs200817577	1508	Y>C		No	ExAC gnomAD
rs200817577	1508	Y>S		No	ExAC gnomAD
rs918573301	1509	S>G		No	TOPMed gnomAD
rs1378448540	1509	S>N		No	gnomAD
rs1334001596	1509	S>R		No	gnomAD
rs759460179	1510	Q>H		No	ExAC gnomAD
rs773920999	1512	I>L		No	ExAC TOPMed gnomAD
rs762945955	1512	I>T		No	ExAC TOPMed gnomAD
rs769295448	1513	R>P		No	ExAC TOPMed gnomAD
rs769295448 COSM245055	1513	R>Q	prostate [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs772944929 COSM1983638	1513	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1240065885	1514	A>V		No	TOPMed gnomAD
TCGA novel	1515	C>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs927398930	1516	L>Q		No	TOPMed gnomAD
rs1266006251	1516	L>V		No	TOPMed gnomAD
COSM463153	1517	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs748590937	1518	H>N		No	ExAC TOPMed gnomAD
rs781396792	1520	A>V		No	ExAC gnomAD
rs1277547601	1522	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
COSM206864 rs182191022	1522	D>N	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs758575418	1523	S>A		No	ExAC TOPMed gnomAD
rs758575418	1523	S>P		No	ExAC TOPMed gnomAD
rs1355269900	1524	K>E		No	gnomAD
rs746009021	1524	K>N		No	ExAC TOPMed gnomAD
rs534306897	1525	S>N		No	1000Genomes ExAC TOPMed gnomAD
rs534306897	1525	S>T		No	1000Genomes ExAC TOPMed gnomAD
rs757569398	1526	S>F		No	ExAC gnomAD
TCGA novel	1526	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1674226485	1528	K>R		No	TOPMed gnomAD
rs1674225983	1529	G>W		No	TOPMed gnomAD
COSM897235	1530	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1674225128	1532	Q>P		No	TOPMed
rs751322327	1533	P>A		No	ExAC TOPMed gnomAD
COSM1210864	1533	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1185448855	1533	P>L		No	gnomAD
rs751322327	1533	P>T		No	ExAC TOPMed gnomAD
rs566920540	1534	S>C		No	1000Genomes ExAC gnomAD
rs1674224308	1536	H>Y		No	Ensembl
rs1195100345	1537	Y>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1674224148	1537	Y>H		No	TOPMed
rs1674223851	1539	A>T		No	Ensembl
rs750015693	1539	A>V		No	ExAC gnomAD
rs764657941	1540	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs2102348239	1541	Q>*		No	Ensembl
rs1170037019	1545	K>E		No	gnomAD
COSM1983637	1545	K>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs903235425	1546	G>S		No	TOPMed gnomAD
rs776169578	1547	V>A		No	ExAC gnomAD
rs373589838	1547	V>I		No	ESP ExAC TOPMed gnomAD
rs1674222106	1548	L>F		No	Ensembl
rs1231915008	1550	E>D		No	gnomAD
rs945183114	1550	E>K		No	gnomAD
rs915061726	1551	I>S		No	TOPMed gnomAD
rs915061726	1551	I>T		No	TOPMed gnomAD
rs1342756599	1553	D>Y		No	gnomAD
rs775975965	1554	L>F		No	ExAC TOPMed gnomAD
rs746360155 COSM3475292	1555	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs150194624	1556	A>D		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM321035 rs770932490	1556	A>T	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs778008212	1557	S>F		No	ExAC gnomAD
TCGA novel	1558	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2102346464	1561	N>S		No	Ensembl
rs748373017	1562	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs148071620	1563	I>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1337844830	1565	D>Y		No	gnomAD
rs561559322	1567	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs561559322	1567	T>R		No	1000Genomes ExAC TOPMed gnomAD
rs148884446	1568	P>L		No	ESP ExAC TOPMed gnomAD
rs1674186694	1569	G>E		No	TOPMed gnomAD
rs1557913544	1571	E>*		No	Ensembl
rs1674186021	1572	A>S		No	Ensembl
COSM676445	1580	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs149888734	1580	K>R		No	ESP ExAC TOPMed gnomAD
rs1674184787	1581	F>L		No	gnomAD
rs1303105910	1583	G>S		No	TOPMed gnomAD
rs1557913506	1584	V>M		No	Ensembl
rs1351418501	1585	D>H		No	TOPMed gnomAD
rs1351418501	1585	D>N		No	TOPMed gnomAD
rs576030971	1586	M>I		No	Ensembl
rs1436743385	1586	M>V		No	TOPMed gnomAD
RCV001814856 rs202051702	1588	R>*		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
COSM897234 rs536339169	1588	R>Q	endometrium [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1591	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs908248276	1592	H>P		No	TOPMed
COSM414435 rs1381538252	1592	H>Y	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs919613893	1593	Y>C		No	TOPMed gnomAD
rs919613893	1593	Y>S		No	TOPMed gnomAD
rs1436475408	1594	Q>*		No	TOPMed gnomAD
rs972868906	1594	Q>H		No	TOPMed gnomAD
rs1200130702	1595	D>G		No	TOPMed
COSM1196741 rs766767647	1595	D>N	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1488681297	1598	Q>H		No	gnomAD
COSM4023301	1598	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1283598547	1599	L>V		No	gnomAD
rs1177739909	1600	Q>K		No	TOPMed gnomAD
rs370104469	1601	Y>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs765690308	1602	E>D		No	ExAC gnomAD
rs1180862405	1602	E>G		No	gnomAD
rs1674075307	1602	E>K		No	Ensembl
rs761919172	1603	G>D		No	ExAC TOPMed gnomAD
rs761919172	1603	G>V		No	ExAC TOPMed gnomAD
rs867666505	1605	A>V		No	Ensembl
rs76066961	1606	V>G		No	ExAC gnomAD
TCGA novel	1607	M>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs545844001	1607	M>V		No	1000Genomes gnomAD
rs1571301576	1608	K>N		No	Ensembl
rs1234245424	1608	K>R		No	TOPMed gnomAD
rs768818979	1610	F>S		No	ExAC gnomAD
rs1674071915	1611	N>H		No	TOPMed
rs1284542510	1611	N>S		No	TOPMed gnomAD
rs376705823	1612	K>E		No	ESP ExAC TOPMed gnomAD
rs1399468126	1613	A>T		No	gnomAD
rs1393596111	1616	N>S		No	TOPMed gnomAD
rs770866104	1617	V>I		No	ExAC TOPMed gnomAD
rs112789999	1618	N>D		No	Ensembl
rs777892794	1618	N>S		No	ExAC TOPMed gnomAD
rs769826763	1621	I>L		No	ExAC TOPMed gnomAD
rs1490874613	1621	I>N		No	TOPMed
rs368342583	1622	F>L		No	ESP ExAC TOPMed gnomAD
COSM3862978	1624	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs780744414	1625	N>D		No	ExAC TOPMed gnomAD
rs576879007	1625	N>S		No	Ensembl
rs754377033	1626	K>E		No	ExAC TOPMed gnomAD
rs1674065730	1626	K>N		No	TOPMed
rs142700943	1626	K>R		No	1000Genomes ExAC TOPMed gnomAD
rs1674065550	1627	K>R		No	Ensembl
rs779522790	1629	L>W		No	ExAC gnomAD
COSM1319899	1630	R>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs140982853 COSM4023300	1630	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs758791623	1630	R>W		No	ExAC TOPMed gnomAD
rs111703322	1632	K>C		No	Ensembl

No associated diseases with Q86VI3

8 regional properties for Q86VI3

Type	Name	Position	InterPro Accession
binding_site	IQ motif, EF-hand binding site	729 - 751	IPR000048-1
binding_site	IQ motif, EF-hand binding site	759 - 781	IPR000048-2
binding_site	IQ motif, EF-hand binding site	789 - 811	IPR000048-3
binding_site	IQ motif, EF-hand binding site	819 - 841	IPR000048-4
domain	RasGAP protein, C-terminal	1433 - 1555	IPR000593
domain	Calponin homology domain	34 - 149	IPR001715
domain	Ras GTPase-activating domain	976 - 1329	IPR001936
conserved_site	Ras GTPase-activating protein, conserved site	1173 - 1187	IPR023152

Functions

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

4 GO annotations of cellular component

Name	Definition
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-cell junction	A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
lateral plasma membrane	The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells.

5 GO annotations of molecular function

Name	Definition
actin filament binding	Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
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.
myosin VI light chain binding	Binding to a light chain of a myosin VI complex.
small GTPase binding	Binding to a small monomeric GTPase.

13 GO annotations of biological process

Name	Definition
cellular response to organic substance	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus.
ERK1 and ERK2 cascade	An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier
G1/S transition of mitotic cell cycle	The mitotic cell cycle transition by which a cell in G1 commits to S phase. The process begins with the build up of G1 cyclin-dependent kinase (G1 CDK), resulting in the activation of transcription of G1 cyclins. The process ends with the positive feedback of the G1 cyclins on the G1 CDK which commits the cell to S phase, in which DNA replication is initiated.
gene expression	The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes.
mammary gland epithelial cell proliferation	The multiplication or reproduction of mammary gland epithelial cells, resulting in the expansion of a cell population. Mammary gland epithelial cells make up the covering of surfaces of the mammary gland. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk.
mitotic actomyosin contractile ring assembly actin filament organization	Any actin filament organization that is involved in mitotic actomyosin contractile ring assembly.
negative regulation of gene expression	Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of mammary gland epithelial cell proliferation	Any process that activates or increases the rate or extent of mammary gland epithelial cell proliferation.
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of protein phosphorylation	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
Ras protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state.
regulation of cell size	Any process that modulates the size of a cell.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P46940	IQGAP1	Ras GTPase-activating-like protein IQGAP1	Homo sapiens (Human)	EV
Q13576	IQGAP2	Ras GTPase-activating-like protein IQGAP2	Homo sapiens (Human)	SS
Q3UQ44	Iqgap2	Ras GTPase-activating-like protein IQGAP2	Mus musculus (Mouse)	SS
Q9JKF1	Iqgap1	Ras GTPase-activating-like protein IQGAP1	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MERRAAGPGW	AAYERLTAEE	MDEQRRQNVA	YQYLCRLEEA	KRWMEACLKE	ELPSPVELEE
70	80	90	100	110	120
SLRNGVLLAK	LGHCFAPSVV	PLKKIYDVEQ	LRYQATGLHF	RHTDNINFWL	SAIAHIGLPS
130	140	150	160	170	180
TFFPETTDIY	DKKNMPRVVY	CIHALSLFLF	RLGLAPQIHD	LYGKVKFTAE	ELSNMASELA
190	200	210	220	230	240
KYGLQLPAFS	KIGGILANEL	SVDEAAVHAA	VLAINEAVER	GVVEDTLAAL	QNPSALLENL
250	260	270	280	290	300
REPLAAVYQE	MLAQAKMEKA	ANARNHDDRE	SQDIYDHYLT	QAEIQGNINH	VNVHGALEVV
310	320	330	340	350	360
DDALERQSPE	ALLKALQDPA	LALRGVRRDF	ADWYLEQLNS	DREQKAQELG	LVELLEKEEV
370	380	390	400	410	420
QAGVAAANTK	GDQEQAMLHA	VQRINKAIRR	RVAADTVKEL	MCPEAQLPPV	YPVASSMYQL
430	440	450	460	470	480
ELAVLQQQQG	ELGQEELFVA	VEMLSAVVLI	NRALEARDAS	GFWSSLVNPA	TGLAEVEGEN
490	500	510	520	530	540
AQRYFDALLK	LRQERGMGED	FLSWNDLQAT	VSQVNAQTQE	ETDRVLAVSL	INEALDKGSP
550	560	570	580	590	600
EKTLSALLLP	AAGLDDVSLP	VAPRYHLLLV	AAKRQKAQVT	GDPGAVLWLE	EIRQGVVRAN
610	620	630	640	650	660
QDTNTAQRMA	LGVAAINQAI	KEGKAAQTER	VLRNPAVALR	GVVPDCANGY	QRALESAMAK
670	680	690	700	710	720
KQRPADTAFW	VQHDMKDGTA	YYFHLQTFQG	IWEQPPGCPL	NTSHLTREEI	QSAVTKVTAA
730	740	750	760	770	780
YDRQQLWKAN	VGFVIQLQAR	LRGFLVRQKF	AEHSHFLRTW	LPAVIKIQAH	WRGYRQRKIY
790	800	810	820	830	840
LEWLQYFKAN	LDAIIKIQAW	ARMWAARRQY	LRRLHYFQKN	VNSIVKIQAF	FRARKAQDDY
850	860	870	880	890	900
RILVHAPHPP	LSVVRRFAHL	LNQSQQDFLA	EAELLKLQEE	VVRKIRSNQQ	LEQDLNIMDI
910	920	930	940	950	960
KIGLLVKNRI	TLQEVVSHCK	KLTKRNKEQL	SDMMVLDKQK	GLKSLSKEKR	QKLEAYQHLF
970	980	990	1000	1010	1020
YLLQTQPIYL	AKLIFQMPQN	KTTKFMEAVI	FSLYNYASSR	REAYLLLQLF	KTALQEEIKS
1030	1040	1050	1060	1070	1080
KVEQPQDVVT	GNPTVVRLVV	RFYRNGRGQS	ALQEILGKVI	QDVLEDKVLS	VHTDPVHLYK
1090	1100	1110	1120	1130	1140
NWINQTEAQT	GQRSHLPYDV	TPEQALSHPE	VQRRLDIALR	NLLAMTDKFL	LAITSSVDQI
1150	1160	1170	1180	1190	1200
PYGMRYVAKV	LKATLAEKFP	DATDSEVYKV	VGNLLYYRFL	NPAVVAPDAF	DIVAMAAGGA
1210	1220	1230	1240	1250	1260
LAAPQRHALG	AVAQLLQHAA	AGKAFSGQSQ	HLRVLNDYLE	ETHLKFRKFI	HRACQVPEPE
1270	1280	1290	1300	1310	1320
ERFAVDEYSD	MVAVAKPMVY	ITVGELVNTH	RLLLEHQDCI	APDHQDPLHE	LLEDLGELPT
1330	1340	1350	1360	1370	1380
IPDLIGESIA	ADGHTDLSKL	EVSLTLTNKF	EGLEADADDS	NTRSLLLSTK	QLLADIIQFH
1390	1400	1410	1420	1430	1440
PGDTLKEILS	LSASREQEAA	HKQLMSRRQA	CTAQTPEPLR	RHRSLTAHSL	LPLAEKQRRV
1450	1460	1470	1480	1490	1500
LRNLRRLEAL	GLVSARNGYQ	GLVDELAKDI	RNQHRHRHRR	KAELVKLQAT	LQGLSTKTTF
1510	1520	1530	1540	1550	1560
YEEQGDYYSQ	YIRACLDHLA	PDSKSSGKGK	KQPSLHYTAA	QLLEKGVLVE	IEDLPASHFR
1570	1580	1590	1600	1610	1620
NVIFDITPGD	EAGKFEVNAK	FLGVDMERFQ	LHYQDLLQLQ	YEGVAVMKLF	NKAKVNVNLL
1630
IFLLNKKFLR	K