AiPD: Autoinhibited Protein Database

Q70Z35

Gene name	PREX2 (DEPDC2)
Protein name	Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein
Names	P-Rex2 , PtdIns, 3,4,5-dependent Rac exchanger 2 , DEP domain-containing protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:80243
EC number
Protein Class

Descriptions

Phosphatidylinositol (3,4,5)-trisphosphate (PIP3)-dependent Rac exchanger 1 (P-Rex1) catalyzes the exchange of GDP for GTP on Rac GTPases, thereby triggering changes in the actin cytoskeleton and in transcription. P-Rex1 contains a DH domain, a PH domain, two DEP domains, and two PDZ domains. The DEP1 domain alone can autoinhibit the activity of P-Rex1 by interacting with the DH/PH domains.

Autoinhibitory domains (AIDs)

378-467 (DEP1 domain) SS

Target domain	12-377 (DH/PH domains)
Relief mechanism	Ligand binding, Partner binding
Assay

AID

378-467 (DEP1 domain)

Target domain

12-377 (DH/PH domains)

Relief mechanism

Ligand binding (PIP3 binding to PH domain), Partner binding (Gβγ binding)

Assay

Accessory elements

No accessory elements

References

Ravala SK et al. (2020) "The first DEP domain of the RhoGEF P-Rex1 autoinhibits activity and contributes to membrane binding", The Journal of biological chemistry, 295, 12635-12647

Chang YG et al. (2022) "Structure of the metastatic factor P-Rex1 reveals a two-layered autoinhibitory mechanism", Nature structural & molecular biology, 29, 767-773

Autoinhibited structure

Activated structure

2 structures for Q70Z35

Entry ID	Method	Resolution	Chain	Position	Source
6BNM	X-ray	190 A	A	219-377	PDB
AF-Q70Z35-F1	Predicted				AlphaFoldDB

1843 variants for Q70Z35

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV002550168 rs769058397 RCV001373133	974	N>K	Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
CA4774423 RCV000656333 rs778089198	1119	A>T	Cerebral arteriovenous malformation [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002901672 COSM3395389 rs267601977	1374	R>W	Variant assessed as Somatic; MODERATE impact. pancreas Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs2129016133	2	S>G		No	Ensembl
rs1407470935	2	S>N		No	TOPMed gnomAD
rs371341697	3	E>*		No	ESP ExAC TOPMed gnomAD
rs371341697	3	E>K		No	ESP ExAC TOPMed gnomAD
TCGA novel	4	D>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1312079693	4	D>E		No	TOPMed gnomAD
rs1325700010	5	S>G		No	TOPMed gnomAD
rs1378488066	5	S>T		No	gnomAD
rs976251027 TCGA novel	6	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs976251027	6	R>G		No	Ensembl
COSM3699145 COSM3699146 rs867797514	6	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated gnomAD
rs867797514	6	R>L		No	gnomAD
rs530446044	8	D>E		No	1000Genomes ExAC TOPMed gnomAD
rs1410356226	8	D>N		No	gnomAD
rs1805375007	10	R>G		No	TOPMed
rs1418006656	10	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1805375198	11	A>T		No	Ensembl
COSM231627 rs773560075	12	E>*	skin [Cosmic]	No	cosmic curated ExAC gnomAD
rs773560075	12	E>K		No	ExAC gnomAD
rs773560075	12	E>Q		No	ExAC gnomAD
rs1408547915	13	S>N		No	Ensembl
rs1179246544	14	A>S		No	TOPMed gnomAD
COSM194835 rs1179246544	14	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA TOPMed gnomAD
rs1442864417	15	K>E		No	TOPMed gnomAD
rs1442864417	15	K>Q		No	TOPMed gnomAD
rs1805375927	15	K>R		No	TOPMed
rs1805376099	16	D>E		No	Ensembl
TCGA novel	16	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	16	D>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1369293773	19	K>E		No	gnomAD
rs1805376452	20	Q>E		No	gnomAD
rs2129016147	20	Q>L		No	Ensembl
rs2129016149	21	L>F		No	Ensembl
COSM1457962 COSM1457961	22	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1276509998	24	R>P		No	Ensembl
rs1194081470	24	R>S		No	TOPMed gnomAD
rs1466413704	25	V>G		No	gnomAD
rs1290202322	25	V>L		No	TOPMed gnomAD
rs1290202322	25	V>M		No	TOPMed gnomAD
rs774639303	27	V>L		No	ExAC TOPMed gnomAD
rs774639303	27	V>M		No	ExAC TOPMed gnomAD
rs1805377685	29	S>I		No	gnomAD
rs1805377685	29	S>N		No	gnomAD
rs759899362	29	S>R		No	ExAC TOPMed gnomAD
rs550215100	31	L>F		No	1000Genomes ExAC gnomAD
rs1340512570	31	L>H		No	gnomAD
rs550215100	31	L>I		No	1000Genomes ExAC gnomAD
rs1805378190	32	Q>P		No	Ensembl
rs61753697	33	K>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1805378394	33	K>R		No	TOPMed gnomAD
rs375306652 COSM1700176	36	R>Q	skin [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs1459888665	36	R>W		No	gnomAD
rs1372641862	37	D>Y		No	TOPMed
rs753717348	38	Y>C		No	ExAC gnomAD
rs753717348	38	Y>F		No	ExAC gnomAD
COSM3901173 COSM3901174	40	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs370145995	40	G>V		No	ESP ExAC TOPMed gnomAD
rs546875870	44	F>L		No	1000Genomes ExAC TOPMed gnomAD
rs750199325	45	L>P		No	ExAC gnomAD
TCGA novel	46	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	47	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM4717572 COSM4717573	47	S>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1807449484	48	A>V		No	gnomAD
rs1415422679	49	F>V		No	gnomAD
COSM268334 COSM268333	50	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1457963 COSM1457964	51	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs768947648	51	H>R		No	ExAC gnomAD
COSM1101254 COSM1101253	52	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs776388549	53	M>V		No	ExAC gnomAD
rs141781054	54	N>K		No	ESP TOPMed gnomAD
rs868724495	54	N>S		No	TOPMed
rs1467159242	55	Q>E		No	TOPMed gnomAD
rs146009571	56	C>Y		No	1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	58	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1101257 COSM1101258	60	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1807450572	61	V>A		No	Ensembl
rs372810309	61	V>I		No	ESP ExAC TOPMed gnomAD
rs139905707	63	K>R		No	1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	64	N>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1807450975	64	N>T		No	TOPMed
rs1807450884	64	N>Y		No	TOPMed
rs774177545	68	E>G		No	ExAC TOPMed gnomAD
rs1218222164	71	K>T		No	gnomAD
rs1807504303	72	M>T		No	Ensembl
rs2129610219	72	M>V		No	Ensembl
COSM1314166 COSM1314165	75	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1357812958	75	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1246102618	77	I>V		No	TOPMed
rs141717382	79	D>G		No	ESP ExAC TOPMed gnomAD
COSM6113540 COSM6113541	79	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1266168832	81	L>H		No	gnomAD
rs922179017	82	A>S		No	TOPMed gnomAD
rs922179017	82	A>T		No	TOPMed gnomAD
rs770397177	82	A>V		No	ExAC gnomAD
rs1807505677	83	V>L		No	Ensembl
rs759461290	86	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	86	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1195419758	88	L>*		No	gnomAD
rs1419107318	89	K>E		No	gnomAD
rs775211434	90	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs764373905	91	V>L		No	ExAC TOPMed gnomAD
rs764373905	91	V>M		No	ExAC TOPMed gnomAD
rs765407651 COSM1221951	92	E>K	large_intestine [Cosmic]	No	cosmic curated ExAC gnomAD
rs1332013502	94	C>Y		No	gnomAD
TCGA novel	95	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs750688375	96	H>N		No	ExAC TOPMed gnomAD
rs1807507446 COSM291172	96	H>Q	large_intestine [Cosmic]	No	cosmic curated TOPMed
COSM3650411 rs200600940 COSM3650410	98	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1807507748	99	P>T		No	Ensembl
rs1807507932	100	N>S		No	Ensembl
COSM750908 COSM750909	103	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1585710585	104	E>D		No	Ensembl
rs930625865	104	E>V		No	gnomAD
rs781765478	107	T>A		No	ExAC gnomAD
rs375046755	107	T>N		No	ESP TOPMed gnomAD
rs1585710602	108	C>Y		No	Ensembl
rs1451952974	109	F>Y		No	gnomAD
rs1563503124 COSM3901178 COSM3901177	110	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl NCI-TCGA
rs61753698	111	H>Q		No	gnomAD
rs2129610224	112	F>L		No	Ensembl
COSM3901180 COSM3901179	112	F>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs768475993	114	D>G		No	ExAC gnomAD
rs773476490 COSM3650414 COSM3650415	117	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM1755785 rs146218789	117	R>H	urinary_tract [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	118	I>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs766634926	118	I>V		No	ExAC gnomAD
RCV001249432 rs1807584458	119	Y>*		No	ClinVar Ensembl dbSNP
rs774226483	119	Y>C		No	ExAC gnomAD
rs1807584540	120	D>G		No	TOPMed
COSM4915196 COSM4915197	121	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1807584700	122	Y>C		No	Ensembl
TCGA novel	123	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1274346159	125	N>K		No	TOPMed gnomAD
rs759691869	125	N>S		No	ExAC gnomAD
rs1252838563	126	H>D		No	gnomAD
TCGA novel	127	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	127	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	130	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs753306339	131	K>T		No	ExAC gnomAD
rs1423317895	134	L>I		No	TOPMed gnomAD
COSM1101259 COSM1101260	135	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1807585972	136	L>F		No	TOPMed
rs996466594	136	L>H		No	TOPMed gnomAD
rs764621950	139	I>M		No	ExAC TOPMed gnomAD
COSM750906 COSM750907	139	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1029245562	140	R>G		No	TOPMed gnomAD
rs753517953	140	R>T		No	ExAC gnomAD
rs1423969985	141	T>A		No	TOPMed gnomAD
COSM334865 rs756804756	142	I>M	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1172689039	142	I>V		No	TOPMed
RCV000224976 rs745857499 COSM1101261 CA4773284	143	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1807586790	143	R>W		No	Ensembl
rs1807587112	144	T>K		No	TOPMed gnomAD
COSM750904 COSM750905	147	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1458932100	148	N>K		No	gnomAD
rs781218965	148	N>T		No	ExAC gnomAD
rs1200199784	149	C>F		No	TOPMed gnomAD
rs1200199784	149	C>S		No	TOPMed gnomAD
rs1483423576	150	M>L		No	TOPMed gnomAD
rs1807747928	150	M>T		No	Ensembl
COSM3925495 COSM3925494	153	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1455153462	153	G>R		No	gnomAD
TCGA novel	154	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs778971988 COSM304801 COSM304800	155	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs139157434 COSM454780 COSM454781	155	R>W	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs772266269	156	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1807749519	158	T>I		No	gnomAD
rs775655132	159	D>A		No	ExAC
rs1388302622	159	D>H		No	TOPMed gnomAD
rs1388302622	159	D>N		No	TOPMed gnomAD
rs867261833	160	V>A		No	Ensembl
rs2129610407	160	V>F		No	Ensembl
rs1303990934	161	P>S		No	gnomAD
COSM6113538 COSM6113539	162	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs769006967	162	L>S		No	ExAC gnomAD
rs1309816810	164	G>E		No	TOPMed gnomAD
rs777220819	164	G>R		No	ExAC TOPMed gnomAD
rs996307379	165	Y>C		No	Ensembl
rs762048772	165	Y>H		No	ExAC TOPMed gnomAD
rs765695309	166	L>*		No	ExAC gnomAD
rs1395821618 COSM258799 COSM258798	166	L>F	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1807752271 COSM1221947	167	V>A	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs750075942	167	V>I		No	ExAC TOPMed gnomAD
COSM3650420 COSM3650421	168	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs762528757	168	T>I		No	ExAC TOPMed gnomAD
rs754515566	170	I>M		No	ExAC gnomAD
rs1807752891	170	I>T		No	TOPMed gnomAD
rs780962172	171	Q>H		No	ExAC gnomAD
rs1176181832	171	Q>R		No	gnomAD
COSM1101263 COSM1101264	172	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs149879584	173	I>M		No	ESP
COSM750901 COSM750900	173	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs752729248	174	C>*		No	ExAC
rs1807753656	174	C>R		No	TOPMed
rs752729248	174	C>W		No	ExAC
rs1419345798	175	K>E		No	gnomAD
TCGA novel	175	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1160822115	175	K>R		No	gnomAD
rs1366509436	176	Y>C		No	gnomAD
COSM2873993 COSM21847	176	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1366509436	176	Y>S		No	gnomAD
rs1563507109	177	P>L		No	TOPMed
rs1286023672	182	E>*		No	gnomAD
rs1490124443	184	L>R		No	TOPMed
rs781270008	186	R>P		No	ExAC TOPMed gnomAD
rs781270008	186	R>Q		No	ExAC TOPMed gnomAD
rs755013538	186	R>W		No	ExAC TOPMed gnomAD
TCGA novel	188	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs569463208	189	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes NCI-TCGA gnomAD
COSM3901186 COSM3901185 rs770289181	189	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1807851952	191	H>R		No	TOPMed
rs373464545	192	S>N		No	ESP TOPMed gnomAD
rs773741156	193	D>E		No	ExAC TOPMed gnomAD
rs1585720355	198	M>R		No	Ensembl
rs1807852541	199	E>G		No	TOPMed
rs749622449	200	A>P		No	ExAC gnomAD
rs1585720377	201	L>P		No	Ensembl
rs78461652	202	Q>*		No	ExAC gnomAD
rs78461652	202	Q>K		No	ExAC gnomAD
rs1367327463	204	M>T		No	TOPMed gnomAD
rs773980090	204	M>V		No	ExAC gnomAD
rs1807853299	206	A>T		No	Ensembl
rs1420098828	207	V>I		No	gnomAD
rs759299653	208	C>S		No	ExAC gnomAD
rs1807853613	208	C>W		No	Ensembl
rs1807853705	209	S>Y		No	Ensembl
rs1174107286	210	N>D		No	TOPMed gnomAD
rs1807854084	210	N>K		No	Ensembl
rs116549212	210	N>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1174107286	210	N>Y		No	TOPMed gnomAD
rs760123806	211	I>T		No	ExAC gnomAD
rs775005743	211	I>V		No	ExAC gnomAD
rs753863699 COSM229754 COSM229755	213	E>K	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1051281432	214	A>T		No	Ensembl
COSM1457965 COSM1457966	216	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs751905686	216	R>K		No	TOPMed gnomAD
rs1217941004	217	Q>E		No	gnomAD
rs1275972126	217	Q>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
TCGA novel	219	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs765178038	220	K>M		No	ExAC TOPMed gnomAD
rs757092256	220	K>Q		No	ExAC gnomAD
rs765178038	220	K>R		No	ExAC TOPMed gnomAD
rs142449465	221	L>F		No	ESP ExAC gnomAD
COSM1101266 COSM1101265	222	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2129610506	224	L>F		No	Ensembl
rs1807855694	225	E>D		No	TOPMed
rs1214753466	225	E>K		No	gnomAD
COSM3650423 COSM3650422	226	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1242464715	227	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs748221219	228	Q>*		No	ExAC gnomAD
rs748221219	228	Q>E		No	ExAC gnomAD
TCGA novel	230	H>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs147937702	230	H>Y		No	ESP ExAC TOPMed gnomAD
rs1454714208	231	I>L		No	gnomAD
rs375853715	231	I>T		No	ESP ExAC TOPMed gnomAD
TCGA novel	232	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1358803402	233	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1358803402	233	G>V		No	gnomAD
rs867075442	234	W>*		No	TOPMed
rs2129610507	235	E>*		No	Ensembl
rs1425571538	235	E>G		No	TOPMed gnomAD
rs753919180	238	N>D		No	ExAC gnomAD
rs1808090147	238	N>K		No	TOPMed
rs145510081	238	N>S		No	ESP TOPMed gnomAD
rs757702693	240	T>I		No	ExAC
rs779309563	242	T>A		No	ExAC TOPMed gnomAD
rs746201622	242	T>N		No	ExAC TOPMed gnomAD
rs779309563	242	T>S		No	ExAC TOPMed gnomAD
rs746201622	242	T>S		No	ExAC TOPMed gnomAD
rs779731432	244	T>I		No	ExAC gnomAD
rs375289741	244	T>P		No	ESP ExAC TOPMed gnomAD
rs1563512476	246	M>I		No	Ensembl
rs746695075	247	L>I		No	ExAC gnomAD
rs367912806	247	L>Q		No	ESP TOPMed
rs1437254583	248	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1236492920	248	M>T		No	TOPMed gnomAD
rs776227872	249	C>Y		No	ExAC gnomAD
rs2129610717	250	G>V		No	Ensembl
rs1808091791	251	V>G		No	TOPMed
rs1233335178	252	L>V		No	gnomAD
rs1411771570	254	K>R		No	TOPMed gnomAD
rs1343677932	255	I>V		No	Ensembl
COSM4894450 COSM4894451	256	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1808092555	257	S>A		No	gnomAD
COSM3925497 COSM3925496	257	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM268442 COSM268441	258	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1101267 COSM1101268	258	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1303088109	259	N>S		No	TOPMed gnomAD
rs1808093007	260	I>V		No	TOPMed
rs1164719450	261	Q>E		No	gnomAD
COSM2874009 COSM2874008	262	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1808093229	262	E>G		No	TOPMed
rs2129610719	262	E>K		No	Ensembl
COSM3432520 rs1406399796	263	R>Q	large_intestine [Cosmic]	No	cosmic curated TOPMed
rs371711855	263	R>W		No	ESP ExAC TOPMed gnomAD
rs1463542246	264	V>M		No	gnomAD
TCGA novel	265	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM108981 COSM3650426 rs138740482	267	L>F	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
COSM1457967 COSM1457968	267	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs766147306	268	F>S		No	ExAC gnomAD
rs760821149 COSM1101270 COSM1101269	269	D>N	Variant assessed as Somatic; MODERATE impact. urinary_tract endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs764313183	270	N>K		No	ExAC gnomAD
rs1808094342	270	N>T		No	TOPMed
COSM1101271 COSM1101272	271	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1445311645	272	L>V		No	TOPMed gnomAD
rs967932513	273	V>L		No	TOPMed gnomAD
rs967932513	273	V>M		No	TOPMed gnomAD
rs753865918	274	Y>C		No	ExAC TOPMed gnomAD
TCGA novel	275	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1235073267	275	C>S		No	gnomAD
rs2129610722	275	C>Y		No	Ensembl
rs779442697	276	K>E		No	ExAC TOPMed gnomAD
COSM1132708 COSM1132707	276	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs758772318	280	R>G		No	ExAC gnomAD
rs372931548	281	R>L		No	ESP ExAC TOPMed gnomAD
rs372931548 COSM5079490 COSM5079489	281	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
COSM5682245 rs750933833 COSM5682246	281	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs780972276	283	K>N		No	ExAC
rs1353393989	283	K>R		No	gnomAD
COSM3901187 rs1214968217 COSM3901188	285	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1429693114	287	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1808287918	288	S>C		No	TOPMed
rs1195937492	289	T>A		No	gnomAD
rs1374306475	290	D>E		No	TOPMed gnomAD
rs1355365752	290	D>N		No	TOPMed
rs755646976	292	H>L		No	ExAC TOPMed gnomAD
rs755646976 COSM3663852	292	H>R	liver [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs745582647	293	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs777080876	293	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs374334623	295	L>F		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1446044291	296	F>S		No	TOPMed
rs774302685 COSM1673950 COSM1673951	297	R>C	Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM218959 rs199819614	297	R>H	pancreas [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs199819614	297	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs1808290124	298	G>C		No	Ensembl
rs746227590 COSM2874021 COSM2874020	299	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
COSM3699150 rs771902674 COSM3699149	299	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1320143244	300	I>T		No	TOPMed gnomAD
rs1013175951	301	N>D		No	Ensembl
rs1808291100	301	N>K		No	TOPMed
rs934598745	302	T>M		No	TOPMed
rs765498262	303	E>G		No	ExAC TOPMed gnomAD
COSM750894 COSM750895	304	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1350370469	305	M>T		No	gnomAD
rs1808291961	306	E>Q		No	gnomAD
rs1808292101	307	V>M		No	TOPMed
rs763128956	309	N>K		No	ExAC TOPMed gnomAD
rs1207413489	311	D>G		No	gnomAD
rs1207413489	311	D>V		No	gnomAD
rs1808292727	311	D>Y		No	TOPMed
rs11784582 VAR_032163	312	D>N		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs184081186	315	A>S		No	1000Genomes ExAC TOPMed gnomAD
rs184081186	315	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs768151750	316	D>G		No	ExAC TOPMed gnomAD
rs753063312	317	F>L		No	ExAC gnomAD
rs1005680756	318	H>P		No	TOPMed gnomAD
rs1005680756	318	H>R		No	TOPMed gnomAD
rs1410340621	319	S>N		No	TOPMed gnomAD
rs1297841416	321	G>E		No	gnomAD
rs1808569512	321	G>R		No	Ensembl
TCGA novel	322	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs753574278	323	I>T		No	ExAC gnomAD
rs374995344	323	I>V		No	ESP ExAC TOPMed gnomAD
rs756706936	324	V>A		No	ExAC gnomAD
rs1355210676	326	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1270240284 COSM3650434 COSM3650433	328	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed gnomAD
rs1585740698	329	K>E		No	Ensembl
rs1275528365	330	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs973114861	331	H>R		No	Ensembl
rs749938352	331	H>Y		No	ExAC gnomAD
rs1201767258	332	N>D		No	gnomAD
rs758270726	334	A>P		No	ExAC gnomAD
COSM3901196 COSM3901195	334	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1808571112	335	K>N		No	TOPMed
rs1480791221	335	K>R		No	TOPMed gnomAD
TCGA novel	336	N>I	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1035055535	336	N>S		No	gnomAD
rs746754337	338	W>*		No	ExAC
rs1808571489	340	V>I		No	TOPMed
rs768546853	341	C>R		No	ExAC TOPMed gnomAD
rs200431659	342	M>L		No	TOPMed gnomAD
rs200431659	342	M>V		No	TOPMed gnomAD
rs1419877039	343	A>T		No	gnomAD
rs1408117496	343	A>V		No	TOPMed gnomAD
rs777847032	345	T>S		No	ExAC TOPMed gnomAD
TCGA novel	346	P>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs771284983	346	P>S		No	ExAC gnomAD
COSM3650435 COSM3650436	347	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3901198 COSM3901197	349	K>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1808572565	349	K>N		No	gnomAD
COSM4924170 COSM4924171	350	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1375231224	350	H>R		No	gnomAD
rs1295681283	352	W>C		No	gnomAD
COSM1101273	353	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	354	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs759711911	355	A>G		No	ExAC gnomAD
rs1294300664	357	L>W		No	gnomAD
rs979280485	358	K>I		No	TOPMed
rs1206854674	359	E>*		No	TOPMed gnomAD
TCGA novel	359	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1206854674	359	E>K		No	TOPMed gnomAD
rs1277698811	361	E>G		No	gnomAD
rs150203239	362	R>Q		No	ESP ExAC TOPMed gnomAD
COSM1457971 COSM1457972 rs200682883	362	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine prostate [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM454783 rs751712561 COSM454782	363	R>Q	lung Variant assessed as Somatic; MODERATE impact. breast [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs760923944 COSM1673952	363	R>W	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1347185205	364	K>*		No	TOPMed gnomAD
rs1347185205	364	K>E		No	TOPMed gnomAD
rs753425478	365	G>C		No	ExAC gnomAD
rs764216584	368	L>V		No	ExAC TOPMed gnomAD
TCGA novel	369	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs567279949 COSM4401156 COSM4401155	369	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD
COSM3901200 COSM3901199	372	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1563521110	372	Q>P		No	Ensembl
TCGA novel	373	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1808662275	374	T>I		No	TOPMed gnomAD
rs1808662275	374	T>S		No	TOPMed gnomAD
COSM750893 rs1368451095 COSM750892	375	W>C	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed
TCGA novel	376	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1441197477	376	V>I		No	gnomAD
rs1808662753	377	M>T		No	gnomAD
COSM750891 COSM750890 rs1348317702	377	M>V	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1222948221	379	S>F		No	gnomAD
rs754147525	382	G>C		No	ExAC TOPMed gnomAD
rs977585815 COSM1700184	382	G>D	skin [Cosmic]	No	cosmic curated Ensembl
rs754147525	382	G>S		No	ExAC TOPMed gnomAD
rs977585815	382	G>V		No	Ensembl
rs1808663422	383	E>*		No	Ensembl
rs1808663728	386	Y>*		No	TOPMed
rs767379606	386	Y>D		No	ExAC gnomAD
rs1808663835	386	Y>F		No	TOPMed
rs767379606	386	Y>H		No	ExAC gnomAD
TCGA novel	388	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1169735083	389	M>V		No	TOPMed
rs923750543	390	C>F		No	TOPMed gnomAD
rs1808664124	390	C>G		No	TOPMed gnomAD
rs1368426726	390	C>W		No	TOPMed gnomAD
rs1231342400	392	Q>E		No	gnomAD
COSM6113532 COSM6113533	395	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1808664677	396	I>V		No	TOPMed
TCGA novel	398	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1178179548	398	D>H		No	TOPMed gnomAD
rs1178179548	398	D>N		No	TOPMed gnomAD
rs1434774	399	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1054156818 COSM1700186	399	R>Q	skin [Cosmic]	No	cosmic curated TOPMed gnomAD
rs1434775	400	K>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1808665733	401	R>K		No	gnomAD
rs746149690	402	K>R		No	ExAC gnomAD
rs1393105238	403	L>R		No	TOPMed gnomAD
rs1808665991	404	T>A		No	gnomAD
rs1461474021	404	T>I		No	gnomAD
rs758547657	405	T>A		No	ExAC TOPMed gnomAD
rs201801050	405	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs758547657	405	T>S		No	ExAC TOPMed gnomAD
rs769155626	407	P>A		No	ExAC TOPMed gnomAD
rs769155626	407	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1808666619	408	K>E		No	Ensembl
rs1231380663	409	C>F		No	gnomAD
rs1808666787	412	G>A		No	Ensembl
COSM231637 COSM231638	413	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM276889 COSM276888 rs201372935	414	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1317390372	415	F>I		No	gnomAD
COSM5079492 COSM5079491	415	F>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1808823554	416	V>M		No	gnomAD
rs895041323	417	S>L		No	TOPMed gnomAD
rs1168859185	417	S>T		No	gnomAD
rs759063776	418	W>*		No	ExAC gnomAD
rs760622002	420	L>V		No	ExAC gnomAD
rs1585747929	421	E>G		No	Ensembl
rs764135902	421	E>Q		No	ExAC gnomAD
rs761058511	422	I>M		No	TOPMed gnomAD
rs868064033	422	I>T		No	TOPMed
rs902315304	423	G>R		No	TOPMed
TCGA novel	424	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1325962136	425	I>F		No	gnomAD
rs1228185704	425	I>T		No	gnomAD
COSM1221949 rs753633279	427	R>G	large_intestine [Cosmic]	No	cosmic curated ExAC gnomAD
rs141759315	427	R>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1808825471	428	P>S		No	TOPMed
COSM108026 rs142510968	430	E>K	skin [Cosmic]	No	cosmic curated Ensembl
rs1585748001	432	V>G		No	Ensembl
rs751789846	432	V>L		No	ExAC TOPMed gnomAD
COSM85124 rs751789846	432	V>M	pancreas [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs781186670	433	H>R		No	ExAC gnomAD
rs1808826075	433	H>Y		No	gnomAD
rs993179244	435	G>V		No	TOPMed
COSM1101276 COSM1101275	436	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1808826556	436	Q>L		No	TOPMed
rs1244600028	437	A>G		No	TOPMed
rs1220264944	439	L>S		No	TOPMed gnomAD
TCGA novel	441	N>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1808827037	441	N>Y		No	TOPMed gnomAD
rs1261578482	442	G>E		No	TOPMed gnomAD
COSM3901202 COSM3901201	442	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs112639643	443	I>T		No	Ensembl
rs1290394880	445	H>R		No	TOPMed gnomAD
rs1188683432	446	H>R		No	TOPMed gnomAD
rs367828345	452	Q>H		No	ESP ExAC TOPMed gnomAD
rs757634747	453	F>L		No	ExAC gnomAD
rs746256737	454	K>N		No	ExAC TOPMed gnomAD
rs147230329	454	K>T		No	1000Genomes ExAC TOPMed gnomAD
rs746483385	456	E>D		No	ExAC gnomAD
TCGA novel	457	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs768327459	458	M>I		No	ExAC TOPMed gnomAD
rs1809109199	458	M>L		No	TOPMed gnomAD
rs1310956602	458	M>T		No	gnomAD
rs375537675	459	L>F		No	ESP TOPMed
rs752758195	460	Y>C		No	ExAC gnomAD
rs776708753	460	Y>H		No	ExAC gnomAD
rs1585755783	461	R>I		No	TOPMed
COSM3650444 COSM3650443	461	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM422074 COSM422073	461	R>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM231641 rs866864487 COSM231642	463	R>C	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs756231722	463	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1809110742	466	D>G		No	gnomAD
rs1809110925 COSM3650446 COSM3650445	467	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs762839120	470	Y>C		No	ExAC TOPMed gnomAD
rs368570319	471	P>A		No	ESP ExAC TOPMed gnomAD
COSM1101277 COSM1101278	472	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1809111489	473	N>K		No	gnomAD
rs1249577384	473	N>Y		No	gnomAD
COSM5874917 COSM5874916	474	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs764224860	477	D>N		No	ExAC TOPMed gnomAD
rs1474820456	478	V>L		No	TOPMed gnomAD
rs1474820456	478	V>M		No	TOPMed gnomAD
rs1186603196	481	K>N		No	Ensembl
rs1381541350	482	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1385612700	482	G>V		No	Ensembl
rs866381944	484	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs141678446	484	R>S		No	ESP TOPMed gnomAD
rs1809143167	485	L>S		No	Ensembl
rs1809143304	486	Y>H		No	gnomAD
COSM3901204 COSM3901203	487	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM454784 rs754632853	488	R>C	breast [Cosmic]	No	cosmic curated ExAC gnomAD
rs376775544 COSM4996969 COSM4996968	488	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs1296181442	489	L>P		No	gnomAD
rs374391319	490	H>Q		No	ESP ExAC TOPMed gnomAD
rs1809144445	491	S>R		No	Ensembl
rs555725224	492	L>F		No	1000Genomes ExAC
rs1809144715	494	T>P		No	TOPMed
rs749291755	497	I>L		No	ExAC TOPMed gnomAD
rs749291755	497	I>V		No	ExAC TOPMed gnomAD
COSM2874061 COSM85125	498	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3650447 COSM3650448	499	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM276890 COSM276891	499	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1809227836	500	K>*		No	TOPMed
rs951212628	501	D>Y		No	Ensembl
rs1456527690	502	Y>D		No	TOPMed gnomAD
COSM3650450 COSM3650449 rs150518974	503	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs1160484645	504	L>F		No	gnomAD
rs2129611669	505	R>K		No	Ensembl
rs2129611670	506	T>I		No	Ensembl
rs1809228362	507	Y>H		No	Ensembl
COSM3650451 COSM3650452	509	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs778852915	509	S>T		No	ExAC gnomAD
rs1809228675	511	V>I		No	Ensembl
rs1323273757	513	A>T		No	gnomAD
TCGA novel	514	N>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1436732188	517	I>T		No	gnomAD
rs1273158960	519	W>*		No	gnomAD
rs1809229311	520	L>I		No	Ensembl
rs1370821940	521	I>T		No	TOPMed gnomAD
rs1476047035	521	I>V		No	TOPMed gnomAD
rs748017182	522	A>S		No	ExAC TOPMed gnomAD
rs748017182	522	A>T		No	ExAC TOPMed gnomAD
COSM750885 COSM750884	523	Q>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3650456 COSM3650455 rs866647316	524	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl NCI-TCGA
rs1357075499	524	G>R		No	gnomAD
rs1809383352	526	C>R		No	gnomAD
rs199776134	527	R>C		No	1000Genomes ExAC TOPMed gnomAD
COSM3413095 rs767992923 COSM3413094	527	R>H	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4773673 COSM1457975 COSM1457976 RCV000224983 rs199776134	527	R>S	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs529031047	528	T>A		No	1000Genomes ExAC TOPMed gnomAD
rs1809383758	530	E>G		No	Ensembl
rs2129611807	531	E>D		No	Ensembl
rs760315089	532	A>E		No	ExAC gnomAD
rs760315089	532	A>G		No	ExAC gnomAD
COSM3650457 COSM3650458	533	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3901206 rs1809384029 COSM3901205	533	M>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1254402334	533	M>L		No	gnomAD
rs1485015242	535	F>C		No	gnomAD
COSM1457978 rs757775649	537	V>A	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
COSM32830 RCV000956640 VAR_035973 rs147538692	537	V>I	large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt]	No	cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1809384500	539	L>F		No	TOPMed gnomAD
rs1164665499	541	D>A		No	TOPMed gnomAD
rs1164665499	541	D>V		No	TOPMed gnomAD
rs756801083	542	N>D		No	ExAC gnomAD
rs1809384813	542	N>S		No	Ensembl
rs1428676809	543	G>R		No	gnomAD
rs1235901571	546	H>Q		No	Ensembl
rs765133565	547	H>D		No	ExAC gnomAD
rs1809385439	547	H>R		No	Ensembl
rs1563533945	548	V>G		No	gnomAD
COSM3650462 COSM3650461	549	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1347814436 COSM292802 COSM292801	552	S>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1265715890	552	S>N		No	gnomAD
rs1203838406	552	S>R		No	gnomAD
rs140138908	552	S>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs529924687	553	E>*		No	1000Genomes ExAC TOPMed gnomAD
rs1249553687	553	E>G		No	TOPMed gnomAD
rs529924687 COSM1101283 COSM1101284	553	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs778502021	554	F>I		No	ExAC TOPMed gnomAD
rs1809481755	555	K>E		No	gnomAD
rs1809481921	556	D>G		No	Ensembl
rs1197977797	556	D>H		No	gnomAD
rs1478970691	557	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs199541834	558	P>A		No	ESP ExAC TOPMed gnomAD
rs2129611897	558	P>L		No	Ensembl
rs199541834	558	P>S		No	ESP ExAC TOPMed gnomAD
rs778128731	562	R>C		No	ExAC TOPMed gnomAD
rs182978151	562	R>H		No	1000Genomes ExAC TOPMed gnomAD
COSM3650464 COSM3650463	562	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1809483677	563	F>L		No	Ensembl
TCGA novel	563	F>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel rs764112302	565	S>F	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM233172 COSM233173 rs779079528	565	S>L	Variant assessed as Somatic; MODERATE impact. oesophagus skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1265509346	565	S>P		No	gnomAD
COSM1457982 rs764112302 COSM1457983	565	S>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1247482872	566	D>E		No	TOPMed gnomAD
rs1463963360	566	D>G		No	Ensembl
COSM3901207 COSM3901208	566	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1463963360	566	D>V		No	Ensembl
rs1333135513	568	E>A		No	gnomAD
rs200411060	568	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA gnomAD
rs1330390211	570	E>D		No	TOPMed gnomAD
rs775897892	570	E>G		No	ExAC TOPMed gnomAD
rs1208865063	571	G>*		No	TOPMed gnomAD
COSM3650466 COSM3650465	571	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1208865063	571	G>R		No	TOPMed gnomAD
rs747373237	572	S>L		No	ExAC TOPMed gnomAD
rs946727115	573	N>H		No	TOPMed
rs1585767577	574	M>V		No	Ensembl
rs1208801965	575	K>R		No	gnomAD
COSM2874083 COSM2874082 rs769067107	577	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs769067107	577	R>G		No	ExAC TOPMed gnomAD
rs900217349 COSM1221957	577	R>Q	large_intestine skin [Cosmic]	No	cosmic curated Ensembl
rs1465147644	578	L>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs764881119	579	M>K		No	ExAC TOPMed gnomAD
rs764881119	579	M>T		No	ExAC TOPMed gnomAD
rs1472863482	581	H>R		No	TOPMed gnomAD
rs1161530101	582	D>N		No	TOPMed gnomAD
rs1357030180	587	E>G		No	TOPMed gnomAD
rs762412340	589	V>D		No	ExAC gnomAD
rs1210380079	590	I>M		No	TOPMed gnomAD
rs1457609400	591	A>T		No	gnomAD
rs1809488723	592	K>E		No	TOPMed
rs766318273	592	K>N		No	ExAC TOPMed gnomAD
rs1809488977	593	S>L		No	TOPMed
rs1414727260	593	S>T		No	TOPMed
rs1408432114	594	L>*		No	gnomAD
rs1408432114	594	L>S		No	gnomAD
TCGA novel	595	L>F	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1351711728	595	L>F		No	gnomAD
rs1307786259	595	L>M		No	1000Genomes gnomAD
rs190257832	598	S>P		No	1000Genomes ExAC
TCGA novel	598	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1809495124	599	N>I		No	TOPMed gnomAD
rs1809495246	599	N>K		No	Ensembl
rs1809495124	599	N>S		No	TOPMed gnomAD
TCGA novel	600	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM6039137 COSM6039138 rs2129611902	602	S>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1474292013	602	S>N		No	gnomAD
rs140494334	603	Y>C		No	1000Genomes ExAC TOPMed gnomAD
rs145604975	603	Y>H		No	ESP ExAC gnomAD
rs1389694023	606	G>V		No	gnomAD
rs1809496759	610	K>R		No	Ensembl
rs1809496838	612	K>E		No	gnomAD
rs1319920618	613	V>I		No	TOPMed gnomAD
rs866440780	614	P>T		No	Ensembl
rs980668345	616	I>M		No	TOPMed
rs1809497191	617	K>Q		No	gnomAD
rs760583258	618	L>F		No	ExAC gnomAD
rs200064497	621	K>R		No	1000Genomes gnomAD
COSM4532213 COSM4532214	622	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs758499915	623	S>P		No	ExAC gnomAD
rs1809497842	624	N>D		No	TOPMed
rs779930208	625	A>V		No	ExAC gnomAD
rs1258348839	626	E>K		No	TOPMed gnomAD
rs2129611980	627	M>I		No	Ensembl
rs569614436	627	M>L		No	1000Genomes ExAC TOPMed gnomAD
rs569614436	627	M>V		No	1000Genomes ExAC TOPMed gnomAD
rs1809585173	630	M>L		No	TOPMed
rs1809585173	630	M>V		No	TOPMed
rs2129611981	632	V>I		No	Ensembl
rs1809585532	633	G>A		No	Ensembl
rs777945461	633	G>R		No	ExAC TOPMed gnomAD
rs777945461	633	G>W		No	ExAC TOPMed gnomAD
COSM85126 rs749689010	634	K>E	pancreas [Cosmic]	No	cosmic curated ExAC gnomAD
COSM1221960 COSM1221959 rs1326956245	635	K>N	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
TCGA novel	636	I>D	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM3996110 COSM3996111	636	I>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	637	F>I	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1260210946	637	F>L		No	TOPMed
TCGA novel	638	A>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs756823008	638	A>V		No	ExAC gnomAD
rs1187332971	639	I>V		No	gnomAD
rs1412894490	641	G>R		No	gnomAD
rs2129611983	642	D>E		No	Ensembl
TCGA novel	642	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1809586247	642	D>N		No	TOPMed
rs1268836069	642	D>V		No	gnomAD
rs1473693228	645	F>L		No	gnomAD
rs1355367285	646	M>L		No	TOPMed
TCGA novel	647	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1219558321	647	R>T		No	gnomAD
rs2129611984	648	P>L		No	Ensembl
rs199889793	649	F>V		No	gnomAD
rs745346220	650	N>S		No	ExAC TOPMed gnomAD
rs1809587267	652	V>G		No	TOPMed
COSM1101289	652	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs771763123	653	D>N		No	ExAC gnomAD
rs1246823934	655	F>L		No	TOPMed gnomAD
rs1157862775	656	L>P		No	gnomAD
COSM3650470 COSM3650469 rs775560862	658	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs2129611988	661	N>K		No	Ensembl
rs1585770873	662	S>G		No	Ensembl
rs2129611989	662	S>N		No	Ensembl
rs142318923	666	L>R		No	ESP ExAC TOPMed gnomAD
rs1809588301	667	R>T		No	Ensembl
COSM3650471 COSM3650472	668	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1809588557 COSM4395639 COSM4395640	669	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic gnomAD
rs924599316	670	V>M		No	TOPMed
rs1348619776	672	T>A		No	gnomAD
rs2129611992 COSM403008	674	P>Q	lung [Cosmic]	No	cosmic curated Ensembl
rs2129611991	674	P>T		No	Ensembl
rs761696818 COSM4832661 COSM4832660	675	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1352854335 COSM3925505 COSM3925504	676	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed gnomAD
COSM1457992 rs1352854335 COSM1457993	676	E>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs765627262	677	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1428817699	677	T>P		No	gnomAD
rs141504768	678	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1809739478	679	K>N		No	Ensembl
COSM3650474 COSM3650473	681	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1170655430	685	D>V		No	TOPMed
COSM3901213 COSM3901214	686	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	689	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs754576257	692	R>P		No	ExAC TOPMed gnomAD
rs754576257 COSM454787 COSM454786	692	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs561299451	692	R>W		No	ExAC TOPMed gnomAD
TCGA novel	693	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs868463537	693	G>R		No	Ensembl
rs748051396	695	G>D		No	ExAC TOPMed gnomAD
COSM3650476 COSM3650475	696	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1048744323	697	S>F		No	TOPMed
rs1563538184	697	S>P		No	Ensembl
rs1809742668	698	V>D		No	Ensembl
rs1483066178	699	V>M		No	TOPMed gnomAD
TCGA novel	700	H>M	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	700	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs777498811	702	V>I		No	ExAC gnomAD
COSM4534733 COSM4534734 rs1213028913	705	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs964879911	706	T>I		No	TOPMed
rs61738008	706	T>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1809840298	707	V>A		No	Ensembl
COSM1132706 COSM1132705	708	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1408468875	709	A>G		No	gnomAD
rs962505121	710	A>G		No	Ensembl
TCGA novel	710	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs775153592	711	A>D		No	TOPMed gnomAD
rs1285932271	711	A>T		No	gnomAD
rs775153592 COSM3650478 COSM3650477	711	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
TCGA novel	713	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1661864044	714	H>Y		No	TOPMed gnomAD
rs773903053	719	I>V		No	ExAC gnomAD
rs760177073	720	I>F		No	TOPMed gnomAD
rs760177073	720	I>V		No	TOPMed gnomAD
rs766784798	721	K>E		No	ExAC gnomAD
TCGA novel	721	K>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1585779155	722	V>G		No	Ensembl
rs767109889	723	N>D		No	ExAC TOPMed gnomAD
COSM3650479 COSM3650480	723	N>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs867044170	724	G>R		No	gnomAD
rs1457593060	726	N>S		No	TOPMed gnomAD
rs755672906	726	N>Y		No	ExAC gnomAD
COSM194855 rs764008133	727	V>I	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ExAC NCI-TCGA gnomAD
rs1809842545	728	S>C		No	TOPMed
COSM3901217 COSM3901218	729	K>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1809842709	729	K>E		No	Ensembl
COSM3925512 COSM3925513	730	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs369802561	733	A>D		No	ESP ExAC gnomAD
rs369802561	733	A>V		No	ESP ExAC gnomAD
rs778708697	736	I>T		No	ExAC gnomAD
rs1374652615	736	I>V		No	gnomAD
rs1338403191	738	H>D		No	gnomAD
rs1393555535	739	V>I		No	TOPMed
rs1809843734	740	T>A		No	TOPMed
rs1361270554	740	T>I		No	TOPMed gnomAD
rs1480903947	741	A>G		No	gnomAD
rs1273873699	741	A>T		No	gnomAD
rs1480903947	741	A>V		No	gnomAD
rs1254092170	742	C>F		No	gnomAD
rs1275313360	744	K>T		No	gnomAD
rs1809844615	746	R>K		No	Ensembl
rs140403199	746	R>S		No	ESP ExAC TOPMed gnomAD
rs773432628	747	R>G		No	ExAC TOPMed gnomAD
rs1809844879	747	R>Q		No	Ensembl
rs773432628	747	R>W		No	ExAC TOPMed gnomAD
rs1809845063	748	P>R		No	TOPMed
rs1485236786	749	T>A		No	TOPMed gnomAD
rs146486437	749	T>M		No	1000Genomes ExAC TOPMed gnomAD
COSM750872 COSM750873	750	K>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1216292455	751	Q>E		No	gnomAD
rs1216292455	751	Q>K		No	gnomAD
TCGA novel	752	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	752	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs760261110	752	D>H		No	ExAC gnomAD
rs760261110	752	D>N		No	ExAC gnomAD
rs768316437	752	D>V		No	ExAC gnomAD
rs760261110	752	D>Y		No	ExAC gnomAD
rs2129612323	753	S>C		No	Ensembl
rs1809961189	754	I>L		No	TOPMed
rs1809961291	754	I>M		No	Ensembl
rs1809961189	754	I>V		No	TOPMed
rs1318929739	755	Q>L		No	TOPMed
rs1318929739	755	Q>R		No	TOPMed
rs2129612327	756	W>*		No	Ensembl
rs2129612327	756	W>C		No	Ensembl
rs2129612325	756	W>L		No	Ensembl
rs2129612325	756	W>S		No	Ensembl
rs2129612329	757	V>D		No	Ensembl
rs2129612329	757	V>G		No	Ensembl
rs776078625	757	V>I		No	ExAC gnomAD
rs2129612330	758	Y>C		No	Ensembl
rs2129612330	758	Y>F		No	Ensembl
rs2129612331	759	N>I		No	Ensembl
rs944400207	759	N>K		No	TOPMed gnomAD
rs1215258686	760	S>I		No	gnomAD
rs1215258686	760	S>N		No	gnomAD
COSM3929617 COSM3929616 rs2129612332	760	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1215258686	760	S>T		No	gnomAD
rs761269798	761	I>M		No	ExAC TOPMed gnomAD
rs2129612333	761	I>N		No	Ensembl
rs765196194	762	E>A		No	ExAC gnomAD
rs2129612334	762	E>D		No	Ensembl
rs1809961870	762	E>K		No	Ensembl
rs765196194	762	E>V		No	ExAC gnomAD
rs1809962054	763	S>N		No	gnomAD
rs375846828	763	S>R		No	ESP ExAC gnomAD
rs1809962054	763	S>T		No	gnomAD
rs2129612336	764	A>G		No	Ensembl
rs2129612335	764	A>P		No	Ensembl
rs2129612335	764	A>T		No	Ensembl
rs2129612336	764	A>V		No	Ensembl
rs1809962241	765	Q>*		No	TOPMed
rs1809962241	765	Q>E		No	TOPMed
rs1809962241	765	Q>K		No	TOPMed
rs879245533	765	Q>L		No	Ensembl
rs879245533	765	Q>P		No	Ensembl
rs2129612339	766	E>K		No	Ensembl
rs2129612339	766	E>Q		No	Ensembl
rs1809962436	767	D>E		No	Ensembl
rs2129612340	767	D>H		No	Ensembl
rs2129612341	767	D>V		No	Ensembl
rs2129612340	767	D>Y		No	Ensembl
COSM3779321 COSM3779320 rs2129612343	768	L>F	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2129612344	768	L>H		No	Ensembl
rs2129612343 COSM78343	768	L>I	ovary [Cosmic]	No	cosmic curated Ensembl
COSM1457994 rs2129612344	768	L>P	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs2129612344	768	L>R		No	Ensembl
rs1267322059	769	Q>H		No	gnomAD
rs1809962517	769	Q>K		No	Ensembl
rs2129612346	769	Q>R		No	Ensembl
rs762953723	770	K>E		No	ExAC gnomAD
rs766032740	770	K>I		No	ExAC TOPMed gnomAD
rs1809962937	770	K>N		No	gnomAD
rs766032740	770	K>R		No	ExAC TOPMed gnomAD
rs2129612348	771	S>C		No	Ensembl
rs2129612348	771	S>F		No	Ensembl
rs2129612347	771	S>T		No	Ensembl
rs2129612348	771	S>Y		No	Ensembl
rs2129612349	772	H>D		No	Ensembl
rs2129612350	772	H>L		No	Ensembl
rs1809963122	772	H>Q		No	Ensembl
rs2129612349	772	H>Y		No	Ensembl
rs2129612351	773	S>C		No	Ensembl
rs2129612351	773	S>F		No	Ensembl
rs1809963220	773	S>T		No	Ensembl
TCGA novel	773	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2129612353	774	K>*		No	Ensembl
rs2129612353	774	K>E		No	Ensembl
rs2129612354	774	K>M		No	Ensembl
rs2129612353	774	K>Q		No	Ensembl
rs2129612354	774	K>R		No	Ensembl
rs2129612354	774	K>T		No	Ensembl
rs145498732	775	P>A		No	ESP ExAC TOPMed gnomAD
rs923834676	775	P>H		No	gnomAD
rs923834676	775	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs145498732 COSM231651	775	P>S	skin [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs145498732	775	P>T		No	ESP ExAC TOPMed gnomAD
rs2129612355	776	P>A		No	Ensembl
rs1563541531	776	P>H		No	TOPMed
rs1563541531	776	P>L		No	TOPMed
rs1563541531	776	P>R		No	TOPMed
rs2129612355	776	P>S		No	Ensembl
COSM3669917 rs2129612355	776	P>T	liver [Cosmic]	No	cosmic curated Ensembl
rs1432696049	777	G>A		No	TOPMed gnomAD
rs1432696049	777	G>E		No	TOPMed gnomAD
rs535902535 COSM3650486 COSM3650485	777	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC gnomAD NCI-TCGA Cosmic NCI-TCGA
rs1432696049	777	G>V		No	TOPMed gnomAD
rs1291560005	778	D>H		No	gnomAD
rs1291560005	778	D>N		No	gnomAD
rs1473918521	778	D>V		No	TOPMed
rs2129612357	779	E>D		No	Ensembl
rs2129612356	779	E>K		No	Ensembl
rs2129612359	780	A>E		No	Ensembl
rs2129612359	780	A>G		No	Ensembl
rs2129612358	780	A>P		No	Ensembl
rs2129612358	780	A>T		No	Ensembl
rs1040054096	781	G>A		No	Ensembl
rs1040054096	781	G>E		No	Ensembl
rs2129612361	781	G>R		No	Ensembl
rs1040054096	781	G>V		No	Ensembl
rs2129612362	782	D>E		No	Ensembl
rs868574550	782	D>H		No	Ensembl
rs868574550	782	D>N		No	Ensembl
TCGA novel	782	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1344880475	783	A>G		No	gnomAD
rs2129612363	783	A>T		No	Ensembl
COSM3650487 rs2129612364 COSM3650488	784	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA Cosmic
rs2129612366	785	D>E		No	Ensembl
rs1285283808	785	D>H		No	gnomAD
rs1285283808	785	D>N		No	gnomAD
rs2129612365	785	D>V		No	Ensembl
rs1285283808	785	D>Y		No	gnomAD
rs753947887	786	C>F		No	ExAC gnomAD
rs753947887	786	C>S		No	ExAC gnomAD
rs753947887	786	C>Y		No	ExAC gnomAD
rs138027402	787	K>E		No	ESP ExAC TOPMed gnomAD
rs1809966061	787	K>R		No	Ensembl
rs2129612368	788	V>E		No	Ensembl
rs2129612367	788	V>I		No	Ensembl
rs2129612367	788	V>L		No	Ensembl
rs1261327009	789	E>D		No	TOPMed gnomAD
rs772643153	789	E>K		No	ExAC TOPMed gnomAD
rs772643153	789	E>Q		No	ExAC TOPMed gnomAD
COSM1101293	790	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2129612369	790	E>K		No	Ensembl
rs757509439	791	V>I		No	ExAC gnomAD
rs143964156	793	D>E		No	ESP ExAC TOPMed gnomAD
rs758789015	796	N>T		No	ExAC TOPMed gnomAD
rs780575205	797	T>N		No	ExAC TOPMed gnomAD
rs747350399	798	M>L		No	ExAC TOPMed gnomAD
rs747350399	798	M>V		No	ExAC TOPMed gnomAD
rs755393466	799	A>T		No	ExAC TOPMed gnomAD
COSM1101296 COSM1101295	799	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs376837656	800	I>V		No	ESP ExAC TOPMed gnomAD
rs1446132865	801	I>V		No	gnomAD
rs768979523	802	D>A		No	Ensembl
COSM1700192 rs1314682192 COSM1700193	802	D>N	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed gnomAD
rs1314682192	802	D>Y		No	TOPMed gnomAD
rs1810101644	803	G>A		No	TOPMed
COSM3901221 COSM3901222	803	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs747698460	804	K>Q		No	ExAC gnomAD
rs769509320	804	K>R		No	ExAC gnomAD
rs1262848094	805	K>T		No	TOPMed
rs1810102232	806	E>D		No	gnomAD
COSM3650490 rs1017780787 COSM3650489	806	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed
rs200498074	807	H>D		No	1000Genomes ExAC TOPMed gnomAD
rs200498074	807	H>N		No	1000Genomes ExAC TOPMed gnomAD
rs1196832669	808	V>M		No	gnomAD
rs1273128473	809	S>I		No	gnomAD
rs1273128473	809	S>N		No	gnomAD
TCGA novel	813	D>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1049193896	813	D>G		No	gnomAD
rs1810102896	813	D>N		No	TOPMed
rs1049193896	813	D>V		No	gnomAD
rs774491414	814	N>K		No	ExAC gnomAD
rs770972552	814	N>S		No	ExAC TOPMed gnomAD
rs1810103726	815	V>A		No	gnomAD
rs556313692	815	V>I		No	1000Genomes ExAC gnomAD
rs761889048	816	H>N		No	ExAC TOPMed gnomAD
rs761889048	816	H>Y		No	ExAC TOPMed gnomAD
rs865904786	818	E>K		No	TOPMed
rs865904786	818	E>Q		No	TOPMed
COSM486622 COSM486623	820	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs758520881	820	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs190776975	822	V>L		No	1000Genomes TOPMed gnomAD
COSM1101298 COSM1101297 rs190776975	822	V>M	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
rs1810105476	824	E>K		No	TOPMed
rs1318981775	826	D>G		No	gnomAD
COSM3699152 rs755479314 COSM3699151	826	D>N	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM750870 COSM750871	826	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	828	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs955096765	829	A>V		No	TOPMed gnomAD
rs1810106802	831	I>M		No	gnomAD
rs982395956	831	I>V		No	TOPMed gnomAD
rs1416550897	832	K>R		No	TOPMed gnomAD
rs781488172	834	N>D		No	ExAC TOPMed gnomAD
rs867654402	836	V>M		No	Ensembl
TCGA novel	838	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	839	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1810107699	839	M>V		No	Ensembl
rs777532396	840	I>T		No	ExAC gnomAD
rs755694191	840	I>V		No	ExAC TOPMed gnomAD
rs1205106039	842	P>R		No	TOPMed gnomAD
rs748737323	843	K>E		No	ExAC gnomAD
COSM231655 rs1810108296	844	G>D	skin [Cosmic]	No	cosmic curated Ensembl
rs1810108578	847	S>G		No	TOPMed gnomAD
COSM3650491 COSM3650492	847	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs772153927	850	A>D		No	ExAC gnomAD
rs772153927	850	A>V		No	ExAC gnomAD
rs760556079	851	K>N		No	ExAC gnomAD
rs775104089	851	K>T		No	ExAC gnomAD
rs1810202375	853	L>P		No	TOPMed
COSM6181108 COSM6181109	854	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1477532761	857	A>P		No	TOPMed gnomAD
rs1477532761	857	A>S		No	TOPMed gnomAD
rs1810202682	857	A>V		No	TOPMed
rs764596508	859	S>G		No	gnomAD
COSM1489398 COSM1489397	859	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1239248046	860	D>N		No	gnomAD
rs1264062941	861	E>*		No	TOPMed
rs763103006	861	E>G		No	ExAC gnomAD
rs1264062941	861	E>K		No	TOPMed
rs1445686661	862	H>L		No	TOPMed gnomAD
rs771175028	862	H>Y		No	ExAC TOPMed gnomAD
TCGA novel	863	F>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1292468215	864	V>I		No	gnomAD
TCGA novel	866	N>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs774384157	867	C>R		No	ExAC gnomAD
rs142699843	867	C>S		No	ESP ExAC gnomAD
rs756096317	868	T>I		No	ExAC TOPMed gnomAD
TCGA novel	868	T>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1810204531	869	S>N		No	TOPMed
rs2129612568	870	L>I		No	Ensembl
rs1810204664	871	N>T		No	gnomAD
rs1810204813	872	S>C		No	TOPMed
COSM3650493 COSM3650494	872	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs890042034	873	L>V		No	Ensembl
rs375822811	874	N>I		No	ESP ExAC TOPMed gnomAD
rs375822811	874	N>S		No	ESP ExAC TOPMed gnomAD
rs2129612569	875	E>K		No	Ensembl
COSM3901224 COSM3901223	878	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1005719835	878	P>L		No	Ensembl
rs2129612570	878	P>T		No	Ensembl
COSM3901225 COSM3901226	879	T>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs867199489	880	D>N		No	Ensembl
rs761094069	884	K>N		No	ExAC TOPMed gnomAD
COSM3901227 COSM3901228	884	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1444459184	885	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs2129612572	886	S>I		No	Ensembl
TCGA novel	886	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM6181107 COSM6181106	887	A>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2129612573	887	A>T		No	Ensembl
rs754281394	887	A>V		No	ExAC gnomAD
rs1810206011	888	L>H		No	Ensembl
rs1810205920	888	L>V		No	TOPMed
rs2129612574	889	C>*		No	Ensembl
rs1395087621	889	C>Y		No	gnomAD
rs1810206263	890	S>N		No	TOPMed gnomAD
rs1391648056	890	S>R		No	gnomAD
rs897180163	892	R>G		No	Ensembl
rs2129612575	894	E>K		No	Ensembl
rs994164623	895	H>Q		No	gnomAD
rs1810206653	896	L>I		No	TOPMed
rs1393825315	897	C>R		No	TOPMed gnomAD
rs1810206837	897	C>Y		No	TOPMed
COSM3432524 COSM3432525	899	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2129612576	899	R>S		No	Ensembl
COSM3901230 COSM3901229	900	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1035534288	900	I>T		No	TOPMed gnomAD
rs749929169	900	I>V		No	ExAC gnomAD
rs2129612578	901	S>*		No	Ensembl
COSM3650495 COSM3650496	901	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	901	S>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1303078798	902	S>I		No	gnomAD
TCGA novel	902	S>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs757982109	904	K>R		No	ExAC TOPMed gnomAD
COSM454790 COSM454791	905	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1810454865	906	F>C		No	Ensembl
rs746407799	906	F>L		No	gnomAD
COSM1489399	907	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3650497 rs367863793	908	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs201443824	908	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs201443824	908	R>L		No	ESP ExAC TOPMed gnomAD
rs758672253	909	V>I		No	ExAC TOPMed gnomAD
rs747128864	912	N>H		No	ExAC TOPMed gnomAD
rs1810455822	912	N>S		No	gnomAD
rs2129612788	913	R>S		No	Ensembl
rs769267089	914	A>S		No	ExAC TOPMed gnomAD
rs769267089	914	A>T		No	ExAC TOPMed gnomAD
COSM4918787 rs1810455989	914	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs781779558	915	W>*		No	ExAC gnomAD
rs1297584398	916	P>T		No	gnomAD
rs748543970	918	F>S		No	ExAC gnomAD
rs2129612789	920	Q>*		No	Ensembl
rs2129612789	920	Q>K		No	Ensembl
rs769987443	921	A>D		No	ExAC TOPMed gnomAD
rs769987443	921	A>G		No	ExAC TOPMed gnomAD
rs542715188	922	K>R		No	1000Genomes ExAC TOPMed gnomAD
COSM3779322	923	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs770609231	925	I>T		No	ExAC gnomAD
rs762471950	925	I>V		No	ExAC TOPMed gnomAD
rs2129612790 COSM1457999	926	S>F	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs1488433073	928	L>P		No	gnomAD
COSM3650498	929	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1264802668	929	H>Y		No	gnomAD
rs2129612791	930	S>N		No	Ensembl
COSM3650499	933	F>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1458000	935	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs374592463	935	P>L		No	ESP TOPMed gnomAD
rs1432442663	935	P>S		No	gnomAD
COSM750866	936	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2129612793	936	T>N		No	Ensembl
rs2129612794	937	N>K		No	Ensembl
rs2129612795	938	C>Y		No	Ensembl
rs1810457266	939	H>Q		No	TOPMed gnomAD
COSM3650501	939	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1176521019	940	V>I		No	TOPMed gnomAD
rs752561848	943	M>I		No	ExAC gnomAD
COSM3650503	944	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	945	V>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1158154485	946	S>A		No	gnomAD
rs2129612796	948	P>H		No	Ensembl
rs760670689 COSM228118	948	P>S	skin [Cosmic]	No	cosmic curated ExAC TOPMed
rs759476733	949	K>N		No	gnomAD
rs2129612797	949	K>Q		No	Ensembl
rs1292060270	952	T>A		No	TOPMed gnomAD
rs1292060270	952	T>S		No	TOPMed gnomAD
rs1810458161	953	S>Y		No	Ensembl
rs753702085	954	L>M		No	ExAC TOPMed gnomAD
rs1009630667	955	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs1353085875	955	G>V		No	TOPMed gnomAD
rs1273251191	956	S>G		No	TOPMed
rs4260880	956	S>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs766760003	957	A>S		No	ExAC TOPMed gnomAD
rs766760003	957	A>T		No	ExAC TOPMed gnomAD
rs1240011031	958	F>Y		No	gnomAD
rs1202654833	960	V>D		No	gnomAD
rs1287337314	960	V>I		No	gnomAD
COSM3925514 rs1810459249	961	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1810459312	961	Q>R		No	Ensembl
rs751679946	962	L>V		No	ExAC TOPMed gnomAD
COSM3650504	963	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1263381491	964	S>G		No	gnomAD
rs781428016	964	S>N		No	ExAC TOPMed gnomAD
rs748545252	966	K>Q		No	ExAC gnomAD
rs370828801	967	H>R		No	gnomAD
rs1401991395	968	N>D		No	Ensembl
rs377130096	968	N>S		No	ESP ExAC TOPMed gnomAD
rs1437555974	969	S>F		No	gnomAD
rs1177990692	970	H>N		No	TOPMed gnomAD
rs749711470	970	H>Q		No	ExAC gnomAD
rs770555756	971	D>A		No	ExAC TOPMed gnomAD
rs770555756	971	D>G		No	ExAC TOPMed gnomAD
rs774055325 COSM1700200	972	K>E	skin [Cosmic]	No	cosmic curated ExAC
TCGA novel	973	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1162684255	973	E>K		No	gnomAD
rs1215953628	974	N>D		No	gnomAD
rs1478155605	974	N>S		No	TOPMed gnomAD
rs1017939860	975	K>E		No	Ensembl
rs1202119385	976	S>P		No	gnomAD
rs1202119385	976	S>T		No	gnomAD
RCV000885491 rs61753700	977	S>L		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1585799926	978	E>G		No	Ensembl
TCGA novel	979	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs760493597	979	Q>R		No	ExAC gnomAD
COSM3650505	980	G>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1563550072	980	G>E		No	TOPMed gnomAD
rs764136224	980	G>R		No	ExAC gnomAD
rs554090253	983	S>N		No	1000Genomes ExAC TOPMed gnomAD
rs1194218630	983	S>R		No	gnomAD
rs374869608	984	P>H		No	ESP ExAC gnomAD
rs912103539	985	M>V		No	gnomAD
rs1402084421	986	V>G		No	TOPMed
rs1172291684	986	V>L		No	gnomAD
rs759792838	988	I>V		No	ExAC gnomAD
rs1399670058	989	Q>H		No	Ensembl
rs1175003351	990	H>Y		No	gnomAD
rs144239369	991	T>A		No	ESP ExAC TOPMed gnomAD
rs764084929	992	I>N		No	ExAC TOPMed gnomAD
rs764084929	992	I>S		No	ExAC TOPMed gnomAD
rs760875810	992	I>V		No	ExAC gnomAD
COSM231659 rs754309220	994	T>A	skin [Cosmic]	No	cosmic curated ExAC gnomAD
rs1810490344	995	M>I		No	Ensembl
rs757780115	995	M>T		No	ExAC gnomAD
rs1371669722	995	M>V		No	gnomAD
rs372995818	996	A>T		No	ESP
rs779206847	996	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs758027463	997	A>S		No	ExAC TOPMed gnomAD
COSM3901232 rs758027463	997	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1286616178	999	S>L		No	gnomAD
rs1810490858	1000	G>D		No	TOPMed
rs1450026093	1000	G>S		No	gnomAD
TCGA novel	1001	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1253973357	1002	S>C		No	gnomAD
rs1474721876	1003	L>V		No	TOPMed
rs1455830470	1004	G>R		No	TOPMed gnomAD
rs768146218	1005	Q>E		No	ExAC gnomAD
rs573675739	1007	D>Y		No	1000Genomes ExAC TOPMed gnomAD
rs201190724	1009	H>L		No	ExAC TOPMed gnomAD
rs201190724	1009	H>R		No	ExAC TOPMed gnomAD
rs1386705801	1011	L>V		No	gnomAD
rs1810492735	1012	R>G		No	gnomAD
rs1585800993	1013	Y>D		No	Ensembl
rs1325009951	1014	L>P		No	TOPMed gnomAD
rs1810493384	1015	L>P		No	Ensembl
rs1307078664	1016	K>N		No	TOPMed gnomAD
COSM3650506	1017	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1810493669	1018	E>D		No	Ensembl
COSM6181104	1019	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs370193415	1019	D>V		No	ESP ExAC TOPMed gnomAD
rs1585801034 COSM4925589	1021	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA Cosmic
rs1338746438	1021	E>K		No	gnomAD
rs146544818	1022	T>I		No	ESP ExAC TOPMed gnomAD
rs1281305194	1023	Q>E		No	TOPMed gnomAD
rs1810494326	1023	Q>P		No	gnomAD
rs1810494418	1024	D>A		No	1000Genomes
rs1810494418	1024	D>G		No	1000Genomes
COSM750865	1024	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1624163	1024	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1810494581	1025	I>V		No	TOPMed
rs760817612	1026	Y>C		No	ExAC gnomAD
rs1274014891	1028	K>T		No	TOPMed gnomAD
rs753948233	1030	L>R		No	ExAC gnomAD
rs762274848	1031	G>D		No	ExAC gnomAD
rs1420146641	1034	Q>E		No	gnomAD
rs1335626366	1034	Q>P		No	TOPMed
rs1810495537	1035	T>P		No	TOPMed
rs1810495703	1036	A>T		No	gnomAD
rs1810496122	1039	E>G		No	gnomAD
rs1585801106	1040	V>M		No	Ensembl
rs1244359757	1042	M>I		No	gnomAD
COSM6181102	1042	M>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1217082704	1042	M>V		No	gnomAD
rs140442441	1043	C>R		No	ESP ExAC TOPMed gnomAD
rs140442441	1043	C>S		No	ESP ExAC TOPMed gnomAD
rs1328974208	1044	V>A		No	gnomAD
rs1328974208	1044	V>D		No	gnomAD
rs564405374	1049	D>E		No	1000Genomes ExAC gnomAD
rs752339694	1050	L>F		No	ExAC gnomAD
COSM3925515	1053	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs763654619	1054	I>V		No	ExAC TOPMed gnomAD
rs920294186	1055	T>A		No	TOPMed gnomAD
rs1176717959	1056	Y>H		No	gnomAD
rs533278837	1058	P>S		No	1000Genomes
TCGA novel	1060	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3650508 rs1810643789	1061	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
COSM1569573 rs200550325	1062	R>C	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs200550325	1062	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs775893443	1062	R>H		No	ExAC TOPMed gnomAD
rs200550325	1062	R>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2129612979	1063	K>R		No	Ensembl
rs1810644305	1064	T>A		No	Ensembl
rs1810644305	1064	T>S		No	Ensembl
rs758125979	1067	G>S		No	ExAC gnomAD
rs779840868	1067	G>V		No	ExAC gnomAD
rs1044672052	1069	I>M		No	TOPMed gnomAD
rs1373490571	1072	D>N		No	gnomAD
rs1291132641	1074	D>E		No	gnomAD
rs1810645223	1074	D>G		No	TOPMed
rs556672943 COSM1187557	1075	N>D	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1075	N>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs773246004	1077	K>E		No	ExAC gnomAD
COSM3650509	1077	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3925516	1078	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs866693163	1080	R>G		No	Ensembl
rs771464180	1080	R>K		No	ExAC gnomAD
COSM6181101 rs774652439 COSM1552838	1082	S>N	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs760102200	1082	S>R		No	ExAC gnomAD
rs772515879	1083	K>E		No	ExAC gnomAD
rs1475631893	1083	K>R		No	gnomAD
COSM6181100	1084	R>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1316821029 COSM5652166	1084	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed
rs776025075	1084	R>W		No	ExAC TOPMed gnomAD
TCGA novel	1085	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1409727717	1085	V>I		No	gnomAD
COSM5221023	1086	C>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs760368551	1088	N>S		No	ExAC TOPMed gnomAD
COSM3901234 rs763886172	1089	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1810647050	1092	D>E		No	TOPMed gnomAD
rs753372770	1092	D>V		No	ExAC gnomAD
rs1375998072	1093	E>K		No	TOPMed
rs151002840	1094	Q>H		No	ESP ExAC TOPMed gnomAD
rs1443750541	1094	Q>R		No	gnomAD
COSM3650510	1095	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM5929065	1096	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1354459309	1097	S>F		No	gnomAD
COSM3834963	1097	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1048948922	1100	D>E		No	TOPMed gnomAD
rs764811033	1100	D>Y		No	ExAC TOPMed gnomAD
rs1810647910	1101	T>A		No	TOPMed
rs1347680913 COSM352249	1102	I>T	lung Variant assessed as Somatic; MODERATE impact. breast [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1810648110	1103	S>N		No	TOPMed
rs559893188	1104	N>K		No	1000Genomes
rs750273907	1104	N>S		No	ExAC
rs758358644	1107	S>C		No	ExAC TOPMed gnomAD
rs758358644	1107	S>F		No	ExAC TOPMed gnomAD
rs1004472535	1107	S>P		No	Ensembl
rs751396145	1108	Y>*		No	ExAC gnomAD
rs1563553026	1108	Y>D		No	Ensembl
COSM750862	1110	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1232043376	1111	C>*		No	gnomAD
COSM4940217	1112	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1279497728	1112	N>S		No	gnomAD
rs993078880	1114	N>K		No	gnomAD
rs1282433615	1116	N>D		No	TOPMed gnomAD
rs762846635	1117	S>Y		No	ExAC gnomAD
rs1351371926	1118	I>V		No	TOPMed gnomAD
rs1452937015	1121	F>L		No	gnomAD
rs1563554156	1122	T>I		No	Ensembl
rs1585808593	1122	T>P		No	Ensembl
rs1810706112	1123	S>G		No	TOPMed
rs1810706170	1124	I>V		No	TOPMed
COSM2153082	1127	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1454336650	1128	Q>*		No	gnomAD
rs781052947	1129	C>Y		No	ExAC gnomAD
rs1810706351	1130	S>G		No	TOPMed gnomAD
rs150128151 COSM4903632	1131	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs150128151	1131	S>W		No	ESP ExAC TOPMed gnomAD
rs1810706665	1133	F>L		No	TOPMed
rs12675800	1134	H>P		No	Ensembl
rs367655922	1135	S>N		No	ESP ExAC gnomAD
rs1810706905	1136	D>G		No	Ensembl
rs1438426851	1137	E>G		No	TOPMed gnomAD
COSM1101306 COSM3650511	1138	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2129613056	1138	M>L		No	Ensembl
rs1177888068	1138	M>T		No	gnomAD
COSM1314168	1140	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM750861	1140	S>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1371560750	1141	G>C		No	gnomAD
rs1414435969	1144	L>F		No	gnomAD
rs1294114324	1145	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
COSM1700205	1145	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs755543355	1147	S>N		No	ExAC gnomAD
rs1225693174	1147	S>R		No	TOPMed gnomAD
rs1810723115	1148	V>F		No	TOPMed gnomAD
COSM1458002 rs371787029	1149	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs371787029	1149	R>G		No	ESP ExAC TOPMed gnomAD
COSM276892 rs748595305	1149	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs748595305	1149	R>L		No	ExAC TOPMed gnomAD
rs772916909	1150	I>V		No	ExAC TOPMed gnomAD
rs1276108152	1151	S>A		No	TOPMed gnomAD
rs1276108152	1151	S>T		No	TOPMed gnomAD
COSM454793	1152	H>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1277187724	1152	H>N		No	TOPMed
rs375327044	1154	K>E		No	ESP ExAC TOPMed gnomAD
rs773881804	1155	Q>E		No	ExAC TOPMed gnomAD
rs1810723754	1157	K>E		No	TOPMed
COSM1101307	1157	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1425336743	1157	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1372451844	1159	H>R		No	TOPMed gnomAD
rs1810723912	1159	H>Y		No	gnomAD
rs1321308919	1160	S>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1462397156	1161	C>S		No	gnomAD
rs917716947 COSM1673954	1161	C>Y	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA
rs1170378235	1162	L>H		No	gnomAD
rs1357669036	1163	E>D		No	TOPMed gnomAD
rs1274713858	1163	E>K		No	TOPMed gnomAD
rs1414890843	1164	H>L		No	TOPMed
rs538547228	1166	F>I		No	1000Genomes TOPMed gnomAD
COSM6181099	1166	F>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs767534537	1167	S>G		No	ExAC TOPMed gnomAD
rs1810724733	1168	Q>L		No	Ensembl
COSM3901237	1169	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs866494601	1171	S>L		No	Ensembl
rs1158732139	1174	N>D		No	TOPMed gnomAD
rs369580506	1174	N>S		No	ESP ExAC TOPMed gnomAD
rs369580506	1174	N>T		No	ESP ExAC TOPMed gnomAD
rs1158732139	1174	N>Y		No	TOPMed gnomAD
COSM1101308	1175	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1212812244	1175	L>V		No	TOPMed
COSM4896734	1176	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2129613106 COSM3650512	1178	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs138556155	1178	G>R		No	ESP ExAC TOPMed gnomAD
COSM1287373	1178	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs778599632	1179	Q>H		No	ExAC gnomAD
rs1810743022	1179	Q>K		No	Ensembl
rs756885211	1179	Q>R		No	ExAC gnomAD
COSM3650513	1180	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1295777052	1181	V>F		No	gnomAD
rs745508221	1182	V>M		No	ExAC
rs771550239	1183	R>K		No	ExAC gnomAD
rs868773873	1185	F>S		No	Ensembl
rs1810743688	1186	D>A		No	TOPMed
rs1243563721	1186	D>E		No	TOPMed gnomAD
COSM4912744	1186	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs779455396	1186	D>Y		No	ExAC gnomAD
rs746927435	1188	T>P		No	ExAC gnomAD
rs1329350461	1189	K>E		No	gnomAD
rs768758077	1190	Y>C		No	ExAC TOPMed gnomAD
rs1294271170	1191	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
TCGA novel	1191	L>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1810744030	1191	L>P		No	Ensembl
rs1417055685	1192	T>I		No	TOPMed gnomAD
rs776549761	1193	P>A		No	ExAC gnomAD
rs761762865	1193	P>L		No	ExAC gnomAD
rs1006358066	1194	G>R		No	TOPMed gnomAD
COSM1673955 rs1248374672	1195	R>*	ovary [Cosmic]	No	cosmic curated gnomAD
rs995332079	1195	R>Q		No	TOPMed gnomAD
rs1810744728	1198	Q>E		No	TOPMed
rs1810744797	1198	Q>H		No	Ensembl
COSM1101309	1200	F>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs754952990	1202	Q>K		No	ExAC gnomAD
rs1002113584 COSM1700209	1204	M>I	skin [Cosmic]	No	cosmic curated gnomAD
rs781349991	1204	M>L		No	ExAC TOPMed
rs748104083	1205	E>D		No	ExAC TOPMed
rs1299363328	1205	E>Q		No	TOPMed gnomAD
rs1810759626	1206	P>L		No	gnomAD
COSM454794 rs1810759751	1207	K>N	breast Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated Ensembl NCI-TCGA Cosmic
rs769657897	1210	C>F		No	ExAC TOPMed gnomAD
rs746068325	1211	P>L		No	ExAC TOPMed gnomAD
TCGA novel	1213	R>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1032023587	1213	R>S		No	TOPMed gnomAD
rs1810760376	1214	L>P		No	Ensembl
rs146939492	1215	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs146939492	1215	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs964579317 COSM5417815	1215	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
COSM3942728 rs1344491711	1216	L>F	oesophagus [Cosmic]	No	cosmic curated gnomAD
rs61753702	1218	I>V		No	1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1220	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs764163539	1222	P>T		No	ExAC gnomAD
rs1273558396	1223	W>C		No	gnomAD
TCGA novel	1225	L>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1212722987	1226	P>S		No	gnomAD
rs777063924	1227	S>N		No	ExAC gnomAD
rs1475280627	1227	S>R		No	gnomAD
rs954476245	1228	S>C		No	gnomAD
rs954476245	1228	S>G		No	gnomAD
rs1810761437	1228	S>N		No	Ensembl
rs530869739	1229	V>F		No	1000Genomes ExAC TOPMed gnomAD
COSM2874182 rs530869739	1229	V>I	Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs114811202	1230	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs143386950	1230	R>W		No	ESP ExAC TOPMed gnomAD
rs1214502487	1231	T>A		No	TOPMed gnomAD
rs1214502487	1231	T>P		No	TOPMed gnomAD
rs1450803336	1232	L>F		No	gnomAD
rs1171142599	1232	L>P		No	TOPMed gnomAD
rs1389691066	1233	A>D		No	TOPMed gnomAD
rs1470019045	1233	A>P		No	TOPMed gnomAD
rs1389691066	1233	A>V		No	TOPMed gnomAD
rs758047705	1235	N>I		No	ExAC gnomAD
rs1227610892	1235	N>K		No	Ensembl
rs1266619068	1236	I>F		No	TOPMed gnomAD
rs1266619068	1236	I>V		No	TOPMed gnomAD
rs367733596	1237	R>S		No	ESP
rs1810762653	1237	R>W		No	gnomAD
COSM454795	1239	F>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs766775806	1244	K>R		No	ExAC TOPMed gnomAD
rs759286883	1245	C>Y		No	ExAC TOPMed gnomAD
rs764163951	1247	L>P		No	ExAC TOPMed gnomAD
rs1810914461	1250	A>P		No	TOPMed gnomAD
rs1810914461	1250	A>S		No	TOPMed gnomAD
rs752301045	1252	L>P		No	ExAC gnomAD
rs1810914634	1253	E>V		No	gnomAD
rs982652256	1254	Y>C		No	Ensembl
COSM3779323	1255	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1436851943	1256	D>G		No	Ensembl
rs565195590	1257	S>G		No	ExAC TOPMed gnomAD
COSM3901241	1258	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1811061627	1258	E>K		No	TOPMed
rs781461527	1259	T>I		No	ExAC gnomAD
rs1430480261	1261	L>F		No	TOPMed gnomAD
rs748407123	1262	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs769708831	1262	R>H		No	ExAC TOPMed gnomAD
rs769708831	1262	R>L		No	ExAC TOPMed gnomAD
rs529932247	1263	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs749721515	1264	D>E		No	ExAC
rs1247039606	1264	D>G		No	TOPMed
rs944194986	1265	M>I		No	Ensembl
rs375657596	1265	M>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1811062207	1265	M>V		No	Ensembl
TCGA novel	1267	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs371093581	1269	Q>*		No	ESP ExAC TOPMed gnomAD
rs760041372	1269	Q>R		No	ExAC gnomAD
rs1441133691	1270	T>A		No	TOPMed
rs1340932395	1270	T>I		No	TOPMed gnomAD
rs1340932395	1270	T>N		No	TOPMed gnomAD
rs1441133691	1270	T>P		No	TOPMed
COSM3650514 rs1811062715	1271	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic gnomAD
COSM3901242	1272	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs775225179	1273	A>D		No	ExAC gnomAD
rs1384125543	1273	A>P		No	gnomAD
rs775225179 COSM3901243	1273	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs563277299	1274	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA gnomAD
rs763470420	1276	C>R		No	ExAC gnomAD
rs1811063153	1276	C>S		No	Ensembl
rs1811063197	1277	A>T		No	TOPMed
rs1446117037	1279	S>C		No	TOPMed
rs776242863	1281	Q>K		No	ExAC TOPMed gnomAD
rs969033669	1283	M>L		No	TOPMed gnomAD
rs375506738	1284	A>E		No	ESP ExAC TOPMed gnomAD
COSM1569572 rs375506738	1284	A>V	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1291169568	1285	A>D		No	TOPMed gnomAD
rs758123711	1288	Q>R		No	ExAC TOPMed gnomAD
rs139647952	1289	M>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1811063820	1289	M>R		No	Ensembl
rs139647952	1289	M>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs752818370	1292	N>S		No	ExAC TOPMed gnomAD
rs1004263935	1293	S>I		No	TOPMed gnomAD
rs1320483783	1294	K>E		No	gnomAD
rs868582467 COSM3650515	1295	E>K	upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA
rs565733102	1296	N>I		No	1000Genomes ExAC TOPMed gnomAD
rs565733102	1296	N>S		No	1000Genomes ExAC TOPMed gnomAD
rs1309907827	1297	E>G		No	gnomAD
rs779491358	1297	E>K		No	ExAC
COSM6113525	1298	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs78101420	1298	M>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1811064500	1298	M>T		No	Ensembl
rs1484113215	1299	E>A		No	gnomAD
rs772515874	1299	E>K		No	ExAC gnomAD
rs1811064697	1300	T>A		No	TOPMed gnomAD
COSM3901244	1300	T>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs202075724	1300	T>S		No	TOPMed
TCGA novel	1302	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs374052041	1303	A>G		No	ESP ExAC TOPMed gnomAD
rs183882933	1303	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1811065035	1304	S>N		No	TOPMed
rs1465260088	1306	R>W		No	gnomAD
TCGA novel	1307	W>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1425942562	1311	I>M		No	TOPMed
rs1811065482	1311	I>V		No	TOPMed
rs761455338	1312	A>G		No	ExAC gnomAD
rs761455338	1312	A>V		No	ExAC gnomAD
rs762904030	1313	N>K		No	ExAC gnomAD
rs768241048	1315	G>A		No	ExAC TOPMed gnomAD
TCGA novel	1315	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs768241048	1315	G>D		No	ExAC TOPMed gnomAD
rs768241048	1315	G>V		No	ExAC TOPMed gnomAD
rs751412933	1316	V>F		No	ExAC gnomAD
COSM3996112	1317	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1158831274	1318	F>L		No	TOPMed gnomAD
rs756271665	1319	H>Q		No	ExAC TOPMed gnomAD
COSM422072	1321	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3650516	1321	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1324451575	1322	S>*		No	TOPMed gnomAD
rs764440922	1322	S>P		No	ExAC gnomAD
rs1385665300	1323	L>F		No	TOPMed gnomAD
rs1385665300	1323	L>I		No	TOPMed gnomAD
COSM1458004	1323	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1326	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs757345004	1327	N>D		No	ExAC gnomAD
rs145094126	1327	N>K		No	ESP ExAC TOPMed gnomAD
rs557338072	1328	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes NCI-TCGA
rs780678833	1329	T>A		No	ExAC gnomAD
rs74977392	1329	T>K		No	Ensembl
rs752015034	1331	E>K		No	ExAC gnomAD
rs755313094	1332	Q>K		No	ExAC gnomAD
rs1811155150	1334	M>V		No	Ensembl
COSM3925518	1336	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1811155235	1337	D>N		No	Ensembl
rs781433534	1338	T>I		No	ExAC gnomAD
rs747763086	1339	L>V		No	ExAC TOPMed gnomAD
rs765050918	1340	V>A		No	ExAC TOPMed gnomAD
rs1346193176	1340	V>I		No	TOPMed
rs777245756	1341	A>V		No	ExAC TOPMed gnomAD
rs2129613503	1342	L>Q		No	Ensembl
rs748857444	1342	L>V		No	ExAC gnomAD
rs1227748963	1344	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs770349756	1348	V>I		No	ExAC gnomAD
rs761463567	1350	F>L		No	Ensembl
rs761463567	1350	F>V		No	Ensembl
rs1237289874	1351	Y>*		No	gnomAD
TCGA novel	1351	Y>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1483749990	1353	K>E		No	TOPMed gnomAD
rs1811156948	1353	K>R		No	Ensembl
COSM1458005	1354	P>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1345842257	1356	E>G		No	TOPMed
rs900709661	1356	E>Q		No	Ensembl
COSM3650517	1358	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs771859071	1359	P>L		No	ExAC TOPMed gnomAD
rs771859071	1359	P>R		No	ExAC TOPMed gnomAD
rs2129613504	1359	P>T		No	Ensembl
rs1585822169	1360	L>V		No	Ensembl
rs1811157684	1362	A>T		No	TOPMed
rs1811322905	1364	V>I		No	TOPMed gnomAD
rs1811322946	1365	P>L		No	TOPMed
rs1368544026	1367	T>A		No	gnomAD
TCGA novel	1368	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs771952370	1370	A>T		No	ExAC TOPMed gnomAD
COSM3901246	1371	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1811323273 COSM3650518	1372	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic gnomAD
rs201447318	1373	S>G		No	1000Genomes ExAC gnomAD
rs768578134	1374	R>L		No	ExAC TOPMed gnomAD
rs768578134	1374	R>Q		No	ExAC TOPMed gnomAD
rs2129613663	1376	A>T		No	Ensembl
COSM231662 rs1478170399	1376	A>V	skin [Cosmic]	No	cosmic curated gnomAD
rs1041364032	1377	L>V		No	TOPMed
rs1448746073	1378	K>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1264341647	1380	Y>D		No	TOPMed gnomAD
rs1811323825	1381	F>Y		No	Ensembl
rs763106230	1382	Y>C		No	ExAC TOPMed gnomAD
rs766442992	1383	I>L		No	ExAC gnomAD
rs899738427	1383	I>T		No	Ensembl
rs1811324088	1387	H>N		No	TOPMed
rs61756278	1387	H>R		No	TOPMed gnomAD
rs774338741	1388	F>L		No	ExAC TOPMed gnomAD
rs200596961	1389	E>G		No	1000Genomes ExAC gnomAD
rs143152548	1390	Q>E		No	ESP ExAC TOPMed gnomAD
rs2129613665	1392	P>A		No	Ensembl
rs1350497968	1393	Q>K		No	gnomAD
rs1048080082	1393	Q>P		No	Ensembl
rs372345316	1394	R>Q		No	ESP ExAC TOPMed gnomAD
RCV000969992 rs61753703	1394	R>W		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1015335363	1395	L>P		No	TOPMed gnomAD
rs1811326688	1395	L>V		No	Ensembl
rs375307620	1399	G>E		No	ESP ExAC gnomAD
rs778463584	1399	G>R		No	ExAC TOPMed gnomAD
rs2129613666	1401	F>I		No	Ensembl
rs934633939	1402	K>N		No	TOPMed gnomAD
TCGA novel	1402	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs866534903	1404	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs199709552	1404	H>R		No	1000Genomes ExAC gnomAD
rs866534903 COSM1722545	1404	H>Y	NS Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	1406	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs746957295 COSM3650519	1407	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC gnomAD
rs746957295	1407	L>I		No	ExAC gnomAD
rs1252134467	1407	L>P		No	gnomAD
rs746957295	1407	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1811327505	1409	A>E		No	gnomAD
TCGA novel	1410	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1182604284	1410	Q>K		No	TOPMed gnomAD
rs776600949	1410	Q>R		No	ExAC gnomAD
COSM3901247	1411	A>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs775584198	1414	S>N		No	ExAC gnomAD
rs1330302154	1415	M>I		No	TOPMed
rs761146506	1416	E>K		No	ExAC gnomAD
COSM3650520	1417	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1335517478	1417	G>R		No	gnomAD
rs1019592901	1418	Y>H		No	Ensembl
rs1385587620	1420	Y>D		No	TOPMed gnomAD
rs1385587620	1420	Y>H		No	TOPMed gnomAD
TCGA novel	1421	R>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM3650521 rs901857351	1421	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
COSM4821767	1422	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1015934953	1423	N>D		No	TOPMed
rs1193472966	1423	N>S		No	gnomAD
rs1015934953	1423	N>Y		No	TOPMed
rs996209859	1424	V>A		No	Ensembl
rs769208193	1424	V>I		No	ExAC gnomAD
rs2129613929	1425	S>F		No	Ensembl
rs777049204	1427	E>K		No	ExAC gnomAD
rs1340782003	1428	E>G		No	gnomAD
rs2129613930	1433	I>K		No	Ensembl
rs762016096	1433	I>L		No	ExAC TOPMed gnomAD
rs762016096	1433	I>V		No	ExAC TOPMed gnomAD
rs765648339	1435	A>V		No	ExAC TOPMed gnomAD
rs984838280	1436	A>V		No	gnomAD
COSM750859	1437	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1439	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs369312096	1442	K>E		No	ESP TOPMed
rs749994460	1442	K>I		No	ExAC TOPMed gnomAD
rs369312096	1442	K>Q		No	ESP TOPMed
rs749994460	1442	K>R		No	ExAC TOPMed gnomAD
rs749994460	1442	K>T		No	ExAC TOPMed gnomAD
rs1199645622	1443	Q>E		No	TOPMed gnomAD
rs762727483	1443	Q>H		No	ExAC TOPMed gnomAD
COSM3432526	1445	N>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1445	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs765957874	1445	N>S		No	ExAC TOPMed gnomAD
COSM3901250	1445	N>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs141255081	1446	Q>R		No	ESP ExAC TOPMed gnomAD
COSM750858	1447	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1811562773	1448	L>F		No	gnomAD
rs1563581001	1450	A>T		No	Ensembl
rs547360473	1450	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs758613591	1452	Y>*		No	ExAC TOPMed gnomAD
TCGA novel	1454	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1458	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1812298936	1459	P>L		No	Ensembl
COSM3650522	1459	P>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1488164253	1459	P>T		No	gnomAD
rs1812298984	1460	P>S		No	gnomAD
rs781364814	1461	N>H		No	ExAC gnomAD
rs199977745	1461	N>S		No	1000Genomes ExAC gnomAD
rs199977745	1461	N>T		No	1000Genomes ExAC gnomAD
rs574365130	1462	S>A		No	1000Genomes ExAC gnomAD
rs574365130	1462	S>T		No	1000Genomes ExAC gnomAD
rs538433930	1465	K>E		No	TOPMed gnomAD
rs1413114670	1465	K>N		No	gnomAD
COSM4928037	1467	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1221946 rs202233704	1467	A>T	large_intestine [Cosmic]	No	cosmic curated 1000Genomes
rs1009545427	1468	Y>C		No	TOPMed
rs1009545427	1468	Y>F		No	TOPMed
rs764927710	1470	D>E		No	ExAC TOPMed gnomAD
rs774092508	1470	D>N		No	ExAC gnomAD
rs2129614670	1470	D>V		No	Ensembl
rs2129614671	1471	K>T		No	Ensembl
rs1812312955	1472	L>P		No	TOPMed
COSM4600836	1473	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs771377093	1473	M>T		No	ExAC gnomAD
COSM2152249	1474	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1563581329	1475	P>L		No	Ensembl
rs146962684	1476	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM750857 rs137974526	1477	N>K	lung [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs774855036	1477	N>S		No	ExAC TOPMed gnomAD
TCGA novel	1477	N>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs143014630	1478	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs776501034	1481	E>K		No	ExAC TOPMed gnomAD
rs1170960553	1481	E>V		No	Ensembl
rs761771548	1482	L>F		No	ExAC TOPMed gnomAD
rs761771548	1482	L>I		No	ExAC TOPMed gnomAD
rs764986560	1484	R>*		No	ExAC TOPMed gnomAD
rs563106453	1484	R>Q		No	1000Genomes ExAC gnomAD
rs755144472	1485	L>V		No	ExAC gnomAD
rs1185639048	1486	V>A		No	gnomAD
rs1024432453	1486	V>I		No	gnomAD
rs1359800790	1488	S>A		No	TOPMed gnomAD
rs61753704	1488	S>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs754361405	1490	I>V		No	ExAC gnomAD
rs1812315729	1491	R>G		No	TOPMed gnomAD
rs1338552430	1491	R>I		No	TOPMed gnomAD
rs1338552430	1491	R>K		No	TOPMed gnomAD
rs1812315908	1491	R>S		No	Ensembl
rs371285418	1492	S>C		No	Ensembl
rs150076178	1493	K>R		No	ESP TOPMed gnomAD
rs757884988	1494	R>C		No	ExAC TOPMed gnomAD
rs746308010	1494	R>H		No	ExAC TOPMed gnomAD
rs746308010	1494	R>L		No	ExAC TOPMed gnomAD
rs746308010	1494	R>P		No	ExAC TOPMed gnomAD
rs757884988	1494	R>S		No	ExAC TOPMed gnomAD
rs1271041740	1495	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs147475469	1497	A>S		No	1000Genomes ExAC TOPMed gnomAD
rs147475469	1497	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs1324642764	1497	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
COSM3901252	1498	C>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3650523	1498	C>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1812316672	1499	A>G		No	Ensembl
COSM1221964	1499	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs768172429	1501	T>K		No	ExAC gnomAD
TCGA novel	1502	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs776158607	1503	C>F		No	ExAC gnomAD
rs761716752	1504	S>R		No	ExAC gnomAD
rs1812316872	1505	A>S		No	Ensembl
TCGA novel	1507	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1363346955	1508	V>A		No	TOPMed gnomAD
rs1025147786	1508	V>I		No	TOPMed
rs2129614691	1509	G>R		No	Ensembl
TCGA novel	1511	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1356445283	1511	L>P		No	gnomAD
COSM3834965	1512	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs902713049	1513	V>A		No	TOPMed
rs1812317532	1513	V>E		No	Ensembl
rs766104460	1513	V>F		No	ExAC gnomAD
rs148366673 COSM106797	1514	S>F	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA
rs149428879 COSM5409804	1515	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs945657850	1517	L>P		No	Ensembl
rs1812317996	1520	R>G		No	TOPMed gnomAD
rs754025948	1520	R>S		No	ExAC gnomAD
rs1812317996	1520	R>W		No	TOPMed gnomAD
rs779493257	1521	L>R		No	ExAC
rs757831947	1521	L>V		No	ExAC
rs750905811	1522	G>D		No	ExAC TOPMed gnomAD
rs200083700	1523	A>P		No	ExAC TOPMed gnomAD
rs200083700	1523	A>S		No	ExAC TOPMed gnomAD
rs200083700	1523	A>T		No	ExAC TOPMed gnomAD
rs768347381 COSM217434	1523	A>V	liver [Cosmic]	No	cosmic curated ExAC gnomAD
rs1812318597	1524	C>F		No	Ensembl
rs1346611681	1524	C>R		No	gnomAD
rs780668973	1525	H>R		No	ExAC TOPMed gnomAD
rs1329040912 COSM3650524	1526	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1287053036	1526	I>V		No	TOPMed gnomAD
rs1812318855	1527	I>N		No	TOPMed gnomAD
rs769300469	1528	M>T		No	ExAC gnomAD
rs773147130	1530	S>N		No	ExAC gnomAD
rs762825228	1531	S>N		No	ExAC gnomAD
COSM750855	1532	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1286072779	1532	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
COSM750854	1535	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs754115767	1535	R>L		No	ExAC TOPMed gnomAD
COSM1673957 rs754115767	1535	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
COSM340299 rs139672596	1535	R>W	lung [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs199813003	1536	C>Y		No	1000Genomes ExAC
rs1585871303	1537	T>A		No	gnomAD
rs1585871303	1537	T>P		No	gnomAD
COSM454796	1537	T>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs745588887	1538	L>Q		No	ExAC TOPMed gnomAD
rs984252518	1540	V>M		No	TOPMed gnomAD
rs776942401	1541	T>M		No	ExAC TOPMed gnomAD
rs1414004882	1544	Q>*		No	TOPMed gnomAD
rs1812868899	1545	A>V		No	Ensembl
rs1031818177	1546	I>V		No	TOPMed
rs1812869108	1547	I>F		No	Ensembl
rs1812869185	1547	I>T		No	TOPMed
rs1247043509	1549	A>D		No	TOPMed
rs773214113	1549	A>S		No	ExAC TOPMed gnomAD
rs773214113	1549	A>T		No	ExAC TOPMed gnomAD
rs372243032	1552	H>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs752113779	1553	G>R		No	ExAC TOPMed gnomAD
TCGA novel	1555	P>H	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs752310428 COSM231666	1557	R>C	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1243836474	1557	R>H		No	TOPMed gnomAD
rs1243836474	1557	R>L		No	TOPMed gnomAD
rs376557966	1559	I>V		No	ESP TOPMed gnomAD
rs1563592194	1561	Q>P		No	Ensembl
rs1812870824	1565	V>M		No	Ensembl
rs1344977730	1566	M>I		No	TOPMed gnomAD
rs777320764	1566	M>L		No	ExAC TOPMed gnomAD
rs777320764	1566	M>V		No	ExAC TOPMed gnomAD
rs748812788	1567	R>G		No	ExAC gnomAD
rs759522634 RCV001306487 COSM241247	1567	R>Q	Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs748812788	1567	R>W		No	ExAC gnomAD
TCGA novel	1569	Q>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs372981486	1570	G>R		No	ESP ExAC gnomAD
VAR_035974	1571	A>E	a colorectal cancer sample; somatic mutation [UniProt]	No	UniProt
COSM1101312	1571	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs868748091	1571	A>T		No	gnomAD
COSM4789825	1572	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs973700453	1574	Q>*		No	TOPMed
rs200020354	1577	A>E		No	1000Genomes ExAC TOPMed gnomAD
rs200020354 COSM194882	1577	A>V	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM3834966	1578	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1221965	1578	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1579	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1236733726	1580	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1371341818	1582	V>A		No	TOPMed
rs2129615487	1584	D>E		No	Ensembl
rs746734356 COSM360445	1585	R>Q	lung [Cosmic]	No	cosmic curated ExAC gnomAD
rs780008732	1585	R>W		No	ExAC TOPMed gnomAD
rs1813020323	1586	T>I		No	TOPMed
rs1437834644	1587	P>A		No	gnomAD
COSM3650527	1587	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1437834644	1587	P>S		No	gnomAD
rs367626783	1588	Q>K		No	ESP ExAC TOPMed gnomAD
rs1471907180	1589	S>C		No	TOPMed gnomAD
COSM3650528	1589	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1460692059	1589	S>T		No	TOPMed gnomAD
rs1471907180	1589	S>Y		No	TOPMed gnomAD
rs777912909	1590	A>T		No	ExAC gnomAD
rs146096192	1590	A>V		No	ESP ExAC gnomAD
rs371954703	1592	R>G		No	ESP ExAC TOPMed gnomAD
rs1813166370	1594	Y>N		No	gnomAD
rs747522098	1595	K>R		No	ExAC gnomAD
COSM4916942	1597	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs768935399	1597	C>R		No	ExAC gnomAD
rs777006292	1597	C>Y		No	ExAC gnomAD
rs142298071	1598	E>K		No	ESP ExAC TOPMed gnomAD
rs150821816	1599	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs765963903	1600	P>L		No	ExAC TOPMed gnomAD
rs1292241114	1601	P>H		No	Ensembl
rs751488995	1602	P>A		No	ExAC TOPMed gnomAD
rs948113921	1602	P>L		No	TOPMed gnomAD
rs948113921	1602	P>Q		No	TOPMed gnomAD
rs751488995	1602	P>S		No	ExAC TOPMed gnomAD
TCGA novel rs1813167869	1604	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1463474454	1605	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs754901389	1605	E>V		No	ExAC gnomAD
rs767234494	1606	E>G		No	ExAC TOPMed gnomAD
TCGA novel	1606	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs767234494	1606	E>V		No	ExAC TOPMed gnomAD

No associated diseases with Q70Z35

8 regional properties for Q70Z35

Type	Name	Position	InterPro Accession
domain	Dbl homology (DH) domain	23 - 214	IPR000219
domain	DEP domain	390 - 464	IPR000591-1
domain	DEP domain	492 - 566	IPR000591-2
conserved_site	Guanine-nucleotide dissociation stimulator, CDC24, conserved site	162 - 187	IPR001331
domain	PDZ domain	592 - 674	IPR001478-1
domain	PDZ domain	677 - 749	IPR001478-2
domain	Pleckstrin homology domain	245 - 363	IPR001849
domain	PREX2, DEP domain 1	382 - 462	IPR037367

Functions

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

2 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.

6 GO annotations of biological process

Name	Definition
adult locomotory behavior	Locomotory behavior in a fully developed and mature organism.
dendrite morphogenesis	The process in which the anatomical structures of a dendrite are generated and organized.
G protein-coupled receptor signaling pathway	The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
phosphatidylinositol 3-kinase/protein kinase B signal transduction	A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound.
regulation of signaling	Any process that modulates the frequency, rate or extent of a signaling process.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q58DL7	ARHGEF9	Rho guanine nucleotide exchange factor 9	Bos taurus (Bovine)	SS
O43307	ARHGEF9	Rho guanine nucleotide exchange factor 9	Homo sapiens (Human)	SS
Q6XZF7	DNMBP	Dynamin-binding protein	Homo sapiens (Human)	PR
Q9NR80	ARHGEF4	Rho guanine nucleotide exchange factor 4	Homo sapiens (Human)	EV
A1IGU5	ARHGEF37	Rho guanine nucleotide exchange factor 37	Homo sapiens (Human)	PR
Q96N96	SPATA13	Spermatogenesis-associated protein 13	Homo sapiens (Human)	EV
Q8TCU6	PREX1	Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein	Homo sapiens (Human)	EV
Q5DU57	Spata13	Spermatogenesis-associated protein 13	Mus musculus (Mouse)	SS
Q7TNR9	Arhgef4	Rho guanine nucleotide exchange factor 4	Mus musculus (Mouse)	EV
Q3UTH8	Arhgef9	Rho guanine nucleotide exchange factor 9	Mus musculus (Mouse)	SS
Q69ZK0	Prex1	Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein	Mus musculus (Mouse)	SS
Q3LAC4	Prex2	Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MSEDSRGDSR	AESAKDLEKQ	LRLRVCVLSE	LQKTERDYVG	TLEFLVSAFL	HRMNQCAASK
70	80	90	100	110	120
VDKNVTEETV	KMLFSNIEDI	LAVHKEFLKV	VEECLHPEPN	AQQEVGTCFL	HFKDKFRIYD
130	140	150	160	170	180
EYCSNHEKAQ	KLLLELNKIR	TIRTFLLNCM	LLGGRKNTDV	PLEGYLVTPI	QRICKYPLIL
190	200	210	220	230	240
KELLKRTPRK	HSDYAAVMEA	LQAMKAVCSN	INEAKRQMEK	LEVLEEWQSH	IEGWEGSNIT
250	260	270	280	290	300
DTCTEMLMCG	VLLKISSGNI	QERVFFLFDN	LLVYCKRKHR	RLKNSKASTD	GHRYLFRGRI
310	320	330	340	350	360
NTEVMEVENV	DDGTADFHSS	GHIVVNGWKI	HNTAKNKWFV	CMAKTPEEKH	EWFEAILKER
370	380	390	400	410	420
ERRKGLKLGM	EQDTWVMISE	QGEKLYKMMC	RQGNLIKDRK	RKLTTFPKCF	LGSEFVSWLL
430	440	450	460	470	480
EIGEIHRPEE	GVHLGQALLE	NGIIHHVTDK	HQFKPEQMLY	RFRYDDGTFY	PRNEMQDVIS
490	500	510	520	530	540
KGVRLYCRLH	SLFTPVIRDK	DYHLRTYKSV	VMANKLIDWL	IAQGDCRTRE	EAMIFGVGLC
550	560	570	580	590	600
DNGFMHHVLE	KSEFKDEPLL	FRFFSDEEME	GSNMKHRLMK	HDLKVVENVI	AKSLLIKSNE
610	620	630	640	650	660
GSYGFGLEDK	NKVPIIKLVE	KGSNAEMAGM	EVGKKIFAIN	GDLVFMRPFN	EVDCFLKSCL
670	680	690	700	710	720
NSRKPLRVLV	STKPRETVKI	PDSADGLGFQ	IRGFGPSVVH	AVGRGTVAAA	AGLHPGQCII
730	740	750	760	770	780
KVNGINVSKE	THASVIAHVT	ACRKYRRPTK	QDSIQWVYNS	IESAQEDLQK	SHSKPPGDEA
790	800	810	820	830	840
GDAFDCKVEE	VIDKFNTMAI	IDGKKEHVSL	TVDNVHLEYG	VVYEYDSTAG	IKCNVVEKMI
850	860	870	880	890	900
EPKGFFSLTA	KILEALAKSD	EHFVQNCTSL	NSLNEVIPTD	LQSKFSALCS	ERIEHLCQRI
910	920	930	940	950	960
SSYKKFSRVL	KNRAWPTFKQ	AKSKISPLHS	SDFCPTNCHV	NVMEVSYPKT	STSLGSAFGV
970	980	990	1000	1010	1020
QLDSRKHNSH	DKENKSSEQG	KLSPMVYIQH	TITTMAAPSG	LSLGQQDGHG	LRYLLKEEDL
1030	1040	1050	1060	1070	1080
ETQDIYQKLL	GKLQTALKEV	EMCVCQIDDL	LSSITYSPKL	ERKTSEGIIP	TDSDNEKGER
1090	1100	1110	1120	1130	1140
NSKRVCFNVA	GDEQEDSGHD	TISNRDSYSD	CNSNRNSIAS	FTSICSSQCS	SYFHSDEMDS
1150	1160	1170	1180	1190	1200
GDELPLSVRI	SHDKQDKIHS	CLEHLFSQVD	SITNLLKGQA	VVRAFDQTKY	LTPGRGLQEF
1210	1220	1230	1240	1250	1260
QQEMEPKLSC	PKRLRLHIKQ	DPWNLPSSVR	TLAQNIRKFV	EEVKCRLLLA	LLEYSDSETQ
1270	1280	1290	1300	1310	1320
LRRDMVFCQT	LVATVCAFSE	QLMAALNQMF	DNSKENEMET	WEASRRWLDQ	IANAGVLFHF
1330	1340	1350	1360	1370	1380
QSLLSPNLTD	EQAMLEDTLV	ALFDLEKVSF	YFKPSEEEPL	VANVPLTYQA	EGSRQALKVY
1390	1400	1410	1420	1430	1440
FYIDSYHFEQ	LPQRLKNGGG	FKIHPVLFAQ	ALESMEGYYY	RDNVSVEEFQ	AQINAASLEK
1450	1460	1470	1480	1490	1500
VKQYNQKLRA	FYLDKSNSPP	NSTSKAAYVD	KLMRPLNALD	ELYRLVASFI	RSKRTAACAN
1510	1520	1530	1540	1550	1560
TACSASGVGL	LSVSSELCNR	LGACHIIMCS	SGVHRCTLSV	TLEQAIILAR	SHGLPPRYIM
1570	1580	1590	1600
QATDVMRKQG	ARVQNTAKNL	GVRDRTPQSA	PRLYKLCEPP	PPAGEE