AiPD: Autoinhibited Protein Database

O43157

EV SS

Gene name	PLXNB1 (KIAA0407, PLXN5, SEP)
Protein name	Plexin-B1
Names	Semaphorin receptor SEP
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5364
EC number
Protein Class	PLEXIN (PTHR22625)

Descriptions

Plexins are a large family of cell surface receptors for the axon guidance molecules semaphorins. Semaphorin-plexin signaling is essential for the regulation of neuronal development and other processes. Dysfunction in plexin pathways has been implicated in various diseases including neurological disorders and cancer.
Plexins are transmembrane proteins with a multidomain extracellular region that contains an N-terminal Sema domain. Before semaphorin binding, Plexin is an inactive monomer or dimer in which the RapGAP activity is autoinhibited. Binding of semaphorin to the Sema domain of plexin leads to activation of its cytoplasmic region, which relays the signal to downstream pathways. Mouse Plexin-A3 (P70208) possesses a segment preceding C1 domain and RDB domain as autoinhibitory elements.

Autoinhibitory domains (AIDs)

Target domain	1562-2102 (Plexin, cytoplasmic RasGAP domain)
Relief mechanism	Partner binding
Assay	Split protein assay

AID

9-479 (Sema domain)

Target domain

1562-2102 (Plexin, cytoplasmic RasGAP domain)

Relief mechanism

Partner binding (Semaphorin-induced dimerization)

Assay

Split protein assay

Target domain	1562-2102 (Plexin, cytoplasmic RasGAP domain)
Relief mechanism	Partner binding
Assay	Structural analysis, Mutagenesis experiment

AID

1734-1849 (RBD domain)

Target domain

1562-2102 (Plexin, cytoplasmic RasGAP domain)

Relief mechanism

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

Assay

Structural analysis, Mutagenesis experiment

1376-2102 (Segment preceding C1 domain) SS

Target domain	1562-2102 (Plexin, cytoplasmic RasGAP domain)
Relief mechanism
Assay

AID

1376-2102 (Segment preceding C1 domain)

Target domain

1562-2102 (Plexin, cytoplasmic RasGAP domain)

Relief mechanism

Assay

Accessory elements

No accessory elements

References

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

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

Autoinhibited structure

Activated structure

13 structures for O43157

Entry ID	Method	Resolution	Chain	Position	Source
2JPH	NMR	-	A	1743-1862	PDB
2OS6	NMR	-	B	2128-2135	PDB
2R2O	X-ray	200 A	A/B	1743-1862	PDB
2REX	X-ray	230 A	A/C	1743-1862	PDB
3HM6	X-ray	240 A	X	1511-2135	PDB
3OL2	X-ray	299 A	B	20-535	PDB
3SU8	X-ray	320 A	X	1533-2135	PDB
3SUA	X-ray	439 A	D/E/F	1511-2135	PDB
5B4W	X-ray	260 A	A/B/C/D/E/F	20-535	PDB
7VF3	X-ray	229 A	A/C	19-535	PDB
7VG7	X-ray	250 A	A	19-535	PDB
8B3K	X-ray	269 A	A/B	20-535	PDB
AF-O43157-F1	Predicted				AlphaFoldDB

1780 variants for O43157

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs984148790 CA352671919	4	L>P		No	ClinGen TOPMed gnomAD
CA73949148 rs984148790	4	L>R		No	ClinGen TOPMed gnomAD
CA352671903 rs1434630439	5	G>R		No	ClinGen gnomAD
CA352671874 rs1370307100	7	A>T		No	ClinGen gnomAD
CA352671852 rs1560076560	8	L>F		No	ClinGen Ensembl
rs1039645154 CA73949145	12	L>F		No	ClinGen Ensembl
CA352671665 rs1326729116	13	W>*		No	ClinGen gnomAD
rs1461887775 CA352671655	14	A>T		No	ClinGen gnomAD
rs1156870322 CA352671615	15	G>R		No	ClinGen gnomAD
CA352671488 rs1575411787	19	T>P		No	ClinGen Ensembl
CA2375399 rs773685600	20	L>I		No	ClinGen ExAC gnomAD
rs1251832191 CA352671425	21	Q>*		No	ClinGen gnomAD
CA352671317 rs1266729448	23	L>F		No	ClinGen gnomAD
rs1215742331 CA352671311	23	L>P		No	ClinGen gnomAD
CA352671226 rs1317863778	25	P>L		No	ClinGen gnomAD
CA2375397 rs530386453	27	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA2375396 rs781469849	29	T>N		No	ClinGen ExAC TOPMed gnomAD
CA352671064 rs1575411708	29	T>P		No	ClinGen Ensembl
CA352671040 rs1443115009	30	P>A		No	ClinGen TOPMed gnomAD
rs1443115009 CA352671045	30	P>T		No	ClinGen TOPMed gnomAD
CA2375394 rs559719918	31	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs533198395 CA73949084	32	G>D		No	ClinGen ExAC TOPMed gnomAD
rs533198395 CA2375393	32	G>V		No	ClinGen ExAC TOPMed gnomAD
CA73949059 rs956668949	33	T>M		No	ClinGen Ensembl
CA2375390 rs532663603	34	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
CA352670841 rs1254408072	36	Q>E		No	ClinGen TOPMed
rs1575411634 CA352670818	37	H>P		No	ClinGen Ensembl
rs752550208 CA352670804	37	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1560076331 CA352670743	40	R>K		No	ClinGen Ensembl
CA2375387 rs375170570	40	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA352670733 rs1455163096	41	D>V		No	ClinGen gnomAD
rs1243083358 CA352670522	46	T>P		No	ClinGen gnomAD
rs1243083358 CA352670504	46	T>S		No	ClinGen gnomAD
CA352670447 rs1208373508	47	L>F		No	ClinGen gnomAD
rs1340117398 CA352670299	50	G>E		No	ClinGen gnomAD
rs1575411504 CA352670234	52	T>P		No	ClinGen Ensembl
CA352670196 rs1575411496	53	N>T		No	ClinGen Ensembl
rs1290577398 CA352669900	60	P>S		No	ClinGen gnomAD
rs1313077440 CA352669676	67	T>A		No	ClinGen gnomAD
rs1436253881 CA352669639	68	V>M		No	ClinGen gnomAD
rs879840438 CA73949003	69	S>F		No	ClinGen Ensembl
CA2375382 rs773237707	70	T>P		No	ClinGen ExAC gnomAD
rs770292004 CA2375381	71	G>S		No	ClinGen ExAC gnomAD
CA352669487 rs1186445472	72	P>S		No	ClinGen gnomAD
rs1485524568 CA352669404	73	V>E		No	ClinGen TOPMed gnomAD
rs1485524568 CA352669389	73	V>G		No	ClinGen TOPMed gnomAD
CA352669361 rs1320713031	74	L>P		No	ClinGen gnomAD
CA352669286 rs1482236259	76	S>N		No	ClinGen gnomAD
CA352669255 rs1250977039	77	R>G		No	ClinGen gnomAD
rs1306830508 CA352669241	77	R>S		No	ClinGen TOPMed
COSM1045808	81	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1228173709 CA352668988	83	V>L		No	ClinGen gnomAD
CA73948983 rs879740255	84	M>T		No	ClinGen Ensembl
CA352668881 rs1411215429	85	P>R		No	ClinGen TOPMed
rs1297585239 CA352668884	85	P>S		No	ClinGen gnomAD
CA352668799 rs1429935528	86	D>E		No	ClinGen TOPMed gnomAD
rs372170352 CA73948981	87	E>G		No	ClinGen ESP TOPMed
rs1231422105 CA352668714	88	C>Y		No	ClinGen gnomAD
rs1299793529 CA352668586	91	A>G		No	ClinGen TOPMed
rs1314058362 CA352668520	93	P>H		No	ClinGen TOPMed
rs374420352 CA2375379	94	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1343371064 CA352668496	94	T>S		No	ClinGen gnomAD
CA352668428 rs1325216487	95	N>S		No	ClinGen TOPMed gnomAD
CA2375378 rs768902647	97	P>L		No	ClinGen ExAC gnomAD
rs768902647 CA73948973	97	P>Q		No	ClinGen ExAC gnomAD
rs780898975 CA73948978	97	P>T		No	ClinGen gnomAD
CA352668284 rs1355801406	99	Q>*		No	ClinGen gnomAD
rs1475203227 CA352668177	103	V>M		No	ClinGen gnomAD
CA352668137 rs1419028801	104	S>N		No	ClinGen gnomAD
rs1488024932 CA352668073	106	G>R		No	ClinGen TOPMed
rs773856334 CA2375376	107	A>V		No	ClinGen ExAC TOPMed gnomAD
COSM1423745	109	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA352667868 rs1167431787	111	C>R		No	ClinGen TOPMed
rs142710050 CA352667832	111	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1211728871 CA352667798	112	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	115	H>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA2375372 rs144549732	116	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA352667629 rs1333788122	116	Q>R		No	ClinGen gnomAD
CA352667566 rs1391650860	117	G>R		No	ClinGen gnomAD
CA73948869 rs368626600	118	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	118	V>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs368626600 CA2375371	118	V>L		No	ClinGen ExAC gnomAD
rs1460473833 CA352667508	119	C>Y		No	ClinGen gnomAD
CA352667401 rs868726471	122	R>G		No	ClinGen gnomAD
rs1167766917 CA352667379	122	R>Q		No	ClinGen gnomAD
CA73948855 rs868726471	122	R>W		No	ClinGen gnomAD
rs781079560 CA2375370	123	R>C		No	ClinGen ExAC TOPMed gnomAD
rs543884018 CA2375369	123	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751318560 CA2375368	125	G>E		No	ClinGen ExAC TOPMed gnomAD
CA352667236 rs1297047832	126	Q>H		No	ClinGen TOPMed
rs189274296 CA2375365	128	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1224173606 CA352667170	129	Q>E		No	ClinGen gnomAD
CA352667093 rs1239315928	132	L>M		No	ClinGen gnomAD
rs760971221 CA352667054	133	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2375360 COSM190216 rs760971221	133	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2375361 rs764571551	133	R>W		No	ClinGen ExAC TOPMed gnomAD
rs775854496 CA2375359	134	P>L		No	ClinGen ExAC gnomAD
CA352666989 rs1450769189	135	E>A		No	ClinGen TOPMed
COSM4823331 rs1384681298 CA352667019	135	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD
rs770718631 CA2375358	136	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1039548834 CA73948792	136	R>W		No	ClinGen TOPMed gnomAD
CA2375355 rs769397777	137	P>L		No	ClinGen ExAC gnomAD
rs772921027 CA2375356	137	P>S		No	ClinGen ExAC gnomAD
TCGA novel	138	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1200882098 CA352666880	138	G>R		No	ClinGen gnomAD
CA2375354 rs748165727	138	G>V		No	ClinGen ExAC TOPMed gnomAD
CA352666815 rs1560075468	140	T>I		No	ClinGen Ensembl
CA352666810 rs1489163618	141	Q>R		No	ClinGen gnomAD
rs781013305 CA2375353	142	Y>H		No	ClinGen ExAC gnomAD
CA2375352 rs754903218	143	V>A		No	ClinGen ExAC TOPMed gnomAD
CA352666768 rs1233163567	143	V>M		No	ClinGen gnomAD
rs1305068334 CA352666747	144	A>P		No	ClinGen gnomAD
CA352666734 rs1225868362	145	A>T		No	ClinGen gnomAD
CA2375351 rs746787122	145	A>V		No	ClinGen ExAC gnomAD
CA352666682 rs1319571272	146	N>S		No	ClinGen gnomAD
rs1374055342 CA352666623	147	D>G		No	ClinGen gnomAD
rs1384224332 CA352666654	147	D>N		No	ClinGen gnomAD
CA73948758 rs200875085	148	P>S		No	ClinGen 1000Genomes gnomAD
rs779841900 CA73948754	149	A>E		No	ClinGen ExAC gnomAD
rs779841900 CA2375350	149	A>V		No	ClinGen ExAC gnomAD
CA2375347 rs765346004	152	T>M		No	ClinGen ExAC gnomAD
CA352666391 rs1489131052	153	V>A		No	ClinGen gnomAD
rs1193850371 CA352666414	153	V>M		No	ClinGen gnomAD
rs1209692607 CA352666383	154	G>R		No	ClinGen gnomAD
CA2375345 rs753909430	156	V>I		No	ClinGen ExAC gnomAD
CA352666311 rs1338206419	157	A>T		No	ClinGen TOPMed gnomAD
CA352666297 rs1437409322	158	Q>*		No	ClinGen TOPMed
rs370767561 CA73948744	160	L>F		No	ClinGen TOPMed
CA2375344 COSM228924 rs764543285	162	G>E	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA352666221 rs866290919	162	G>R		No	ClinGen gnomAD
rs866290919 CA73948734	162	G>W		No	ClinGen gnomAD
rs1293119478 CA352666200	163	E>K		No	ClinGen gnomAD
rs965990714 CA73948720	164	P>H		No	ClinGen TOPMed
CA73948706 rs979582087	166	L>M		No	ClinGen Ensembl
CA2375341 rs767985832	166	L>P		No	ClinGen ExAC gnomAD
CA2375340 rs762733652	168	V>A		No	ClinGen ExAC gnomAD
TCGA novel	168	V>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1478796490 CA352666080	169	G>E		No	ClinGen gnomAD
rs1168404886 CA352666089	169	G>R		No	ClinGen gnomAD
CA2375339 rs772976613	170	R>*		No	ClinGen ExAC gnomAD
CA352666056 rs1475419965	171	G>R		No	ClinGen gnomAD
CA352665992 rs1273154276	174	S>N		No	ClinGen gnomAD
CA352665986 rs1201054643	174	S>R		No	ClinGen gnomAD
CA352665972 rs1333248671	175	R>K		No	ClinGen gnomAD
CA73948639 rs948129414	175	R>S		No	ClinGen TOPMed
CA352665957 rs1234236254	176	G>A		No	ClinGen gnomAD
rs1273126321 CA352665962	176	G>S		No	ClinGen gnomAD
CA73948636 CA352665953 rs916784716	177	V>L		No	ClinGen gnomAD
rs916784716 CA352665954	177	V>M		No	ClinGen gnomAD
CA73948610 rs960835552	179	G>D		No	ClinGen Ensembl
COSM1180957 rs953293505	179	G>V	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs953293505	180	G>W	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA2375335 rs376871963	183	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2375334 rs746951961	185	T>K		No	ClinGen ExAC gnomAD
CA352665827 rs1469360260	187	R>Q		No	ClinGen gnomAD
CA352665828 rs1175091336	187	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA352665784 rs1252879665	190	W>*		No	ClinGen gnomAD
CA2375327 rs753873404	191	P>L		No	ClinGen ExAC gnomAD
CA352665780 rs112441374	191	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2375328 rs112441374	191	P>T		No	ClinGen ExAC TOPMed gnomAD
CA352665728 rs1575410407	193	D>A		No	ClinGen Ensembl
CA73948424 rs892200211	193	D>N		No	ClinGen TOPMed gnomAD
rs768043034 CA2375323	194	P>S		No	ClinGen ExAC TOPMed gnomAD
rs760000803 CA352665681	195	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1003157687 CA352665671	195	Q>H		No	ClinGen TOPMed gnomAD
rs760000803 CA2375322	195	Q>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	196	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA352665612 rs761471990	199	S>C		No	ClinGen ExAC TOPMed gnomAD
CA2375319 rs761471990	199	S>F		No	ClinGen ExAC TOPMed gnomAD
CA352665614 rs1437163908	199	S>P		No	ClinGen gnomAD
TCGA novel	200	Y>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1399911349 CA352665604	200	Y>F		No	ClinGen gnomAD
CA2375317 rs768207490	201	E>G		No	ClinGen ExAC gnomAD
rs1160121800 CA352665585	202	E>K		No	ClinGen gnomAD
rs1194791587 CA352665503	206	L>V		No	ClinGen TOPMed gnomAD
CA2375316 rs35798367	207	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA352665477 rs1240872947	207	A>V		No	ClinGen gnomAD
CA2375315 rs775387882	210	R>C		No	ClinGen ExAC gnomAD
COSM169211 CA2375314 rs771952055	210	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1288378008 CA352665413	211	L>F		No	ClinGen TOPMed gnomAD
CA352665407 rs1232420867	211	L>H		No	ClinGen gnomAD
CA352665415 rs1288378008	211	L>I		No	ClinGen TOPMed gnomAD
rs1181925738 CA352665364	213	E>K		No	ClinGen TOPMed
rs1575410259 CA352665335	214	Y>D		No	ClinGen Ensembl
CA352665327 rs1304326814 COSM583906	214	Y>F	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA352665312 rs1219732900	215	S>G		No	ClinGen gnomAD
TCGA novel	215	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA352665174 rs140603920	218	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2375310 rs34256029	219	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2375311 rs146847340	219	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352665080 rs1197721623	221	A>V		No	ClinGen gnomAD
rs777750927 CA2375309	224	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200677699 CA2375308	224	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1434412512 CA352664870	227	S>G		No	ClinGen gnomAD
CA2375305 rs755468121	227	S>N		No	ClinGen ExAC gnomAD
CA2375303 COSM4118197 rs766838926	228	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1344874035 CA352664474	234	R>P		No	ClinGen gnomAD
rs867797903 CA73948288	235	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs776036617 CA2375299	235	R>W		No	ClinGen ExAC gnomAD
rs1212274661 CA352664447	236	D>G		No	ClinGen gnomAD
rs375084462 CA2375298	239	A>S		No	ClinGen ESP ExAC gnomAD
rs759453789 CA352664314	240	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs781034719 CA2375297	240	Q>P		No	ClinGen ExAC gnomAD
CA73948269 rs781034719	240	Q>R		No	ClinGen ExAC gnomAD
rs1340882998 CA352664168	245	R>C		No	ClinGen TOPMed gnomAD
CA2375295 rs774196252	245	R>H		No	ClinGen ExAC TOPMed gnomAD
rs774196252 CA352664143	245	R>P		No	ClinGen ExAC TOPMed gnomAD
rs770724371 CA2375294	246	A>P		No	ClinGen ExAC gnomAD
COSM3993121	246	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA352664118 rs1220478821	247	Y>C		No	ClinGen TOPMed
rs374123799 CA2375293	248	V>G		No	ClinGen ExAC gnomAD
COSM1309213	249	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA2375292 rs773505268	249	S>P		No	ClinGen ExAC gnomAD
rs943985653 CA73948242	250	R>*		No	ClinGen TOPMed
rs769867127 CA2375291	250	R>Q		No	ClinGen ExAC gnomAD
rs1575410026 CA352663971	251	V>G		No	ClinGen Ensembl
rs1426223329 CA352664007	251	V>M		No	ClinGen gnomAD
rs755602385 CA2375287 COSM4391918	254	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
CA2375288 rs566324180	254	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1183214234 CA352663651	261	Y>H		No	ClinGen TOPMed
rs1250892170 CA352663605	262	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	267	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs547716678 CA2375284	269	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1560074265 CA352663381	270	G>D		No	ClinGen Ensembl
rs763842933 CA2375282	272	R>C		No	ClinGen ExAC TOPMed gnomAD
CA73948157 rs763842933	272	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2375280 rs61729213	272	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61729213 CA2375281	272	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763842933 CA2375283	272	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1446885932 CA352663304	274	G>R		No	ClinGen gnomAD
TCGA novel	279	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA2375278 rs759507137	280	A>G		No	ClinGen ExAC gnomAD
rs1369460039 CA352663172	281	V>E		No	ClinGen gnomAD
CA2375276 rs766177978	283	T>A		No	ClinGen ExAC gnomAD
rs200325578 CA2375275	283	T>K		No	ClinGen 1000Genomes ExAC gnomAD
rs200325578 CA2375274	283	T>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1438441037 CA352663122	284	S>C		No	ClinGen TOPMed
CA2375273 rs770066521	284	S>T		No	ClinGen ExAC TOPMed gnomAD
rs148953234 CA2375271	285	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3594910	286	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA352663064 rs1575409819	287	V>G		No	ClinGen Ensembl
rs747568586 CA2375269	288	A>E		No	ClinGen ExAC TOPMed gnomAD
rs747568586 CA2375270	288	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2375266 rs746250691	289	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1314691032 CA352663031	289	H>R		No	ClinGen gnomAD
CA352663013 rs1575409782	290	G>R		No	ClinGen Ensembl
CA2375265 rs779092552	291	E>*		No	ClinGen ExAC
CA352662964 rs1575409765	292	V>G		No	ClinGen Ensembl
CA2375264 rs755828321	292	V>M		No	ClinGen ExAC gnomAD
CA73948014 rs888686807	294	F>L		No	ClinGen TOPMed gnomAD
COSM356140	297	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA73947999 rs974165314	298	S>F		No	ClinGen TOPMed
TCGA novel	299	S>F	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs542965215 CA2375262	299	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA73947988 rs1018044914	300	A>G		No	ClinGen gnomAD
rs766344608 CA2375259	302	P>H		No	ClinGen ExAC gnomAD
rs750993579 CA2375260	302	P>T		No	ClinGen ExAC gnomAD
rs188697214 CA2375258	303	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA73947937 rs188697214	303	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2375257 rs188697214	303	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	304	T>H	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA352662781 rs1267977328	304	T>I		No	ClinGen gnomAD
COSM4613604	304	T>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA352662773 rs1484783212	305	V>A		No	ClinGen gnomAD
rs201285818 CA2375254	307	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2375255 rs369805770	307	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA352662733 rs1232940706	308	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs768952215 CA2375253	308	P>S		No	ClinGen ExAC gnomAD
CA352662721 rs1363877787	309	P>L		No	ClinGen TOPMed
CA2375252 rs142876524	310	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2375250 rs772649520	311	A>V		No	ClinGen ExAC gnomAD
rs1299003013 CA352662664	313	A>T		No	ClinGen gnomAD
rs1421812144 CA352662626	315	A>T		No	ClinGen gnomAD
CA2375246 rs368760694	317	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1478404336 CA352662559	318	A>V		No	ClinGen gnomAD
rs1049736430 CA73947899	320	A>P		No	ClinGen TOPMed
TCGA novel	321	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs780853042 CA2375245	322	C>F		No	ClinGen ExAC TOPMed gnomAD
CA352662468 rs1200948821	324	F>L		No	ClinGen gnomAD
COSM3594909 CA352662427 rs1263861827	325	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed
rs1206923958 CA352662440	325	P>S		No	ClinGen TOPMed
rs1206923958 CA352662438	325	P>T		No	ClinGen TOPMed
CA352662354 rs1216880857	329	V>A		No	ClinGen gnomAD
CA2375243 rs144682293	331	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2375244 rs146977900	331	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1199343977 CA352662310	332	L>F		No	ClinGen gnomAD
CA352662294 rs1277091060	333	A>G		No	ClinGen gnomAD
rs758428516 CA2375241	333	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2375242 rs758428516	333	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2375240 rs373706977	335	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2375239 rs765174256	335	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2375238 rs761724294	336	T>M		No	ClinGen ExAC TOPMed gnomAD
CA2375236 rs764417958	337	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2375235 rs760754580	337	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs775701050 CA2375234	338	D>G		No	ClinGen ExAC gnomAD
CA2375233 rs772011479	342	T>S		No	ClinGen ExAC gnomAD
CA352662085 rs760134829	343	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2375231 rs774740389	343	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs760134829 CA2375232	343	R>W		No	ClinGen ExAC TOPMed gnomAD
rs771383902 CA2375230	344	E>D		No	ClinGen ExAC gnomAD
rs1478012974 CA352662069	344	E>K		No	ClinGen Ensembl
rs1254914518 CA352662049	345	G>S		No	ClinGen gnomAD
CA2375229 rs749656777	346	R>C		No	ClinGen ExAC TOPMed gnomAD
CA352662012 rs749656777	346	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2375228 rs371044732	346	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA352662021 rs749656777	346	R>S		No	ClinGen ExAC TOPMed gnomAD
CA352661957 rs1262628204	348	E>D		No	ClinGen TOPMed
CA2375227 rs146898727	348	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352661961 rs1207385124	348	E>V		No	ClinGen TOPMed
rs1194576501 CA352661940	349	D>V		No	ClinGen gnomAD
CA2375226 rs192227026	350	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352661923 rs192227026	350	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1317770250 CA352661932	350	G>R		No	ClinGen gnomAD
rs757824434 CA2375224	352	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1575409379 CA352661846	353	V>G		No	ClinGen Ensembl
CA2375223 rs141304166	353	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200096160 CA73947689	355	Y>C		No	ClinGen TOPMed
rs571891500 CA2375222	356	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA2375220 rs753701639	357	E>Q		No	ClinGen ExAC gnomAD
rs763972146 CA2375219	361	N>S		No	ClinGen ExAC gnomAD
CA352661656 rs1399400031	362	S>P		No	ClinGen gnomAD
rs1171341592 CA352661604	364	C>S		No	ClinGen gnomAD
CA2375218 rs756428827	365	A>G		No	ClinGen ExAC gnomAD
COSM4118196	365	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA73946425 rs915087432	372	L>V		No	ClinGen TOPMed
rs755168281 CA2375194	373	D>G		No	ClinGen ExAC gnomAD
CA2375195 rs767634928	373	D>Y		No	ClinGen ExAC gnomAD
rs990594315 CA73946415	374	A>G		No	ClinGen gnomAD
rs1575408561 CA352659035	374	A>T		No	ClinGen Ensembl
CA352659010 rs990594315	374	A>V		No	ClinGen gnomAD
rs751694773 CA2375193	375	Y>H		No	ClinGen ExAC gnomAD
CA352658969 rs1486186147	376	P>H		No	ClinGen TOPMed
CA2375192 rs200514394	376	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA73946402 rs763491079	377	C>*		No	ClinGen ExAC TOPMed gnomAD
rs773687854 CA2375190	380	D>H		No	ClinGen ExAC gnomAD
rs1159220686 CA352658806	383	P>T		No	ClinGen TOPMed
CA2375189 rs765726123	384	S>G		No	ClinGen ExAC gnomAD
CA352658714 rs1295936145	387	A>T		No	ClinGen gnomAD
rs762118172 CA2375188	388	S>C		No	ClinGen ExAC TOPMed gnomAD
CA2375187 rs776989704	388	S>I		No	ClinGen ExAC gnomAD
rs745505050 CA73946329	389	R>P		No	ClinGen ExAC TOPMed gnomAD
rs745505050 CA2375185	389	R>Q		No	ClinGen ExAC TOPMed gnomAD
VAR_050598 CA2375186 rs34050056	389	R>W		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA2375184 rs774076102	390	V>I		No	ClinGen ExAC gnomAD
COSM1287259 CA2375182 rs199576492	391	P>L	Variant assessed as Somatic; MODERATE impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA352658617 rs199576492	391	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352658584 rs1575408431	393	E>K		No	ClinGen Ensembl
CA73946297 rs1046249819	395	T>S		No	ClinGen TOPMed
rs112016313 CA2375179	396	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352658481 rs1488700627	397	I>V		No	ClinGen gnomAD
rs1337477162 CA352658447	398	L>V		No	ClinGen TOPMed
CA2375176 rs751748174	402	G>E		No	ClinGen ExAC gnomAD
CA2375177 rs755222166	402	G>R		No	ClinGen ExAC gnomAD
rs1560072435 CA352658306	404	Q>E		No	ClinGen Ensembl
CA2375175 rs780157201	405	L>I		No	ClinGen ExAC gnomAD
CA2375174 rs758496127	411	T>A		No	ClinGen ExAC gnomAD
rs1275997751 CA352658167	411	T>I		No	ClinGen gnomAD
rs750464405 CA2375173	412	M>K		No	ClinGen ExAC TOPMed gnomAD
rs35216472 CA73946265	412	M>V		No	ClinGen TOPMed
rs765668919 CA2375172	414	D>G		No	ClinGen ExAC gnomAD
COSM3594907	415	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA352658035 rs1288591378	416	H>R		No	ClinGen TOPMed gnomAD
rs899231872 CA73946258	418	I>M		No	ClinGen gnomAD
rs762325865 CA2375171	418	I>V		No	ClinGen ExAC gnomAD
rs754215700 COSM3660589 CA2375170	419	A>T	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2375169 rs764518586	419	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs770663600 CA2375166	422	G>S		No	ClinGen ExAC gnomAD
rs990560551 CA73946189	424	S>G		No	ClinGen TOPMed gnomAD
rs762554170 CA2375165	424	S>N		No	ClinGen ExAC gnomAD
CA352657788 rs1265553498	425	Q>H		No	ClinGen gnomAD
CA352657745 rs1340965923	427	Q>H		No	ClinGen TOPMed
CA352657722 rs1443684566	429	H>D		No	ClinGen TOPMed gnomAD
CA2375164 rs772717018	429	H>L		No	ClinGen ExAC gnomAD
rs772717018 CA352657718	429	H>R		No	ClinGen ExAC gnomAD
CA352657585 rs1331234843	432	Y>S		No	ClinGen gnomAD
CA352657529 rs1448242715	434	G>D		No	ClinGen gnomAD
rs1485568093 CA352657540	434	G>R		No	ClinGen TOPMed
CA352657495 rs1457740317	435	P>Q		No	ClinGen gnomAD
rs142527941 CA2375148	435	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2375147 rs373864177	436	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA352657466 rs1379829487	437	S>N		No	ClinGen gnomAD
rs768542002 CA2375143	438	D>E		No	ClinGen ExAC TOPMed gnomAD
CA352657440 rs1440168064	438	D>G		No	ClinGen gnomAD
rs761705371 CA2375144	438	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2375145 rs761705371	438	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs746813219 CA2375141	440	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA352657352 rs1488050644	441	P>T		No	ClinGen gnomAD
CA2375139 rs772340518	442	Y>C		No	ClinGen ExAC gnomAD
rs772340518 CA2375140	442	Y>F		No	ClinGen ExAC gnomAD
rs139956646 CA2375138	443	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs778904335 CA2375137	444	T>I		No	ClinGen ExAC gnomAD
rs1223481977 CA352657265	445	Q>*		No	ClinGen gnomAD
rs148423378 CA2375136	446	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1043675778 CA73945716	448	Q>P		No	ClinGen Ensembl
rs749283076 CA2375135	449	Q>R		No	ClinGen ExAC
CA352657091 rs1299859500	450	G>E		No	ClinGen gnomAD
CA2375133 rs756628599	451	S>C		No	ClinGen ExAC TOPMed gnomAD
CA352657048 rs756628599	451	S>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	453	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA352657035 rs1159745084	453	V>M		No	ClinGen TOPMed
rs114964512 CA2375131	454	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767796108 CA73945667	455	R>G		No	ClinGen Ensembl
CA352656944 rs1421612819	455	R>K		No	ClinGen gnomAD
rs758163181 CA2375130	456	D>E		No	ClinGen ExAC
TCGA novel	456	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA2375129 rs750066899	457	L>F		No	ClinGen ExAC gnomAD
rs750066899 CA352656870	457	L>V		No	ClinGen ExAC gnomAD
rs1196716522 CA352656848	458	T>I		No	ClinGen gnomAD
CA73945657 rs937754166	459	F>C		No	ClinGen Ensembl
rs1201127712 CA352656731	463	F>L		No	ClinGen gnomAD
COSM4828197	464	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA2375126 rs775938512	468	V>F		No	ClinGen ExAC gnomAD
CA352656574 rs775938512	468	V>I		No	ClinGen ExAC gnomAD
CA352656480 rs1332040389	471	Q>K		No	ClinGen gnomAD
CA352656441 rs1303783326	472	S>G		No	ClinGen gnomAD
COSM480205 CA352656445 rs1303783326	472	S>R	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1398560255 CA352656398	473	T>I		No	ClinGen TOPMed gnomAD
rs1183357809 CA352656280	474	L>F		No	ClinGen TOPMed
rs368320033 CA73945518	477	V>F		No	ClinGen ESP TOPMed gnomAD
rs1422732897 COSM3916208 CA352656192	478	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD
rs781723083 CA2375111	479	V>L		No	ClinGen ExAC gnomAD
CA2375110 rs755391021	481	S>F		No	ClinGen ExAC gnomAD
rs751830836 CA2375109	483	A>T		No	ClinGen ExAC gnomAD
CA352655999 rs1245471019	484	Q>*		No	ClinGen gnomAD
CA352655990 rs1245471019	484	Q>E		No	ClinGen gnomAD
CA2375107 rs756802958	486	L>P		No	ClinGen ExAC gnomAD
CA352655887 rs1216691959	487	D>E		No	ClinGen gnomAD
rs1354438823 CA352655847	488	C>W		No	ClinGen gnomAD
CA352655828 rs1283843258	489	A>S		No	ClinGen gnomAD
CA352655811 rs1245574867	489	A>V		No	ClinGen gnomAD
CA352655769 rs1385144415	490	S>F		No	ClinGen gnomAD
rs753448422 CA2375106	494	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1303732442 CA352655614	495	R>K		No	ClinGen TOPMed
CA352655585 rs1373257440	495	R>S		No	ClinGen TOPMed
CA2375105 rs377195859	497	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs760649497 CA2375104	498	Y>H		No	ClinGen ExAC gnomAD
rs910552457 CA73945471	499	C>Y		No	ClinGen TOPMed
rs1233891016 CA352655392	500	G>E		No	ClinGen TOPMed
rs767398308 CA352655257	503	V>A		No	ClinGen ExAC gnomAD
rs767398308 CA2375102	503	V>G		No	ClinGen ExAC gnomAD
COSM5726679 CA2375103 rs140699424	503	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
CA352655232 rs1388086360	505	L>F		No	ClinGen gnomAD
rs1215939404 CA352655099	509	S>G		No	ClinGen gnomAD
CA352655092 rs1354558209	509	S>N		No	ClinGen gnomAD
CA2375085 rs527420911	510	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs759375530 CA2375084 COSM3824059	510	R>H	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
CA2375083 rs751435180	511	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2375082 rs766055233	511	R>H		No	ClinGen ExAC TOPMed gnomAD
rs763282864 CA2375081	512	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1033978577 CA73945216	513	E>A		No	ClinGen TOPMed
CA2375079 rs560284322	515	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2375076 rs769264300	518	Q>*		No	ClinGen ExAC gnomAD
rs1413197652 CA352654941	519	G>S		No	ClinGen gnomAD
CA352654916 rs747467984	520	P>L		No	ClinGen ExAC gnomAD
rs747467984 CA2375075	520	P>R		No	ClinGen ExAC gnomAD
CA352654911 rs1222715824	521	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs191486525 CA73945199	523	W>C		No	ClinGen 1000Genomes gnomAD
rs780509333 CA2375074	527	F>V		No	ClinGen ExAC TOPMed gnomAD
rs958930648 CA73945198	530	E>A		No	ClinGen Ensembl
CA352654723 rs1575406155	531	L>P		No	ClinGen Ensembl
TCGA novel	534	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA352654654 rs1575406127	536	V>G		No	ClinGen Ensembl
rs777437553 CA2375071	536	V>M		No	ClinGen ExAC gnomAD
CA352654643 rs1310305688	537	A>V		No	ClinGen gnomAD
CA352654632 rs1575406100	538	A>G		No	ClinGen Ensembl
CA352654641 rs1277857067	538	A>T		No	ClinGen gnomAD
CA352654629 rs755701581	539	M>L		No	ClinGen ExAC gnomAD
CA2375069 rs752259306	539	M>T		No	ClinGen ExAC gnomAD
CA2375070 rs755701581	539	M>V		No	ClinGen ExAC gnomAD
CA73945177 rs1034541833	540	S>G		No	ClinGen Ensembl
rs1216866439 CA352654568	543	N>S		No	ClinGen TOPMed
rs1479353835 CA352654572	543	N>Y		No	ClinGen gnomAD
rs754980263 CA2375067	546	R>P		No	ClinGen ExAC gnomAD
rs754980263 CA352654532	546	R>Q		No	ClinGen ExAC gnomAD
CA352654528 rs1290058424	547	E>K		No	ClinGen gnomAD
rs1445207248 CA352654519	548	E>A		No	ClinGen gnomAD
rs751427669 CA2375066	549	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1045802	551	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs765092255 CA2375041	552	V>G		No	ClinGen ExAC gnomAD
rs200826099 CA2375040	553	F>S		No	ClinGen 1000Genomes ExAC gnomAD
CA73944836 rs986019911	558	D>A		No	ClinGen Ensembl
TCGA novel	559	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1392298410 CA352654361	559	L>P		No	ClinGen gnomAD
CA352654364 rs1309208888	559	L>V		No	ClinGen TOPMed gnomAD
CA73944798 rs990742928	565	G>E		No	ClinGen gnomAD
TCGA novel	565	G>V	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1575405436 CA352654264	566	E>G		No	ClinGen Ensembl
CA2375034 rs760009685	567	S>A		No	ClinGen ExAC gnomAD
rs774767871 CA2375033	569	S>P		No	ClinGen ExAC gnomAD
rs749599528 CA2375031	572	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1252493255 CA352654034	573	G>E		No	ClinGen gnomAD
COSM3594906	573	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1045798	573	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1034576039 CA73944714	574	E>D		No	ClinGen Ensembl
CA352654027 rs1490068842	574	E>K		No	ClinGen TOPMed gnomAD
CA2375029 rs768315596	577	S>I		No	ClinGen ExAC TOPMed gnomAD
rs768315596 CA352653972	577	S>N		No	ClinGen ExAC TOPMed gnomAD
CA352653956 rs1224023625	578	P>L		No	ClinGen gnomAD
CA352653871 rs1299571832	585	G>D		No	ClinGen gnomAD
CA352653836 rs1386586160	587	M>T		No	ClinGen gnomAD
CA73944701 rs754367347	588	C>R		No	ClinGen Ensembl
COSM6097870	588	C>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs779593885 CA2375027	588	C>Y		No	ClinGen ExAC gnomAD
CA352653751 rs1468215425	591	P>S		No	ClinGen gnomAD
CA2375025 rs34087325	592	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs538151161 CA2375023	593	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA73944644 rs751392390	598	V>M		No	ClinGen Ensembl
rs764250902 CA2375021	600	P>L		No	ClinGen ExAC TOPMed gnomAD
rs764250902 CA352652072	600	P>R		No	ClinGen ExAC TOPMed gnomAD
CA352652057 rs1480007080	601	R>T		No	ClinGen gnomAD
rs752763475 CA2375019	603	A>D		No	ClinGen ExAC gnomAD
rs1265046194 CA352652032	603	A>T		No	ClinGen TOPMed
CA352651919 rs1206100832	604	D>V		No	ClinGen gnomAD
rs750793306 CA2374993	605	Y>D		No	ClinGen ExAC gnomAD
rs750793306 CA352651907	605	Y>H		No	ClinGen ExAC gnomAD
CA2374991 rs760301556	606	V>I		No	ClinGen ExAC gnomAD
rs771781739 CA2374990	607	S>C		No	ClinGen ExAC TOPMed gnomAD
CA352651869 rs1395278951	607	S>P		No	ClinGen gnomAD
CA2374989 rs771781739	607	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA352651837 rs1182444714	608	V>G		No	ClinGen gnomAD
CA352651850 rs1366270038	608	V>M		No	ClinGen TOPMed gnomAD
CA2374986 rs377145799	610	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2374985 rs377145799	610	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs999809255 COSM1221293 CA73944186	611	E>G	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	611	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	614	F>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA2374983 rs769648220	616	A>T		No	ClinGen ExAC TOPMed gnomAD
CA73944174 rs1041911083	617	V>A		No	ClinGen TOPMed
rs747833297 CA2374982	617	V>I		No	ClinGen ExAC gnomAD
rs1467790993 CA352651681	618	V>L		No	ClinGen TOPMed
CA2374980 rs141123139 COSM1045796	620	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs751688636 CA2374979	620	A>V		No	ClinGen ExAC
rs1246833791 CA352651632	621	K>R		No	ClinGen gnomAD
CA352651619 rs1383385825	622	T>S		No	ClinGen gnomAD
rs370023747 CA2374977	624	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA2374975 rs765603475	625	S>F		No	ClinGen ExAC gnomAD
CA352651499 rs1329110155	628	D>A		No	ClinGen gnomAD
CA352651494 rs1411224464	628	D>E		No	ClinGen TOPMed gnomAD
rs374413275 CA352651439	631	A>E		No	ClinGen ExAC TOPMed gnomAD
rs374413275 CA2374974 COSM1191934	631	A>V	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA352651412 rs1575404532	632	V>G		No	ClinGen Ensembl
rs920684152 CA73944114	633	T>I		No	ClinGen TOPMed
CA352651388 rs1387599509	634	E>K		No	ClinGen gnomAD
rs1028818224 CA73944110	635	L>F		No	ClinGen TOPMed gnomAD
rs1028818224 CA352651374	635	L>I		No	ClinGen TOPMed gnomAD
rs767296717 CA2374972	636	R>C		No	ClinGen ExAC TOPMed gnomAD
rs759237696 CA2374971	636	R>H		No	ClinGen ExAC TOPMed gnomAD
rs202117717 CA2374970	637	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2374969 COSM84799 rs371690817	639	A>V	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA352651162 rs1575404302	641	C>G		No	ClinGen Ensembl
TCGA novel	641	C>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA73944001 rs200186744	642	Q>H		No	ClinGen Ensembl
CA352651127 rs1575404295	642	Q>R		No	ClinGen Ensembl
CA352651028 rs1575404284	645	V>G		No	ClinGen Ensembl
rs1338111030 CA352650995	647	S>N		No	ClinGen TOPMed
rs555355943 CA2374952	648	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352650967 rs762558724	648	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2374951 rs762558724	648	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1560068414 CA352650927	650	G>R		No	ClinGen Ensembl
CA2374950 rs374536221	650	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1575404239 CA352650909	651	C>G		No	ClinGen Ensembl
rs1226118451 CA352650899	651	C>Y		No	ClinGen TOPMed
CA2374949 rs761708253	652	N>K		No	ClinGen ExAC TOPMed gnomAD
rs371644872 CA73943958	652	N>Y		No	ClinGen ESP
rs140789442 CA2374947	656	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	663	K>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA352650539 rs1260550491	664	A>D		No	ClinGen TOPMed
CA352650546 rs1405893446	664	A>S		No	ClinGen gnomAD
CA73943920 rs922450409	665	S>L		No	ClinGen TOPMed gnomAD
rs1421782303 CA352650432	668	A>G		No	ClinGen gnomAD
rs1264550939 CA352650385	670	P>L		No	ClinGen TOPMed
CA2374940 rs202001450	671	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs374428886 CA2374941	671	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs368319437 CA2374942	671	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA352650335 rs1282662378	672	V>I		No	ClinGen TOPMed gnomAD
CA2374938 rs778371892	675	H>R		No	ClinGen ExAC gnomAD
rs1248071401 CA352649922	677	S>I		No	ClinGen gnomAD
rs1248071401 CA352649929	677	S>N		No	ClinGen gnomAD
CA352649883 rs750031146	678	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2374913 rs750031146	678	P>R		No	ClinGen ExAC TOPMed gnomAD
rs901087355 CA73943411	679	L>P		No	ClinGen TOPMed
rs778478849 CA2374912	680	V>A		No	ClinGen ExAC TOPMed gnomAD
rs966741887 CA73943406	680	V>I		No	ClinGen Ensembl
rs1575403290 CA352649711	683	D>A		No	ClinGen Ensembl
rs756764439 CA2374911	684	P>L		No	ClinGen ExAC gnomAD
rs753303808 CA2374910	685	P>L		No	ClinGen ExAC gnomAD
CA2374909 rs764040440	686	A>T		No	ClinGen ExAC TOPMed gnomAD
CA352649628 rs1240718097	687	R>S		No	ClinGen TOPMed gnomAD
rs1315667773 CA352649618	688	G>C		No	ClinGen gnomAD
CA352649613 rs1306667975	688	G>D		No	ClinGen gnomAD
CA2374908 rs760580223	689	G>A		No	ClinGen ExAC
rs201837306 CA2374907	690	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2374906 rs767207955	690	P>L		No	ClinGen ExAC gnomAD
CA2374905 rs759321808	693	S>F		No	ClinGen ExAC gnomAD
rs1366345664 CA352649477	693	S>P		No	ClinGen TOPMed gnomAD
COSM4832072	694	P>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA352649372 rs1267760556	695	P>H		No	ClinGen TOPMed gnomAD
CA73943343 rs868708658	696	T>P		No	ClinGen TOPMed gnomAD
CA2374904 rs370895292	697	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA352649211 rs1196917018	698	P>H		No	ClinGen gnomAD
rs1247034220 CA352649183	699	K>Q		No	ClinGen TOPMed
CA2374903 rs771240281	699	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1575403137 CA352649092	701	L>P		No	ClinGen Ensembl
rs1485151477 CA352649054	703	T>I		No	ClinGen gnomAD
CA352649065 rs1575403125	703	T>P		No	ClinGen Ensembl
rs905837926 CA73943285	704	P>S		No	ClinGen Ensembl
rs770465516 CA2374900	705	A>T		No	ClinGen ExAC gnomAD
rs1319157331 CA352648914	705	A>V		No	ClinGen gnomAD
CA2374898 rs557153228	706	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2374895 rs778565009	707	D>E		No	ClinGen ExAC gnomAD
rs377645403 CA2374896	707	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2374897 rs377645403	707	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs756852488 CA2374894	709	L>F		No	ClinGen ExAC gnomAD
rs777231480 CA352648732	711	V>L		No	ClinGen ExAC TOPMed gnomAD
rs777231480 CA2374892	711	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	712	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA352648675 rs1454112172	712	E>V		No	ClinGen gnomAD
rs756140305 CA2374891	714	G>W		No	ClinGen ExAC gnomAD
rs1253942448 CA352648626	715	A>T		No	ClinGen TOPMed
CA73943199 rs897348669	715	A>V		No	ClinGen TOPMed gnomAD
CA2374889 rs767426005	716	P>A		No	ClinGen ExAC TOPMed gnomAD
CA352648584 rs1200323961	716	P>L		No	ClinGen gnomAD
CA2374890 rs767426005	716	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA73943183 rs78883662	717	S>P		No	ClinGen Ensembl
CA352648553 rs1261615858	717	S>Y		No	ClinGen gnomAD
CA352648545 rs1575402968	718	T>P		No	ClinGen Ensembl
rs766760158 CA2374886	720	T>A		No	ClinGen ExAC gnomAD
rs763237511 CA352648459	720	T>I		No	ClinGen ExAC TOPMed gnomAD
rs763237511 CA2374885	720	T>R		No	ClinGen ExAC TOPMed gnomAD
rs542240925 CA2374884	721	A>P		No	ClinGen 1000Genomes ExAC gnomAD
CA352648434 rs542240925	721	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs75665465 RCV000964913 CA2374883	722	S>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs777007476 CA2374881	723	D>H		No	ClinGen ExAC gnomAD
rs1382648906 CA352648148	728	A>S		No	ClinGen gnomAD
rs1382648906 CA352648162	728	A>T		No	ClinGen gnomAD
rs769166079 CA2374880	730	P>L		No	ClinGen ExAC gnomAD
COSM3594905	731	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA2374877 rs770607105	732	L>P		No	ClinGen ExAC gnomAD
CA352647981 rs1460015503	733	L>F		No	ClinGen gnomAD
CA73943105 rs1035028363	734	S>G		No	ClinGen TOPMed
CA352647944 rs1371927438	734	S>R		No	ClinGen gnomAD
CA2374876 rs748932836	736	W>C		No	ClinGen ExAC gnomAD
CA352647819 rs777319284	737	G>R		No	ClinGen ExAC gnomAD
CA2374875 rs777319284	737	G>W		No	ClinGen ExAC gnomAD
COSM5763544	738	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1462081721 CA352647794	738	P>S		No	ClinGen gnomAD
rs1462081721 CA352647800	738	P>T		No	ClinGen gnomAD
CA2374872 rs201403957	739	W>R		No	ClinGen ExAC TOPMed gnomAD
rs751442220 CA2374870	740	A>G		No	ClinGen ExAC gnomAD
CA2374871 rs754923082	740	A>T		No	ClinGen ExAC gnomAD
rs1409831787 CA352647666	741	G>D		No	ClinGen TOPMed gnomAD
rs1376512965 CA352647637	742	S>C		No	ClinGen TOPMed
rs766274621 CA2374869	745	I>M		No	ClinGen ExAC TOPMed gnomAD
CA352647534 rs1312886256	745	I>T		No	ClinGen gnomAD
rs1344176092 CA352647547	745	I>V		No	ClinGen TOPMed gnomAD
CA2374868 rs758751354	746	S>P		No	ClinGen ExAC gnomAD
CA73943077 rs963948254	748	P>S		No	ClinGen TOPMed gnomAD
rs765432534 CA2374866	750	S>F		No	ClinGen ExAC gnomAD
RCV000949687 rs35592743 VAR_050599 CA2374865	753	S>L		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA352647220 rs1383898956	755	L>V		No	ClinGen gnomAD
rs764555935 CA2374863	758	E>G		No	ClinGen ExAC gnomAD
rs1575402739 CA352647011	760	S>P		No	ClinGen Ensembl
CA2374862 rs761210213	761	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1207344086 CA352646868	762	P>S		No	ClinGen gnomAD
CA352646859 rs1489894509	763	S>C		No	ClinGen gnomAD
rs1289489939 CA352646848	763	S>I		No	ClinGen gnomAD
rs1356981237 CA352646820	764	P>H		No	ClinGen gnomAD
CA352646808 rs772409458	765	Q>P		No	ClinGen ExAC gnomAD
rs772409458 CA2374860	765	Q>R		No	ClinGen ExAC gnomAD
rs1575402694 CA352646726	766	N>K		No	ClinGen Ensembl
COSM3594903	767	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA2374858 rs772885214	768	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA352646689 rs772885214	768	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2374859 rs746171195	768	P>S		No	ClinGen ExAC gnomAD
CA352646667 rs1456208331	769	G>R		No	ClinGen TOPMed
rs1575402652 CA352646637	770	T>P		No	ClinGen Ensembl
rs200874579 CA73942992	771	A>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs200874579 CA352646595	771	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA2374856 rs747664321	771	A>V		No	ClinGen ExAC gnomAD
CA2374855 rs144322613	773	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs561724985 CA352646556	774	A>P		No	ClinGen ExAC TOPMed gnomAD
rs561724985 CA2374854	774	A>T		No	ClinGen ExAC TOPMed gnomAD
CA352646543 rs1157154658	774	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1364578483 CA352646541	775	P>A		No	ClinGen TOPMed gnomAD
CA352646532 rs1468017417	775	P>R		No	ClinGen TOPMed
rs1364578483 CA352646538	775	P>S		No	ClinGen TOPMed gnomAD
CA2374851 rs758273567	776	T>A		No	ClinGen ExAC TOPMed gnomAD
CA352646428 rs1268197509	779	R>G		No	ClinGen gnomAD
CA2374850 rs750201343	779	R>K		No	ClinGen ExAC gnomAD
rs1575402552 CA352646411	779	R>S		No	ClinGen Ensembl
CA2374849 rs779023218	780	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753903930 CA2374847	783	T>A		No	ClinGen ExAC gnomAD
CA73942939 rs1032897886	783	T>I		No	ClinGen Ensembl
CA2374845 rs761224080	784	P>L		No	ClinGen ExAC gnomAD
rs764226151 CA2374846	784	P>T		No	ClinGen ExAC gnomAD
CA2374844 rs753213930	787	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2374843 rs767975297	787	L>P		No	ClinGen ExAC gnomAD
CA352646112 rs1203221863	789	A>V		No	ClinGen gnomAD
CA352646095 rs1436614844	790	S>P		No	ClinGen gnomAD
rs774760301 CA2374841	791	P>A		No	ClinGen ExAC gnomAD
rs769375183 CA2374840	791	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA73942884 rs769375183	791	P>R		No	ClinGen ExAC TOPMed gnomAD
rs774760301 CA73942889	791	P>T		No	ClinGen ExAC gnomAD
CA352645990 rs1479550150	794	P>L		No	ClinGen gnomAD
COSM1423740	794	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA2374835 rs780170775	797	V>L		No	ClinGen ExAC gnomAD
rs772084307 CA2374834	801	P>S		No	ClinGen ExAC gnomAD
rs745707242 CA2374833	802	P>A		No	ClinGen ExAC TOPMed gnomAD
rs778737523 CA2374832	803	A>S		No	ClinGen ExAC gnomAD
rs1320926692 CA352645739	804	D>G		No	ClinGen gnomAD
CA352645719 rs1262168185	805	P>S		No	ClinGen gnomAD
TCGA novel	806	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs377701034 CA2374830	808	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs777797796 CA2374829	809	A>D		No	ClinGen ExAC gnomAD
rs188956336 CA2374827	810	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1322917823 CA352645626	810	L>P		No	ClinGen gnomAD
COSM3594902	811	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA352645577 rs1468606197	814	V>M		No	ClinGen gnomAD
CA2374825 rs760009703	815	P>L		No	ClinGen ExAC gnomAD
rs373992924 CA2374826	815	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2374824 rs750458595	817	D>G		No	ClinGen ExAC TOPMed gnomAD
CA352645551 rs1375810306	817	D>N		No	ClinGen TOPMed gnomAD
CA352645537 rs750458595	817	D>V		No	ClinGen ExAC TOPMed gnomAD
COSM1423738	818	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA352645527 rs1423470902	818	L>P		No	ClinGen TOPMed
CA2374822 rs368923484	819	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA73942814 rs546534743	820	P>R		No	ClinGen 1000Genomes
CA2374821 rs776352646	820	P>S		No	ClinGen ExAC gnomAD
rs945845762 CA352645466	821	A>D		No	ClinGen TOPMed gnomAD
CA73942810 rs945845762	821	A>V		No	ClinGen TOPMed gnomAD
rs868559987 CA73942775	822	T>A		No	ClinGen Ensembl
CA352645413 rs1210471371	824	P>S		No	ClinGen gnomAD
CA73942754 rs867469288	826	T>P		No	ClinGen TOPMed
CA352645378 rs867469288	826	T>S		No	ClinGen TOPMed
CA352645351 rs992561752	827	T>A		No	ClinGen TOPMed gnomAD
rs1339232234 CA352645346	827	T>I		No	ClinGen gnomAD
CA73942740 rs992561752	827	T>P		No	ClinGen TOPMed gnomAD
COSM3974450	829	P>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA2374819 rs760282754	829	P>L		No	ClinGen ExAC gnomAD
rs1470621644 CA352645281	830	G>E		No	ClinGen gnomAD
rs1450896151 CA352645287	830	G>R		No	ClinGen gnomAD
rs772176144 CA2374817	832	M>I		No	ClinGen ExAC gnomAD
rs938417507 CA73942726	832	M>V		No	ClinGen TOPMed gnomAD
CA2374815 rs375934551	835	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2374814 CA352645111 rs184077189	836	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2374813 rs748966343	837	P>S		No	ClinGen ExAC gnomAD
CA2374810 rs748270877	838	A>D		No	ClinGen ExAC gnomAD
RCV000883913 CA2374811 rs146123448	838	A>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs146123448 CA2374812	838	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748270877 CA352645089	838	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA352645080 rs1182248270	839	L>P		No	ClinGen gnomAD
CA352645064 rs1263104956	840	D>G		No	ClinGen TOPMed
CA352645018 rs1203179745	841	W>*		No	ClinGen gnomAD
rs1203179745 CA352645021	841	W>C		No	ClinGen gnomAD
rs1477127660 CA352645047	841	W>R		No	ClinGen TOPMed
rs925786106 CA73942678	842	L>F		No	ClinGen Ensembl
rs755538005 CA2374808	843	T>M		No	ClinGen ExAC TOPMed gnomAD
CA2374806 rs766730689	845	E>G		No	ClinGen ExAC gnomAD
CA73942641 rs980021094	846	G>V		No	ClinGen TOPMed gnomAD
CA73942608 rs1013690031	847	G>S		No	ClinGen Ensembl
rs760372534 CA2374803	848	E>K		No	ClinGen ExAC gnomAD
rs760372534 CA2374802	848	E>Q		No	ClinGen ExAC gnomAD
CA352644823 rs1372561564	849	L>Q		No	ClinGen TOPMed gnomAD
CA352644812 rs1372561564	849	L>R		No	ClinGen TOPMed gnomAD
COSM5864700	850	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA2374800 rs767118820	850	P>S		No	ClinGen ExAC gnomAD
CA2374796 rs749160178	851	E>G		No	ClinGen ExAC gnomAD
CA2374797 rs770730230	851	E>K		No	ClinGen ExAC TOPMed gnomAD
CA352644787 rs770730230	851	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs749160178 CA352644774	851	E>V		No	ClinGen ExAC gnomAD
rs1425384726 CA352644759	852	A>E		No	ClinGen gnomAD
rs1425384726 CA352644755	852	A>V		No	ClinGen gnomAD
rs1181095488 CA352644742	853	D>N		No	ClinGen gnomAD
rs151201859 CA2374793	854	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1377847781 CA352644626	855	W>S		No	ClinGen TOPMed
CA2374791 rs755055994	856	T>M		No	ClinGen ExAC TOPMed gnomAD
rs553105128 CA2374792	856	T>P		No	ClinGen 1000Genomes ExAC gnomAD
CA352644597 rs780635611	857	G>A		No	ClinGen ExAC gnomAD
rs780635611 CA2374789	857	G>E		No	ClinGen ExAC gnomAD
rs780635611 CA352644595	857	G>V		No	ClinGen ExAC gnomAD
rs758807556 CA2374788	858	G>D		No	ClinGen ExAC gnomAD
rs1308020966 CA352644590	858	G>R		No	ClinGen gnomAD
CA2374786 rs765692619	859	D>N		No	ClinGen ExAC gnomAD
COSM4118193 CA2374784 rs374953457	860	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs573222628 CA2374783	860	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1294100582 CA352644500	861	P>T		No	ClinGen TOPMed gnomAD
rs371804692 CA2374780	862	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs149640079 CA2374779	863	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352644413 rs1301408171	865	T>P		No	ClinGen TOPMed gnomAD
CA73942481 rs111449580 COSM241194	867	T>I	prostate [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2374777 rs769591433	868	L>F		No	ClinGen ExAC gnomAD
COSM6164915	870	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA352644189 rs1560065551	874	D>E		No	ClinGen Ensembl
TCGA novel	875	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA73942461 rs200094762	875	S>L		No	ClinGen 1000Genomes
CA73942478 rs938485673	875	S>P		No	ClinGen TOPMed
rs997127348 CA73942457	876	A>G		No	ClinGen TOPMed gnomAD
CA2374775 rs776871720	877	E>D		No	ClinGen ExAC gnomAD
CA352644122 rs1455701202	878	L>F		No	ClinGen gnomAD
TCGA novel	878	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1159770323 CA352644087	880	G>D		No	ClinGen TOPMed
CA2374773 rs747160759	882	P>A		No	ClinGen ExAC gnomAD
rs535203274 CA73942424	883	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs779501210 CA352644008	885	L>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	885	L>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs779501210 CA2374769	885	L>V		No	ClinGen ExAC TOPMed gnomAD
COSM119952 rs1303499797 CA352643983	886	I>V	ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs757697113 CA2374768 COSM3594901	887	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
COSM480203	887	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA73942390 rs1008569174	888	P>L		No	ClinGen TOPMed gnomAD
COSM3916206	888	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1465104630 CA352643873	891	L>I		No	ClinGen gnomAD
CA2374764 rs781011102	891	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	892	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA2374761 rs765797782	892	D>N		No	ClinGen ExAC gnomAD
rs1178292141 CA352643792	894	Q>*		No	ClinGen TOPMed
CA2374760 rs139850470	895	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA73942339 rs1044075136	897	T>I		No	ClinGen TOPMed gnomAD
CA352643725 rs1441323349	897	T>P		No	ClinGen TOPMed
rs138350519 CA2374756	899	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768961397 CA2374755	900	L>F		No	ClinGen ExAC gnomAD
TCGA novel	900	L>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs760801484 CA2374754	902	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs531206772 CA73942147	904	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs531206772 CA2374741	904	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA2374740 rs142945989	906	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2374737 rs763782209	907	T>I		No	ClinGen ExAC gnomAD
CA2374738 rs763782209	907	T>N		No	ClinGen ExAC gnomAD
CA352643475 rs1575401070	907	T>P		No	ClinGen Ensembl
CA2374736 rs760460222	910	A>T		No	ClinGen ExAC gnomAD
CA352643420 rs1477453240	910	A>V		No	ClinGen TOPMed
rs367689762 CA73942120	912	S>P		No	ClinGen ESP
CA2374735 rs775575106	913	C>F		No	ClinGen ExAC gnomAD
rs1293966007 CA352643272	916	V>A		No	ClinGen TOPMed gnomAD
CA352643218 rs1252557225	918	S>N		No	ClinGen TOPMed gnomAD
CA2374732 rs774548685	919	V>I		No	ClinGen ExAC gnomAD
CA73942106 rs952756624	920	Q>E		No	ClinGen Ensembl
rs1356867594 CA352643136	921	G>D		No	ClinGen gnomAD
CA2374731 rs145961796	921	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs370309890 CA2374730	923	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370309890 CA2374729	923	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA352643038 CA352643033 rs1288384739	925	M>I		No	ClinGen gnomAD
rs748505227 CA2374727	925	M>R		No	ClinGen ExAC gnomAD
CA2374726 rs779596322	926	P>L		No	ClinGen ExAC gnomAD
CA73942088 COSM3594900 rs866132965	926	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA
rs749153099 CA73942053	930	E>*		No	ClinGen Ensembl
rs757242524 CA2374722	930	E>V		No	ClinGen ExAC TOPMed gnomAD
rs200604038 CA352642860	931	R>G		No	ClinGen ExAC gnomAD
rs764024950 CA2374720	931	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs200604038 CA2374721	931	R>W		No	ClinGen ExAC gnomAD
CA352642851 rs1456871219	932	E>K		No	ClinGen gnomAD
CA352642810 rs1228188656	933	I>M		No	ClinGen TOPMed
rs1184403850 CA352642799	934	R>Q		No	ClinGen gnomAD
rs755888679 COSM3594899 CA2374719	934	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1244902801 CA352642766	939	N>S		No	ClinGen gnomAD
rs1575400842 CA352642737	941	H>P		No	ClinGen Ensembl
rs1452118152 CA352642735	941	H>Q		No	ClinGen gnomAD
CA352642740 rs1197995194	941	H>Y		No	ClinGen gnomAD
rs759798749 CA2374716	944	Q>L		No	ClinGen ExAC gnomAD
CA352641751 rs1560064212	945	D>G		No	ClinGen Ensembl
COSM5756295	950	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1446023259 CA352641662	952	C>S		No	ClinGen gnomAD
CA352641620 rs763148359	955	E>K		No	ClinGen ExAC TOPMed gnomAD
rs763148359 CA2374695	955	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs111323712 CA73940841	956	L>P		No	ClinGen Ensembl
rs765705712 CA2374693	959	L>F		No	ClinGen ExAC TOPMed gnomAD
CA352641551 rs1448797686	960	E>G		No	ClinGen gnomAD
CA2374691 rs776915481	960	E>K		No	ClinGen ExAC TOPMed gnomAD
CA352641537 rs1575400322	961	V>G		No	ClinGen Ensembl
rs1325102005 CA352641545	961	V>M		No	ClinGen TOPMed
CA352641516 rs1575400287	963	V>A		No	ClinGen Ensembl
rs760962294 CA2374689	963	V>F		No	ClinGen ExAC TOPMed
CA352641498 rs1482048510 COSM1423737	964	E>D	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs199581131 CA352641484	966	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs748794506 CA2374686	966	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2374687 COSM1423736 rs199581131	966	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs199877846 CA2374684	967	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs754855772 CA2374681	968	E>D		No	ClinGen ExAC gnomAD
CA2374682 rs781211924	968	E>K		No	ClinGen ExAC gnomAD
CA2374679 rs780473338	970	E>D		No	ClinGen ExAC gnomAD
CA352641441 rs1378692917	970	E>K		No	ClinGen TOPMed gnomAD
CA352641432 rs1450288644	971	P>S		No	ClinGen gnomAD
CA352641423 rs1368709503	972	P>L		No	ClinGen gnomAD
CA73940729 rs895637558	973	P>A		No	ClinGen Ensembl
rs758616820 CA2374678	975	T>I		No	ClinGen ExAC gnomAD
rs1575400191 CA352641397	975	T>P		No	ClinGen Ensembl
rs1057083927 CA73940722	976	Q>*		No	ClinGen Ensembl
rs1420249405 CA352641377	976	Q>P		No	ClinGen TOPMed
rs939921600 CA73940721	978	H>R		No	ClinGen TOPMed gnomAD
CA2374676 rs765343395	980	T>P		No	ClinGen ExAC gnomAD
TCGA novel	982	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1020952447 CA73940716	984	H>R		No	ClinGen TOPMed gnomAD
rs142167894 CA2374653	987	S>N		No	ClinGen ESP ExAC gnomAD
rs142167894 CA73940390	987	S>T		No	ClinGen ESP ExAC gnomAD
CA73940388 rs944029462	988	Y>C		No	ClinGen Ensembl
CA352641132 rs1232672150	989	E>D		No	ClinGen TOPMed gnomAD
COSM4832402	989	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1301963000 CA352641121	990	A>G		No	ClinGen gnomAD
rs1311509773 CA352641129	990	A>T		No	ClinGen gnomAD
CA352641105 rs1435302182	992	Q>*		No	ClinGen gnomAD
CA352641096 rs1406439946	992	Q>H		No	ClinGen TOPMed
rs1043882360 CA73940353	993	P>A		No	ClinGen TOPMed
CA2374650 rs368968803	993	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs776254417 CA2374648	994	E>V		No	ClinGen ExAC gnomAD
CA352641071 rs1378707660	995	L>F		No	ClinGen gnomAD
CA2374647 rs558173010	996	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA73940263 rs935539866	996	R>H		No	ClinGen TOPMed gnomAD
CA352641042 rs1285243233	997	V>M		No	ClinGen TOPMed
rs1389881930 CA352641029	998	G>R		No	ClinGen gnomAD
rs1189643015 CA352641015	998	G>V		No	ClinGen gnomAD
rs775508033 CA2374645	1002	R>C		No	ClinGen ExAC gnomAD
CA352640951 rs1483657540	1002	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs745606314 CA73940247	1003	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2374643 rs745606314	1003	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs771902026 COSM4715957 CA2374644	1003	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
CA352640902 rs1228921574	1005	G>D		No	ClinGen gnomAD
rs757398640 CA2374641	1005	G>S		No	ClinGen ExAC gnomAD
rs777825603 CA2374639	1006	R>C		No	ClinGen ExAC TOPMed gnomAD
CA352640884 rs1394945556	1006	R>H		No	ClinGen TOPMed gnomAD
rs777825603 CA73940206	1006	R>S		No	ClinGen ExAC TOPMed gnomAD
CA73940198 rs970412716	1007	L>P		No	ClinGen TOPMed
rs1402214759 CA352640867	1008	R>C		No	ClinGen gnomAD
CA2374638 rs756670751	1008	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1428332311 CA352640836	1010	D>E		No	ClinGen gnomAD
CA2374637 rs753209788	1011	S>G		No	ClinGen ExAC gnomAD
rs1169594218 CA352640829	1011	S>N		No	ClinGen gnomAD
rs371623968 CA2374636	1012	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs147701136 CA73940173 COSM329546	1017	V>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP TOPMed
rs1157006147 CA352640639	1018	V>I		No	ClinGen TOPMed gnomAD
CA352640555 rs1182356140	1022	C>R		No	ClinGen gnomAD
COSM4118192	1023	S>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA2374616 rs780271727	1023	S>Y		No	ClinGen ExAC gnomAD
rs200090660 CA2374615	1024	V>M		No	ClinGen ExAC TOPMed gnomAD
rs965822935 CA73940029	1025	G>E		No	ClinGen TOPMed
CA73940016 rs1019062509	1026	H>R		No	ClinGen TOPMed
CA352640480 rs1166031954	1026	H>Y		No	ClinGen TOPMed
COSM1485277	1029	C>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs144428611 COSM1423735 CA2374613	1031	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA2374612 rs139674900	1031	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352640374 rs139674900	1031	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1380340679 CA352640335	1034	T>A		No	ClinGen TOPMed
rs1247829650 CA352640305	1036	M>V		No	ClinGen TOPMed
CA352640262 rs1279643221	1037	P>L		No	ClinGen gnomAD
COSM1423734	1037	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs774258229 CA73939998	1038	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs774258229 CA2374608	1038	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1396943889 CA352640139	1043	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1442163748 CA352640161	1043	W>R		No	ClinGen gnomAD
CA352640132 rs1575398668	1044	C>G		No	ClinGen Ensembl
rs1575398665 CA352640118	1044	C>W		No	ClinGen Ensembl
rs201947390 CA2374606	1046	G>R		No	ClinGen ExAC TOPMed gnomAD
rs201947390 CA352640084	1046	G>W		No	ClinGen ExAC TOPMed gnomAD
CA352640053 rs1412729652	1047	E>G		No	ClinGen gnomAD
CA2374605 rs377498796	1048	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM4118191 rs561091722 CA2374604	1048	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2374603 rs748300609	1049	P>R		No	ClinGen ExAC gnomAD
rs781131965 CA2374602	1050	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA73939962 rs759260268	1050	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2374601 rs759260268	1050	R>P		No	ClinGen ExAC TOPMed gnomAD
CA352639944 rs1254654435	1051	C>S		No	ClinGen gnomAD
rs1206372903 CA352639881	1053	T>I		No	ClinGen TOPMed gnomAD
rs1575398609 CA352639891	1053	T>P		No	ClinGen Ensembl
CA2374599 rs373862990	1054	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2374600 rs373862990	1054	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1284299651 COSM1045792 CA352639877	1054	R>W	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
TCGA novel	1055	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA352639803 rs267599854	1056	A>S		No	ClinGen gnomAD
rs267599854 CA73939930	1056	A>T		No	ClinGen gnomAD
TCGA novel	1058	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA352639716 rs1235476729	1059	E>D		No	ClinGen gnomAD
CA2374597 rs750765233	1061	E>D		No	ClinGen ExAC gnomAD
CA73939919 rs928062406	1061	E>G		No	ClinGen TOPMed
COSM4824384	1061	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1575398513 CA352639578	1065	T>N		No	ClinGen Ensembl
rs755793009 CA2374595	1066	Q>H		No	ClinGen ExAC gnomAD
rs1575398491 CA352639544	1067	C>G		No	ClinGen Ensembl
CA352639490 rs1320338815	1068	P>L		No	ClinGen gnomAD
COSM1045790 CA73939893 rs925476755	1069	A>V	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1171861204 CA352639436	1070	P>L		No	ClinGen gnomAD
COSM4715956 rs751454294	1074	S>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1448468218 CA352639284	1074	S>L		No	ClinGen TOPMed gnomAD
CA2374576 rs780829874	1075	V>G		No	ClinGen ExAC TOPMed gnomAD
CA352639097 rs1378757346	1076	E>D		No	ClinGen gnomAD
COSM4118190	1079	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA352639008 rs751060975	1081	P>H		No	ClinGen ExAC TOPMed gnomAD
CA2374574 rs751060975	1081	P>L		No	ClinGen ExAC TOPMed gnomAD
CA352638999 rs1280781968	1082	V>I		No	ClinGen TOPMed
CA2374572 rs758328241	1084	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA352638906 rs1441398073	1085	G>S		No	ClinGen gnomAD
CA352638884 rs1575397975	1086	T>A		No	ClinGen Ensembl
rs1223782118 CA352638861	1086	T>I		No	ClinGen TOPMed
CA2374570 rs138130529	1087	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2374569 rs749063237	1087	R>H		No	ClinGen ExAC TOPMed gnomAD
rs749063237 CA352638845	1087	R>L		No	ClinGen ExAC TOPMed gnomAD
CA352638835 rs1253370140	1088	V>L		No	ClinGen TOPMed
rs776753109 CA2374568	1089	T>I		No	ClinGen ExAC gnomAD
rs982968589 CA73939735	1090	I>L		No	ClinGen TOPMed
rs1575397931 CA352638735	1094	N>H		No	ClinGen Ensembl
CA352638721 rs1164985949	1094	N>I		No	ClinGen gnomAD
rs1427322417 CA352638663	1097	Q>H		No	ClinGen TOPMed
CA352638648 rs1177068501	1098	H>R		No	ClinGen TOPMed
CA2374567 rs764324462	1098	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA2374566 rs760715409	1099	V>M		No	ClinGen ExAC gnomAD
CA2374565 rs775675765	1107	T>M		No	ClinGen ExAC gnomAD
COSM730669 CA352638480 rs1460333746	1110	G>A	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed
CA73939719 rs745387421	1110	G>R		No	ClinGen Ensembl
CA2374563 rs746362737	1113	C>R		No	ClinGen ExAC
rs1274104358 CA352638429	1115	V>M		No	ClinGen gnomAD
CA73939701 rs577721448	1116	D>N		No	ClinGen gnomAD
rs771202303 CA2374561	1117	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1223097207 CA352638354	1121	E>K		No	ClinGen TOPMed gnomAD
CA2374560 rs749623322	1121	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1575397762 CA352638336	1122	V>G		No	ClinGen Ensembl
COSM4391128	1124	S>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA2374559 rs780758044	1124	S>I		No	ClinGen ExAC gnomAD
rs1236162242 CA352636634	1126	L>F		No	ClinGen gnomAD
CA2374531 rs752973137	1127	V>M		No	ClinGen ExAC TOPMed gnomAD
rs767805799 CA2374530	1130	T>I		No	ClinGen ExAC gnomAD
rs766864463 CA2374527	1131	G>E		No	ClinGen ExAC gnomAD
rs751659760 CA2374528	1131	G>R		No	ClinGen ExAC gnomAD
rs763504378 CA352636290	1138	A>S		No	ClinGen ExAC gnomAD
rs763504378 CA2374526	1138	A>T		No	ClinGen ExAC gnomAD
rs770203210 CA2374524	1139	G>S		No	ClinGen ExAC gnomAD
CA352636232 rs1430503594	1140	A>P		No	ClinGen TOPMed gnomAD
CA352636235 rs1430503594	1140	A>T		No	ClinGen TOPMed gnomAD
rs1400770992 CA352636217	1140	A>V		No	ClinGen gnomAD
CA352636207 rs1187263275	1141	T>I		No	ClinGen TOPMed gnomAD
rs375363817 CA2374521	1142	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1575395043 CA352636091	1145	V>G		No	ClinGen Ensembl
CA2374518 rs770828143	1145	V>M		No	ClinGen ExAC TOPMed gnomAD
rs757439894 CA2374517	1146	P>L		No	ClinGen ExAC TOPMed gnomAD
rs757439894 CA352636080	1146	P>R		No	ClinGen ExAC TOPMed gnomAD
rs538050356 CA2374515	1149	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA73938525 rs538050356	1149	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1308861020 CA352636024	1149	G>R		No	ClinGen gnomAD
CA352635997 rs1413574464	1150	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2374514 rs781605914	1150	R>H		No	ClinGen ExAC gnomAD
COSM6097872	1150	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA2374513 rs781605914	1150	R>P		No	ClinGen ExAC gnomAD
rs1315270724 CA352635942	1152	V>D		No	ClinGen TOPMed gnomAD
rs1223318462 CA352635935	1153	S>T		No	ClinGen TOPMed
rs755249183 CA2374512	1155	H>Y		No	ClinGen ExAC gnomAD
rs1168824980 CA352635850	1156	D>N		No	ClinGen gnomAD
rs766495731 CA2374510	1156	D>V		No	ClinGen ExAC gnomAD
TCGA novel	1161	D>I	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA352635583 rs1318645235	1161	D>N		No	ClinGen gnomAD
CA2374487 rs764453804	1162	P>L		No	ClinGen ExAC gnomAD
rs561101657 CA2374485	1163	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA352635466 rs1393089729	1164	V>A		No	ClinGen gnomAD
CA2374484 rs765898298	1164	V>F		No	ClinGen ExAC gnomAD
CA2374483 rs762572912	1165	H>R		No	ClinGen ExAC gnomAD
CA352635433 rs1454466002	1166	S>F		No	ClinGen gnomAD
CA73938331 rs893664029	1167	I>L		No	ClinGen gnomAD
rs1190407192 CA352635355	1169	P>L		No	ClinGen gnomAD
rs1190407192 CA352635371	1169	P>R		No	ClinGen gnomAD
CA73938309 rs566496549	1171	R>C		No	ClinGen TOPMed gnomAD
CA2374480 rs139742850	1171	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1235417716 CA352635265	1172	G>D		No	ClinGen gnomAD
rs200621802 CA2374477	1179	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560197405 CA2374476	1179	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA73938305 rs865938931	1180	L>F		No	ClinGen Ensembl
CA352635032 rs1421478257	1181	T>I		No	ClinGen gnomAD
CA73938302 rs954109295	1185	S>C		No	ClinGen TOPMed gnomAD
rs954109295 CA352634934	1185	S>F		No	ClinGen TOPMed gnomAD
CA352634916 rs1320855356	1186	K>N		No	ClinGen Ensembl
rs1046270182 CA73938297	1186	K>Q		No	ClinGen gnomAD
rs778946922 CA2374473	1191	R>L		No	ClinGen ExAC gnomAD
rs778946922 CA2374472	1191	R>Q		No	ClinGen ExAC gnomAD
CA2374474 rs375755801	1191	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2374471 rs757267352	1193	E>K		No	ClinGen ExAC gnomAD
rs1242235290 CA352634780	1193	E>V		No	ClinGen gnomAD
CA352634735 rs1313365880	1195	I>V		No	ClinGen TOPMed
rs866290602 CA73938291	1196	R>*		No	ClinGen gnomAD
CA352634707 rs1349354792	1196	R>Q		No	ClinGen TOPMed
CA73938275 rs990076619	1198	V>L		No	ClinGen TOPMed gnomAD
CA73938264 rs200354996	1199	V>G		No	ClinGen Ensembl
rs1214252018 CA352634631	1200	G>E		No	ClinGen gnomAD
CA2374467 rs752981946	1201	D>G		No	ClinGen ExAC gnomAD
rs1350698895 CA352634575	1202	Q>K		No	ClinGen TOPMed
rs1353492783 CA352634529	1203	P>L		No	ClinGen gnomAD
CA352634537 rs1171787464	1203	P>S		No	ClinGen gnomAD
CA352634510 rs1312273820	1204	C>Y		No	ClinGen gnomAD
CA352634367 rs1406354269	1206	L>F		No	ClinGen gnomAD
rs986979403 CA73938074	1208	P>L		No	ClinGen TOPMed gnomAD
CA352634330 rs1234951362	1208	P>S		No	ClinGen gnomAD
CA352634267 rs1358715437	1210	Q>*		No	ClinGen TOPMed
CA73938064 rs1037725837	1211	Q>H		No	ClinGen Ensembl
rs1273926726 CA352634190	1213	E>K		No	ClinGen gnomAD
rs771028218 CA2374454	1216	R>L		No	ClinGen ExAC TOPMed gnomAD
rs771028218 CA73938047	1216	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA73938048 COSM5708791 rs942014196	1216	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
CA352634070 rs1315822373	1217	C>Y		No	ClinGen gnomAD
rs1223139477 CA352634027 COSM3940552	1218	E>D	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1575393638 CA352634020	1219	T>P		No	ClinGen Ensembl
CA352633999 rs1311148774	1220	S>G		No	ClinGen gnomAD
rs1438304573 CA352633988	1220	S>N		No	ClinGen gnomAD
CA352633968 rs1458937722	1221	P>R		No	ClinGen gnomAD
CA352633975 rs1326017013	1221	P>S		No	ClinGen TOPMed gnomAD
rs749315971 CA2374453	1222	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA352633956 rs1159093912	1222	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA352633951 rs1159093912	1222	R>L		No	ClinGen TOPMed gnomAD
CA352633947 rs1401773318	1223	P>A		No	ClinGen gnomAD
rs1401773318 CA352633944	1223	P>T		No	ClinGen gnomAD
CA352633924 rs778301118	1224	T>K		No	ClinGen ExAC TOPMed gnomAD
rs778301118 CA2374452	1224	T>M		No	ClinGen ExAC TOPMed gnomAD
CA352633933 rs1575393531	1224	T>P		No	ClinGen Ensembl
CA2374450 rs201059787	1227	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352633829 rs1287933420	1229	P>L		No	ClinGen TOPMed gnomAD
CA352633831 rs1287933420	1229	P>R		No	ClinGen TOPMed gnomAD
rs1317406962 CA352633840	1229	P>S		No	ClinGen gnomAD
CA352633818 rs1231737806	1230	V>A		No	ClinGen gnomAD
CA73937988 rs966652359	1230	V>M		No	ClinGen TOPMed
rs764937055 CA2374446	1231	A>S		No	ClinGen ExAC TOPMed gnomAD
rs754565865 CA2374445	1231	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1575393399 CA352633782	1232	V>G		No	ClinGen Ensembl
CA352633722 rs1388142528	1235	G>E		No	ClinGen gnomAD
CA73937965 rs76419720	1235	G>W		No	ClinGen Ensembl
CA352633707 rs1359319909	1236	A>V		No	ClinGen gnomAD
rs539447851 CA2374444	1237	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352633694 rs1362954535	1238	E>K		No	ClinGen TOPMed gnomAD
CA352633675 rs1326883970	1239	R>Q		No	ClinGen TOPMed
TCGA novel	1239	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA73937958 rs1013389168	1243	R>C		No	ClinGen TOPMed gnomAD
rs571547770 CA2374442	1243	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2374440 rs771766219	1244	G>R		No	ClinGen ExAC gnomAD
rs759284081 CA2374439	1245	Q>H		No	ClinGen ExAC gnomAD
rs556198840 CA73937930	1245	Q>L		No	ClinGen 1000Genomes
rs1187140451 CA352633572	1246	F>L		No	ClinGen gnomAD
rs774577806 CA2374438	1248	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs774577806 CA352633544	1248	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA352633533 rs1575393282	1249	T>P		No	ClinGen Ensembl
rs200392198 CA73937917	1250	L>M		No	ClinGen 1000Genomes TOPMed
CA352633458 rs1409311075	1252	P>L		No	ClinGen TOPMed
COSM3365207 CA352633444 rs1256351609	1253	N>S	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA73937898 rs914796738	1254	I>V		No	ClinGen TOPMed gnomAD
CA352633405 rs1560057838	1255	T>I		No	ClinGen Ensembl
CA352633414 rs1575393228	1255	T>P		No	ClinGen Ensembl
CA352633354 rs1294261553	1258	G>D		No	ClinGen gnomAD
rs1342941505 CA352633341	1259	P>H		No	ClinGen gnomAD
rs1036681741 CA73937893	1260	T>A		No	ClinGen TOPMed gnomAD
CA352633328 rs771118029	1260	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2374437 rs771118029	1260	T>N		No	ClinGen ExAC TOPMed gnomAD
CA352633290 rs1414692068	1262	S>N		No	ClinGen gnomAD
CA73937652 rs202071742	1265	S>R		No	ClinGen 1000Genomes
rs368789794 CA2374413	1267	G>E		No	ClinGen ESP ExAC gnomAD
rs1189370901 CA352633093 COSM1045786	1268	R>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1417151654 CA352633083	1268	R>H		No	ClinGen gnomAD
TCGA novel	1269	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs532773707 CA2374412	1271	C>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs532773707 CA2374411	1271	C>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA352633016 rs1575392582	1272	V>A		No	ClinGen Ensembl
COSM1045784 CA352633024 rs1560057334	1272	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2374408 COSM1045782 rs777440373	1273	R>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2374407 rs755598840	1273	R>H		No	ClinGen ExAC TOPMed gnomAD
CA352632982 rs755598840	1273	R>L		No	ClinGen ExAC TOPMed gnomAD
CA352633007 rs777440373	1273	R>S		No	ClinGen ExAC TOPMed gnomAD
CA2374406 rs752228229	1276	N>S		No	ClinGen ExAC gnomAD
rs751412477 CA2374403	1278	D>A		No	ClinGen ExAC gnomAD
rs766168207 CA73937596	1278	D>E		No	ClinGen ExAC gnomAD
rs751412477 CA2374404	1278	D>G		No	ClinGen ExAC gnomAD
rs762697119 CA352632863	1279	V>L		No	ClinGen ExAC TOPMed gnomAD
rs762697119 CA2374401	1279	V>M		No	ClinGen ExAC TOPMed gnomAD
rs773331063 CA2374400	1281	Q>*		No	ClinGen ExAC gnomAD
CA352632804 rs1168549005	1281	Q>H		No	ClinGen TOPMed
rs765476248 CA2374399	1282	T>M		No	ClinGen ExAC TOPMed gnomAD
CA2374397 rs776770702	1284	R>G		No	ClinGen ExAC TOPMed gnomAD
rs776068215 CA2374394	1286	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2374395 rs747535857	1286	R>W		No	ClinGen ExAC TOPMed gnomAD
rs74505291 CA73937534	1287	V>G		No	ClinGen Ensembl
rs1441180869 CA352632620	1288	T>S		No	ClinGen TOPMed gnomAD
rs777336486 CA2374391	1289	V>A		No	ClinGen ExAC TOPMed gnomAD
rs777336486 CA352632601	1289	V>G		No	ClinGen ExAC TOPMed gnomAD
rs746191515 CA352632605	1289	V>L		No	ClinGen ExAC TOPMed gnomAD
rs746191515 CA2374392	1289	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2374390 rs755759158	1290	V>I		No	ClinGen ExAC gnomAD
rs143732573 CA2374388	1291	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143732573 CA2374389	1291	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2374385 rs146993823	1293	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1402153223 CA352632520	1293	M>V		No	ClinGen gnomAD
rs1560056996 CA352632379	1298	Q>*		No	ClinGen Ensembl
rs1041744329 CA73937481	1300	L>V		No	ClinGen Ensembl
rs1560056953	1301	G>NLASGCRPQRYTRRTFLRRCP*		No	Ensembl
rs562471194 CA2374382	1302	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1239878 CA352632304 rs1437438490	1302	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM3594896	1303	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA352632282 COSM1262584 rs1316273585	1304	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs370612794 CA2374381	1304	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA352632278 rs370612794	1304	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs753953438 CA2374380	1305	R>C		No	ClinGen ExAC gnomAD
CA2374379 COSM1221294 rs764270397	1305	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs764270397 CA352632271	1305	R>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1306	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA2374375 CA2374376 rs144825092	1306	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2374374 rs144825092	1306	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2374371 rs780783476	1308	P>L		No	ClinGen ExAC TOPMed gnomAD
rs780783476 CA2374372	1308	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs780783476 CA2374373	1308	P>R		No	ClinGen ExAC TOPMed gnomAD
CA2374369 rs746500738	1309	E>K		No	ClinGen ExAC TOPMed gnomAD
rs377336537 CA2374368	1310	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA73937430 rs867134358	1311	A>T		No	ClinGen Ensembl
rs750245372 CA2374366	1311	A>V		No	ClinGen ExAC TOPMed gnomAD
rs778786389 CA2374365	1312	C>S		No	ClinGen ExAC gnomAD
CA352632196 rs1228214382	1312	C>Y		No	ClinGen TOPMed
rs1347346167 CA352632187	1313	S>C		No	ClinGen gnomAD
CA2374364 rs756939736	1313	S>T		No	ClinGen ExAC gnomAD
CA352632177 rs1318962974	1314	L>F		No	ClinGen gnomAD
rs754117058 CA73937415	1316	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2374363 rs754117058	1316	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1575392122 CA352632145	1317	S>A		No	ClinGen Ensembl
CA352632134 rs764358646	1318	C>G		No	ClinGen ExAC gnomAD
CA2374362 rs764358646	1318	C>R		No	ClinGen ExAC gnomAD
rs1339761410 CA352632114	1319	S>T		No	ClinGen gnomAD
rs1281165624 CA352630630	1324	E>K		No	ClinGen TOPMed
CA352630585 rs1172141459	1325	E>G		No	ClinGen gnomAD
CA2374344 rs149155498	1326	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2374342 rs193118403	1328	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2374340 rs145614428	1329	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2374339 rs766775375	1330	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1010261814 CA73936369	1335	I>V		No	ClinGen Ensembl
rs773563319 CA2374337	1336	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2374336 rs369371211	1338	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1221290 CA2374335 rs149435305	1338	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA352630197 rs369371211	1338	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA73936343 rs906124519	1340	P>S		No	ClinGen Ensembl
rs775060441 CA2374334 COSM1186279	1341	A>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs12630957 CA73936342	1346	P>H		No	ClinGen Ensembl
rs557274794 CA2374333	1348	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2374331 rs774392736	1352	R>Q		No	ClinGen ExAC TOPMed
rs745313142 COSM4636730 CA2374332	1352	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1188062561 CA352629876	1353	V>L		No	ClinGen gnomAD
rs749159832 CA2374328	1359	N>K		No	ClinGen ExAC
rs1459350857 CA352629704	1359	N>S		No	ClinGen gnomAD
CA73936303 rs140723221	1360	L>V		No	ClinGen ESP TOPMed gnomAD
TCGA novel	1363	D>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1363	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA2374327 rs371139590	1364	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA352629450 rs1406284235	1369	P>A		No	ClinGen gnomAD
CA352629449 rs1406284235	1369	P>S		No	ClinGen gnomAD
CA73936267 rs868776100	1374	Y>H		No	ClinGen Ensembl
rs567555715 CA73936263	1375	E>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs567555715 CA352629302	1375	E>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1194673336 CA352629271	1377	D>A		No	ClinGen TOPMed
rs1194673336 CA352629268	1377	D>G		No	ClinGen TOPMed
CA2374324 rs781222547	1377	D>N		No	ClinGen ExAC gnomAD
rs368567953 CA2374323	1378	P>A		No	ClinGen ESP ExAC gnomAD
CA352629237 rs1247343978	1379	T>P		No	ClinGen gnomAD
CA352629203 rs1575391480	1380	L>R		No	ClinGen Ensembl
CA73936226 rs749498138	1380	L>V		No	ClinGen Ensembl
rs1281912007 CA352629199	1381	Q>K		No	ClinGen gnomAD
CA352629185 rs1162261564	1381	Q>R		No	ClinGen TOPMed
rs1392750901 CA352629161	1382	P>S		No	ClinGen TOPMed
rs199678172 CA2374322	1383	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1327237275 CA352629122	1383	L>R		No	ClinGen TOPMed
CA73936178 rs982578619	1388	P>L		No	ClinGen TOPMed
rs940402871 CA73936209	1388	P>S		No	ClinGen Ensembl
CA2374321 rs766978363	1392	F>L		No	ClinGen ExAC gnomAD
rs778052248 CA352628931	1393	R>L		No	ClinGen ExAC gnomAD
rs778052248 CA2374319	1393	R>Q		No	ClinGen ExAC gnomAD
rs758895777 CA2374320	1393	R>W		No	ClinGen ExAC TOPMed gnomAD
rs765593992 CA2374318	1394	H>P		No	ClinGen ExAC gnomAD
CA2374317 rs762129869	1395	K>Q		No	ClinGen ExAC gnomAD
CA2374316 rs199795107	1396	P>A		No	ClinGen ExAC TOPMed gnomAD
rs199795107 CA352628885	1396	P>T		No	ClinGen ExAC TOPMed gnomAD
CA352628869 rs1267375454	1397	G>R		No	ClinGen TOPMed gnomAD
CA73936137 rs975017312	1398	S>R		No	ClinGen TOPMed gnomAD
CA2374313 rs773727501	1402	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2374289 rs776274609	1405	E>G		No	ClinGen ExAC gnomAD
CA2374288 rs564348491	1411	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1457999510 CA352628413	1412	S>F		No	ClinGen TOPMed
CA352628396 rs1192992974	1413	K>R		No	ClinGen TOPMed
rs944583718 CA73935453	1414	E>K		No	ClinGen Ensembl
TCGA novel	1415	E>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM4118189	1415	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA352628347 rs1304869943	1415	E>G		No	ClinGen gnomAD
CA2374286 rs747198026	1419	M>I		No	ClinGen ExAC gnomAD
rs891625166 CA73935451	1419	M>V		No	ClinGen TOPMed gnomAD
CA2374285 COSM446648 rs780280044	1421	G>R	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs757759956 CA2374279	1426	V>A		No	ClinGen ExAC gnomAD
CA352628097 rs1560054699	1427	V>L		No	ClinGen Ensembl
CA2374278 rs754288858	1429	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	1430	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs756435129 CA2374276	1431	T>M		No	ClinGen ExAC gnomAD
CA73935402 rs925869331	1432	R>Q		No	ClinGen TOPMed
rs749282758 CA2374274	1432	R>W		No	ClinGen ExAC TOPMed gnomAD
rs187964377 CA2374273	1433	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1422727092 CA352627993	1436	Y>C		No	ClinGen gnomAD
CA2374271 rs765321352	1438	E>D		No	ClinGen ExAC gnomAD
rs1392886910 CA352627969	1438	E>K		No	ClinGen TOPMed
CA352627955 rs1302106996	1439	P>A		No	ClinGen TOPMed
CA352627953 rs1302106996	1439	P>S		No	ClinGen TOPMed
COSM3594894	1440	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1212805223 CA352627927	1441	V>E		No	ClinGen TOPMed
COSM4118188 CA73935386 rs773519434	1441	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs1332134483 CA352627915	1443	Q>E		No	ClinGen gnomAD
rs546655517 CA2374263	1447	R>W		No	ClinGen ExAC TOPMed gnomAD
CA352627887 rs1368868840	1448	H>N		No	ClinGen TOPMed gnomAD
CA352627860 rs1476964804	1450	A>T		No	ClinGen gnomAD
CA2374260 rs749766151	1450	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1237113269 CA352627839	1452	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2374259 rs778304224	1452	R>Q		No	ClinGen ExAC gnomAD
rs1209810106 CA352627805	1455	P>S		No	ClinGen TOPMed gnomAD
COSM4118187	1456	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1164681397	1458	L>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs143908107 CA73935371	1459	P>S		No	ClinGen 1000Genomes
CA352627741 rs1488416987	1460	E>Q		No	ClinGen gnomAD
rs546330250 CA2374257	1462	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770948728 CA2374243	1465	M>L		No	ClinGen ExAC TOPMed gnomAD
CA73935312 rs963461084	1467	N>S		No	ClinGen TOPMed gnomAD
COSM4118186	1468	L>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1488196502 CA352627587	1469	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2374242 rs749341035	1469	R>H		No	ClinGen ExAC TOPMed gnomAD
CA352627538 rs1575389058	1474	H>Y		No	ClinGen Ensembl
rs1274353613 CA352627527	1475	V>M		No	ClinGen TOPMed gnomAD
CA73935305 rs1015751591	1477	Y>C		No	ClinGen gnomAD
rs755325119 CA2374237	1479	G>D		No	ClinGen ExAC gnomAD
CA2374238 rs781699302	1479	G>S		No	ClinGen ExAC gnomAD
rs983482613 CA73935269	1480	E>K		No	ClinGen TOPMed gnomAD
rs778656413 CA2374235	1481	S>N		No	ClinGen ExAC gnomAD
rs1485156094 CA352627408	1482	P>S		No	ClinGen TOPMed
rs756763755 CA2374234	1484	A>T		No	ClinGen ExAC gnomAD
rs34958067 CA2374233	1487	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2374232 rs764009376	1489	A>G		No	ClinGen ExAC gnomAD
rs1575388920 CA352627263	1491	V>G		No	ClinGen Ensembl
rs756068726 CA2374231	1491	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1028539553 CA73935264	1492	G>D		No	ClinGen TOPMed gnomAD
CA73935263 rs866897057	1494	G>V		No	ClinGen Ensembl
rs1575388884 CA352627200	1495	V>G		No	ClinGen Ensembl
CA2374230 rs752576318	1495	V>L		No	ClinGen ExAC gnomAD
rs767306563 CA2374229	1496	G>R		No	ClinGen ExAC gnomAD
CA352627065 rs1440917861	1501	A>V		No	ClinGen gnomAD
CA73935254 rs964344942	1503	G>C		No	ClinGen TOPMed
CA2374228 rs759288511	1506	I>V		No	ClinGen ExAC TOPMed gnomAD
rs751803351 CA2374227	1507	I>V		No	ClinGen ExAC TOPMed gnomAD
CA352626922 rs1347274402	1509	L>F		No	ClinGen gnomAD
CA352626889 rs778797402	1510	M>K		No	ClinGen TOPMed
CA352626894 rs1276346512	1510	M>L		No	ClinGen gnomAD
rs778797402 CA73935236	1510	M>R		No	ClinGen TOPMed
rs1173220760 CA352626693	1513	R>K		No	ClinGen gnomAD
rs1404060695 CA352626653	1514	K>N		No	ClinGen TOPMed gnomAD
rs1413558478 CA352626640 COSM254897	1515	S>N	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA352626597 rs1164148671	1517	Q>*		No	ClinGen gnomAD
rs1164148671 CA352626602	1517	Q>K		No	ClinGen gnomAD
TCGA novel	1517	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA352626578 rs1473905523	1518	A>T		No	ClinGen gnomAD
rs766567167 CA2374208	1519	L>R		No	ClinGen ExAC gnomAD
rs1240068411 CA352626519	1521	D>H		No	ClinGen gnomAD
COSM75992	1523	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA2374205 rs765388159	1524	K>E		No	ClinGen ExAC gnomAD
CA2374204 rs761932668	1527	I>T		No	ClinGen ExAC gnomAD
CA352626363 rs1228610792	1528	Q>*		No	ClinGen gnomAD
CA352626346 rs1361327768	1528	Q>H		No	ClinGen gnomAD
CA352626237 rs1377039224	1533	E>G		No	ClinGen gnomAD
rs1299342348 CA352626224	1534	S>N		No	ClinGen gnomAD
rs1434975059 CA352626208	1535	S>N		No	ClinGen TOPMed gnomAD
rs1237801454 CA352626195	1536	V>M		No	ClinGen TOPMed
CA352626171 COSM1045778 rs1427018671	1537	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA73934874 rs866211567	1537	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA352626165 rs1575387565	1538	D>N		No	ClinGen Ensembl
TCGA novel	1538	D>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA2374200 rs775913728	1539	R>C		No	ClinGen ExAC gnomAD
CA352626141 rs141892969	1539	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2374199 rs141892969	1539	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1542	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA352626089 rs1257759326	1543	E>A		No	ClinGen gnomAD
CA2374197 rs375686054	1544	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1545	T>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
CA352625246 rs1439822154	1547	L>F		No	ClinGen TOPMed
rs763098380 CA73934725	1548	M>I		No	ClinGen Ensembl
CA2374173 rs369462876	1549	T>S		No	ClinGen ESP ExAC gnomAD
rs757535663 CA2374170	1553	D>N		No	ClinGen ExAC TOPMed gnomAD
COSM1692733 CA2374169 rs754058854	1554	L>F	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs754058854 CA352625199	1554	L>I		No	ClinGen ExAC gnomAD
rs1465701347 CA352625194	1555	T>A		No	ClinGen gnomAD
CA352625190 rs1022815355	1555	T>I		No	ClinGen Ensembl
CA73934708 rs1022815355	1555	T>S		No	ClinGen Ensembl
rs1359844735 CA352625184	1556	S>N		No	ClinGen gnomAD
rs1470922230 CA352625171	1558	L>F		No	ClinGen gnomAD
rs753272800 CA2374166	1558	L>H		No	ClinGen ExAC TOPMed gnomAD
CA352625170 rs753272800	1558	L>P		No	ClinGen ExAC TOPMed gnomAD
COSM4118184	1559	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA352625132 rs1224067185	1564	P>L		No	ClinGen Ensembl
CA2374162 rs764928220	1567	D>A		No	ClinGen ExAC TOPMed gnomAD
CA2374163 rs377141484	1567	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1375935497 CA352625105	1568	Y>C		No	ClinGen gnomAD
CA352625108 rs1204947500	1568	Y>D		No	ClinGen gnomAD
rs1235767219 CA352625101	1569	K>E		No	ClinGen TOPMed
rs1315531880 CA352625098	1569	K>R		No	ClinGen gnomAD
rs776226711 CA2374160	1570	V>M		No	ClinGen ExAC
CA352625084 rs1309671054	1571	Y>F		No	ClinGen gnomAD
CA2374156 rs771895126	1572	A>G		No	ClinGen ExAC TOPMed gnomAD
CA2374158 rs200470824 COSM4118183	1572	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD
CA2374157 rs771895126	1572	A>V		No	ClinGen ExAC TOPMed gnomAD
COSM6164916 CA352625067 rs1338784494 COSM1538021	1574	R>T	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD
CA2374153 rs757049771	1580	H>Y		No	ClinGen ExAC gnomAD
rs765555201 CA73934641	1581	R>C		No	ClinGen TOPMed gnomAD
TCGA novel	1581	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs778095977 CA2374151	1582	E>K		No	ClinGen ExAC gnomAD
rs756267454 CA2374150	1583	S>L		No	ClinGen ExAC gnomAD
CA2374149 rs752689854	1584	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1035566146 CA73934622	1586	H>D		No	ClinGen TOPMed gnomAD
CA352624984 rs1237004004	1587	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM5520961 rs1004255185 CA73934615	1587	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1466610892 CA352624969	1589	L>R		No	ClinGen TOPMed
rs1481875968 CA352624972	1589	L>V		No	ClinGen TOPMed gnomAD
CA352624965 rs1388745479	1590	G>D		No	ClinGen TOPMed
CA2374146 rs755426926	1591	V>M		No	ClinGen ExAC TOPMed gnomAD
rs766760689 CA2374144	1596	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2374145 rs752036265	1596	R>W		No	ClinGen ExAC TOPMed gnomAD
CA352624898 rs1376303207	1601	Q>E		No	ClinGen gnomAD
TCGA novel	1603	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA352624880 rs1332068017	1604	G>R		No	ClinGen gnomAD
rs1357908333 CA352624847	1608	N>K		No	ClinGen TOPMed
CA352624791 rs1575386612	1617	T>P		No	ClinGen Ensembl
rs781424446 CA2374106	1620	I>V		No	ClinGen ExAC TOPMed gnomAD
CA352624740 rs943454138	1622	T>M		No	ClinGen TOPMed gnomAD
CA73934433 rs943454138	1622	T>R		No	ClinGen TOPMed gnomAD
CA73934427 rs370036162	1625	S>R		No	ClinGen ESP
rs200158236 CA2374100	1627	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200158236 CA2374101	1627	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1423730 rs746314397 CA2374099	1627	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs968508011 CA73934418	1630	S>L		No	ClinGen Ensembl
COSM4118182	1630	S>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs752317700 CA2374097	1631	A>P		No	ClinGen ExAC gnomAD
rs752317700 CA2374096	1631	A>S		No	ClinGen ExAC gnomAD
rs371302235 CA2374094	1632	R>Q		No	ClinGen ESP ExAC gnomAD
rs145054344 CA2374095	1632	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs367774740 CA2374093 COSM1538022	1634	R>C	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
COSM1423729 CA73934409 rs989062893	1634	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
CA352624666 rs1171425319	1635	A>D		No	ClinGen gnomAD
CA352624660 rs1374062755	1636	Y>C		No	ClinGen TOPMed
rs766482264 CA2374092	1637	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1638	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs969789991 CA73934384	1640	L>P		No	ClinGen TOPMed
TCGA novel	1643	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs764962062 CA2374089	1645	L>V		No	ClinGen ExAC gnomAD
CA352624598 rs1300076770	1647	G>R		No	ClinGen gnomAD
rs761645327 CA2374088	1648	K>N		No	ClinGen ExAC TOPMed gnomAD
CA352624589 rs1195643991	1648	K>T		No	ClinGen TOPMed gnomAD
rs1204305477 CA352624550	1653	T>I		No	ClinGen gnomAD
rs747145943 CA2374085	1656	L>I		No	ClinGen ExAC gnomAD
CA2374084 rs775555708	1657	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201958427 CA2374083	1657	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA73934296 rs1047948085	1659	L>V		No	ClinGen TOPMed gnomAD
COSM3373209	1660	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs899924493 CA73934293	1661	S>R		No	ClinGen Ensembl
rs1039726260 CA73934292	1663	L>V		No	ClinGen Ensembl
rs373843466 CA73934291	1667	Y>C		No	ClinGen ESP TOPMed gnomAD
rs749637446 CA352624406	1673	K>M		No	ClinGen ExAC gnomAD
CA2374079 rs749637446	1673	K>R		No	ClinGen ExAC gnomAD
rs1302951753 CA352624384	1675	M>V		No	ClinGen TOPMed
CA2374076 rs751201220	1677	R>H		No	ClinGen ExAC gnomAD
CA352624344 rs751201220	1677	R>L		No	ClinGen ExAC gnomAD
CA2374050 rs753647734	1682	V>M		No	ClinGen ExAC gnomAD
rs574218254 CA2374048	1686	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1410213986 CA352624120	1687	L>F		No	ClinGen gnomAD
TCGA novel	1694	C>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1171350112 CA352623984	1697	T>N		No	ClinGen TOPMed
CA2374040 rs770330377	1699	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2374022 rs199685114	1701	D>N		No	ClinGen ExAC TOPMed gnomAD
COSM3070238	1702	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1381561597 CA352623791	1703	V>A		No	ClinGen TOPMed
rs770418417 CA2374020	1703	V>I		No	ClinGen ExAC TOPMed gnomAD
CA352623679 rs1337358773	1709	M>L		No	ClinGen gnomAD
CA73933884 rs148163927	1709	M>T		No	ClinGen ESP TOPMed gnomAD
CA352623682 rs1337358773	1709	M>V		No	ClinGen gnomAD
CA352623653 rs1371152016	1710	L>V		No	ClinGen gnomAD
CA2374018 rs777148589	1711	F>S		No	ClinGen ExAC gnomAD
COSM1692732	1712	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3824057 CA352623607 rs1181346044	1712	R>Q	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
COSM3916205	1715	K>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs745561901 CA2374016	1723	V>A		No	ClinGen ExAC gnomAD
CA352623312 rs1243174578	1725	S>T		No	ClinGen gnomAD
rs752372838 CA73933860	1726	V>E		No	ClinGen ExAC gnomAD
rs752372838 CA2374015	1726	V>G		No	ClinGen ExAC gnomAD
CA2374014 rs538732324	1727	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1193926713 CA352623260	1728	G>S		No	ClinGen TOPMed gnomAD
rs748718753 CA2374013	1733	T>P		No	ClinGen ExAC gnomAD
CA73933805 rs974391074	1735	N>S		No	ClinGen TOPMed
rs1310913666 CA352623078 COSM730671	1736	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD
rs76762037 CA352623051	1737	N>S		No	ClinGen TOPMed
rs76762037 CA73933775	1737	N>T		No	ClinGen TOPMed
rs1018247535 CA73933773	1738	R>C		No	ClinGen Ensembl
CA352622948 rs1223158628 CA352622952	1742	E>D		No	ClinGen TOPMed gnomAD
CA2374010 rs201421515	1747	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2374009 rs146664022	1747	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2374007 rs751830368	1748	P>H		No	ClinGen ExAC gnomAD
rs754691632 CA2374008	1748	P>S		No	ClinGen ExAC gnomAD
rs780380203 CA2373989	1750	T>A		No	ClinGen ExAC gnomAD
CA352622597 rs1203583684	1753	A>P		No	ClinGen gnomAD
rs765434995 CA2373986	1757	V>G		No	ClinGen ExAC TOPMed gnomAD
rs201356451 CA2373985	1758	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2373982 rs761171235	1759	P>H		No	ClinGen ExAC TOPMed gnomAD
rs764474142 CA2373983	1759	P>S		No	ClinGen ExAC gnomAD
COSM1328183	1760	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA352621644 rs1317204446	1760	G>E		No	ClinGen TOPMed
rs970767323 CA73933260	1762	G>E		No	ClinGen TOPMed
rs762599038 CA2373979	1766	G>A		No	ClinGen ExAC gnomAD
rs1380133484 CA352621606	1766	G>C		No	ClinGen gnomAD
rs762599038 CA2373978	1766	G>D		No	ClinGen ExAC gnomAD
rs149655601 CA2373976	1767	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2373975 rs149655601	1767	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776695232 CA2373974	1768	P>T		No	ClinGen ExAC TOPMed gnomAD
rs898240195 CA352621594	1769	V>L		No	ClinGen TOPMed
CA73933254 rs898240195	1769	V>M		No	ClinGen TOPMed
rs779717675 CA2373971	1772	L>V		No	ClinGen ExAC gnomAD
rs746112480 CA2373969	1780	A>P		No	ClinGen ExAC gnomAD
rs779252877 CA2373968	1782	E>K		No	ClinGen ExAC gnomAD
rs547266852 CA2373967	1784	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA2373966 rs753861049	1787	Q>H		No	ClinGen ExAC gnomAD
CA352621337 rs1324046480	1788	L>V		No	ClinGen gnomAD
rs778406147 CA2373965	1789	Y>C		No	ClinGen ExAC gnomAD
CA352621260 rs1325422202	1797	R>Q		No	ClinGen gnomAD
rs564807349 CA73933221	1798	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs564807349 CA2373963	1798	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA73933217 rs889603518	1799	D>H		No	ClinGen Ensembl
rs368118185 CA2373962	1800	P>S		No	ClinGen ESP ExAC TOPMed
rs759846178 COSM1045776 CA2373961	1801	R>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs374981436 CA2373960	1801	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA352621234 rs1431917929	1802	T>N		No	ClinGen gnomAD
rs1166448197 CA352621231	1803	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	1805	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs753489399 CA2373940	1806	E>A		No	ClinGen ExAC TOPMed gnomAD
rs775327323 CA2373937	1808	R>Q		No	ClinGen ExAC gnomAD
CA2373939 rs374441946	1808	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs759464610 CA2373936	1809	S>A		No	ClinGen ExAC gnomAD
CA73933033 rs78788465	1809	S>C		No	ClinGen Ensembl
CA2373935 rs759464610	1809	S>P		No	ClinGen ExAC gnomAD
CA2373933 rs770786389	1811	V>G		No	ClinGen ExAC gnomAD
CA2373932 rs749508625	1812	A>G		No	ClinGen ExAC TOPMed gnomAD
rs749508625 CA352621163	1812	A>V		No	ClinGen ExAC TOPMed gnomAD
rs769815192 CA73932996	1813	G>R		No	ClinGen ExAC gnomAD
rs769815192 CA2373930	1813	G>W		No	ClinGen ExAC gnomAD
rs781715545 CA2373928	1814	H>D		No	ClinGen ExAC
rs781715545 CA352621157	1814	H>Y		No	ClinGen ExAC
rs747448432 CA2373926	1820	E>V		No	ClinGen ExAC gnomAD
CA2373925 rs780427702	1822	V>I		No	ClinGen ExAC gnomAD
CA2373924 rs758741306	1823	T>S		No	ClinGen ExAC gnomAD
rs1184156604 CA352621091	1824	S>A		No	ClinGen gnomAD
rs928007164 CA73932951	1824	S>F		No	ClinGen Ensembl
rs753478735 CA2373923	1829	L>P		No	ClinGen ExAC gnomAD
CA352621044 rs1222728435	1831	R>K		No	ClinGen gnomAD
rs367699873 CA73932950	1832	R>C		No	ClinGen ESP TOPMed gnomAD
CA2373922 COSM1045774 rs140052429	1832	R>H	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs950909431 CA73932946	1835	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA352620965 rs1575381813	1841	V>G		No	ClinGen Ensembl
CA2373910 rs776693544	1841	V>I		No	ClinGen ExAC gnomAD
rs747532798 CA2373908	1842	P>L		No	ClinGen ExAC gnomAD
rs1323318501 CA352620956	1843	D>G		No	ClinGen gnomAD
CA2373907 rs758729631	1844	G>A		No	ClinGen ExAC gnomAD
rs758729631 CA2373906	1844	G>E		No	ClinGen ExAC gnomAD
CA352620947 rs1303550336	1845	A>T		No	ClinGen TOPMed
CA352620937 rs1221159254	1846	T>N		No	ClinGen gnomAD
CA352620930 rs1575381761	1847	V>G		No	ClinGen Ensembl
rs780847915 CA73932860	1848	A>V		No	ClinGen Ensembl
rs1383956129 CA352620924	1849	L>V		No	ClinGen TOPMed
CA352620915 rs1575381722	1850	V>A		No	ClinGen Ensembl
CA2373904 rs777346610	1850	V>I		No	ClinGen ExAC TOPMed gnomAD
CA352620910 rs1431636762 COSM5729676	1851	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD
COSM3594890	1851	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA352620905 rs1390882216	1852	C>G		No	ClinGen gnomAD
rs372617983 CA2373903	1855	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1176439661 CA352620879	1856	H>N		No	ClinGen gnomAD
rs752331700 CA2373902	1858	L>F		No	ClinGen ExAC gnomAD
rs780881976 CA2373901	1858	L>H		No	ClinGen ExAC gnomAD
CA73932833 rs780881976	1858	L>R		No	ClinGen ExAC gnomAD
CA2373899 rs567324837	1859	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs574082966 CA2373900	1859	R>W		No	ClinGen ExAC TOPMed gnomAD
CA73932822 rs868159886	1860	E>K		No	ClinGen gnomAD
rs1202353962 CA352620847	1861	N>K		No	ClinGen gnomAD
CA352620843 rs1461205599	1862	Q>E		No	ClinGen gnomAD
TCGA novel	1863	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA352620835 rs1368389198	1863	D>H		No	ClinGen TOPMed gnomAD
CA352620836 rs1368389198	1863	D>N		No	ClinGen TOPMed gnomAD
TCGA novel	1863	D>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA2373898 rs766312179	1864	Y>H		No	ClinGen ExAC gnomAD
rs1293036919 CA352620818	1865	V>A		No	ClinGen TOPMed
rs1212753240 CA352620822	1865	V>I		No	ClinGen gnomAD
rs762726712 CA2373897	1868	E>Q		No	ClinGen ExAC gnomAD
rs764871884 CA2373895	1869	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2373871 rs771981032	1869	R>L		No	ClinGen ExAC gnomAD
CA352620770 rs1484234651	1872	M>V		No	ClinGen gnomAD
CA352620750 rs1267103058	1874	E>D		No	ClinGen TOPMed gnomAD
rs1221989405 CA352620749	1875	D>H		No	ClinGen gnomAD
rs1357182052 CA352620735	1877	D>N		No	ClinGen gnomAD
CA2373869 rs377668722	1878	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA352620716 rs1560047662	1879	G>A		No	ClinGen Ensembl
rs953712073 CA352620710	1880	G>A		No	ClinGen gnomAD
rs953712073 CA73932623	1880	G>V		No	ClinGen gnomAD
CA2373866 rs757414293	1882	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1008757672 CA73932607	1888	K>M		No	ClinGen TOPMed
VAR_036074	1891	D>V	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
CA2373862 rs757795468	1892	E>G		No	ClinGen ExAC gnomAD
CA2373861 rs377149806	1893	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA73932589 rs377149806	1893	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2373859 rs757110127	1895	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1020806573 CA73932562	1896	P>L		No	ClinGen Ensembl
CA352620510 rs1473802053	1896	P>S		No	ClinGen gnomAD
rs763817743 CA2373857	1898	P>T		No	ClinGen ExAC gnomAD
CA2373855 rs372738443	1899	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs767659107 CA352620470	1899	R>L		No	ClinGen ExAC TOPMed gnomAD
CA352620471 rs767659107	1899	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2373854 rs767659107	1899	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs372738443 CA2373856	1899	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2373853 rs531390276	1901	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1203539693 CA352620421	1902	S>N		No	ClinGen gnomAD
rs774962801 CA2373852	1903	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2373851 rs766993938	1903	L>R		No	ClinGen ExAC gnomAD
rs773727286 CA2373849	1904	R>P		No	ClinGen ExAC TOPMed gnomAD
rs773727286 CA2373850	1904	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2373847 rs746694079	1906	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1331392518 CA352620329	1908	R>C		No	ClinGen TOPMed gnomAD
rs774979670 CA352620323	1908	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2373846 rs774979670	1908	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1331392518 CA352620326	1908	R>S		No	ClinGen TOPMed gnomAD
rs1219980968 CA352620309	1909	E>D		No	ClinGen TOPMed
rs771648410 CA2373845	1909	E>Q		No	ClinGen ExAC gnomAD
rs745365566 CA2373844	1910	R>H		No	ClinGen ExAC TOPMed gnomAD
rs757197979 CA352620295	1911	A>P		No	ClinGen ExAC TOPMed gnomAD
rs757197979 CA2373842	1911	A>T		No	ClinGen ExAC TOPMed gnomAD
rs765975429 CA73932536	1911	A>V		No	ClinGen Ensembl
rs1429751743 CA352620273	1913	A>T		No	ClinGen TOPMed
CA352620266 rs1404381233	1913	A>V		No	ClinGen gnomAD
CA352620243 rs1304968892	1915	P>S		No	ClinGen gnomAD
rs749154789 CA2373841	1918	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs777578353 CA2373840	1920	T>S		No	ClinGen ExAC gnomAD
rs1248668812 CA352620139	1921	R>C		No	ClinGen TOPMed gnomAD
TCGA novel	1925	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA352620081 rs201838883	1925	M>L		No	ClinGen 1000Genomes ExAC gnomAD
rs201838883 CA2373839	1925	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs777666577 CA2373821	1927	G>V		No	ClinGen ExAC gnomAD
CA2373820 rs769618170	1930	Q>*		No	ClinGen ExAC gnomAD
CA2373819 rs79922382	1932	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM4929150	1934	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1575380313 CA352619822	1935	D>A		No	ClinGen Ensembl
rs995999382 CA73932357	1935	D>N		No	ClinGen TOPMed
CA352619776 rs1170692340	1938	Q>*		No	ClinGen gnomAD
CA352619769 rs1422868263	1938	Q>R		No	ClinGen gnomAD
CA2373815 rs780301431	1941	L>P		No	ClinGen ExAC gnomAD
CA2373814 rs758527514	1942	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1238993306 CA352619670	1943	T>I		No	ClinGen gnomAD
rs765831676 CA2373812	1945	R>C		No	ClinGen ExAC TOPMed gnomAD
rs762295147 CA2373811	1945	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2373809 COSM1221287 rs764450956	1947	V>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2373808 rs759141927	1948	P>L		No	ClinGen ExAC TOPMed gnomAD
COSM4118181	1948	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs149027538 CA2373806	1949	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs773200994 CA2373804	1950	A>T		No	ClinGen ExAC TOPMed gnomAD
CA352619528 rs1310125396	1951	V>A		No	ClinGen gnomAD
CA2373803 rs769608602	1956	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2373801 rs780856189	1958	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1156832730 CA352619337	1961	Q>E		No	ClinGen TOPMed gnomAD
TCGA novel	1963	Q>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1963	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1002101464 CA73932242	1965	H>R		No	ClinGen TOPMed
CA2373799 rs747280394	1968	S>P		No	ClinGen ExAC gnomAD
rs758614120 CA2373797	1969	D>N		No	ClinGen ExAC TOPMed gnomAD
rs750514002 CA2373796	1971	D>G		No	ClinGen ExAC gnomAD
CA352619132 rs1575380050	1972	T>P		No	ClinGen Ensembl
rs754327770 CA2373793	1974	H>R		No	ClinGen ExAC gnomAD
rs1402988061 CA352619060	1975	I>T		No	ClinGen TOPMed
rs764387834 CA2373792	1975	I>V		No	ClinGen ExAC gnomAD
rs761079529 CA352618983	1979	N>S		No	ClinGen ExAC gnomAD
rs761079529 CA2373791	1979	N>T		No	ClinGen ExAC gnomAD
CA352618862 rs1449535118	1982	P>S		No	ClinGen gnomAD
CA2373762 rs371822763 COSM1045770	1984	R>K	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA73932043 rs866444799	1985	F>L		No	ClinGen Ensembl
CA2373760 rs775430053	1989	I>M		No	ClinGen ExAC TOPMed gnomAD
CA73932040 rs913683217	1989	I>T		No	ClinGen Ensembl
TCGA novel	1992	N>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA2373759 rs771953305	1992	N>T		No	ClinGen ExAC gnomAD
rs1238350595 CA352618698	1993	P>L		No	ClinGen gnomAD
rs749383784 CA2373755	1994	Q>L		No	ClinGen ExAC gnomAD
CA2373756 rs749383784	1994	Q>P		No	ClinGen ExAC gnomAD
rs368327333 CA73931966	1997	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA352618638 rs1344367872	1998	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA352618618 rs1394169885 COSM4715948	1999	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1378190870 CA352618584	2001	T>R		No	ClinGen gnomAD
CA2373752 rs748591557	2002	S>T		No	ClinGen ExAC TOPMed gnomAD
COSM730672	2003	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA352618557 rs1211950462	2003	D>V		No	ClinGen TOPMed
rs1368384219 CA352618519	2005	M>R		No	ClinGen gnomAD
rs957878971 CA73931950	2005	M>V		No	ClinGen TOPMed
rs755289308 CA2373750 COSM1423725	2007	A>V	Variant assessed as Somatic; MODERATE impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs750095809 CA2373749	2008	V>A		No	ClinGen ExAC gnomAD
CA352618413 rs1249964338	2013	A>T		No	ClinGen TOPMed
rs753397739 CA2373745	2016	F>L		No	ClinGen ExAC gnomAD
CA352618346 rs1415148105	2017	M>T		No	ClinGen gnomAD
CA352618353 rs1575379581	2017	M>V		No	ClinGen Ensembl
CA2373743 rs760724442	2019	A>T		No	ClinGen ExAC TOPMed gnomAD
rs748810229 CA73931928	2019	A>V		No	ClinGen Ensembl
CA352618296 rs1251411732	2020	C>F		No	ClinGen gnomAD
CA2373742 rs374356441	2021	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA352618289 rs1575379543	2021	T>P		No	ClinGen Ensembl
CA2373740 rs759374793	2024	D>N		No	ClinGen ExAC gnomAD
CA2373738 rs771171988	2025	H>Q		No	ClinGen ExAC gnomAD
CA352618233 rs1313330688	2025	H>R		No	ClinGen gnomAD
CA352618212 rs1348365091	2026	K>N		No	ClinGen gnomAD
TCGA novel	2028	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs867179619 CA73931916	2029	R>Q		No	ClinGen TOPMed gnomAD
CA352618182 rs376360565	2029	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1463538621 CA352616730	2030	D>E		No	ClinGen gnomAD
rs777535314 COSM1221291 CA2373704	2032	P>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs752241808 CA2373702	2036	L>I		No	ClinGen ExAC gnomAD
CA352616633 rs1464671160	2038	Y>C		No	ClinGen TOPMed
CA352616610 rs1232014295	2040	R>Q		No	ClinGen gnomAD
CA2373701 rs370249939 COSM254896	2040	R>W	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA352616575 rs1304908922	2043	P>A		No	ClinGen gnomAD
CA2373697 rs762638688	2044	R>Q		No	ClinGen ExAC gnomAD
CA2373698 rs766221983	2044	R>W		No	ClinGen ExAC TOPMed
CA352616522 rs1447370660	2047	R>G		No	ClinGen TOPMed
rs200211751 CA2373696	2047	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	2047	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1400470908 CA352616513	2048	M>L		No	ClinGen gnomAD
CA352616251 rs1575375526	2052	Y>D		No	ClinGen Ensembl
CA73928973 rs998353780	2053	Y>N		No	ClinGen TOPMed gnomAD
rs757499559 CA2373677	2057	R>G		No	ClinGen ExAC gnomAD
CA2373676 rs34781337	2059	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1354930505 CA352616126	2061	P>S		No	ClinGen gnomAD
rs767196654 CA73928946	2062	A>P		No	ClinGen Ensembl
rs760640753 CA2373674	2064	D>N		No	ClinGen ExAC gnomAD
CA2373673 rs776130456	2064	D>V		No	ClinGen ExAC gnomAD
CA352616081 rs760640753	2064	D>Y		No	ClinGen ExAC gnomAD
CA352616054 rs1409377624	2066	E>K		No	ClinGen gnomAD
CA2373672 rs767898942	2068	N>T		No	ClinGen ExAC gnomAD
CA352615996 rs1309211846	2069	S>F		No	ClinGen TOPMed
rs546908494 CA2373670	2070	V>F		No	ClinGen 1000Genomes ExAC
rs546908494 CA2373671	2070	V>L		No	ClinGen 1000Genomes ExAC
rs964501784 CA73928923	2071	L>P		No	ClinGen gnomAD
rs747827750 CA2373668	2072	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2373667 rs146727163	2073	E>Q		No	ClinGen ESP ExAC gnomAD
TCGA novel	2076	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1179590812 CA352615907	2076	W>C		No	ClinGen TOPMed gnomAD
CA352615919 rs1419702785	2076	W>G		No	ClinGen gnomAD
rs770844943 CA2373642	2077	N>S		No	ClinGen ExAC TOPMed gnomAD
rs770844943 CA352615801	2077	N>T		No	ClinGen ExAC TOPMed gnomAD
CA73928372 rs564318326	2078	Y>F		No	ClinGen Ensembl
rs1160853082 CA352615764	2080	G>E		No	ClinGen gnomAD
rs749067956 CA2373640	2080	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2373639 rs375094562	2081	D>E		No	ClinGen ESP ExAC gnomAD
rs878874761 CA73928368	2081	D>H		No	ClinGen gnomAD
rs1215288190 CA352615745	2082	L>V		No	ClinGen TOPMed
rs752925540 CA2373637	2083	G>E		No	ClinGen ExAC gnomAD
rs915855083 CA73928356 CA352615734	2083	G>R		No	ClinGen TOPMed
rs1246770280 CA352615727	2084	A>V		No	ClinGen TOPMed gnomAD
rs142543539 CA2373635	2085	R>*		No	ClinGen 1000Genomes ExAC gnomAD
CA2373634 rs752153932	2085	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs183567631 CA2373633	2086	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs887840684 CA73928325	2087	A>V		No	ClinGen TOPMed gnomAD
rs1163672315 CA352615680	2092	Y>C		No	ClinGen TOPMed
CA352615649 rs1340084816	2096	N>S		No	ClinGen gnomAD
rs760264904 CA2373629	2097	K>E		No	ClinGen ExAC gnomAD
CA2373628 rs144663234	2097	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA352615631 rs1362405086	2099	Y>H		No	ClinGen gnomAD
rs1027017996 CA352615617	2100	D>E		No	ClinGen TOPMed
rs767142910 CA352615594	2102	I>F		No	ClinGen ExAC TOPMed gnomAD
CA2373606 rs759130949	2102	I>M		No	ClinGen ExAC gnomAD
rs767142910 CA2373607	2102	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2373605 rs773855607	2104	T>I		No	ClinGen ExAC gnomAD
CA352615562 rs1575371006	2104	T>P		No	ClinGen Ensembl
rs1418951810 CA352615506	2108	E>K		No	ClinGen gnomAD
rs1048783146 CA73927520	2110	G>D		No	ClinGen TOPMed
CA73927515 rs772213782	2111	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1575370937 CA352615450	2112	A>S		No	ClinGen Ensembl
rs1434161543 CA352615431	2113	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2373601 rs769520019	2113	Q>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2115	M>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA352615386 rs747973804	2116	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1575370890 CA352615377	2117	L>R		No	ClinGen Ensembl
CA2373599 rs368125062	2118	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2373598 rs769017703	2119	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA2373596 rs748256104	2120	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2373597 rs747184256	2120	R>W		No	ClinGen ExAC TOPMed gnomAD
CA352615327 rs1180641263	2122	Q>P		No	ClinGen Ensembl
CA352615292 rs1234903769	2124	I>M		No	ClinGen gnomAD
rs758479462 CA2373595	2124	I>T		No	ClinGen ExAC gnomAD
CA73927469 rs111479758	2127	A>T		No	ClinGen Ensembl
CA352615262 rs1440638888	2129	E>A		No	ClinGen TOPMed
TCGA novel	2132	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1287304414 CA352615208	2133	T>I		No	ClinGen gnomAD
CA2373592 rs757619709	2135	L>V		No	ClinGen ExAC gnomAD

No associated diseases with O43157

No regional properties for O43157

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for O43157

Functions

		Description
EC Number
Subcellular Localization	[Isoform 1]: Cell membrane ; Single-pass type I membrane protein ;
PANTHER Family	PTHR22625	PLEXIN
PANTHER Subfamily	PTHR22625:SF36	PLEXIN-B1
PANTHER Protein Class	transmembrane signal receptor
PANTHER Pathway Category	Axon guidance mediated by semaphorins plexinB1

3 GO annotations of cellular component

Name	Definition
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
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.

5 GO annotations of molecular function

Name	Definition
GTPase activating protein binding	Binding to a GTPase activating protein.
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
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.
semaphorin receptor binding	Binding to a semaphorin receptor.
transmembrane signaling receptor activity	Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction.

17 GO annotations of biological process

Name	Definition
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues.
inhibitory synapse assembly	The aggregation, arrangement and bonding together of a set of components to form an inhibitory synapse.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
negative regulation of cell adhesion	Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion.
negative regulation of osteoblast proliferation	Any process that stops, prevents or reduces the rate or extent of osteoblast proliferation.
neuron projection morphogenesis	The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites.
ossification involved in bone maturation	The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in the progression of the skeleton from its formation to its mature state.
positive regulation of axonogenesis	Any process that activates or increases the frequency, rate or extent of axonogenesis.
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
positive regulation of phosphatidylinositol 3-kinase signaling	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
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.
regulation of cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures.
regulation of GTPase activity	Any process that modulates the rate of GTP hydrolysis by a GTPase.
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.
semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis	Any semaphorin-plexin signaling pathway that contributes to bone trabecula morphogenesis.

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
O75051	PLXNA2	Plexin-A2	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
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
P70207	Plxna2	Plexin-A2	Mus musculus (Mouse)	SS
Q62190	Mst1r	Macrophage-stimulating protein receptor	Mus musculus (Mouse)	SS
B2RXS4	Plxnb2	Plexin-B2	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
Q8CJH3	Plxnb1	Plexin-B1	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
MPALGPALLQ	ALWAGWVLTL	QPLPPTAFTP	NGTYLQHLAR	DPTSGTLYLG	ATNFLFQLSP
70	80	90	100	110	120
GLQLEATVST	GPVLDSRDCL	PPVMPDECPQ	AQPTNNPNQL	LLVSPGALVV	CGSVHQGVCE
130	140	150	160	170	180
QRRLGQLEQL	LLRPERPGDT	QYVAANDPAV	STVGLVAQGL	AGEPLLFVGR	GYTSRGVGGG
190	200	210	220	230	240
IPPITTRALW	PPDPQAAFSY	EETAKLAVGR	LSEYSHHFVS	AFARGASAYF	LFLRRDLQAQ
250	260	270	280	290	300
SRAFRAYVSR	VCLRDQHYYS	YVELPLACEG	GRYGLIQAAA	VATSREVAHG	EVLFAAFSSA
310	320	330	340	350	360
APPTVGRPPS	AAAGASGASA	LCAFPLDEVD	RLANRTRDAC	YTREGRAEDG	TEVAYIEYDV
370	380	390	400	410	420
NSDCAQLPVD	TLDAYPCGSD	HTPSPMASRV	PLEATPILEW	PGIQLTAVAV	TMEDGHTIAF
430	440	450	460	470	480
LGDSQGQLHR	VYLGPGSDGH	PYSTQSIQQG	SAVSRDLTFD	GTFEHLYVMT	QSTLLKVPVA
490	500	510	520	530	540
SCAQHLDCAS	CLAHRDPYCG	WCVLLGRCSR	RSECSRGQGP	EQWLWSFQPE	LGCLQVAAMS
550	560	570	580	590	600
PANISREETR	EVFLSVPDLP	PLWPGESYSC	HFGEHQSPAL	LTGSGVMCPS	PDPSEAPVLP
610	620	630	640	650	660
RGADYVSVSV	ELRFGAVVIA	KTSLSFYDCV	AVTELRPSAQ	CQACVSSRWG	CNWCVWQHLC
670	680	690	700	710	720
THKASCDAGP	MVASHQSPLV	SPDPPARGGP	SPSPPTAPKA	LATPAPDTLP	VEPGAPSTAT
730	740	750	760	770	780
ASDISPGASP	SLLSPWGPWA	GSGSISSPGS	TGSPLHEEPS	PPSPQNGPGT	AVPAPTDFRP
790	800	810	820	830	840
SATPEDLLAS	PLSPSEVAAV	PPADPGPEAL	HPTVPLDLPP	ATVPATTFPG	AMGSVKPALD
850	860	870	880	890	900
WLTREGGELP	EADEWTGGDA	PAFSTSTLLS	GDGDSAELEG	PPAPLILPSS	LDYQYDTPGL
910	920	930	940	950	960
WELEEATLGA	SSCPCVESVQ	GSTLMPVHVE	REIRLLGRNL	HLFQDGPGDN	ECVMELEGLE
970	980	990	1000	1010	1020
VVVEARVECE	PPPDTQCHVT	CQQHQLSYEA	LQPELRVGLF	LRRAGRLRVD	SAEGLHVVLY
1030	1040	1050	1060	1070	1080
DCSVGHGDCS	RCQTAMPQYG	CVWCEGERPR	CVTREACGEA	EAVATQCPAP	LIHSVEPLTG
1090	1100	1110	1120	1130	1140
PVDGGTRVTI	RGSNLGQHVQ	DVLGMVTVAG	VPCAVDAQEY	EVSSSLVCIT	GASGEEVAGA
1150	1160	1170	1180	1190	1200
TAVEVPGRGR	GVSEHDFAYQ	DPKVHSIFPA	RGPRAGGTRL	TLNGSKLLTG	RLEDIRVVVG
1210	1220	1230	1240	1250	1260
DQPCHLLPEQ	QSEQLRCETS	PRPTPATLPV	AVWFGATERR	LQRGQFKYTL	DPNITSAGPT
1270	1280	1290	1300	1310	1320
KSFLSGGREI	CVRGQNLDVV	QTPRIRVTVV	SRMLQPSQGL	GRRRRVVPET	ACSLGPSCSS
1330	1340	1350	1360	1370	1380
QQFEEPCHVN	SSQLITCRTP	ALPGLPEDPW	VRVEFILDNL	VFDFATLNPT	PFSYEADPTL
1390	1400	1410	1420	1430	1440
QPLNPEDPTM	PFRHKPGSVF	SVEGENLDLA	MSKEEVVAMI	GDGPCVVKTL	TRHHLYCEPP
1450	1460	1470	1480	1490	1500
VEQPLPRHHA	LREAPDSLPE	FTVQMGNLRF	SLGHVQYDGE	SPGAFPVAAQ	VGLGVGTSLL
1510	1520	1530	1540	1550	1560
ALGVIIIVLM	YRRKSKQALR	DYKKVQIQLE	NLESSVRDRC	KKEFTDLMTE	MTDLTSDLLG
1570	1580	1590	1600	1610	1620
SGIPFLDYKV	YAERIFFPGH	RESPLHRDLG	VPESRRPTVE	QGLGQLSNLL	NSKLFLTKFI
1630	1640	1650	1660	1670	1680
HTLESQRTFS	ARDRAYVASL	LTVALHGKLE	YFTDILRTLL	SDLVAQYVAK	NPKLMLRRTE
1690	1700	1710	1720	1730	1740
TVVEKLLTNW	MSICLYTFVR	DSVGEPLYML	FRGIKHQVDK	GPVDSVTGKA	KYTLNDNRLL
1750	1760	1770	1780	1790	1800
REDVEYRPLT	LNALLAVGPG	AGEAQGVPVK	VLDCDTISQA	KEKMLDQLYK	GVPLTQRPDP
1810	1820	1830	1840	1850	1860
RTLDVEWRSG	VAGHLILSDE	DVTSEVQGLW	RRLNTLQHYK	VPDGATVALV	PCLTKHVLRE
1870	1880	1890	1900	1910	1920
NQDYVPGERT	PMLEDVDEGG	IRPWHLVKPS	DEPEPPRPRR	GSLRGGERER	AKAIPEIYLT
1930	1940	1950	1960	1970	1980
RLLSMKGTLQ	KFVDDLFQVI	LSTSRPVPLA	VKYFFDLLDE	QAQQHGISDQ	DTIHIWKTNS
1990	2000	2010	2020	2030	2040
LPLRFWINII	KNPQFVFDVQ	TSDNMDAVLL	VIAQTFMDAC	TLADHKLGRD	SPINKLLYAR
2050	2060	2070	2080	2090	2100
DIPRYKRMVE	RYYADIRQTV	PASDQEMNSV	LAELSWNYSG	DLGARVALHE	LYKYINKYYD
2110	2120	2130
QIITALEEDG	TAQKMQLGYR	LQQIAAAVEN	KVTDL