AiPD: Autoinhibited Protein Database

O75051

Gene name	PLXNA2 (KIAA0463, OCT, PLXN2, UNQ209/PRO235)
Protein name	Plexin-A2
Names	Semaphorin receptor OCT
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5362
EC number
Protein Class

Descriptions

PlexA1 (NOV, PLXN1) plays a role in axon guidance, invasive growth and cell migration. Sema domain of PlexA1 restricts PlexA1 to a basal inactive state by binding to the remainder of the ectodomain. Deletion analysis of the PlexinA1 ectodomain demonstrates that the sema domain prevents PlexinA1 activation in the basal state. Sema-deleted PlexinA1 is constitutively active, producing cell contraction, growth cone collapse, and inhibition of neurite outgrowth. Plexin A1 is autoinhibited by its sema domain, and Sema3A/NP1 releases this inhibition. According to mouse Plexin-A3 (P70208), Plexin may possess a segment preceding C1 domain and an RDB domain as autoinhibitory elements.

Autoinhibitory domains (AIDs)

27-508 (Sema domain) SS

Target domain	1311-1864 (Plexin, cytoplasmic RasGAP domain)
Relief mechanism	Partner binding
Assay

AID

27-508 (Sema domain)

Target domain

1311-1864 (Plexin, cytoplasmic RasGAP domain)

Relief mechanism

Partner binding (Semaphorin-induced dimerization)

Assay

1261-1341 (Segment preceding C1 domain) SS

Target domain	1311-1864 (Plexin, RasGAP domain)
Relief mechanism
Assay

AID

1261-1341 (Segment preceding C1 domain)

Target domain

1311-1864 (Plexin, RasGAP domain)

Relief mechanism

Assay

1471-1672 (RBD domain) SS

Target domain	1311-1864 (Plexin, RasGAP domain)
Relief mechanism	Partner binding
Assay

AID

1471-1672 (RBD domain)

Target domain

1311-1864 (Plexin, RasGAP domain)

Relief mechanism

Partner binding (Binding of Rho-family GTPase (Rac1 or Rnd1) in their GTP-bound active form to the RBD)

Assay

Accessory elements

No accessory elements

References

Takahashi T et al. (2001) "Plexina1 autoinhibition by the plexin sema domain", Neuron, 29, 429-39

He H et al. (2009) "Crystal structure of the plexin A3 intracellular region reveals an autoinhibited conformation through active site sequestration", Proceedings of the National Academy of Sciences of the United States of America, 106, 15610-5

Wang Y et al. (2012) "Plexins are GTPase-activating proteins for Rap and are activated by induced dimerization", Science signaling, 5, ra6

Autoinhibited structure

Activated structure

2 structures for O75051

Entry ID	Method	Resolution	Chain	Position	Source
3Q3J	X-ray	197 A	A	1490-1600	PDB
AF-O75051-F1	Predicted				AlphaFoldDB

1891 variants for O75051

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs147839768 RCV003434378 RCV002573515 RCV001976863	67	I>V	PLXNA2-related condition Inborn genetic diseases [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000935157 RCV003169385 rs143885355	97	P>A	Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs774117379 RCV003407889 COSM463871 RCV001897615	174	R>C	kidney Variant assessed as Somatic; MODERATE impact. PLXNA2-related condition [Cosmic, NCI-TCGA, ClinVar]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs149833033 RCV001960366 RCV003407988	205	R>Q	PLXNA2-related condition [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs144365538 RCV003416631 RCV001971854	285	K>E	PLXNA2-related condition [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV003405608 RCV003346517 RCV001363080 rs757914349	302	R>Q	PLXNA2-related condition Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV003395301 RCV001984496 rs200165110	669	A>T	PLXNA2-related condition [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001881432 rs187454222 RCV003407894	683	H>N	PLXNA2-related condition [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000655966 rs1553277591 CA344554395	736	G>S	atypical cerebral palsy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001989930 rs143627584 RCV003408002	774	I>F	PLXNA2-related condition [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001937386 RCV003407860 RCV002548096 rs373107594	808	R>W	Variant assessed as Somatic; MODERATE impact. PLXNA2-related condition Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs145943288 RCV003416540 RCV001884091	952	V>M	PLXNA2-related condition [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002039610 RCV003416495 rs147629478	954	P>A	PLXNA2-related condition [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002006324 RCV003418291 rs561631648	1045	R>H	Variant assessed as Somatic; MODERATE impact. PLXNA2-related condition [NCI-TCGA, ClinVar]	Yes	ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs749983857 RCV003407936 RCV003375433 RCV001910100	1115	R>H	Variant assessed as Somatic; MODERATE impact. PLXNA2-related condition Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV003426223 RCV001904285 rs138766213	1151	T>A	PLXNA2-related condition [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs190868333 RCV001925888 RCV002557666	1336	R>Q	Inborn genetic diseases [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs144005934 RCV001905001 RCV003401793	1391	M>L	PLXNA2-related condition [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV003408095 rs564487452 RCV002043868	1400	Y>F	PLXNA2-related condition [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002020585 rs1215090422 RCV002548199	1428	R>Q	Inborn genetic diseases [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001918568 RCV003407934 rs368547025	1474	I>T	PLXNA2-related condition [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV003264326 RCV001987706 rs200636622 COSM1560305	1556	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001979656 RCV003395325 rs200628052	1628	T>M	PLXNA2-related condition [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002013994 RCV003418336 rs377729868	1635	R>Q	PLXNA2-related condition [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs142549025 RCV001866908 RCV003401779	1751	V>M	PLXNA2-related condition [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM903272	2	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1405005050	3	Q>K		No	gnomAD
rs865813455	4	R>K		No	Ensembl
rs779566453	4	R>W		No	ExAC
rs755693386	5	R>G		No	ExAC gnomAD
rs2782948	5	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
RCV001511026 rs2782948 VAR_056722	5	R>Q		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs755693386	5	R>W		No	ExAC gnomAD
rs781612141	6	P>A		No	ExAC
rs757632097	7	W>*		No	ExAC gnomAD
rs752077297	9	R>G		No	ExAC TOPMed gnomAD
rs544519223	9	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs752077297	9	R>W		No	ExAC TOPMed gnomAD
rs763578924	10	A>T		No	ExAC gnomAD
rs1572044662	10	A>V		No	Ensembl
rs577372550	11	L>P		No	1000Genomes ExAC TOPMed gnomAD
rs1572044652	13	V>G		No	Ensembl
rs1572044640	14	D>A		No	Ensembl
rs1450739014	15	S>G		No	gnomAD
rs765411989	16	R>C		No	ExAC TOPMed gnomAD
rs368987214	16	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs368987214	16	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1285882397	18	V>L		No	TOPMed gnomAD
COSM3400260	21	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1572044570	23	V>G		No	Ensembl
rs1485740986	23	V>L		No	TOPMed
rs1671192406	24	V>A		No	TOPMed
rs1331943453	25	W>C		No	TOPMed gnomAD
rs1572044552	25	W>G		No	Ensembl
rs779484799	26	V>L		No	ExAC TOPMed gnomAD
rs769355682	29	A>D		No	ExAC TOPMed gnomAD
rs769355682	29	A>G		No	ExAC TOPMed gnomAD
rs1157906080	29	A>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1018623403	30	P>A		No	Ensembl
TCGA novel	30	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs778314708	31	P>L		No	ExAC TOPMed gnomAD
COSM1928956 rs778314708	31	P>Q	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC TOPMed gnomAD
rs149664316 RCV000897808	31	P>S		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs149664316	31	P>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1246879296	32	A>G		No	gnomAD
COSM5067870 rs756284848	32	A>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs2102614326	32	A>S		No	Ensembl
rs1200589511	33	A>S		No	gnomAD
rs866934823	34	G>D		No	Ensembl
rs1262943059 COSM425198	34	G>S	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1671190357	36	P>S		No	Ensembl
rs758909264	38	F>L		No	ExAC TOPMed gnomAD
rs753314002	38	F>L		No	ExAC gnomAD
rs765403082	39	S>T		No	ExAC gnomAD
rs998000687	40	T>I		No	TOPMed
rs1478911725	40	T>P		No	Ensembl
rs897954523	41	F>L		No	TOPMed gnomAD
rs1345829712	41	F>Y		No	gnomAD
rs1276787705	42	H>D		No	TOPMed gnomAD
rs1671189336	42	H>L		No	TOPMed gnomAD
rs1671189336	42	H>R		No	TOPMed gnomAD
rs1276787705	42	H>Y		No	TOPMed gnomAD
TCGA novel	44	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1671189077	45	N>I		No	Ensembl
COSM3482829 rs766460058	46	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs766460058 RCV002016450	46	R>G		No	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000974170 rs76008312 COSM425197	46	R>H	breast [Cosmic]	No	cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs201533157	48	W>*		No	TOPMed gnomAD
rs1292639584	49	T>A		No	TOPMed gnomAD
rs536123745	49	T>N		No	1000Genomes ExAC TOPMed gnomAD
rs1332143888	50	F>I		No	gnomAD
rs762867472	51	N>K		No	ExAC TOPMed gnomAD
rs1225598607	51	N>T		No	TOPMed gnomAD
rs948206561	52	H>N		No	Ensembl
rs775476017	53	L>V		No	ExAC TOPMed gnomAD
COSM4230391 rs975879779	55	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs11119014 RCV001511394 VAR_059554	57	Q>R		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs935064020	58	G>R		No	1000Genomes TOPMed gnomAD
COSM4027708 rs538411599	59	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1210065751	60	G>E		No	gnomAD
TCGA novel	61	A>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs979064733	61	A>T		No	TOPMed gnomAD
COSM1221252 rs946385859	61	A>V	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs150210905	62	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1671185273	66	A>S		No	Ensembl
COSM1338494	66	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1218964803	67	I>T		No	gnomAD
rs1671184627	68	N>T		No	TOPMed gnomAD
rs148604381	69	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1029907641	69	R>W		No	TOPMed gnomAD
rs755530703	70	V>F		No	ExAC gnomAD
rs755530703	70	V>I		No	ExAC gnomAD
TCGA novel	73	L>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1338215116	74	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
RCV002020234 rs766481422	74	T>K		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs766481422	74	T>R		No	ExAC TOPMed gnomAD
rs1338215116	74	T>S		No	gnomAD
COSM1928953	75	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs756229066	75	G>S		No	ExAC gnomAD
rs1430621647	76	N>S		No	gnomAD
rs1430621647	76	N>T		No	gnomAD
rs763876891	79	I>V		No	ExAC gnomAD
TCGA novel	80	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
RCV000971204 rs79601528	81	V>L		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs201889146	82	A>V		No	1000Genomes ExAC TOPMed gnomAD
COSM6123905	86	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1258910214	87	P>T		No	gnomAD
rs1671182096	89	E>K		No	TOPMed
rs2102613833	90	D>N		No	Ensembl
rs1310387292	91	N>K		No	gnomAD
rs746654765	93	S>T		No	ExAC gnomAD
rs1671181126	94	C>Y		No	gnomAD
rs1671180986	95	Y>F		No	Ensembl
rs1275903155	96	P>L		No	TOPMed gnomAD
rs1375555165	97	P>L		No	gnomAD
rs1283170912	98	L>P		No	Ensembl
rs779363784	99	I>L		No	ExAC gnomAD
rs1348482018	100	V>M		No	TOPMed gnomAD
rs147064862	105	E>K		No	ESP ExAC TOPMed gnomAD
rs1385069847	106	V>A		No	TOPMed gnomAD
rs2102613685	106	V>L		No	1000Genomes
rs377311089	111	N>K		No	ESP ExAC gnomAD
rs1671177891	111	N>S		No	gnomAD
rs752451489	112	N>S		No	ExAC gnomAD
rs765087564	113	V>F		No	ExAC gnomAD
TCGA novel	114	N>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM903270	118	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	119	I>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1671176785	119	I>T		No	TOPMed
rs776689077	120	D>E		No	ExAC gnomAD
rs1411615797 COSM4824101	120	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl NCI-TCGA
rs142871447	122	S>F		No	1000Genomes ESP ExAC TOPMed gnomAD
rs142871447 RCV000950374	122	S>Y		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1293802155	123	E>A		No	TOPMed gnomAD
COSM903269	123	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1237872764	124	N>K		No	gnomAD
rs1572043940	124	N>T		No	Ensembl
COSM903268 rs772869634	125	R>C	Variant assessed as Somatic; MODERATE impact. endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs771808559	125	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs772869634	125	R>S		No	ExAC TOPMed gnomAD
rs868600484	128	A>S		No	TOPMed gnomAD
TCGA novel	128	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1437568749	132	L>I		No	gnomAD
rs749758154	133	Y>C		No	ExAC gnomAD
rs749758154 COSM6123906 COSM1500660	133	Y>F	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1671175183	133	Y>H		No	Ensembl
rs1671174789	135	G>V		No	TOPMed gnomAD
rs780654392	136	V>F		No	ExAC gnomAD
rs769844603	138	K>Q		No	ExAC gnomAD
rs1266887103	139	L>V		No	TOPMed gnomAD
rs745902177	141	R>Q		No	ExAC TOPMed gnomAD
rs988414799 COSM532482	141	R>W	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1270794187	143	D>G		No	gnomAD
COSM3864353	145	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1572043835	149	V>G		No	Ensembl
rs1214337791	149	V>M		No	gnomAD
rs267598348	152	S>F		No	Ensembl
TCGA novel	154	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1194555199	154	K>R		No	TOPMed gnomAD
rs142508192	156	E>Q		No	ESP TOPMed gnomAD
rs1671171681	157	H>N		No	Ensembl
rs199587642	161	S>G		No	1000Genomes ExAC TOPMed gnomAD
rs1300086937	162	V>D		No	TOPMed gnomAD
rs1671171036	163	N>K		No	gnomAD
rs754841925	163	N>S		No	ExAC gnomAD
rs753696854	164	K>N		No	ExAC TOPMed gnomAD
rs766289349	165	T>A		No	ExAC gnomAD
rs774922495 COSM1338493	165	T>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs767145339	166	G>S		No	ExAC TOPMed gnomAD
rs1671170373	167	T>P		No	TOPMed
rs1671170301	168	M>I		No	TOPMed
rs946333528	170	G>R		No	TOPMed gnomAD
COSM6060809	170	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1176982164	172	I>M		No	gnomAD
rs1481572425	173	V>L		No	TOPMed gnomAD
rs1481572425	173	V>M		No	TOPMed gnomAD
rs146682244	174	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs146682244	174	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs139661983	175	S>P		No	ESP ExAC TOPMed gnomAD
rs1262281277	176	E>A		No	TOPMed gnomAD
rs1469503072	176	E>D		No	TOPMed gnomAD
rs1392502757	179	D>H		No	TOPMed
TCGA novel	179	D>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1013247512	184	I>V		No	TOPMed gnomAD
rs1223742763	185	G>S		No	gnomAD
rs1325294715	185	G>V		No	gnomAD
rs200743147	186	T>A		No	Ensembl
rs746379855	186	T>M		No	ExAC gnomAD
rs1341557974	188	V>A		No	gnomAD
rs1341557974	188	V>G		No	gnomAD
TCGA novel	188	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1572043627	191	K>E		No	Ensembl
rs896257348	192	Q>K		No	TOPMed
rs1572043610	194	Y>S		No	Ensembl
rs1572043597	195	F>S		No	Ensembl
rs1233326598	196	P>L		No	TOPMed gnomAD
rs1572043579	197	T>P		No	Ensembl
rs1572043571	199	S>P		No	Ensembl
rs758569436	200	S>T		No	ExAC gnomAD
rs1398435180	201	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1466791865	201	R>W		No	TOPMed gnomAD
rs779998663	202	K>N		No	ExAC gnomAD
rs1671165941	204	P>L		No	gnomAD
rs1373446570	204	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs540347153	205	R>*		No	1000Genomes ExAC TOPMed gnomAD
rs540347153	205	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs1671165517	208	E>D		No	Ensembl
rs1671165254	210	S>L		No	Ensembl
rs961211489	210	S>P		No	gnomAD
rs751151837	211	A>D		No	ExAC gnomAD
rs751151837	211	A>V		No	ExAC gnomAD
TCGA novel	212	M>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	214	D>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs952193874	214	D>G		No	Ensembl
rs150703572	214	D>N		No	ESP TOPMed gnomAD
rs2102612877	215	Y>*		No	Ensembl
rs1197633176	219	S>G		No	gnomAD
rs1415728575	220	D>E		No	TOPMed
rs1167131844	220	D>Y		No	TOPMed gnomAD
COSM903267	221	F>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1048690080	222	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1048690080	222	V>I		No	TOPMed gnomAD
rs1048690080	222	V>L		No	TOPMed gnomAD
rs1253506250	224	S>A		No	gnomAD
rs1243245068	224	S>C		No	TOPMed gnomAD
COSM241190 rs1243245068	224	S>F	prostate [Cosmic]	No	cosmic curated TOPMed gnomAD
COSM678824	225	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs368778836	225	L>V		No	ESP ExAC gnomAD
COSM4027704	233	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs760025946	234	A>G		No	ExAC gnomAD
rs747060561	236	V>D		No	ExAC gnomAD
rs542656101	236	V>L		No	1000Genomes TOPMed gnomAD
rs1367775237 COSM3482828	238	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
TCGA novel rs2102612741	240	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs773195910	242	F>S		No	ExAC
rs748328377	244	I>N		No	ExAC gnomAD
rs755720443	244	I>V		No	Ensembl
TCGA novel	245	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs143125665	246	G>S		No	ESP ExAC TOPMed gnomAD
rs143119210	251	G>D		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1208476957	251	G>S		No	gnomAD
RCV002083705 rs143119210	251	G>V		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1332022137	255	F>S		No	TOPMed
rs757166639	256	L>V		No	ExAC gnomAD
rs1434579839	257	T>I		No	TOPMed gnomAD
rs1671160615	258	V>L		No	Ensembl
COSM425196	259	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1308703956	260	P>L		No	gnomAD
TCGA novel	261	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs200909289 COSM903266	261	E>K	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs200909289	261	E>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1321858272	262	T>I		No	TOPMed gnomAD
rs1321858272	262	T>N		No	TOPMed gnomAD
TCGA novel	264	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs752404690	264	E>G		No	ExAC TOPMed gnomAD
rs1671159852	264	E>K		No	TOPMed
rs181787622	265	G>C		No	1000Genomes TOPMed
rs181787622	265	G>S		No	1000Genomes TOPMed
rs1043954844	265	G>V		No	Ensembl
TCGA novel	266	V>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs138081202	266	V>M		No	ESP
RCV001513469 VAR_059555 rs3748735	267	A>T		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs777000677	268	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA
rs1176124383	269	N>S		No	TOPMed gnomAD
rs1176124383	269	N>T		No	TOPMed gnomAD
rs1426533615	270	S>C		No	gnomAD
rs761090281	271	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs553163344	273	D>N		No	1000Genomes ExAC gnomAD
rs1671157005	274	L>P		No	TOPMed
rs1671157080	274	L>V		No	TOPMed
rs889567987	276	Y>F		No	Ensembl
rs879190457	277	T>N		No	Ensembl
COSM1338492 rs772097656	279	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1474889326	279	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs772097656	279	R>S		No	ExAC gnomAD
rs201134624	280	I>M		No	1000Genomes ExAC TOPMed gnomAD
rs745548805	281	V>L		No	TOPMed gnomAD
rs745548805	281	V>M		No	TOPMed gnomAD
rs1671156100	282	R>Q		No	TOPMed
rs1049849429	282	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs1270066084	284	C>W		No	gnomAD
rs1558250023	286	D>G		No	Ensembl
rs1671155529	287	D>E		No	TOPMed
rs1572043132	287	D>G		No	TOPMed
COSM75991	289	K>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs769692828	289	K>T		No	ExAC gnomAD
rs1376415803	290	F>V		No	TOPMed gnomAD
rs1437038690	292	S>*		No	Ensembl
rs1352976113	294	V>M		No	TOPMed gnomAD
rs1232830678	297	P>L		No	gnomAD
rs1344628166	298	F>Y		No	gnomAD
rs201815135	299	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs1358599723	300	C>S		No	gnomAD
rs1317581865	300	C>Y		No	gnomAD
rs1572043057	301	T>P		No	Ensembl
rs143028527	302	R>W		No	ESP ExAC TOPMed gnomAD
COSM4027703	303	A>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1430382247	303	A>P		No	gnomAD
rs1430382247	303	A>S		No	gnomAD
COSM3482826	303	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs754654582	304	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1572043014	305	V>G		No	Ensembl
TCGA novel	306	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs550963257	306	E>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1217142453	307	Y>*		No	gnomAD
rs2102612187	307	Y>N		No	Ensembl
rs1572042997	307	Y>S		No	Ensembl
rs766665234	308	R>C		No	ExAC TOPMed gnomAD
rs952207957	308	R>H		No	TOPMed gnomAD
rs952207957	308	R>L		No	TOPMed gnomAD
rs1200083603	309	L>R		No	gnomAD
rs1225063828	311	Q>*		No	gnomAD
rs1023543301	311	Q>H		No	TOPMed gnomAD
rs761226738	311	Q>L		No	ExAC gnomAD
rs916696823	312	A>G		No	TOPMed gnomAD
rs1431408286	312	A>S		No	TOPMed gnomAD
rs1671151057	313	A>V		No	TOPMed
rs750955202	314	Y>C		No	ExAC gnomAD
rs1671150721	316	A>P		No	Ensembl
rs991197791	317	K>E		No	Ensembl
rs991197791	317	K>Q		No	Ensembl
rs762030623	318	P>L		No	ExAC gnomAD
rs371985757	319	G>E		No	ESP ExAC TOPMed gnomAD
rs1178181782	319	G>R		No	gnomAD
rs763276369	320	D>E		No	ExAC TOPMed gnomAD
rs768962549	320	D>H		No	ExAC gnomAD
rs1235773670	321	S>L		No	TOPMed gnomAD
rs555250804	325	A>D		No	TOPMed
rs555250804	325	A>G		No	TOPMed
rs776513633	325	A>P		No	ExAC gnomAD
rs776513633	325	A>T		No	ExAC gnomAD
rs1265183685	327	N>H		No	TOPMed gnomAD
rs2102611971	327	N>S		No	Ensembl
RCV002049668 rs1196989250	328	I>V		No	ClinVar TOPMed dbSNP gnomAD
rs1315767778	329	T>I		No	TOPMed gnomAD
rs770691022	330	S>C		No	ExAC gnomAD
rs1389237900	330	S>N		No	TOPMed gnomAD
rs746962336	330	S>R		No	ExAC TOPMed gnomAD
rs138609776	332	D>E		No	1000Genomes ExAC TOPMed gnomAD
rs1451226759	333	D>E		No	gnomAD
rs751507906	333	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1301012919	334	V>I		No	TOPMed
TCGA novel	336	F>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs747616448	337	A>S		No	ExAC TOPMed gnomAD
rs1228030976	337	A>V		No	TOPMed
rs150144401	338	I>L		No	1000Genomes ExAC TOPMed gnomAD
rs966993350	338	I>T		No	gnomAD
rs150144401	338	I>V		No	1000Genomes ExAC TOPMed gnomAD
rs1171605553	343	Q>P		No	gnomAD
rs1171605553	343	Q>R		No	gnomAD
COSM4027702	344	K>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs753545846	345	Q>K		No	ExAC gnomAD
rs1424871958	346	Y>*		No	TOPMed gnomAD
rs1412196212	346	Y>C		No	TOPMed gnomAD
RCV001973479 rs2102611817	348	H>Y		No	ClinVar Ensembl dbSNP
COSM1582887 rs756471942	349	P>L	meninges [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1445241759	349	P>S		No	gnomAD
TCGA novel	350	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1394708500	351	D>E		No	TOPMed gnomAD
rs200228152	351	D>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1442622837	353	S>C		No	TOPMed
rs1671146064	354	A>S		No	TOPMed
rs1671146064	354	A>T		No	TOPMed
rs1572042679	354	A>V		No	Ensembl
rs762443660	357	A>S		No	ExAC
rs762443660	357	A>T		No	ExAC
rs1323533167	357	A>V		No	TOPMed gnomAD
rs1048555286	358	F>L		No	TOPMed
rs995671864	359	P>L		No	TOPMed gnomAD
rs1028092979	360	I>S		No	TOPMed gnomAD
rs1297559580	360	I>V		No	TOPMed
rs200774108	361	R>Q		No	ESP ExAC TOPMed gnomAD
rs202043088	361	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs763255585	363	I>T		No	ExAC gnomAD
rs1359523342 RCV001893081	365	L>M		No	ClinVar TOPMed dbSNP gnomAD
rs900854110	366	Q>H		No	gnomAD
rs770730534	366	Q>P		No	ExAC gnomAD
TCGA novel	368	K>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1671144635	368	K>R		No	Ensembl
RCV001514229 VAR_058201 rs4844658	369	E>G		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1671144556	369	E>K		No	TOPMed
rs1671144150	370	R>C		No	TOPMed gnomAD
rs748090782	370	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs748090782	370	R>L		No	ExAC TOPMed gnomAD
rs1671144150	370	R>S		No	TOPMed gnomAD
rs748904410	372	Q>K		No	ExAC TOPMed gnomAD
rs1205814402	376	Q>*		No	gnomAD
rs1671143286	376	Q>L		No	TOPMed
COSM6123907	378	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs144926586	378	E>K		No	ESP ExAC TOPMed gnomAD
rs1352986843	379	G>D		No	TOPMed gnomAD
rs916615087	380	N>K		No	Ensembl
rs1348951966	384	N>K		No	TOPMed gnomAD
rs1481461411	388	G>E		No	TOPMed gnomAD
rs1671142241	389	K>T		No	Ensembl
rs1671141804	390	D>A		No	TOPMed gnomAD
rs752943578	390	D>E		No	ExAC TOPMed gnomAD
rs1490506066	390	D>N		No	TOPMed gnomAD
rs765330302	391	V>I		No	ExAC gnomAD
rs759807744	392	Q>*		No	ExAC gnomAD
rs1290442574	392	Q>R		No	TOPMed gnomAD
rs1671141277	393	C>F		No	TOPMed
rs927950076	395	K>N		No	Ensembl
rs1225127086	396	A>V		No	TOPMed gnomAD
rs778037020	399	P>A		No	ExAC gnomAD
rs541665004	399	P>R		No	Ensembl
rs778037020	399	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs763977223	400	I>F		No	ExAC gnomAD
rs763977223	400	I>V		No	ExAC gnomAD
rs1250049052	401	D>A		No	gnomAD
rs774808038 COSM903263	401	D>N	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1227306007	403	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1026859307	405	C>Y		No	Ensembl
rs573720371	406	G>E		No	Ensembl
rs1394319085	409	I>V		No	TOPMed gnomAD
rs1670900344	410	N>K		No	TOPMed
rs1572035791	411	Q>E		No	Ensembl
TCGA novel	411	Q>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2102599726	414	G>R		No	Ensembl
rs745506267	414	G>V		No	ExAC TOPMed gnomAD
RCV001942507 rs192830917	415	G>A		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs192830917	415	G>D		No	1000Genomes ExAC TOPMed gnomAD
rs1165981785	417	T>A		No	TOPMed gnomAD
rs1165981785	417	T>P		No	TOPMed gnomAD
rs1461400159	420	E>D		No	TOPMed gnomAD
rs1373523832	421	G>A		No	gnomAD
rs200820675	424	L>M		No	1000Genomes ExAC
rs1670898648	426	T>I		No	gnomAD
rs1670898571	427	T>A		No	TOPMed
rs1670898493	427	T>N		No	TOPMed
rs201719454	428	S>R		No	1000Genomes ExAC TOPMed gnomAD
rs1462405400	429	R>K		No	gnomAD
rs1192239687	430	D>H		No	TOPMed gnomAD
rs201461876	431	R>C		No	ExAC TOPMed gnomAD
COSM5742802 rs756356414	431	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs201461876	431	R>S		No	ExAC TOPMed gnomAD
TCGA novel rs1670897340	432	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1393964489	432	M>L		No	Ensembl
rs1244443387	433	T>I		No	gnomAD
rs1670897021	435	V>M		No	TOPMed gnomAD
TCGA novel	436	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs751285743	437	S>P		No	ExAC gnomAD
rs561320692	439	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs1396963218	441	N>I		No	gnomAD
rs142684842	441	N>K		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM3976938 rs1422738658	442	G>S	lung [Cosmic]	No	cosmic curated TOPMed gnomAD
rs764622896	443	Y>C		No	ExAC gnomAD
rs1670896013	444	S>I		No	gnomAD
rs141605287 RCV000897806	445	V>L		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs141605287 RCV001933812	445	V>M		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs773696660	446	V>F		No	ExAC gnomAD
rs1572035610	446	V>G		No	Ensembl
TCGA novel	447	F>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1438697413	447	F>L		No	TOPMed gnomAD
rs772553496	448	V>A		No	ExAC TOPMed
rs772553496	448	V>G		No	ExAC TOPMed
rs1670894945	449	G>E		No	gnomAD
rs1253181306	449	G>R		No	TOPMed gnomAD
rs1558246047	450	T>A		No	Ensembl
rs1670894581	451	K>M		No	TOPMed
rs1670894505	452	S>N		No	Ensembl
rs1490341768	453	G>S		No	gnomAD
rs779518451	454	K>N		No	ExAC gnomAD
rs769062197	455	L>V		No	ExAC gnomAD
rs1670893574	456	K>R		No	Ensembl
rs1302676679	457	K>N		No	TOPMed gnomAD
TCGA novel	457	K>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs767158031	458	I>V		No	ExAC gnomAD
rs1435900172	459	R>Q		No	TOPMed gnomAD
rs538577214	459	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs774717549	460	A>S		No	ExAC TOPMed gnomAD
rs763448190	461	D>N		No	ExAC TOPMed gnomAD
rs147087031 COSM4027701	462	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs771120948	463	P>L		No	ExAC TOPMed gnomAD
rs776608351	463	P>S		No	ExAC gnomAD
rs776608351	463	P>T		No	ExAC gnomAD
rs778762105 RCV002042773	464	P>H		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs778762105	464	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs778762105	464	P>R		No	ExAC TOPMed gnomAD
COSM3482824 rs747212210	464	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs747212210	464	P>T		No	ExAC TOPMed gnomAD
COSM290614	465	H>M	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs200374067	465	H>N		No	1000Genomes ExAC TOPMed gnomAD
COSM1262555 rs752105673	465	H>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1207216692	465	H>Q		No	Ensembl
rs866246345	465	H>R		No	Ensembl
rs200374067	465	H>Y		No	1000Genomes ExAC TOPMed gnomAD
rs1445341858	466	G>R		No	gnomAD
rs780086936	467	G>A		No	ExAC gnomAD
rs756150502	468	V>I		No	ExAC TOPMed gnomAD
rs749880805	469	Q>R		No	ExAC gnomAD
rs764412969	471	E>D		No	ExAC TOPMed gnomAD
rs147945367 COSM3689331	471	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
rs139676203	472	M>T		No	ESP ExAC TOPMed gnomAD
rs534545518	473	V>D		No	1000Genomes ExAC TOPMed gnomAD
rs765696446	474	S>C		No	ExAC gnomAD
rs1668482831	475	V>A		No	TOPMed
rs1668482769	476	L>P		No	Ensembl
rs200454924	479	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs1364203284	481	P>L		No	gnomAD
rs1412198490	481	P>S		No	gnomAD
rs747220146	483	L>F		No	ExAC gnomAD
rs1346356430	484	R>Q		No	TOPMed gnomAD
rs773351580	484	R>W		No	ExAC TOPMed gnomAD
rs1668481750	485	D>N		No	TOPMed
rs957059507	486	M>V		No	TOPMed gnomAD
RCV001964739 rs373494232	487	A>T		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1571961922	488	F>S		No	Ensembl
rs769795871	489	S>F		No	ExAC gnomAD
rs769795871	489	S>Y		No	ExAC gnomAD
rs901768807	490	I>F		No	Ensembl
COSM903260 rs1182570452	490	I>T	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs267598347	491	D>N		No	gnomAD
RCV001909642 rs750345311	493	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs750345311	493	R>G		No	ExAC TOPMed gnomAD
rs780752137 RCV001895831	493	R>H		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs750345311	493	R>S		No	ExAC TOPMed gnomAD
rs146345221	494	Y>C		No	ESP ExAC TOPMed gnomAD
rs1668480643 TCGA novel	495	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs777356335	497	V>I		No	ExAC TOPMed gnomAD
rs1213177558	498	M>T		No	gnomAD
TCGA novel	500	E>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs146022512	500	E>D		No	ESP ExAC TOPMed gnomAD
COSM5433372	500	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1254753757	502	Q>*		No	Ensembl
TCGA novel	502	Q>D	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs746462213	503	V>F		No	ExAC gnomAD
rs777274302	505	R>S		No	ExAC TOPMed gnomAD
rs267598346	507	P>S		No	TOPMed gnomAD
rs267598346	507	P>T		No	TOPMed gnomAD
rs567426643	508	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs567426643	508	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs200125065	511	C>R		No	Ensembl
rs1482127336	513	Q>R		No	TOPMed
rs748891470	514	Y>C		No	ExAC gnomAD
rs1459739485	515	T>A		No	gnomAD
RCV001936793 rs367700351 COSM5379502	515	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1667151960	516	T>I		No	Ensembl
rs1489790963	518	G>V		No	TOPMed
rs767762586	519	E>A		No	ExAC TOPMed gnomAD
rs1667151562	519	E>K		No	TOPMed
rs2102418103	520	C>S		No	Ensembl
rs2102418097	522	S>R		No	Ensembl
rs762120598	524	G>R		No	ExAC gnomAD
rs759203916	526	P>L		No	ExAC gnomAD
rs1391420340	526	P>S		No	TOPMed gnomAD
rs1244030696	529	G>S		No	gnomAD
TCGA novel	530	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs201088484	531	C>G		No	ExAC gnomAD
rs770711602	532	A>S		No	ExAC
rs1337678398	533	L>M		No	TOPMed gnomAD
rs746983067	534	H>Q		No	ExAC TOPMed
rs1667150507	535	N>S		No	Ensembl
rs373329448	536	M>I		No	ESP ExAC gnomAD
rs1427269254	536	M>L		No	TOPMed
rs2102418022	536	M>R		No	Ensembl
rs1427269254	536	M>V		No	TOPMed
rs200814952	537	C>*		No	ExAC TOPMed gnomAD
rs200698765	537	C>G		No	ExAC gnomAD
rs200698765 RCV001896701	537	C>R		No	ClinVar ExAC dbSNP gnomAD
rs200814952	537	C>W		No	ExAC TOPMed gnomAD
rs1197910991	537	C>Y		No	gnomAD
rs780275690	538	S>A		No	ExAC gnomAD
rs756541044	538	S>F		No	ExAC TOPMed
rs780275690	538	S>P		No	ExAC gnomAD
rs780275690	538	S>T		No	ExAC gnomAD
rs746356521 COSM1127157	539	R>C	Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs375280101	539	R>H		No	ESP ExAC TOPMed gnomAD
rs375280101	539	R>L		No	ESP ExAC TOPMed gnomAD
rs375280101	539	R>P		No	ESP ExAC TOPMed gnomAD
rs766059645	540	R>G		No	ExAC gnomAD
COSM3966232	540	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs767371793	541	D>E		No	ExAC
rs760410405	541	D>G		No	ExAC gnomAD
rs967455618	541	D>Y		No	TOPMed gnomAD
rs761749164	543	C>S		No	ExAC gnomAD
rs1323698055	545	Q>R		No	TOPMed gnomAD
rs1667004958	546	A>S		No	TOPMed
rs1667004958	546	A>T		No	TOPMed
COSM903255 rs1022090935	546	A>V	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1382278599	548	E>D		No	gnomAD
rs773719578	548	E>K		No	ExAC gnomAD
rs1157641683	549	P>S		No	gnomAD
rs1458045871	550	N>D		No	gnomAD
TCGA novel rs200018597	551	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs200018597	551	R>G		No	Ensembl
rs768278879	551	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1174898584	553	A>D		No	TOPMed gnomAD
rs1174898584	553	A>V		No	TOPMed gnomAD
rs1667003901	555	S>C		No	TOPMed
rs1279883056	555	S>R		No	gnomAD
rs566451776	556	I>M		No	1000Genomes ExAC TOPMed gnomAD
rs1480420894	556	I>T		No	gnomAD
RCV001875145 rs1201038023	557	S>I		No	ClinVar dbSNP gnomAD
rs775255264	558	Q>H		No	ExAC TOPMed gnomAD
rs1445354806	558	Q>R		No	TOPMed gnomAD
rs1311967051	559	C>Y		No	TOPMed gnomAD
rs1571913736	560	V>M		No	Ensembl
rs769594491	562	L>F		No	ExAC TOPMed gnomAD
rs769594491	562	L>I		No	ExAC TOPMed gnomAD
rs1258275736	563	A>T		No	TOPMed
rs1221586750	564	V>G		No	gnomAD
rs1269824128	564	V>L		No	gnomAD
rs1667002492	565	H>R		No	TOPMed
rs746197050	567	S>I		No	ExAC gnomAD
rs746197050	567	S>N		No	ExAC gnomAD
rs1275402401	568	S>N		No	TOPMed gnomAD
rs1667001678	574	H>Q		No	TOPMed
rs1667001599	575	S>N		No	TOPMed
rs777714144	576	R>Q		No	ExAC TOPMed gnomAD
rs372234233	576	R>W		No	ESP ExAC TOPMed gnomAD
rs1212114642	579	S>G		No	gnomAD
rs1436059894	579	S>N		No	TOPMed gnomAD
rs1273859654	579	S>R		No	TOPMed gnomAD
rs1205205513	581	V>G		No	gnomAD
rs370152719	582	V>M		No	ESP ExAC TOPMed gnomAD
rs1666914752	584	D>N		No	gnomAD
rs1380310675	585	A>V		No	gnomAD
rs1350361314	587	D>E		No	TOPMed gnomAD
rs1440490853	587	D>V		No	gnomAD
COSM4715905	589	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs751331750 COSM903253	590	A>V	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs143375126	592	I>V		No	ESP ExAC TOPMed gnomAD
rs759262069	593	A>G		No	ExAC gnomAD
rs764899856	593	A>S		No	ExAC TOPMed gnomAD
rs764899856	593	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
RCV002105696 rs139288752	595	A>T		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs369914319	595	A>V		No	ESP ExAC gnomAD
COSM678828	597	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1666911979	600	T>I		No	TOPMed gnomAD
COSM3984680	602	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs773451537	603	E>K		No	ExAC TOPMed gnomAD
rs1328924354	604	G>A		No	TOPMed gnomAD
rs1412303491	606	V>G		No	gnomAD
rs1343689390	607	S>T		No	gnomAD
rs1213075754	608	G>E		No	TOPMed gnomAD
rs753515319	608	G>R		No	ExAC gnomAD
TCGA novel	608	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs980305088	609	S>G		No	TOPMed gnomAD
rs367873971	609	S>I		No	ESP TOPMed gnomAD
rs367873971	609	S>N		No	ESP TOPMed gnomAD
rs749487475	610	Q>L		No	ExAC TOPMed gnomAD
rs749487475	610	Q>R		No	ExAC TOPMed gnomAD
rs1571911195	611	V>G		No	Ensembl
rs780199347	612	I>F		No	ExAC TOPMed gnomAD
rs756322985	612	I>M		No	ExAC gnomAD
rs780199347	612	I>V		No	ExAC TOPMed gnomAD
rs1473559992	617	G>A		No	TOPMed gnomAD
TCGA novel	617	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1666908835	617	G>R		No	TOPMed gnomAD
rs1473559992	617	G>V		No	TOPMed gnomAD
rs992691404	618	P>A		No	gnomAD
rs12029683 RCV002091169	618	P>H		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs992691404	618	P>S		No	gnomAD
rs1666907127	620	D>G		No	Ensembl
rs1666907257	620	D>H		No	TOPMed
rs1223419032	621	V>F		No	TOPMed
rs1666906896	622	P>R		No	TOPMed gnomAD
rs752647007	623	V>D		No	ExAC gnomAD
rs150558490 RCV000951237	623	V>I		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1558189690	624	I>N		No	Ensembl
rs530848476	625	P>L		No	ExAC TOPMed gnomAD
rs530848476	625	P>Q		No	ExAC TOPMed gnomAD
rs1666905494	627	D>H		No	Ensembl
TCGA novel	628	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs775536914	630	W>C		No	ExAC
COSM72230	632	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1666877430	636	Q>P		No	TOPMed
rs1448383564	640	K>E		No	TOPMed gnomAD
rs769833670	640	K>R		No	ExAC TOPMed gnomAD
rs1166132195	641	E>K		No	gnomAD
rs771211087	643	G>A		No	ExAC TOPMed gnomAD
rs776769661	643	G>R		No	ExAC TOPMed gnomAD
rs1201504522	644	K>R		No	gnomAD
rs1201504522	644	K>T		No	gnomAD
rs758073119	646	F>I		No	TOPMed gnomAD
rs758073119	646	F>V		No	TOPMed gnomAD
rs1666876299	649	T>I		No	TOPMed
rs952771933	649	T>S		No	TOPMed
TCGA novel	650	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1277018045	650	E>A		No	gnomAD
rs768696991	650	E>D		No	ExAC TOPMed gnomAD
rs866521000	650	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1490576095	652	K>N		No	TOPMed
rs1028293811	652	K>R		No	TOPMed
rs1338457189	654	Y>H		No	gnomAD
COSM3400259	654	Y>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs377747282	655	N>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1201610298	655	N>S		No	Ensembl
rs1666875164	656	C>Y		No	gnomAD
rs1571910296	658	A>S		No	Ensembl
rs755627036	659	H>R		No	ExAC gnomAD
rs11118983	660	Q>H		No	Ensembl
rs1002763026	660	Q>K		No	Ensembl
rs941758698	662	C>W		No	Ensembl
rs769800792	663	L>P		No	ExAC gnomAD
rs780768597	664	S>F		No	ExAC gnomAD
rs745308027	664	S>P		No	ExAC gnomAD
rs756890988	666	V>I		No	ExAC gnomAD
TCGA novel	667	N>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs369545013	668	S>R		No	ExAC TOPMed gnomAD
rs1362671150	669	A>D		No	TOPMed gnomAD
TCGA novel	669	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1384595522	671	R>C		No	gnomAD
rs753129962	671	R>H		No	ExAC TOPMed gnomAD
rs1666760795	673	H>R		No	TOPMed
rs1163493837	673	H>Y		No	gnomAD
rs1666760694	674	W>*		No	TOPMed
rs1459755556	674	W>*		No	gnomAD
rs1459755556	674	W>C		No	gnomAD
rs1666760440	677	Y>C		No	Ensembl
COSM1338489 rs1410296684	678	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1241165682	680	L>F		No	TOPMed
rs755516725	682	T>P		No	ExAC gnomAD
rs755516725	682	T>S		No	ExAC gnomAD
rs187454222	683	H>Y		No	1000Genomes ExAC TOPMed gnomAD
rs766629133	685	P>A		No	ExAC gnomAD
rs1666759348	686	T>N		No	TOPMed
rs369300149	694	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP NCI-TCGA TOPMed gnomAD
rs760945204	694	R>W		No	ExAC TOPMed gnomAD
rs1252704998	696	N>D		No	TOPMed
rs1666758316	698	S>A		No	gnomAD
rs1666449581	700	D>A		No	gnomAD
rs754405149	702	P>S		No	ExAC gnomAD
TCGA novel	704	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1666449381	705	V>M		No	Ensembl
rs756211780	708	E>*		No	ExAC TOPMed gnomAD
rs756211780	708	E>K		No	ExAC TOPMed gnomAD
rs756211780	708	E>Q		No	ExAC TOPMed gnomAD
rs1558183811	708	E>V		No	Ensembl
rs750560728	710	I>F		No	ExAC TOPMed gnomAD
rs1666448623	710	I>N		No	TOPMed
rs767781096	711	L>S		No	ExAC TOPMed gnomAD
rs1347378190	711	L>V		No	gnomAD
rs1417031378	713	P>L		No	TOPMed
rs1175550274	715	G>E		No	gnomAD
rs762107117 COSM678829	715	G>R	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1666447839	716	E>V		No	Ensembl
rs1558183770	718	K>N		No	TOPMed
rs1666447659	719	P>A		No	TOPMed gnomAD
rs775134978	720	I>V		No	ExAC TOPMed gnomAD
rs1389717057	721	T>I		No	gnomAD
rs1571898341	721	T>P		No	Ensembl
rs1189518561	724	A>S		No	TOPMed gnomAD
rs1189518561	724	A>T		No	TOPMed gnomAD
rs765146840	724	A>V		No	ExAC TOPMed gnomAD
rs776599661	725	R>*		No	ExAC gnomAD
rs770880735 RCV002017073 COSM425195	725	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs746484415	726	N>S		No	ExAC gnomAD
rs1666446687	728	P>S		No	Ensembl
rs1666446539	729	Q>*		No	gnomAD
rs1212323465	730	P>L		No	TOPMed gnomAD
rs771657807	731	Q>E		No	ExAC gnomAD
rs143539447	733	G>S		No	ESP ExAC TOPMed gnomAD
rs150244971	735	R>*		No	ESP TOPMed gnomAD
rs1333272868	736	G>V		No	TOPMed
rs548524489	738	E>A		No	1000Genomes ExAC gnomAD
rs372353186	738	E>K		No	ESP ExAC gnomAD
rs1427888531	740	V>I		No	gnomAD
rs750472853	741	L>F		No	ExAC gnomAD
rs1411929683	742	N>K		No	TOPMed gnomAD
rs781479036	742	N>S		No	ExAC gnomAD
rs932352196	743	I>V		No	TOPMed gnomAD
RCV001899304 rs148156850	745	G>E		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs757417086	745	G>R		No	ExAC gnomAD
rs1191557036	746	A>T		No	TOPMed
rs1190058726	747	I>V		No	gnomAD
rs764921071	748	H>Y		No	ExAC gnomAD
rs367712536	749	R>Q		No	ESP ExAC TOPMed gnomAD
rs1666443949	749	R>W		No	Ensembl
rs201718455 RCV001951209	750	V>A		No	ClinVar 1000Genomes ExAC dbSNP gnomAD
rs753667788	750	V>F		No	ExAC gnomAD
COSM3864352	751	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs772699228 COSM213982	752	A>T	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
COSM4413965 rs374437126	754	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs761345723 COSM5350035	754	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1571898110	759	S>G		No	Ensembl
rs774003053	759	S>N		No	ExAC TOPMed gnomAD
rs749597067	760	V>I		No	ExAC TOPMed gnomAD
rs1666442650	761	Q>*		No	Ensembl
COSM4027694	762	C>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1666442495	764	N>S		No	gnomAD
rs1444498462	765	S>G		No	gnomAD
rs1348292043	765	S>I		No	TOPMed gnomAD
rs1348292043	765	S>N		No	TOPMed gnomAD
rs1348292043	765	S>T		No	TOPMed gnomAD
COSM1262558 rs780579422	766	S>L	Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs780579422	766	S>W		No	ExAC TOPMed gnomAD
rs2102387142	767	Y>H		No	Ensembl
rs1261812536	770	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
COSM903252 rs185488994	771	G>D	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1666379248	772	M>T		No	TOPMed
rs536600191	773	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs748440287	775	S>G		No	ExAC gnomAD
rs779797934	776	N>S		No	ExAC TOPMed gnomAD
rs1295692522	778	A>T		No	gnomAD
rs200900857	779	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs750245867	780	D>E		No	ExAC gnomAD
rs1289340858	780	D>G		No	gnomAD
rs145289578	782	A>T		No	ESP TOPMed gnomAD
COSM425193	783	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs762663943	784	V>E		No	ExAC TOPMed gnomAD
rs1186345307	784	V>L		No	gnomAD
rs1666377336	785	W>*		No	gnomAD
rs1666377435	785	W>S		No	TOPMed
rs139151743	786	N>K		No	ESP ExAC TOPMed gnomAD
rs765006161	787	G>C		No	ExAC TOPMed gnomAD
rs765006161	787	G>S		No	ExAC TOPMed gnomAD
rs1571895844	790	I>V		No	TOPMed
rs1211611316	791	I>T		No	gnomAD
rs759941477	791	I>V		No	ExAC gnomAD
rs1666376581	792	D>E		No	TOPMed gnomAD
rs1350215628	792	D>G		No	gnomAD
rs1272743052	793	N>K		No	TOPMed gnomAD
rs900350391	794	P>R		No	Ensembl
rs866613417	794	P>S		No	Ensembl
rs1227989228	795	Q>R		No	TOPMed gnomAD
rs1666376180	796	D>N		No	TOPMed
rs990991614	799	V>A		No	TOPMed gnomAD
COSM4027693	799	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs761812396	800	H>Y		No	ExAC gnomAD
rs2102381846	802	Y>H		No	Ensembl
rs774425246	803	K>N		No	ExAC TOPMed gnomAD
rs1666262016	803	K>Q		No	TOPMed
rs17011882 RCV001510289 VAR_059556	805	A>G		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000883971 rs76422797	805	A>S		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs76422797	805	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1666261424	806	A>D		No	gnomAD
rs1666261424	806	A>G		No	gnomAD
rs1438477570	807	Q>*		No	gnomAD
rs144501612	808	R>Q		No	ESP ExAC gnomAD
rs777814979	809	E>D		No	ExAC gnomAD
rs1487366245	809	E>G		No	gnomAD
rs1666260712	810	S>I		No	TOPMed
rs752198790	812	G>S		No	ExAC TOPMed gnomAD
TCGA novel	814	C>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel rs1666260438	814	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs2102381747	816	K>N		No	Ensembl
rs760903809	818	D>G		No	ExAC gnomAD
rs758535080 COSM241189 RCV002006565	818	D>N	prostate [Cosmic]	No	cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs369205564	819	R>Q		No	ESP ExAC TOPMed gnomAD
rs533963210 COSM4423392	819	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1666259486	820	K>N		No	Ensembl
rs2102381708	820	K>T		No	Ensembl
rs1362547367	821	F>Y		No	TOPMed gnomAD
rs140708630	822	E>D		No	ESP ExAC TOPMed gnomAD
rs1666259249	822	E>G		No	gnomAD
rs566462316	823	C>R		No	1000Genomes ExAC gnomAD
rs1284264990	824	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1666258664	825	W>*		No	TOPMed
rs978765809	826	C>*		No	TOPMed gnomAD
rs202222167	826	C>G		No	ExAC gnomAD
rs1159151592	826	C>W		No	gnomAD
rs770086827	828	G>D		No	ExAC TOPMed gnomAD
rs775525988 COSM4715902	828	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs772110767	829	E>*		No	ExAC TOPMed gnomAD
rs1331655397	829	E>A		No	gnomAD
rs772110767	829	E>K		No	ExAC TOPMed gnomAD
COSM3356505 rs748132868	830	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs778558207	830	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs748132868	830	R>S		No	ExAC TOPMed gnomAD
rs754499884	832	C>G		No	ExAC gnomAD
rs1350735929	833	T>I		No	TOPMed gnomAD
rs1204521257	833	T>P		No	gnomAD
rs1571892233	834	L>F		No	Ensembl
rs1261917881	835	H>Y		No	gnomAD
rs1341626261	836	Q>L		No	gnomAD
rs1230477260	837	H>D		No	gnomAD
rs41309627	837	H>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1303710469	837	H>Q		No	gnomAD
RCV000974039 rs41309627	837	H>R		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1230477260	837	H>Y		No	gnomAD
rs373038058	838	C>R		No	ESP ExAC TOPMed gnomAD
rs755816537	839	T>I		No	ExAC TOPMed gnomAD
rs1003740701	839	T>P		No	TOPMed
rs1003740701	839	T>S		No	TOPMed
rs750766040	840	S>I		No	ExAC TOPMed gnomAD
rs767911738	840	S>R		No	ExAC gnomAD
rs750766040	840	S>T		No	ExAC TOPMed gnomAD
rs1459325413	841	P>L		No	TOPMed gnomAD
rs1666255292	841	P>T		No	Ensembl
TCGA novel	842	S>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1020508042	842	S>A		No	TOPMed gnomAD
rs143711247	842	S>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs143711247 RCV001393532	842	S>F		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs143711247 RCV001991730	842	S>Y		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002012378 rs2102381402	843	S>G		No	ClinVar Ensembl dbSNP
rs1465613732	843	S>N		No	TOPMed gnomAD
rs764598882	843	S>R		No	ExAC TOPMed gnomAD
rs1666254562	844	P>S		No	TOPMed
rs762874329	845	W>*		No	ExAC TOPMed gnomAD
rs762874329	845	W>C		No	ExAC TOPMed gnomAD
rs1666254069	847	D>G		No	Ensembl
rs201952593	847	D>H		No	ESP ExAC TOPMed gnomAD
rs201952593 RCV001914656	847	D>N		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs201952593 COSM3976937	847	D>Y	lung [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs1192228761	848	W>C		No	gnomAD
rs773107405	849	S>A		No	ExAC gnomAD
rs773107405	849	S>P		No	ExAC gnomAD
rs1286264936	852	N>S		No	TOPMed gnomAD
rs748081480	856	S>F		No	ExAC gnomAD
rs772055752	856	S>P		No	ExAC gnomAD
rs748081480	856	S>Y		No	ExAC gnomAD
rs1666253332	858	P>L		No	TOPMed
rs768673452	861	T>S		No	ExAC gnomAD
rs779666190	862	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs774860807	863	I>V		No	ExAC gnomAD
COSM1221253 rs926061835	865	T>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
TCGA novel rs1421438635	866	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1421438635	866	V>M		No	TOPMed gnomAD
rs374824615	867	S>C		No	ESP TOPMed gnomAD
rs1665595765	868	G>E		No	gnomAD
rs1665595505	869	P>L		No	TOPMed
rs1665595639	869	P>S		No	TOPMed
rs1004682768	870	P>L		No	TOPMed gnomAD
COSM3789426	871	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs778247065	872	G>R		No	ExAC gnomAD
rs1665594854	873	G>R		No	gnomAD
rs955150227	874	T>K		No	TOPMed gnomAD
rs955150227 RCV001965067	874	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs754005837 COSM173975	875	R>*	Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs754005837	875	R>G		No	ExAC TOPMed gnomAD
rs766663884	875	R>L		No	ExAC TOPMed gnomAD
rs766663884	875	R>Q		No	ExAC TOPMed gnomAD
rs761029466	876	V>L		No	ExAC gnomAD
rs1665593906	877	T>S		No	Ensembl
rs1558170967	878	I>V		No	TOPMed gnomAD
rs900154323	879	H>Q		No	TOPMed
rs1213490450	879	H>R		No	gnomAD
rs1336012560	880	G>V		No	gnomAD
rs200059023	881	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
RCV001952933 rs200059023 COSM903250	881	V>M	endometrium [Cosmic]	No	cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs367921125	884	G>D		No	ESP
rs367921125	884	G>V		No	ESP
TCGA novel	887	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs762787986	889	E>K		No	ExAC TOPMed gnomAD
COSM1928868 rs769622910	891	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs759006269	893	H>Q		No	ExAC TOPMed gnomAD
TCGA novel	894	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1665591969	894	V>M		No	TOPMed
rs776140179	897	A>V		No	ExAC TOPMed gnomAD
rs770547655	898	G>R		No	ExAC gnomAD
rs1571873189	899	V>M		No	TOPMed
rs1571873170	900	P>L		No	TOPMed
TCGA novel	900	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1286458485	900	P>T		No	TOPMed gnomAD
rs1250756470	901	C>*		No	gnomAD
rs147652560	902	T>K		No	ESP ExAC TOPMed gnomAD
RCV001930373 rs147652560	902	T>M		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs147652560	902	T>R		No	ESP ExAC TOPMed gnomAD
rs777992690	902	T>S		No	ExAC gnomAD
rs779406769	905	P>L		No	ExAC gnomAD
rs779406769	905	P>Q		No	ExAC gnomAD
rs1284987194	908	Y>H		No	TOPMed gnomAD
rs1284987194	908	Y>N		No	TOPMed gnomAD
rs780324228	910	I>T		No	ExAC
rs753949662	910	I>V		No	ExAC TOPMed gnomAD
rs750717398	911	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs767649079	911	A>V		No	ExAC gnomAD
rs1327808892	912	E>D		No	gnomAD
rs1182630349	913	Q>*		No	TOPMed gnomAD
TCGA novel	913	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1211717753	920	H>R		No	gnomAD
rs1486736038	921	A>T		No	gnomAD
TCGA novel	921	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs754903930	923	V>A		No	ExAC gnomAD
rs765055718	923	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs765055718	923	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs577236126	924	G>E		No	1000Genomes
rs548975568 COSM1338487	924	G>R	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed
rs1558167575	924	G>SVNIC*		No	Ensembl
rs1571866852	925	T>I		No	TOPMed
RCV001878658 rs1571866852	925	T>S		No	ClinVar TOPMed dbSNP
rs1571866839	926	T>P		No	Ensembl
rs1558167566	926	T>R		No	Ensembl
rs1665362946	928	G>A		No	gnomAD
rs760161390	928	G>R		No	ExAC
rs1452542589	929	P>S		No	TOPMed gnomAD
rs1452542589	929	P>T		No	TOPMed gnomAD
rs772625710	930	V>I		No	ExAC gnomAD
COSM903246 rs148647105	931	R>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs148647105	931	R>G		No	ESP ExAC TOPMed gnomAD
COSM1185721 rs558770025	931	R>H	lung [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs558770025	931	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs148647105	931	R>S		No	ESP ExAC TOPMed gnomAD
rs372829845	934	I>T		No	ESP ExAC TOPMed gnomAD
TCGA novel	935	G>W	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs770455227 COSM1338486	936	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs770455227	936	E>Q		No	ExAC TOPMed gnomAD
rs1665361439	937	C>S		No	TOPMed
rs1665361241	938	K>*		No	TOPMed
rs1210046585	939	P>T		No	TOPMed
rs1665360971	940	E>Q		No	TOPMed
rs781177467	941	F>L		No	ExAC gnomAD
TCGA novel rs1179468855	942	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	TOPMed NCI-TCGA
rs138161636	942	M>K		No	ESP TOPMed gnomAD
rs757470444	942	M>L		No	ExAC TOPMed gnomAD
rs757470444	942	M>V		No	ExAC TOPMed gnomAD
rs762034814	943	T>M		No	Ensembl
COSM3789425	943	T>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1030809626	944	K>T		No	Ensembl
rs1665360196	945	S>T		No	TOPMed
rs1248679581	946	H>R		No	gnomAD
rs778662912	947	Q>E		No	ExAC gnomAD
COSM1473353	950	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs140488835	950	T>I		No	1000Genomes ESP ExAC TOPMed gnomAD
RCV001997451 rs140488835	950	T>N		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1251624760	951	F>L		No	TOPMed gnomAD
rs145943288	952	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1258369499	953	N>S		No	gnomAD
rs1451392144	954	P>L		No	gnomAD
rs147629478	954	P>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs147629478	954	P>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1335934649	955	S>Y		No	gnomAD
rs750388130	956	V>L		No	ExAC gnomAD
rs1370813400	960	N>D		No	TOPMed gnomAD
rs751148055	960	N>I		No	ExAC TOPMed gnomAD
rs1558166566 RCV001992485	960	N>K		No	ClinVar TOPMed dbSNP gnomAD
rs751148055	960	N>S		No	ExAC TOPMed gnomAD
rs1665295326	961	P>S		No	TOPMed
rs763791581	962	I>F		No	ExAC TOPMed gnomAD
rs148394446 COSM139355	963	R>*	Variant assessed as Somatic; HIGH impact. skin endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs148394446	963	R>G		No	ESP ExAC TOPMed gnomAD
rs765586959	963	R>Q		No	ExAC TOPMed gnomAD
TCGA novel	965	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs776941937	966	E>K		No	ExAC TOPMed gnomAD
rs776941937	966	E>Q		No	ExAC TOPMed gnomAD
rs2102336630	968	G>E		No	Ensembl
rs760702524 RCV001927472	970	T>A		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs1665294326	971	M>T		No	Ensembl
rs1665294062	973	T>A		No	TOPMed
rs773298902	973	T>I		No	ExAC TOPMed gnomAD
rs764102147	976	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1350817550	977	H>Y		No	gnomAD
rs1011498868	978	Y>F		No	TOPMed
rs200260543	978	Y>H		No	Ensembl
rs368782986	979	L>F		No	ESP ExAC TOPMed gnomAD
rs368782986	979	L>V		No	ESP ExAC TOPMed gnomAD
rs1665292740	983	S>N		No	gnomAD
rs1665292562	984	S>N		No	TOPMed
rs376646242	984	S>R		No	ESP ExAC TOPMed gnomAD
rs1034036746	985	V>A		No	TOPMed
TCGA novel	985	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs371995694	985	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1318301245	986	A>E		No	gnomAD
rs1325148339	986	A>T		No	gnomAD
rs1226290040	987	V>A		No	TOPMed
rs1665291750	988	Y>H		No	Ensembl
rs2102336485	989	L>P		No	Ensembl
rs752454014	990	G>S		No	ExAC gnomAD
rs759749343	992	Q>*		No	ExAC TOPMed gnomAD
rs759749343	992	Q>K		No	ExAC TOPMed gnomAD
rs561413231	993	T>N		No	1000Genomes ExAC TOPMed gnomAD
rs868834231	995	E>D		No	Ensembl
COSM4027691 rs766742913	995	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs368033332	998	G>R		No	ESP ExAC TOPMed gnomAD
rs770905104	999	R>K		No	ExAC TOPMed gnomAD
rs1665257658	1001	M>I		No	Ensembl
rs1189456798	1001	M>L		No	TOPMed gnomAD
COSM1500667 rs1189456798 COSM6123913	1001	M>V	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs533214931	1002	S>N		No	1000Genomes ExAC gnomAD
rs368536249	1003	E>G		No	ESP ExAC TOPMed gnomAD
rs1335404891	1005	V>A		No	gnomAD
rs949851527 COSM903245	1005	V>M	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs2102335023	1006	C>*		No	Ensembl
rs1327895746	1007	V>F		No	TOPMed gnomAD
rs1327895746	1007	V>I		No	TOPMed gnomAD
COSM3803741	1009	P>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1665256217	1009	P>L		No	gnomAD
rs778531255	1009	P>T		No	ExAC TOPMed gnomAD
rs749030516	1010	P>L		No	ExAC TOPMed gnomAD
rs1558165893	1010	P>T		No	Ensembl
rs1183108742	1011	S>T		No	TOPMed gnomAD
COSM3864351 rs1468221639	1015	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic gnomAD
rs1468221639	1015	L>I		No	gnomAD
rs1468221639	1015	L>V		No	gnomAD
rs140131144 RCV001936189	1017	P>L		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs140131144	1017	P>Q		No	ESP ExAC TOPMed gnomAD
rs140131144	1017	P>R		No	ESP ExAC TOPMed gnomAD
rs1236311451	1018	V>A		No	Ensembl
rs1271827211	1023	S>G		No	gnomAD
COSM1221250 rs1427495366	1025	D>N	large_intestine [Cosmic]	No	cosmic curated gnomAD
rs765560771	1026	R>*		No	ExAC gnomAD
rs760505532	1026	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs773160280	1028	H>R		No	ExAC gnomAD
rs1350165363	1029	V>A		No	gnomAD
rs772110824	1030	D>G		No	ExAC gnomAD
rs1175753605	1030	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2102334813	1031	S>N		No	Ensembl
rs1021066659	1032	N>S		No	Ensembl
rs773723649	1033	L>M		No	ExAC gnomAD
rs1665253318	1036	E>K		No	TOPMed
rs529116482	1036	E>V		No	1000Genomes ExAC gnomAD
rs769459775	1038	I>T		No	ExAC TOPMed gnomAD
rs779644980	1038	I>V		No	ExAC gnomAD
rs1665252674	1039	D>H		No	TOPMed
rs1323042435	1040	D>E		No	TOPMed
rs1472462648	1040	D>Y		No	gnomAD
rs1219281958	1041	P>L		No	TOPMed
rs375491783	1042	R>L		No	ESP ExAC TOPMed gnomAD
rs375491783	1042	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1290103 rs781578343	1042	R>W	Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1441920297	1044	Q>*		No	gnomAD
rs752165049	1045	R>C		No	ExAC TOPMed gnomAD
rs561631648	1045	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs752165049	1045	R>S		No	ExAC TOPMed gnomAD
rs765503632	1046	I>M		No	ExAC TOPMed gnomAD
rs371235330	1046	I>V		No	ESP ExAC TOPMed gnomAD
TCGA novel	1047	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1213704855	1047	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1416011581	1049	E>G		No	TOPMed
rs1182710983	1049	E>K		No	TOPMed gnomAD
rs1665250683	1050	W>C		No	TOPMed
rs767409647	1051	S>R		No	ExAC TOPMed gnomAD
rs1422205214	1052	I>V		No	TOPMed gnomAD
rs1346007812	1053	A>V		No	gnomAD
rs751337481	1056	H>Q		No	ExAC TOPMed gnomAD
rs1665244134	1056	H>Y		No	TOPMed
rs1665243901	1057	T>I		No	gnomAD
rs1195870123	1058	P>A		No	TOPMed gnomAD
rs1195870123	1058	P>T		No	TOPMed gnomAD
rs762918464	1059	L>V		No	ExAC gnomAD
rs759059260	1061	I>V		No	ExAC TOPMed gnomAD
rs1571863318	1062	T>I		No	Ensembl
rs146144297	1064	F>I		No	ESP TOPMed gnomAD
TCGA novel	1065	N>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1307078835	1068	V>F		No	TOPMed gnomAD
rs1665242594	1070	Q>*		No	TOPMed
rs1665242435	1071	E>K		No	TOPMed
rs1258689652	1072	P>T		No	TOPMed gnomAD
COSM4854915	1073	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1219530760	1074	I>V		No	TOPMed gnomAD
rs773494654	1075	R>*		No	ExAC gnomAD
rs1396192835	1075	R>Q		No	gnomAD
rs1665241720	1078	F>L		No	gnomAD
rs772596243	1079	N>K		No	ExAC TOPMed gnomAD
rs981751810	1079	N>S		No	Ensembl
rs1461813588	1080	G>D		No	gnomAD
rs1665241225	1081	K>E		No	TOPMed
rs1665241130	1082	E>V		No	TOPMed
rs201743224	1084	V>A		No	1000Genomes ExAC TOPMed gnomAD
rs748729396	1084	V>I		No	ExAC TOPMed gnomAD
rs1209743654	1085	N>D		No	TOPMed gnomAD
rs200078068	1085	N>S		No	TOPMed gnomAD
rs1665054255	1086	V>M		No	Ensembl
rs1665054056	1088	K>E		No	TOPMed gnomAD
rs148175324	1088	K>T		No	ESP ExAC TOPMed gnomAD
rs1040467279	1089	V>I		No	gnomAD
rs780038474	1093	T>A		No	ExAC gnomAD
rs1571858390	1094	T>P		No	Ensembl
rs1388588553	1096	T>S		No	gnomAD
rs746135852	1099	A>V		No	ExAC TOPMed gnomAD
rs1373220753	1102	L>M		No	TOPMed
rs1373220753	1102	L>V		No	TOPMed
rs758121500	1103	T>I		No	ExAC TOPMed gnomAD
RCV001986646 rs752519049	1104	T>M		No	ClinVar ExAC TOPMed dbSNP gnomAD
COSM4027690	1106	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1160182065	1107	R>C		No	TOPMed gnomAD
rs1160182065	1107	R>G		No	TOPMed gnomAD
rs765109287	1107	R>H		No	ExAC TOPMed gnomAD
rs1238704093	1109	G>R		No	gnomAD
rs1665052088	1110	L>R		No	Ensembl
rs1328044558	1111	D>G		No	TOPMed
rs985459639	1111	D>Y		No	Ensembl
rs753354329	1112	T>A		No	ExAC TOPMed gnomAD
rs1434380536	1112	T>I		No	gnomAD
TCGA novel	1112	T>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs376838500	1115	R>C		No	ESP ExAC TOPMed gnomAD
rs376838500	1115	R>S		No	ESP ExAC TOPMed gnomAD
rs1665051085	1117	D>V		No	TOPMed
rs767311258	1118	E>D		No	ExAC TOPMed
rs1665050653	1119	F>S		No	TOPMed
rs1665050556	1121	F>L		No	TOPMed
COSM4918621	1124	N>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1665050377 TCGA novel	1125	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
TCGA novel	1127	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1665050077	1128	S>C		No	TOPMed
rs762222945	1133	N>D		No	ExAC gnomAD
rs774908583	1134	D>H		No	ExAC TOPMed
rs774908583	1134	D>N		No	ExAC TOPMed
TCGA novel	1134	D>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1021321286	1135	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1665049361	1138	I>L		No	TOPMed
rs1275950605	1138	I>N		No	TOPMed gnomAD
rs1275950605	1138	I>T		No	TOPMed gnomAD
rs1665049128	1139	Y>C		No	TOPMed
rs769258992	1141	P>S		No	ExAC gnomAD
rs763437554	1142	N>D		No	ExAC gnomAD
rs1665048862	1142	N>S		No	TOPMed
rs1665048667	1143	P>R		No	Ensembl
rs530930724	1143	P>S		No	1000Genomes
rs1229972089	1144	T>I		No	TOPMed gnomAD
rs1229972089	1144	T>N		No	TOPMed gnomAD
COSM4836127	1146	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs747914606	1148	L>F		No	ExAC TOPMed gnomAD
rs1401301292	1152	G>A		No	gnomAD
TCGA novel	1152	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1153	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1154	L>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1665047229	1155	D>A		No	TOPMed
rs1665047038	1156	Q>H		No	Ensembl
rs1287207073	1159	G>E		No	gnomAD
rs1665046940	1159	G>R		No	Ensembl
rs754901668	1160	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1371291996	1161	P>S		No	gnomAD
rs1665046387	1162	I>V		No	TOPMed
rs780050441	1163	I>N		No	ExAC gnomAD
COSM903243	1165	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs868399419	1166	G>D		No	Ensembl
rs1271274717	1167	K>E		No	TOPMed gnomAD
rs1271274717	1167	K>Q		No	TOPMed gnomAD
rs1665019543	1168	N>K		No	TOPMed
rs776687464	1168	N>T		No	ExAC gnomAD
rs1357294644	1169	L>F		No	gnomAD
rs1010289092	1169	L>H		No	TOPMed
rs1286220850	1170	C>S		No	gnomAD
COSM3864350	1172	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1374458653	1172	P>S		No	gnomAD
rs1665018847	1173	A>P		No	TOPMed gnomAD
rs760753880	1175	G>E		No	ExAC gnomAD
rs376159010	1176	G>E		No	ESP ExAC TOPMed gnomAD
rs1402413866	1177	A>T		No	TOPMed gnomAD
rs772367876	1177	A>V		No	ExAC TOPMed gnomAD
rs1665018063	1178	K>R		No	Ensembl
rs1352499915	1180	N>I		No	TOPMed gnomAD
TCGA novel	1181	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1045858813	1182	T>A		No	TOPMed
rs1665017474	1184	L>I		No	TOPMed
rs1055010629	1185	I>V		No	Ensembl
rs1438203665	1186	G>R		No	TOPMed gnomAD
rs1380008634	1187	E>D		No	gnomAD
rs745858761	1189	P>A		No	ExAC gnomAD
rs745858761	1189	P>S		No	ExAC gnomAD
rs745858761	1189	P>T		No	ExAC gnomAD
rs1459449176	1191	A>V		No	gnomAD
rs1220895478	1192	V>A		No	gnomAD
rs554841144	1192	V>I		No	gnomAD
rs554841144	1192	V>L		No	gnomAD
rs371818683 RCV001361162	1194	V>I		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1293472788	1196	E>K		No	TOPMed gnomAD
rs1293472788	1196	E>Q		No	TOPMed gnomAD
rs1665015060	1198	Q>*		No	gnomAD
rs752971905	1199	L>I		No	ExAC gnomAD
rs1378994323 RCV001876321	1202	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs766873065	1203	P>L		No	ExAC TOPMed gnomAD
rs766873065 COSM3728236	1203	P>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1665014486	1203	P>S		No	TOPMed gnomAD
rs1435009041	1204	P>R		No	TOPMed
rs1350018389	1205	N>S		No	TOPMed gnomAD
COSM3864349 rs773331988	1206	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1359530306	1207	T>I		No	gnomAD
rs762166105 COSM1221254	1208	G>R	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1423685973	1209	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs775138980	1212	V>L		No	ExAC gnomAD
rs1488059154	1213	M>T		No	gnomAD
rs142056909	1213	M>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1383110765	1215	H>R		No	TOPMed gnomAD
rs982135194	1216	V>M		No	gnomAD
rs1258098326	1217	G>S		No	gnomAD
rs1317847731	1218	G>E		No	TOPMed gnomAD
rs374725426	1218	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs374725426	1218	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs766331799	1219	M>I		No	ExAC TOPMed gnomAD
rs1381868342	1220	V>M		No	gnomAD
rs1329745282	1221	F>Y		No	gnomAD
rs866518301	1222	S>L		No	Ensembl
rs1401698538	1223	P>S		No	gnomAD
rs140111660 COSM4027688	1225	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs1664994535	1225	S>P		No	gnomAD
rs140111660	1225	S>W		No	ESP ExAC TOPMed gnomAD
rs1032587082	1226	V>L		No	Ensembl
rs773780752	1228	V>I		No	ExAC gnomAD
rs759686550	1229	I>F		No	ExAC gnomAD
rs749000102	1229	I>N		No	ExAC gnomAD
rs759686550	1229	I>V		No	ExAC gnomAD
rs1176581709	1230	S>A		No	gnomAD
rs1664993606	1231	D>E		No	TOPMed
rs1571856403	1235	T>P		No	Ensembl
rs1571856394	1236	L>R		No	Ensembl
rs150042454 RCV001987315	1236	L>V		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2102323427	1238	A>S		No	Ensembl
rs1231270213	1239	I>V		No	gnomAD
rs1014069989	1240	V>A		No	TOPMed
rs746253674	1240	V>F		No	ExAC TOPMed gnomAD
COSM1560304 rs746253674	1240	V>I	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1161067673	1241	S>N		No	Ensembl
rs375995867	1243	A>E		No	ESP ExAC TOPMed gnomAD
rs757756682	1243	A>T		No	ExAC TOPMed gnomAD
rs375995867	1243	A>V		No	ESP ExAC TOPMed gnomAD
TCGA novel	1244	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1664991998	1244	A>T		No	gnomAD
rs201310196	1245	G>S		No	1000Genomes ExAC gnomAD
rs368220019	1246	G>S		No	ESP ExAC TOPMed gnomAD
rs1390035324	1247	S>C		No	gnomAD
rs1459603621	1249	L>P		No	gnomAD
rs1459603621	1249	L>R		No	gnomAD
rs767465070	1250	L>F		No	ExAC TOPMed gnomAD
rs767465070	1250	L>I		No	ExAC TOPMed gnomAD
rs767465070	1250	L>V		No	ExAC TOPMed gnomAD
rs778867694	1251	I>L		No	TOPMed
rs778867694	1251	I>V		No	TOPMed
rs773900002	1253	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs775088776	1256	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1664989788	1257	L>F		No	TOPMed
rs1208138063	1261	K>N		No	TOPMed gnomAD
rs375415301	1262	R>C		No	ExAC gnomAD
rs773902890	1262	R>H		No	TOPMed gnomAD
rs773902890	1262	R>L		No	TOPMed gnomAD
rs375415301	1262	R>S		No	ExAC gnomAD
rs771462468	1263	K>E		No	ExAC gnomAD
rs771462468	1263	K>Q		No	ExAC gnomAD
rs1262882530	1265	R>G		No	gnomAD
rs747525104	1265	R>Q		No	ExAC TOPMed gnomAD
rs758482263	1273	R>Q		No	ExAC TOPMed gnomAD
rs778435254	1273	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1248076128	1276	M>T		No	TOPMed
COSM903241	1277	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3943400 rs1664987980	1278	M>I	ovary [Cosmic]	No	cosmic curated Ensembl
rs1376686047	1278	M>L		No	gnomAD
rs1376686047 RCV001983445	1278	M>V		No	ClinVar dbSNP gnomAD
rs201640497	1279	D>N		No	Ensembl
rs868709697	1280	N>S		No	TOPMed
COSM1338483 rs1360862107	1284	R>C	large_intestine [Cosmic]	No	cosmic curated TOPMed gnomAD
rs988855659 COSM125450	1284	R>H	upper_aerodigestive_tract [Cosmic]	No	cosmic curated TOPMed gnomAD
rs1377022266	1286	A>G		No	gnomAD
TCGA novel	1286	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1288	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1290	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1198925535	1291	E>D		No	gnomAD
rs1664935791	1292	A>D		No	Ensembl
rs1415505781	1294	A>D		No	TOPMed gnomAD
rs1256800849	1294	A>S		No	gnomAD
rs372372428 COSM209707	1298	T>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs753362143	1301	N>K		No	ExAC TOPMed gnomAD
rs1664934799	1302	E>K		No	TOPMed gnomAD
rs1339713723	1303	L>*		No	gnomAD
rs1339713723	1303	L>S		No	gnomAD
rs1448461168	1304	T>A		No	TOPMed
COSM4027687	1308	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs376434693	1309	R>C		No	ESP ExAC gnomAD
rs376434693	1309	R>G		No	ESP ExAC gnomAD
COSM1663582 RCV001984568 rs572241200	1309	R>H	kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs372170108	1312	I>V		No	ESP ExAC TOPMed gnomAD
rs774938143	1313	P>L		No	ExAC gnomAD
rs143907032	1313	P>S		No	ESP TOPMed gnomAD
rs1185841682	1316	D>E		No	gnomAD
COSM5845317 rs371220095	1318	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs199550486	1318	R>H		No	TOPMed gnomAD
rs371220095	1318	R>S		No	ESP ExAC TOPMed gnomAD
rs1285914965	1319	T>N		No	TOPMed
rs1664932575	1320	Y>H		No	TOPMed
rs770107131	1321	A>S		No	ExAC gnomAD
rs770107131	1321	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs777615301	1322	M>I		No	ExAC TOPMed gnomAD
rs2102320540	1322	M>L		No	Ensembl
rs1357363678	1322	M>T		No	gnomAD
COSM903240 rs758315833	1323	R>*	Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs758315833	1323	R>G		No	ExAC TOPMed gnomAD
RCV001932990 rs374038859	1323	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs995889959 COSM116789	1327	P>L	ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1404349314	1329	I>V		No	gnomAD
rs1438269115	1330	E>D		No	gnomAD
rs750812212	1330	E>K		No	ExAC gnomAD
rs750812212	1330	E>Q		No	ExAC gnomAD
rs1571854372	1331	D>A		No	Ensembl
rs1664930635	1331	D>Y		No	TOPMed
rs1571854357	1332	H>P		No	Ensembl
rs1380220910	1332	H>Y		No	gnomAD
rs1664929976	1333	P>A		No	TOPMed
rs1664929871	1333	P>L		No	TOPMed
rs767936962	1334	V>I		No	ExAC TOPMed gnomAD
rs774681134 COSM532498	1336	R>W	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1351313250	1338	L>M		No	TOPMed gnomAD
rs1472817684 COSM5911470	1339	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
COSM4902330	1340	V>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs961799227	1340	V>I		No	Ensembl
rs920203474	1341	Q>E		No	TOPMed gnomAD
rs1424721738	1341	Q>P		No	TOPMed gnomAD
rs1553272777	1342	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs974253087	1343	N>S		No	Ensembl
rs201000832	1344	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs1558160677	1346	Q>H		No	TOPMed
rs1461715129	1347	H>N		No	TOPMed gnomAD
rs757014612	1347	H>Q		No	ExAC TOPMed gnomAD
rs1461715129	1347	H>Y		No	TOPMed gnomAD
rs764579780	1348	V>L		No	ExAC TOPMed gnomAD
rs764579780	1348	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1005531910	1349	E>G		No	Ensembl
rs1017006469	1349	E>Q		No	Ensembl
TCGA novel	1353	K>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1664898186	1354	L>F		No	TOPMed
rs1319526254	1355	F>C		No	TOPMed gnomAD
rs753178777	1356	A>S		No	ExAC gnomAD
rs1377360305	1357	Q>*		No	gnomAD
rs765761827	1357	Q>P		No	ExAC gnomAD
rs370069188	1359	I>V		No	ESP ExAC TOPMed gnomAD
rs776738211	1360	N>K		No	ExAC gnomAD
rs2102318964	1361	N>S		No	Ensembl
TCGA novel	1362	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1465200379	1362	K>R		No	TOPMed gnomAD
rs1664897034	1363	V>M		No	TOPMed
rs761024286	1367	T>A		No	ExAC TOPMed gnomAD
rs768438426	1370	R>C		No	ExAC gnomAD
rs201132484 COSM1290102	1370	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1664896340	1371	T>I		No	Ensembl
rs775522055	1372	L>V		No	ExAC TOPMed gnomAD
rs769902149	1376	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs895987183 COSM1338482	1376	R>H	Variant assessed as Somatic; MODERATE impact. pancreas large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
COSM1320519	1377	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1338481 rs1267243406	1381	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
COSM1338480 rs745341868	1381	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs140676022	1382	D>N		No	ESP ExAC TOPMed gnomAD
rs777291583	1383	R>G		No	ExAC TOPMed gnomAD
COSM1928818 rs758747529	1383	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs777291583	1383	R>W		No	ExAC TOPMed gnomAD
rs1161329458 COSM3803740	1384	G>D	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated gnomAD
rs1161329458	1384	G>V		No	gnomAD
rs1478992537	1385	N>S		No	TOPMed
rs760375488	1386	V>M		No	TOPMed gnomAD
rs2102318799	1390	I>M		No	Ensembl
rs1664892776	1391	M>T		No	TOPMed gnomAD
rs144005934	1391	M>V		No	1000Genomes ESP ExAC TOPMed gnomAD
RCV001904896 rs772843861	1392	T>I		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs760681914	1393	G>R		No	ExAC gnomAD
rs760681914	1393	G>S		No	ExAC gnomAD
rs1664892399	1393	G>V		No	Ensembl
rs1571853219	1395	Q>R		No	Ensembl
rs771610537 COSM1338479	1397	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1275999825	1397	R>H		No	TOPMed gnomAD
rs1487286192	1401	A>V		No	gnomAD
rs1290626993	1402	T>A		No	gnomAD
rs1362108020	1404	V>I		No	gnomAD
rs1238874917	1406	K>R		No	gnomAD
rs746529530	1407	Q>R		No	ExAC
rs777432020	1412	L>F		No	ExAC gnomAD
rs748477176	1414	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs779315635	1414	D>V		No	ExAC TOPMed gnomAD
rs1209660785	1415	K>*		No	gnomAD
rs1304044838	1416	N>D		No	gnomAD
rs1664890277	1418	E>K		No	TOPMed
TCGA novel	1418	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM463870	1420	K>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs755464834	1421	N>T		No	ExAC gnomAD
rs1571853126	1422	H>P		No	Ensembl
rs1367137434	1422	H>Y		No	gnomAD
rs1364364807	1426	L>P		No	gnomAD
rs747671301	1428	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs1664817165	1430	T>I		No	gnomAD
rs1571850867	1434	A>T		No	Ensembl
rs1226397476	1435	E>K		No	TOPMed gnomAD
rs1664816594	1437	M>V		No	Ensembl
rs2102315052	1440	N>D		No	Ensembl
rs962138557	1440	N>S		No	TOPMed gnomAD
rs1405289481	1441	W>L		No	TOPMed gnomAD
rs1664816154	1442	F>L		No	TOPMed
RCV001973858 VAR_059557 rs12240051	1443	A>T		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs868177938	1444	F>C		No	Ensembl
rs1166900398	1445	L>I		No	gnomAD
rs757428762	1446	L>P		No	ExAC gnomAD
rs1664814920	1449	F>L		No	TOPMed
rs559463221	1453	C>W		No	1000Genomes ExAC TOPMed gnomAD
rs1278426831	1454	A>G		No	gnomAD
rs767473837	1454	A>S		No	ExAC TOPMed gnomAD
rs767473837	1454	A>T		No	ExAC TOPMed gnomAD
rs1300967937	1459	F>L		No	gnomAD
rs1571850379	1460	M>V		No	Ensembl
rs927727464	1463	C>R		No	TOPMed gnomAD
rs1165894813	1463	C>S		No	gnomAD
rs1407954368	1468	Q>L		No	gnomAD
COSM4414242 rs1421764851	1472	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
TCGA novel	1475	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1664800260	1477	I>T		No	TOPMed
rs1664800395	1477	I>V		No	Ensembl
rs375437589	1478	T>M		No	ESP ExAC TOPMed gnomAD
rs1571850309	1478	T>P		No	Ensembl
rs1269275813 COSM383762	1480	E>K	lung Variant assessed as Somatic; MODERATE impact. large_intestine haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1571850277	1481	A>P		No	Ensembl
TCGA novel	1481	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1328928630	1482	R>C		No	TOPMed
rs1435322271	1482	R>H		No	TOPMed gnomAD
rs149856641	1484	S>F		No	ESP ExAC TOPMed gnomAD
rs771611862	1487	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs915178012	1489	K>Q		No	Ensembl
rs747049551	1491	I>S		No	ExAC gnomAD
rs370843429	1492	R>P		No	ESP ExAC TOPMed gnomAD
rs370843429	1492	R>Q		No	ESP ExAC TOPMed gnomAD
rs147239739	1492	R>W		No	ESP ExAC TOPMed gnomAD
rs1429109431	1493	Q>*		No	gnomAD
rs1664796859 COSM1579714	1493	Q>H	central_nervous_system [Cosmic]	No	cosmic curated TOPMed
rs1359874855	1493	Q>R		No	TOPMed gnomAD
TCGA novel	1495	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM6123915	1496	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs573717013	1496	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs139968784	1499	T>A		No	ESP ExAC TOPMed gnomAD
rs1427242740	1499	T>N		No	TOPMed gnomAD
rs139968784	1499	T>P		No	ESP ExAC TOPMed gnomAD
TCGA novel	1500	L>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
RCV002027415 rs1175828904	1500	L>P		No	ClinVar dbSNP gnomAD
rs1175828904	1500	L>R		No	gnomAD
rs1245684387	1501	I>L		No	TOPMed
rs1664767533	1501	I>S		No	TOPMed gnomAD
rs1664767266	1504	C>S		No	gnomAD
rs1664767266	1504	C>Y		No	gnomAD
rs752304078	1505	V>A		No	ExAC gnomAD
RCV002049352 rs200203717	1505	V>I		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1558158668	1506	N>K		No	Ensembl
TCGA novel	1507	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1005245951	1507	P>R		No	TOPMed gnomAD
rs1411766704	1507	P>S		No	gnomAD
rs754721729	1508	D>G		No	ExAC
rs1274126534	1509	N>K		No	TOPMed gnomAD
rs1421893576	1509	N>Y		No	TOPMed
rs754238798	1510	E>D		No	ExAC TOPMed gnomAD
rs1389563847	1510	E>K		No	gnomAD
rs888007031	1512	S>G		No	TOPMed gnomAD
rs766788877	1512	S>N		No	ExAC gnomAD
rs888007031	1512	S>R		No	TOPMed gnomAD
rs773813078	1516	P>S		No	ExAC gnomAD
rs773813078	1516	P>T		No	ExAC gnomAD
rs768090942	1517	V>M		No	ExAC TOPMed gnomAD
rs761776648	1519	V>L		No	ExAC TOPMed gnomAD
rs761776648	1519	V>M		No	ExAC TOPMed gnomAD
rs1664764291	1520	L>F		No	Ensembl
rs1355384472	1524	T>A		No	gnomAD
RCV002046562 rs774557845	1525	I>T		No	ClinVar ExAC dbSNP gnomAD
rs756553656	1526	T>A		No	Ensembl
rs1664763606	1528	V>I		No	gnomAD
rs749454869	1529	K>E		No	ExAC gnomAD
COSM903235 rs1664763353	1533	L>I	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed gnomAD
rs200603904	1535	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs566013352 COSM903234	1535	A>V	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
RCV001511721 rs34457681	1536	V>M		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1233171503	1537	Y>C		No	TOPMed gnomAD
rs758405600	1538	K>M		No	ExAC gnomAD
rs1664762584	1539	N>D		No	Ensembl
COSM903233	1540	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1664762111	1543	S>C		No	TOPMed
rs756497678	1545	R>G		No	ExAC gnomAD
rs996532375	1545	R>L		No	gnomAD
rs996532375	1545	R>Q		No	gnomAD
COSM3803738 rs756497678	1545	R>W	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs750867318	1546	P>L		No	ExAC TOPMed gnomAD
rs1403352718	1547	R>M		No	gnomAD
rs762442078	1547	R>S		No	ExAC gnomAD
rs1664761075	1549	V>A		No	Ensembl
rs1370161340	1549	V>M		No	TOPMed gnomAD
rs1156305063	1550	D>N		No	gnomAD
rs763055170	1551	M>I		No	ExAC TOPMed gnomAD
rs1053513158	1551	M>L		No	TOPMed gnomAD
rs764170708	1551	M>T		No	ExAC TOPMed gnomAD
rs1053513158	1551	M>V		No	TOPMed gnomAD
rs1664745691	1555	W>*		No	Ensembl
rs1332534760	1556	R>C		No	gnomAD
rs200636622	1556	R>L		No	ESP ExAC TOPMed gnomAD
rs372256678	1557	Q>H		No	ESP ExAC TOPMed gnomAD
rs768762267	1558	G>A		No	ExAC TOPMed gnomAD
rs768762267	1558	G>D		No	ExAC TOPMed gnomAD
rs768762267	1558	G>V		No	ExAC TOPMed gnomAD
rs199754906 RCV001972907	1559	R>Q		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1032133067	1559	R>W		No	TOPMed gnomAD
rs779769484	1561	A>S		No	ExAC gnomAD
rs779769484	1561	A>T		No	ExAC gnomAD
rs769442977	1562	R>P		No	ExAC TOPMed gnomAD
rs769442977	1562	R>Q		No	ExAC TOPMed gnomAD
rs1467264768	1562	R>W		No	gnomAD
rs1664744418	1563	V>F		No	TOPMed gnomAD
rs780741492	1564	V>M		No	ExAC TOPMed gnomAD
COSM1338477	1566	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs373585860	1571	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA gnomAD
rs1664743925	1572	T>I		No	Ensembl
rs751921154	1574	I>T		No	ExAC gnomAD
TCGA novel	1577	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1263833032	1580	R>G		No	TOPMed gnomAD
rs527290178	1580	R>Q		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	1580	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1664743240	1585	M>I		No	Ensembl
rs1664743303	1585	M>V		No	TOPMed
rs1664743049	1586	H>Q		No	TOPMed gnomAD
rs752756191	1586	H>R		No	ExAC gnomAD
rs1226480004	1587	Y>S		No	gnomAD
rs1664614437	1589	V>G		No	gnomAD
rs758771333	1589	V>L		No	ExAC TOPMed gnomAD
rs151296962	1591	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs779425180	1592	R>K		No	ExAC
rs1424555327	1592	R>W		No	gnomAD
rs200900362 RCV001969341	1593	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
COSM463869	1594	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs766591893	1594	V>M		No	ExAC TOPMed gnomAD
TCGA novel	1595	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1182718997	1596	A>V		No	gnomAD
rs1571844445	1597	L>R		No	Ensembl
rs1571844439	1598	V>A		No	Ensembl
rs1664613151	1598	V>I		No	gnomAD
rs1002890525	1601	Q>*		No	gnomAD
rs1002890525	1601	Q>K		No	gnomAD
rs1571844418	1602	T>P		No	Ensembl
rs1571844404	1603	S>P		No	Ensembl
rs763915120	1604	S>F		No	ExAC
rs762873099	1607	I>T		No	ExAC gnomAD
rs1176189302	1607	I>V		No	TOPMed gnomAD
rs775522018	1609	A>P		No	ExAC TOPMed gnomAD
rs775522018	1609	A>T		No	ExAC TOPMed gnomAD
rs1229970650	1609	A>V		No	gnomAD
rs1664611597	1610	S>C		No	Ensembl
rs1664611496	1611	A>T		No	TOPMed
rs765317026	1611	A>V		No	ExAC gnomAD
rs759057955	1612	S>G		No	ExAC gnomAD
rs947658877	1612	S>R		No	Ensembl
rs1377531429	1614	S>A		No	TOPMed gnomAD
rs370850148	1615	R>P		No	ESP ExAC TOPMed gnomAD
rs370850148	1615	R>Q		No	ESP ExAC TOPMed gnomAD
RCV001900513 rs770608043	1615	R>W		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs748532278	1616	T>M		No	ExAC TOPMed gnomAD
rs147756054	1616	T>S		No	ESP ExAC TOPMed
COSM3803737	1617	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1664610377	1617	S>P		No	TOPMed
rs1399473092	1619	S>G		No	TOPMed gnomAD
rs1384298446	1621	Y>C		No	gnomAD
rs780055079	1622	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1664572391	1625	F>C		No	Ensembl
rs745991742	1625	F>L		No	ExAC gnomAD
rs781531945	1626	R>K		No	ExAC gnomAD
rs1298912304	1627	Y>C		No	gnomAD
rs1558155584	1628	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1664571350	1631	P>S		No	TOPMed
rs1361152426	1632	D>N		No	TOPMed gnomAD
rs1177958966	1633	S>R		No	gnomAD
rs377729868	1635	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201528756	1635	R>W		No	1000Genomes ESP ExAC gnomAD
rs1664570692	1636	S>F		No	TOPMed gnomAD
rs760158975	1637	R>P		No	ExAC TOPMed gnomAD
rs760158975	1637	R>Q		No	ExAC TOPMed gnomAD
rs1240677586	1638	A>D		No	gnomAD
rs749977479	1639	P>L		No	ExAC TOPMed gnomAD
rs1664569361	1640	M>I		No	TOPMed
rs1238912594	1642	T>A		No	gnomAD
rs761512286	1644	D>E		No	ExAC gnomAD
rs1341814975	1646	E>K		No	gnomAD
rs1424234965	1648	G>R		No	TOPMed gnomAD
rs1231193145	1649	V>F		No	gnomAD
rs146570184	1651	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
RCV000882443 rs146570184	1651	V>M		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1381603248	1652	W>*		No	gnomAD
TCGA novel	1653	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs763396411	1655	V>A		No	ExAC TOPMed gnomAD
rs1441760365	1655	V>L		No	gnomAD
rs1441760365	1655	V>M		No	gnomAD
rs1354196914 COSM4027686	1657	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs372814439	1658	H>Y		No	ESP ExAC gnomAD
rs1383351167	1659	D>N		No	gnomAD
rs1664566337	1661	G>D		No	TOPMed gnomAD
rs141503079	1661	G>S		No	ESP ExAC TOPMed gnomAD
rs771144154	1663	Q>R		No	ExAC gnomAD
rs879037213	1666	G>V		No	Ensembl
rs747157643	1668	R>Q		No	ExAC TOPMed gnomAD
rs2102303584 COSM903232	1668	R>W	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs754683785	1669	G>D		No	ExAC gnomAD
rs778091609	1669	G>S		No	ExAC TOPMed gnomAD
COSM6060814 COSM532501 rs754683785	1669	G>V	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1386559615	1670	S>T		No	gnomAD
rs1222971136 COSM302957	1675	E>K	central_nervous_system [Cosmic]	No	cosmic curated gnomAD
COSM3803736 rs1272676141	1679	T>I	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
COSM209705 rs1664564307	1680	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs749922415 COSM167311	1680	R>W	large_intestine [Cosmic]	No	cosmic curated ExAC gnomAD
COSM1320520	1681	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs761344374	1682	L>P		No	ExAC gnomAD
rs751123015	1684	T>S		No	ExAC TOPMed gnomAD
COSM3400258	1686	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1664510679	1687	T>I		No	gnomAD
COSM4027685	1690	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs773411215	1694	D>A		No	ExAC gnomAD
rs760643170	1694	D>H		No	ExAC TOPMed gnomAD
rs760643170	1694	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1664509895	1695	L>V		No	TOPMed gnomAD
rs772173163	1698	T>I		No	ExAC gnomAD
rs1664509666	1701	S>I		No	1000Genomes
rs1664509666	1701	S>N		No	1000Genomes
rs769539300	1705	R>G		No	ExAC TOPMed gnomAD
rs745710209	1705	R>Q		No	ExAC gnomAD
rs769539300 COSM903230	1705	R>W	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs2102300535	1706	G>D		No	Ensembl
rs570509541	1708	A>T		No	1000Genomes ExAC gnomAD
rs1664508805	1709	L>H		No	TOPMed gnomAD
COSM133999	1710	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs201886384	1710	P>R		No	1000Genomes ExAC gnomAD
rs551923961	1710	P>S		No	1000Genomes ExAC gnomAD
rs755376039	1712	A>P		No	ExAC TOPMed gnomAD
rs755376039	1712	A>T		No	ExAC TOPMed gnomAD
rs146748679	1713	I>V		No	ESP
rs878901538	1716	M>I		No	Ensembl
rs1467955380	1716	M>L		No	TOPMed gnomAD
rs1467955380	1716	M>V		No	TOPMed gnomAD
TCGA novel	1718	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1039838045	1721	D>V		No	Ensembl
rs1664507104 TCGA novel	1722	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
TCGA novel	1724	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs766991936	1725	D>E		No	ExAC TOPMed gnomAD
rs1664506672	1725	D>H		No	Ensembl
COSM903229	1726	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1571840629	1726	R>K		No	gnomAD
rs1664506273	1727	H>D		No	Ensembl
rs1664506273 RCV001866455	1727	H>N		No	ClinVar Ensembl dbSNP
rs770760535	1728	S>N		No	ExAC TOPMed gnomAD
rs1664506009	1729	I>M		No	Ensembl
TCGA novel	1733	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs368772733	1735	R>Q		No	ESP ExAC TOPMed gnomAD
rs761831822	1735	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2102300299	1736	H>Y		No	Ensembl
TCGA novel	1738	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs759320784	1740	S>I		No	ExAC TOPMed gnomAD
rs1664505183	1741	N>S		No	TOPMed gnomAD
rs1339496895	1742	C>S		No	gnomAD
rs1339496895	1742	C>Y		No	gnomAD
rs752073315	1743	L>I		No	ExAC gnomAD
rs764091521	1746	R>C		No	ExAC gnomAD
rs758502236	1746	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs758502236	1746	R>P		No	ExAC gnomAD
rs752862705	1748	W>L		No	ExAC TOPMed gnomAD
rs765423254	1750	N>H		No	ExAC gnomAD
rs1419361117	1750	N>S		No	TOPMed gnomAD
rs765423254	1750	N>Y		No	ExAC gnomAD
rs142549025	1751	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM3482808	1752	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs200233292	1753	K>R		No	1000Genomes
rs761787575	1754	N>K		No	ExAC TOPMed gnomAD
rs886115913	1754	N>T		No	Ensembl
rs1664422556	1755	P>A		No	TOPMed gnomAD
rs1664422556	1755	P>S		No	TOPMed gnomAD
rs1459052375	1756	Q>*		No	TOPMed gnomAD
TCGA novel	1757	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs768243519	1757	F>S		No	ExAC gnomAD
rs1287078688	1758	V>M		No	TOPMed gnomAD
rs775187406	1760	D>H		No	ExAC gnomAD
rs371806936	1762	H>Q		No	ESP ExAC TOPMed gnomAD
rs1233689310	1763	K>N		No	TOPMed
rs1664421849	1763	K>R		No	Ensembl
COSM3750845	1765	S>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4027683	1765	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1294962101	1766	I>T		No	TOPMed gnomAD
rs1195434042	1766	I>V		No	gnomAD
rs1396680734	1767	T>M		No	TOPMed gnomAD
rs1571837809	1767	T>P		No	Ensembl
rs1246911443	1768	D>A		No	gnomAD
rs778270546	1769	A>D		No	ExAC gnomAD
rs747471594	1769	A>P		No	ExAC TOPMed gnomAD
TCGA novel	1769	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs747471594	1769	A>T		No	ExAC TOPMed gnomAD
rs752817633	1770	C>*		No	ExAC TOPMed gnomAD
rs758447103	1770	C>F		No	ExAC TOPMed gnomAD
rs758447103	1770	C>S		No	ExAC TOPMed gnomAD
rs548313450	1771	L>P		No	Ensembl
rs765496450	1773	V>L		No	ExAC gnomAD
rs1664420365	1777	T>N		No	Ensembl
rs1213675241	1779	M>I		No	TOPMed gnomAD
rs1664420116	1779	M>R		No	gnomAD
rs754106781	1779	M>V		No	ExAC gnomAD
rs1242063394	1782	C>Y		No	TOPMed gnomAD
rs1664419851	1783	S>L		No	gnomAD
rs1413639768	1784	T>A		No	gnomAD
rs1425610145	1784	T>M		No	TOPMed gnomAD
rs764176591	1786	E>K		No	ExAC TOPMed gnomAD
rs764176591	1786	E>Q		No	ExAC TOPMed gnomAD
rs374714348	1788	R>Q		No	ESP TOPMed gnomAD
rs1388987454	1788	R>W		No	gnomAD
rs1408214217	1790	G>S		No	TOPMed
rs1571837647	1792	D>A		No	Ensembl
rs558936902	1792	D>N		No	1000Genomes ExAC gnomAD
rs558936902	1792	D>Y		No	1000Genomes ExAC gnomAD
TCGA novel	1793	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1282953490	1793	S>Y		No	gnomAD
rs1664418283	1794	P>A		No	gnomAD
rs1664418283	1794	P>S		No	gnomAD
rs1571837624	1795	S>P		No	Ensembl
rs928965371	1798	L>M		No	1000Genomes TOPMed gnomAD
rs1664417918	1800	Y>C		No	TOPMed
rs771234425	1801	A>T		No	ExAC gnomAD
rs1664417721	1803	D>G		No	gnomAD
rs1415394536	1809	S>T		No	TOPMed gnomAD
rs1314610914	1810	W>*		No	TOPMed gnomAD
rs778219098	1811	V>M		No	ExAC gnomAD
rs748249858	1812	E>D		No	ExAC TOPMed gnomAD
rs1413885123	1813	R>K		No	TOPMed gnomAD
TCGA novel	1814	Y>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1229255443	1814	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1307895399	1814	Y>H		No	TOPMed gnomAD
TCGA novel	1815	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs772441946	1815	Y>F		No	ExAC gnomAD
rs370357486	1816	A>T		No	ESP ExAC TOPMed gnomAD
rs780393666	1819	A>T		No	ExAC TOPMed gnomAD
rs1179409338	1819	A>V		No	gnomAD
rs913228761	1821	L>F		No	Ensembl
rs1664394610	1825	S>G		No	TOPMed
rs1664394474	1828	D>N		No	TOPMed
rs1571836751	1829	M>L		No	Ensembl
rs1571836751	1829	M>V		No	Ensembl
rs1571836741	1832	Y>C		No	gnomAD
rs1571836741	1832	Y>S		No	gnomAD
rs750685623	1834	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs970655950	1835	E>G		No	TOPMed gnomAD
rs1266409460	1835	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1464836334	1836	Q>K		No	TOPMed
rs1470830382	1837	S>C		No	gnomAD
rs758243795	1838	R>C		No	ExAC gnomAD
COSM1338476 rs563402733	1838	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs563402733	1838	R>L		No	1000Genomes ExAC gnomAD
rs1326125985	1839	L>V		No	TOPMed gnomAD
rs758935682	1841	A>S		No	ExAC TOPMed gnomAD
rs758935682 COSM378907	1841	A>T	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs139305640	1842	V>M		No	ESP ExAC TOPMed gnomAD
COSM4843220	1843	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1396033177	1845	N>T		No	TOPMed gnomAD
rs2102294890	1846	M>R		No	Ensembl
rs1664392530	1846	M>V		No	Ensembl
rs1156447113	1848	S>G		No	gnomAD
rs1558152466	1849	A>D		No	Ensembl
rs762260520	1851	N>K		No	ExAC gnomAD
rs141837222	1851	N>S		No	ESP ExAC TOPMed gnomAD
rs1431939581	1854	Y>C		No	gnomAD
TCGA novel	1854	Y>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1267337647	1855	S>T		No	gnomAD
rs1664391225 COSM1601597	1856	Y>C	liver [Cosmic]	No	cosmic curated Ensembl
rs1664391005	1858	S>G		No	TOPMed gnomAD
rs1234187208	1861	S>R		No	TOPMed
rs1275227320	1863	E>K		No	TOPMed
rs1664372727	1865	I>F		No	Ensembl
rs1482128484	1865	I>T		No	gnomAD
rs762054923 RCV002028640	1866	G>R		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs763449314	1867	A>S		No	ExAC gnomAD
rs763449314	1867	A>T		No	ExAC gnomAD
rs1664371878	1867	A>V		No	TOPMed
rs1227105369	1869	E>K		No	gnomAD
rs1227105369	1869	E>Q		No	gnomAD
TCGA novel	1869	E>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1571835947	1872	E>K		No	Ensembl
rs1326522464	1873	Q>*		No	gnomAD
rs1326522464	1873	Q>K		No	gnomAD
rs201356824 RCV001976164	1873	Q>L		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs201356824	1873	Q>P		No	1000Genomes ExAC TOPMed gnomAD
rs2102293900	1874	A>T		No	Ensembl
rs573661376	1875	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs573661376	1875	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs745991350	1875	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs778714938 COSM903227	1876	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs747878387 COSM3705454	1876	R>W	liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs146958450	1878	R>L		No	ESP ExAC TOPMed gnomAD
rs146958450	1878	R>Q		No	ESP ExAC TOPMed gnomAD
rs141651654	1878	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs755599576	1880	A>S		No	ExAC gnomAD
rs749975539	1881	Y>C		No	ExAC gnomAD
rs778028493	1881	Y>D		No	gnomAD
rs749975539	1881	Y>F		No	ExAC gnomAD
rs760498636	1882	K>E		No	Ensembl
rs2102293841	1882	K>N		No	Ensembl
TCGA novel	1882	K>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs773324533	1883	V>M		No	Ensembl
rs1487189255	1884	E>G		No	TOPMed
rs767074811	1885	Q>*		No	ExAC gnomAD
rs767074811	1885	Q>E		No	ExAC gnomAD
rs1272317404	1885	Q>H		No	gnomAD
rs1664369245	1887	I>M		No	TOPMed
rs1315230929	1888	N>D		No	TOPMed gnomAD
rs1664369103	1888	N>I		No	TOPMed
COSM209703 rs1252577059	1889	A>V	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA gnomAD
rs1664368757	1890	M>T		No	Ensembl
rs1425846336	1890	M>V		No	TOPMed gnomAD
rs555261832	1892	I>L		No	1000Genomes ExAC TOPMed gnomAD
rs763432664	1892	I>M		No	ExAC TOPMed gnomAD
rs540998412 RCV001901962	1892	I>T		No	ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	1893	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1307913781	1894	S>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1411033225	1894	S>R		No	gnomAD

No associated diseases with O75051

16 regional properties for O75051

Type	Name	Position	InterPro Accession
domain	Sema domain	25 - 508	IPR001627
repeat	Plexin repeat	510 - 559	IPR002165-1
repeat	Plexin repeat	655 - 696	IPR002165-2
repeat	Plexin repeat	804 - 855	IPR002165-3
domain	IPT domain	857 - 952	IPR002909-1
domain	IPT domain	953 - 1038	IPR002909-2
domain	IPT domain	1040 - 1140	IPR002909-3
domain	IPT domain	1142 - 1237	IPR002909-4
domain	Plexin, cytoplasmic RasGAP domain	1311 - 1863	IPR013548
domain	PSI domain	510 - 560	IPR016201-1
domain	PSI domain	655 - 702	IPR016201-2
domain	PSI domain	803 - 856	IPR016201-3
domain	Plexin, TIG domain 1	565 - 654	IPR041019
domain	Plexin, TIG domain 2	708 - 802	IPR041362
domain	Plexin-A2, sema domain	38 - 552	IPR042826
domain	Plexin, cytoplasmic RhoGTPase-binding domain	1485 - 1597	IPR046800

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
semaphorin receptor complex	A stable binary complex of a neurophilin and a plexin, together forming a functional semaphorin receptor.

2 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.
semaphorin receptor activity	Combining with a semaphorin, and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.

12 GO annotations of biological process

Name	Definition
centrosome localization	Any process in which a centrosome is transported to, and/or maintained in, a specific location within the cell.
cerebellar granule cell precursor tangential migration	The early migration of granule cell precursors in which cells move orthogonal to the direction of radial migration and ultimately cover the superficial zone of the cerebellar primordium.
limb bud formation	The process pertaining to the initial formation of a limb bud from unspecified parts. This process begins with the formation of a local condensation of mesenchyme cells within the prospective limb field, and ends when a limb bud is recognizable.
negative regulation of cell adhesion	Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion.
neural tube development	The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium.
pharyngeal system development	The process whose specific outcome is the progression of the pharyngeal system over time, from its formation to the mature structure. The pharyngeal system is a transient embryonic complex that is specific to vertebrates. It comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming
positive regulation of axonogenesis	Any process that activates or increases the frequency, rate or extent of axonogenesis.
regulation of cell migration	Any process that modulates the frequency, rate or extent of cell migration.
regulation of cell shape	Any process that modulates the surface configuration of a cell.
semaphorin-plexin signaling pathway	The series of molecular signals generated as a consequence of a semaphorin receptor (composed of a plexin and a neurophilin) binding to a semaphorin ligand.
semaphorin-plexin signaling pathway involved in axon guidance	Any semaphorin-plexin signaling pathway that is involved in axon guidance.
somitogenesis	The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo.

27 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q769I5	MET	Hepatocyte growth factor receptor	Bos taurus (Bovine)	PR
A0M8S8	MET	Hepatocyte growth factor receptor	Felis catus (Cat) (Felis silvestris catus)	PR
Q04912	MST1R	Macrophage-stimulating protein receptor	Homo sapiens (Human)	EV
P08581	MET	Hepatocyte growth factor receptor	Homo sapiens (Human)	EV
Q9ULL4	PLXNB3	Plexin-B3	Homo sapiens (Human)	SS
Q9UIW2	PLXNA1	Plexin-A1	Homo sapiens (Human)	EV SS
P51805	PLXNA3	Plexin-A3	Homo sapiens (Human)	SS
O15031	PLXNB2	Plexin-B2	Homo sapiens (Human)	SS
O43157	PLXNB1	Plexin-B1	Homo sapiens (Human)	EV SS
Q9HCM2	PLXNA4	Plexin-A4	Homo sapiens (Human)	SS
Q9QY40	Plxnb3	Plexin-B3	Mus musculus (Mouse)	SS
P70208	Plxna3	Plexin-A3	Mus musculus (Mouse)	EV SS
Q3UH93	Plxnd1	Plexin-D1	Mus musculus (Mouse)	SS
Q62190	Mst1r	Macrophage-stimulating protein receptor	Mus musculus (Mouse)	SS
B2RXS4	Plxnb2	Plexin-B2	Mus musculus (Mouse)	SS
Q8CJH3	Plxnb1	Plexin-B1	Mus musculus (Mouse)	SS
Q9QZC2	Plxnc1	Plexin-C1	Mus musculus (Mouse)	SS
Q80UG2	Plxna4	Plexin-A4	Mus musculus (Mouse)	SS
P16056	Met	Hepatocyte growth factor receptor	Mus musculus (Mouse)	PR
P70206	Plxna1	Plexin-A1	Mus musculus (Mouse)	EV SS
P70207	Plxna2	Plexin-A2	Mus musculus (Mouse)	SS
Q2QLE0	MET	Hepatocyte growth factor receptor	Sus scrofa (Pig)	PR
P97523	Met	Hepatocyte growth factor receptor	Rattus norvegicus (Rat)	PR
D3ZPX4	Plxna3	Plexin-A3	Rattus norvegicus (Rat)	SS
D3ZLH5	Plxnb3	Plexin-B3	Rattus norvegicus (Rat)	SS
Q6BEA0	plxna4	Plexin-A4	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
B0S5N4	plxna3	Plexin A3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MEQRRPWPRA	LEVDSRSVVL	LSVVWVLLAP	PAAGMPQFST	FHSENRDWTF	NHLTVHQGTG
70	80	90	100	110	120
AVYVGAINRV	YKLTGNLTIQ	VAHKTGPEED	NKSCYPPLIV	QPCSEVLTLT	NNVNKLLIID
130	140	150	160	170	180
YSENRLLACG	SLYQGVCKLL	RLDDLFILVE	PSHKKEHYLS	SVNKTGTMYG	VIVRSEGEDG
190	200	210	220	230	240
KLFIGTAVDG	KQDYFPTLSS	RKLPRDPESS	AMLDYELHSD	FVSSLIKIPS	DTLALVSHFD
250	260	270	280	290	300
IFYIYGFASG	GFVYFLTVQP	ETPEGVAINS	AGDLFYTSRI	VRLCKDDPKF	HSYVSLPFGC
310	320	330	340	350	360
TRAGVEYRLL	QAAYLAKPGD	SLAQAFNITS	QDDVLFAIFS	KGQKQYHHPP	DDSALCAFPI
370	380	390	400	410	420
RAINLQIKER	LQSCYQGEGN	LELNWLLGKD	VQCTKAPVPI	DDNFCGLDIN	QPLGGSTPVE
430	440	450	460	470	480
GLTLYTTSRD	RMTSVASYVY	NGYSVVFVGT	KSGKLKKIRA	DGPPHGGVQY	EMVSVLKDGS
490	500	510	520	530	540
PILRDMAFSI	DQRYLYVMSE	RQVTRVPVES	CEQYTTCGEC	LSSGDPHCGW	CALHNMCSRR
550	560	570	580	590	600
DKCQQAWEPN	RFAASISQCV	SLAVHPSSIS	VSEHSRLLSL	VVSDAPDLSA	GIACAFGNLT
610	620	630	640	650	660
EVEGQVSGSQ	VICISPGPKD	VPVIPLDQDW	FGLELQLRSK	ETGKIFVSTE	FKFYNCSAHQ
670	680	690	700	710	720
LCLSCVNSAF	RCHWCKYRNL	CTHDPTTCSF	QEGRINISED	CPQLVPTEEI	LIPVGEVKPI
730	740	750	760	770	780
TLKARNLPQP	QSGQRGYECV	LNIQGAIHRV	PALRFNSSSV	QCQNSSYQYD	GMDISNLAVD
790	800	810	820	830	840
FAVVWNGNFI	IDNPQDLKVH	LYKCAAQRES	CGLCLKADRK	FECGWCSGER	RCTLHQHCTS
850	860	870	880	890	900
PSSPWLDWSS	HNVKCSNPQI	TEILTVSGPP	EGGTRVTIHG	VNLGLDFSEI	AHHVQVAGVP
910	920	930	940	950	960
CTPLPGEYII	AEQIVCEMGH	ALVGTTSGPV	RLCIGECKPE	FMTKSHQQYT	FVNPSVLSLN
970	980	990	1000	1010	1020
PIRGPESGGT	MVTITGHYLG	AGSSVAVYLG	NQTCEFYGRS	MSEIVCVSPP	SSNGLGPVPV
1030	1040	1050	1060	1070	1080
SVSVDRAHVD	SNLQFEYIDD	PRVQRIEPEW	SIASGHTPLT	ITGFNLDVIQ	EPRIRVKFNG
1090	1100	1110	1120	1130	1140
KESVNVCKVV	NTTTLTCLAP	SLTTDYRPGL	DTVERPDEFG	FVFNNVQSLL	IYNDTKFIYY
1150	1160	1170	1180	1190	1200
PNPTFELLSP	TGVLDQKPGS	PIILKGKNLC	PPASGGAKLN	YTVLIGETPC	AVTVSETQLL
1210	1220	1230	1240	1250	1260
CEPPNLTGQH	KVMVHVGGMV	FSPGSVSVIS	DSLLTLPAIV	SIAAGGSLLL	IIVIIVLIAY
1270	1280	1290	1300	1310	1320
KRKSRENDLT	LKRLQMQMDN	LESRVALECK	EAFAELQTDI	NELTSDLDRS	GIPYLDYRTY
1330	1340	1350	1360	1370	1380
AMRVLFPGIE	DHPVLRELEV	QGNGQQHVEK	ALKLFAQLIN	NKVFLLTFIR	TLELQRSFSM
1390	1400	1410	1420	1430	1440
RDRGNVASLI	MTGLQGRLEY	ATDVLKQLLS	DLIDKNLENK	NHPKLLLRRT	ESVAEKMLTN
1450	1460	1470	1480	1490	1500
WFAFLLHKFL	KECAGEPLFM	LYCAIKQQME	KGPIDAITGE	ARYSLSEDKL	IRQQIEYKTL
1510	1520	1530	1540	1550	1560
ILNCVNPDNE	NSPEIPVKVL	NCDTITQVKE	KILDAVYKNV	PYSQRPRAVD	MDLEWRQGRI
1570	1580	1590	1600	1610	1620
ARVVLQDEDI	TTKIEGDWKR	LNTLMHYQVS	DRSVVALVPK	QTSSYNIPAS	ASISRTSISR
1630	1640	1650	1660	1670	1680
YDSSFRYTGS	PDSLRSRAPM	ITPDLESGVK	VWHLVKNHDH	GDQKEGDRGS	KMVSEIYLTR
1690	1700	1710	1720	1730	1740
LLATKGTLQK	FVDDLFETLF	STVHRGSALP	LAIKYMFDFL	DEQADRHSIH	DTDVRHTWKS
1750	1760	1770	1780	1790	1800
NCLPLRFWVN	VIKNPQFVFD	IHKGSITDAC	LSVVAQTFMD	SCSTSEHRLG	KDSPSNKLLY
1810	1820	1830	1840	1850	1860
AKDIPSYKSW	VERYYADIAK	LPAISDQDMN	AYLAEQSRLH	AVEFNMLSAL	NEIYSYVSKY
1870	1880	1890
SEELIGALEQ	DEQARRQRLA	YKVEQLINAM	SIES

Descriptions

Annotation based on sequence homology with Q9UIW2

Autoinhibitory domains (AIDs)

Accessory elements

References

Autoinhibited structure

Activated structure

2 structures for O75051

1891 variants for O75051

No associated diseases with O75051

16 regional properties for O75051

Functions

2 GO annotations of cellular component

2 GO annotations of molecular function

12 GO annotations of biological process

27 homologous proteins in AiPD