AiPD: Autoinhibited Protein Database

P54296

Gene name	MYOM2
Protein name	Myomesin-2
Names	165 kDa connectin-associated protein, 165 kDa titin-associated protein, M-protein, Myomesin family member 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9172
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

4-103 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

4-103 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for P54296

Entry ID	Method	Resolution	Chain	Position	Source
AF-P54296-F1	Predicted				AlphaFoldDB

2042 variants for P54296

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs374080538 CA170439367	2	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA369986606 rs1418382437	4	V>L		No	TOPMed gnomAD ClinGen
CA369986605 rs1418382437	4	V>M		No	ClinGen TOPMed gnomAD
rs765957628 CA170439373	8	F>S		No	ClinGen ExAC gnomAD
rs776396959 CA170439375	9	Y>C		No	ClinGen ExAC gnomAD
CA170439377 rs146600166	11	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369986656 rs1333614956	11	K>N		No	ClinGen TOPMed gnomAD
CA369986660 rs1042479114	12	R>K		No	ClinGen TOPMed gnomAD
CA170439382 rs369564350	12	R>S		No	ClinGen 1000Genomes ExAC gnomAD
CA170439379 rs1042479114	12	R>T		No	TOPMed gnomAD ClinGen
CA170439384 rs374841806	13	H>L		No	ClinGen ESP TOPMed gnomAD
CA369986667 rs374841806	13	H>R		No	ClinGen ESP TOPMed gnomAD
CA170439386 rs1026792475	14	R>K		No	TOPMed ClinGen
CA170439388 rs757604640	14	R>S		No	ExAC TOPMed gnomAD ClinGen
CA369986678 rs1264225784	15	H>P		No	ClinGen gnomAD
CA170439390 rs768079296	16	F>L		No	ExAC gnomAD ClinGen
CA170439394 rs1049710699	17	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs146720027 CA170439396	18	Q>*		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1257928232 CA369986701	18	Q>H		No	ClinGen TOPMed gnomAD
rs779946472 CA170439399	18	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA170439401 rs749553170	19	S>P		No	ExAC TOPMed gnomAD ClinGen
rs1479441759 CA369986714	20	Y>*		No	ClinGen TOPMed
CA170439406 rs367948315	21	R>C		No	ESP ExAC TOPMed gnomAD ClinGen
CA170439404 rs367948315	21	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs771989991 COSM167543 CA170439408	21	R>H	large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs771989991 CA369986718	21	R>L		No	ClinGen ExAC TOPMed gnomAD
CA369986721 rs1169127170	22	N>Y		No	ClinGen gnomAD
CA170439412 rs371210667	23	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA369986733 rs1356446434	24	Q>K		No	ClinGen TOPMed gnomAD
rs746922687 CA170439415	25	T>I		No	ClinGen ExAC gnomAD
rs746922687 CA170439414	25	T>R		No	ExAC gnomAD ClinGen
rs149935963 CA369986745	26	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
COSM144432 CA170439419 rs369374390	26	R>Q	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA170439417 rs149935963	26	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369986754 rs1253130832	27	Y>*		No	ClinGen gnomAD
CA170439424 COSM1686041 rs148337899	31	E>K	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA170439425 rs148337899	31	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486498350 CA369986787	32	Y>*		No	gnomAD ClinGen
rs35578989 CA170439429	33	A>E		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170439428 rs762201621	33	A>T		No	ExAC TOPMed gnomAD ClinGen
CA170439430 rs35578989	33	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369986792 rs1195283048	34	S>P		No	gnomAD ClinGen
rs145748372 CA170439438	35	K>E		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1563411250 CA369986803	35	K>N		No	ClinGen Ensembl
rs755076205 CA170439441	36	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1360158578	36	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA170439910 rs779496715	37	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
COSM232840 CA369986823 rs1376046637	37	R>Q	skin [Cosmic]	No	TOPMed ClinGen cosmic curated
CA170439911 rs376892891	39	S>P		No	ESP TOPMed gnomAD ClinGen
rs372481778 CA170439915	41	Q>R		No	ClinGen ESP TOPMed gnomAD
CA170439918 rs768242942	42	A>E		No	ClinGen ExAC gnomAD
rs1293092239 CA369986866	44	S>F		No	gnomAD ClinGen
CA170439925 rs771300738	45	Q>*		No	ExAC TOPMed gnomAD ClinGen
rs777054185 CA170439929	47	S>C		No	ExAC TOPMed gnomAD ClinGen
rs777054185 CA369986885	47	S>F		No	ClinGen ExAC TOPMed gnomAD
rs777054185 CA170439927	47	S>Y		No	ExAC TOPMed gnomAD ClinGen
rs1233299969 CA369986886	48	L>M		No	ClinGen gnomAD
rs765264990 CA170439931	49	S>N		No	ExAC TOPMed gnomAD ClinGen
CA170439933 rs765264990	49	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1181005678 CA369986901	50	Q>E		No	ClinGen TOPMed
rs142861306 CA170439938	51	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170439937 rs142861306	51	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1233782213 CA369986907	51	R>W		No	ClinGen TOPMed gnomAD
rs751798819 CA369986913	52	S>*		No	ExAC TOPMed gnomAD ClinGen
rs751798819 CA170439940	52	S>L		No	ExAC TOPMed gnomAD ClinGen
rs1275001411 CA369986911	52	S>P		No	ClinGen gnomAD
rs1275001411 CA369986910	52	S>T		No	ClinGen gnomAD
rs1251457196 CA369986919	53	S>C		No	ClinGen gnomAD
CA369986926 rs1481405700	54	S>L		No	ClinGen gnomAD
rs1563412402 CA369986935	56	R>G		No	ClinGen Ensembl
CA170439944 rs780987387	56	R>K		No	ExAC TOPMed gnomAD ClinGen
CA369986937 rs780987387	56	R>T		No	ExAC TOPMed gnomAD ClinGen
CA170439945 rs750355453	57	A>T		No	ClinGen ExAC TOPMed gnomAD
CA170439949 rs779550099	58	S>C		No	ClinGen ExAC gnomAD
CA170439947 rs756009362	58	S>P		No	ClinGen ExAC gnomAD
rs768153204 CA170439953	59	S>N		No	ExAC gnomAD ClinGen
CA170439951 rs748857268	59	S>R		No	ClinGen ExAC
CA170439955 rs773182623	59	S>R		No	ClinGen ExAC TOPMed gnomAD
rs534542853 CA369986966	61	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534542853 CA170439957	61	T>M		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1306435832 CA369986973	62	S>F		No	ClinGen gnomAD
TCGA novel	62	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1415186825 CA369986995	66	T>S		No	gnomAD ClinGen
rs1227732869 CA369987003	67	I>M		No	gnomAD ClinGen
rs1376883735 CA369987000	67	I>N		No	ClinGen gnomAD
TCGA novel CA170439966 rs138096233	69	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA 1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA369987013 rs1308777038	69	R>W		No	gnomAD ClinGen
rs763164767 CA170439970	71	C>F		No	ExAC TOPMed gnomAD ClinGen
CA369987026 rs1482893449	71	C>R		No	gnomAD ClinGen
rs763164767 CA170439969	71	C>S		No	ExAC TOPMed gnomAD ClinGen
rs1239637264 CA369987029	71	C>W		No	ClinGen TOPMed gnomAD
CA369987033 rs774732664	72	A>E		No	ExAC TOPMed gnomAD ClinGen
rs774732664 CA170439973	72	A>G		No	ExAC TOPMed gnomAD ClinGen
rs774732664 CA170439974	72	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA170439978 rs149520756	74	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs143949365 COSM1097873 CA170439980	74	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs766373743 CA170439982	75	V>L		No	ExAC TOPMed gnomAD ClinGen
rs766373743 CA369987045	75	V>M		No	ClinGen ExAC TOPMed gnomAD
CA170439984 rs894337328	76	S>N		No	ClinGen Ensembl
CA170439986 rs753747571	77	T>A		No	ClinGen ExAC TOPMed gnomAD
CA170439988 rs146262737	77	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170439994 rs758004464	79	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA170439997 rs142122678	80	D>E		No	1000Genomes ESP ExAC TOPMed ClinGen
VAR_033613 CA170440000 rs35985218	81	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
CA170440002 rs35985218	81	E>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1038498675 CA170440006	83	Q>*		No	TOPMed gnomAD ClinGen
rs1038498675 CA369987098	83	Q>E		No	ClinGen TOPMed gnomAD
rs1038498675 CA369987097	83	Q>K		No	ClinGen TOPMed gnomAD
CA369987099 rs1367280220	83	Q>R		No	ClinGen TOPMed
rs1236104593 CA369987119	85	N>K		No	ClinGen gnomAD
rs35022521 CA170440010	87	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs35022521 CA170440011	87	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767835291 CA369987132	87	S>R		No	ClinGen ExAC TOPMed gnomAD
CA170440014 rs374547578	88	R>K		No	ESP ExAC TOPMed gnomAD ClinGen
CA170441848 rs144491028	88	R>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170441852 rs776824095	89	Y>F		No	ExAC TOPMed gnomAD ClinGen
CA170441850 rs776824095	89	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs372894513 CA369987156 COSM1673733	90	Q>*	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA170441853 rs372894513	90	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs535600512 CA170441855	91	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	92	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753629984 CA170441856	92	L>V		No	Ensembl ClinGen
CA369987180 rs1405685665	94	A>D		No	TOPMed ClinGen
CA369987183 rs762755462	95	A>P		No	ExAC TOPMed gnomAD ClinGen
CA170441863 rs762755462	95	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA369987187 rs1409924106	95	A>V		No	ClinGen TOPMed
rs757105658 CA170441867	96	Y>C		No	ExAC TOPMed gnomAD ClinGen
CA170441865 rs763664241	96	Y>D		No	ClinGen ExAC gnomAD
CA369987197 rs376188848	97	G>A		No	ESP ExAC gnomAD ClinGen
CA170441869 rs376188848	97	G>D		No	ESP ExAC gnomAD ClinGen
rs767343743 CA170441870	98	E>K		No	ExAC gnomAD ClinGen
rs1309509805 CA369987206	99	A>T		No	ClinGen gnomAD
rs1170026838 CA369987210	99	A>V		No	TOPMed ClinGen
CA170441876 rs750072263	101	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
COSM1258609 rs765470534 CA170441878	101	R>Q	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA369987223 rs1199683339	102	Q>E		No	TOPMed ClinGen
rs373046504 CA170441881	102	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1035230559 CA170441884	103	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA170441885 rs200858192	103	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1035230559 CA170441882	103	R>S		No	ClinGen TOPMed gnomAD
rs1206076793 CA369987235	104	F>L		No	ClinGen gnomAD
rs368543478 CA170441888	106	S>N		No	ESP ExAC TOPMed gnomAD ClinGen
CA369987252 rs145819260 CA170441890	106	S>R		No	ExAC TOPMed gnomAD ClinGen
rs552708209 CA170441893	107	E>K		No	TOPMed gnomAD ClinGen
rs765425718 CA170441898	108	L>V		No	TOPMed ClinGen
rs1185385685 CA369987264	109	A>T		No	gnomAD ClinGen
rs1272038420 CA369987269	109	A>V		No	ClinGen Ensembl
CA369987272 rs1367341669	110	H>Y		No	gnomAD ClinGen
CA170441903 rs775075842	112	E>K		No	ClinGen ExAC gnomAD
rs1019895358 CA170441905	113	E>*		No	TOPMed ClinGen
rs1019895358 CA369987292	113	E>K		No	TOPMed ClinGen
rs986645720 CA369987303	114	D>G		No	ClinGen TOPMed gnomAD
rs1336879197 CA369987299	114	D>N		No	TOPMed ClinGen
CA170441909 rs986645720	114	D>V		No	ClinGen TOPMed gnomAD
CA369987310 rs1307781378	115	V>G		No	gnomAD ClinGen
CA170441910 rs557353755	115	V>I		No	1000Genomes ExAC gnomAD ClinGen
rs1398263195 CA369987318	116	H>Q		No	ClinGen TOPMed gnomAD
rs761446787 CA170441916	117	L>R		No	ExAC TOPMed gnomAD ClinGen
rs868050967 CA170441918	118	A>T		No	ClinGen Ensembl
rs570741458 CA170441925	119	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA170441924 rs570741458	119	R>G		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs752951216 CA170441927	119	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs758780411 CA170441929	121	Q>E		No	ClinGen ExAC gnomAD
rs1033302890 CA170441931	122	A>D		No	ClinGen Ensembl
CA170441934 rs143720590	123	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs147661043 COSM268503 CA170441936	123	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs147661043 CA170441938	123	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs746091086 CA170441945	124	D>E		No	ExAC gnomAD ClinGen
rs972168653 CA170441943	124	D>G		No	ClinGen gnomAD
rs34897824 CA170441941	124	D>N		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs780308801 CA170441949	125	K>N		No	ClinGen ExAC TOPMed gnomAD
rs756232959 CA170441947	125	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1223360104 CA369987366	126	L>P		No	TOPMed ClinGen
CA369987374 CA170441953 rs749102246	127	D>E		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	127	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA170441955 rs774481321	128	K>R		No	ClinGen ExAC gnomAD
CA170441959 rs1049068422	129	Y>H		No	ClinGen Ensembl
rs771740621 CA170441961	129	Y>S		No	ClinGen ExAC gnomAD
CA170441969 rs138240288	130	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760392633 CA170441967	130	A>P		No	ExAC TOPMed gnomAD ClinGen
CA170441966 rs760392633	130	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1195484066 CA369987398	132	Q>*		No	gnomAD ClinGen
rs1434599623 CA369987402	132	Q>R		No	gnomAD ClinGen
rs763269158 CA170441971	133	Q>H		No	ClinGen ExAC gnomAD
CA369987421 rs1454862432	134	M>I		No	TOPMed ClinGen
CA369987417 rs1313681428	134	M>T		No	ClinGen gnomAD
CA170442074 rs745516255	135	M>L		No	ExAC gnomAD ClinGen
rs775119342 CA170442077	135	M>R		No	ExAC gnomAD ClinGen
rs745516255 CA170442073	135	M>V		No	ExAC gnomAD ClinGen
CA170442080 rs772401209	138	K>E		No	ExAC gnomAD ClinGen
CA170442084 rs761206027	139	L>M		No	ExAC TOPMed gnomAD ClinGen
CA170442089 rs999986401	141	W>L		No	ClinGen Ensembl
rs1197510122 CA369987484	142	E>*		No	ClinGen TOPMed
CA170442091 rs759675384	142	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1251176595 CA369987510	146	F>L		No	ClinGen TOPMed
rs752940588 CA170442097	146	F>S		No	ExAC gnomAD ClinGen
rs758320327 CA170442099	148	E>K		No	ExAC TOPMed gnomAD ClinGen
rs751452355 CA170442102	149	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA170442100 rs149265899	149	R>W		No	ESP ExAC TOPMed gnomAD ClinGen
CA369987541 rs1448603698	150	I>M		No	ClinGen gnomAD
rs757157953 CA170442104	151	S>G		No	ExAC TOPMed gnomAD ClinGen
rs1323757786 CA369987546	151	S>I		No	ClinGen TOPMed
CA170442109 rs1007648801	152	R>K		No	ClinGen Ensembl
rs780974709 CA170442111	153	A>D		No	ExAC gnomAD ClinGen
CA170442112 rs780974709	153	A>G		No	ClinGen ExAC gnomAD
CA369987557 rs1376257424	153	A>S		No	gnomAD ClinGen
rs780974709 CA170442114	153	A>V		No	ExAC gnomAD ClinGen
CA369987558 rs1487971522	154	P>S		No	ClinGen gnomAD
rs1343823746 CA369987570	155	E>D		No	gnomAD ClinGen
CA369987589 rs1204799127	158	V>G		No	Ensembl ClinGen
rs199897852 CA170442122	159	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
rs77888349 CA170442120 COSM1455965	159	R>W	large_intestine [Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated
rs993324475 CA170442126	161	R>*		No	ClinGen Ensembl
CA369987599 rs747484319	161	R>P		No	ExAC TOPMed gnomAD ClinGen
CA170442128 rs747484319	161	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA170442130 rs982436619	162	S>C		No	ClinGen Ensembl
rs1451533328 CA369987608	163	H>Y		No	ClinGen TOPMed gnomAD
rs1026192275 CA170442132	164	T>A		No	ClinGen gnomAD
CA170442134 rs1007833332	164	T>S		No	ClinGen TOPMed
rs200247570 CA170442138 COSM486288	165	V>I	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs1430173927 CA369987626	166	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs759735194 CA170442144	167	E>D		No	ClinGen ExAC TOPMed gnomAD
rs765388620 CA170442146	168	R>W		No	ClinGen ExAC gnomAD
rs377396154 CA170442148	169	M>K		No	ClinGen Ensembl
rs775880163 CA170442150	171	V>A		No	ExAC gnomAD ClinGen
rs775880163 CA170442151	171	V>G		No	ExAC gnomAD ClinGen
CA369987659 rs1451904071	171	V>M		No	ClinGen gnomAD
CA369987669 rs1366771859	172	K>N		No	gnomAD ClinGen
rs763197697 CA170442156	174	C>R		No	ClinGen ExAC TOPMed gnomAD
rs763807935 CA170442158	174	C>Y		No	ExAC TOPMed gnomAD ClinGen
CA170442160 rs994058584	175	F>L		No	TOPMed gnomAD ClinGen
rs751424968 CA170442162	176	T>I		No	ClinGen ExAC gnomAD
CA170442170 rs945665543	177	V>A		No	ClinGen Ensembl
CA170442168 rs139084687	177	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369987701 rs1203639214	178	Q>*		No	TOPMed gnomAD ClinGen
CA369987700 rs1203639214	178	Q>E		No	ClinGen TOPMed gnomAD
CA369987699 rs1203639214	178	Q>K		No	TOPMed gnomAD ClinGen
CA369987729 rs1466331798	182	T>A		No	ClinGen gnomAD
rs17064618 CA170442175 VAR_033614	182	T>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1478510512 CA369987733	183	P>A		No	gnomAD ClinGen
rs1310400295 CA369987737	183	P>L		No	gnomAD ClinGen
rs1054180703 CA170442185	184	V>A		No	Ensembl ClinGen
CA170442184 rs149971827	184	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170442188 rs557537837	185	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369987750 rs1453012003	186	Q>P		No	TOPMed ClinGen
rs1482020274 CA369987781	188	Y>F		No	ClinGen gnomAD
CA170442709 rs752428662	189	K>*		No	ClinGen ExAC gnomAD
CA369987795 rs1473495603	190	D>G		No	gnomAD ClinGen
CA170442711 rs529504369	192	S>C		No	ClinGen Ensembl
rs1264596343 CA369987809	192	S>N		No	ClinGen TOPMed
TCGA novel	194	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750882030 CA170442719	195	C>F		No	ExAC TOPMed gnomAD ClinGen
rs142466938 CA170442721	196	Q>*		No	ESP ExAC TOPMed gnomAD ClinGen
rs1216872377 CA369987833	196	Q>P		No	ClinGen TOPMed
rs10105064 CA170442722	197	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748417169 CA170442729	200	P>L		No	ExAC TOPMed gnomAD ClinGen
rs748417169 CA369987860	200	P>Q		No	ExAC TOPMed gnomAD ClinGen
rs778790138 CA170442727	200	P>T		No	ExAC gnomAD ClinGen
CA170442733 rs1056207232	201	G>R		No	ClinGen TOPMed
CA170442736 rs773418146	202	K>E		No	ExAC TOPMed gnomAD ClinGen
CA369987871 rs1276449302	202	K>N		No	ClinGen gnomAD
rs1038595179 CA170442740	203	Y>*		No	TOPMed gnomAD ClinGen
rs746847860 CA170442738	203	Y>F		No	ExAC gnomAD ClinGen
rs1337238071 CA369987873	203	Y>N		No	gnomAD ClinGen
CA170442742 rs770694689	205	I>T		No	ClinGen ExAC TOPMed gnomAD
CA170442744 rs201615771	207	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759355485 CA170442745 RCV001007838	207	S>R		No	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA170442747 rs368379782	208	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170442749 rs554380289	209	Y>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1403533352 CA369987926	211	V>I		No	gnomAD ClinGen
CA369987934 rs1334761636	212	H>Y		No	ClinGen TOPMed gnomAD
rs751231838 CA369987944	213	T>I		No	ExAC TOPMed gnomAD ClinGen
rs751231838 CA170442755	213	T>K		No	ClinGen ExAC TOPMed gnomAD
rs756567474 CA369987945	214	L>M		No	ExAC TOPMed ClinGen
CA170442757 rs756567474	214	L>V		No	ClinGen ExAC TOPMed
CA170442762 rs569573488	217	N>D		No	ExAC TOPMed gnomAD ClinGen
CA369987973 rs1324410804	218	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA170446331 rs757325455	219	A>S		No	ClinGen ExAC
rs34823600 CA170446333	219	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1585846625 CA369988007	221	F>L		No	ClinGen Ensembl
rs779831284 CA170446338	223	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA170446344 rs867478502	225	A>T		No	TOPMed ClinGen
CA170446346 rs376408103	225	A>V		No	ExAC TOPMed gnomAD ClinGen
rs1405831682 CA369988036	226	T>S		No	ClinGen gnomAD
CA170446352 rs772763000	227	Y>H		No	ExAC gnomAD ClinGen
rs760337618 CA170446354	228	S>L		No	ExAC gnomAD ClinGen
CA170446355 rs540662133	229	A>S		No	1000Genomes ExAC gnomAD ClinGen
rs145713784 CA170446358	229	A>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs763294044 CA170446360	232	T>I		No	ClinGen ExAC gnomAD
rs1371911865 CA369988077	233	N>S		No	ClinGen gnomAD
CA369988086 rs1414561718	234	A>V		No	ClinGen TOPMed
CA170446364 rs752034764	235	H>N		No	ClinGen ExAC TOPMed gnomAD
rs761817959 CA170446368	235	H>Q		No	ExAC gnomAD ClinGen
rs752034764 CA170446366	235	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA170446371 rs149104727	236	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA369988097 rs1344140786	237	Q>E		No	TOPMed ClinGen
CA170446374 rs560517224	239	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA170446372 rs560517224	239	S>Y		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA170446380 rs754790407	241	N>S		No	ClinGen ExAC TOPMed gnomAD
rs754790407 CA369988125	241	N>T		No	ClinGen ExAC TOPMed gnomAD
CA170446384 rs200321840	242	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201125974 CA170446388	243	A>E		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA170446389 rs201125974	243	A>V	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1411464203 CA369988139	244	V>G		No	ClinGen gnomAD
rs749698058 CA170446393	244	V>M		No	ClinGen ExAC gnomAD
CA170446397 rs80004134	245	V>A		No	ExAC TOPMed gnomAD ClinGen
CA170446399 rs80004134	245	V>G		No	ExAC TOPMed gnomAD ClinGen
rs879252023 CA369988142	245	V>L		No	ClinGen gnomAD
rs879252023 CA170446395	245	V>M		No	ClinGen gnomAD
CA170446404 rs762311427	246	V>A		No	ExAC gnomAD ClinGen
rs774868083 CA170446402	246	V>L		No	ClinGen ExAC gnomAD
TCGA novel	247	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA170446406 rs767506344	247	R>I		No	ExAC gnomAD ClinGen
CA369988151 rs767506344	247	R>K		No	ExAC gnomAD ClinGen
CA170446408 rs773397156	248	R>W		No	ClinGen ExAC gnomAD
CA170446479 rs143200815	250	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs143200815 CA170446477	250	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
rs375889597 CA170446476 COSM175836	250	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs148242506 CA369988184	251	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs148242506 CA170446483	251	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs778367542 CA170446487	253	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs747480543 CA170446489	253	E>V		No	ExAC gnomAD ClinGen
rs771141844 CA369988207	255	P>A		No	ExAC gnomAD ClinGen
rs771141844 CA170446491	255	P>T		No	ClinGen ExAC gnomAD
rs759679056 CA170446495	256	F>C		No	ExAC gnomAD ClinGen
CA170446497 rs770211930	256	F>L		No	ClinGen ExAC gnomAD
rs368419743 CA170446501	257	R>C		No	ESP ExAC TOPMed gnomAD ClinGen
rs141286372 CA170446503	257	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs141286372 CA170446504	257	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368419743 CA170446499	257	R>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs567616599 CA170446507	258	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1563427684 CA369988225	259	V>M		No	Ensembl ClinGen
rs1052621456 CA170446509	261	L>F		No	ClinGen Ensembl
rs1224404051 CA369988247	262	P>L		No	gnomAD ClinGen
CA170446515 rs556622570	264	G>R		No	1000Genomes ExAC gnomAD ClinGen
CA369988278 rs1201319689	266	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA170447739 rs749371435	266	P>S		No	ExAC TOPMed gnomAD ClinGen
CA369988276 rs749371435	266	P>T		No	ExAC TOPMed gnomAD ClinGen
CA369988289 rs1428815036	268	S>*		No	TOPMed gnomAD ClinGen
CA369988295 rs202106832	269	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1097904 CA170447746 rs202106832	269	S>L	endometrium [Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated
TCGA novel	269	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369988296 rs202106832	269	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs773164212 CA170447752	270	M>I		No	ExAC TOPMed gnomAD ClinGen
CA170447753 rs760463260	271	I>S		No	ExAC TOPMed gnomAD ClinGen
CA170447759 rs564509220	272	P>L	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA170447757 rs564509220	272	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA170447755 rs866754933	272	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
CA170447765 rs764841251	274	T>A		No	ClinGen ExAC TOPMed gnomAD
CA170447768 rs369641198	274	T>K		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170447769 rs369641198	274	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369988325 rs369641198	274	T>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA369988333 COSM353589 rs1324497696	275	H>Q	lung [Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated
CA170447773 rs145346337	276	F>V		No	ESP ClinGen
CA170447782 rs749365756	277	D>E		No	ClinGen ExAC TOPMed gnomAD
rs780604971 CA170447780	277	D>G		No	ClinGen ExAC gnomAD
CA170447777 rs756635455	277	D>H		No	ExAC TOPMed gnomAD ClinGen
COSM169039 rs756635455 CA170447778	277	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA170447786 rs201957693	278	V>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369988346 rs755061905	278	V>F		No	ExAC TOPMed gnomAD ClinGen
CA170447785 rs755061905	278	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA170447788 rs748329843	279	Q>*		No	ExAC gnomAD ClinGen
rs1563430566 CA369988354	279	Q>R		No	ClinGen Ensembl
rs1317737356 CA369988364	280	F>L		No	ClinGen TOPMed
CA369988411 rs1445654284	283	K>R		No	gnomAD ClinGen
CA369988431 rs1193470514	284	F>L		No	TOPMed gnomAD ClinGen
CA369988435 CA170447793 rs771859860	285	G>R		No	ExAC gnomAD ClinGen
rs746796206 CA170447797	287	T>I		No	ClinGen ExAC gnomAD
CA170447801 rs776623159	288	F>C		No	ExAC TOPMed gnomAD ClinGen
CA369988473 rs1454464108	288	F>L		No	gnomAD ClinGen
CA170447803 rs759023429	289	R>K		No	ExAC TOPMed gnomAD ClinGen
rs759023429 CA170447805	289	R>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	290	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA170447807 rs137913055	290	R>S		No	1000Genomes ESP ExAC gnomAD ClinGen
CA369988525 rs1303604409	292	G>S		No	gnomAD ClinGen
COSM1686042 CA170447810 rs763819002	293	E>K	skin [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
rs868801841 CA170447812	294	T>A		No	gnomAD ClinGen
CA369988554 rs1316996365 COSM255932	294	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA369988546 rs868801841	294	T>P		No	gnomAD ClinGen
rs761097988 CA170447816	295	V>I		No	ExAC gnomAD ClinGen
CA369988571 rs1474225671	296	T>P		No	ClinGen TOPMed
rs1018206640 CA170447820	296	T>S		No	ClinGen TOPMed gnomAD
rs538305376 CA369988578	297	L>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs538305376 CA170447822	297	L>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA170447824 COSM750123 rs373509557	299	C>F	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ESP ExAC gnomAD ClinGen cosmic curated NCI-TCGA
CA369988610 rs373509557	299	C>S		No	ESP ExAC gnomAD ClinGen
CA170447826 rs142467640	300	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA170447828 rs900550295	300	T>N		No	TOPMed ClinGen
CA170447832 rs933411186	301	M>T		No	TOPMed ClinGen
CA369988627 rs1197926877	301	M>V		No	gnomAD ClinGen
CA369988649 rs1266678021	302	L>P		No	gnomAD ClinGen
rs201082497 CA170447838	303	V>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs201082497 CA170447836	303	V>M		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs34842328 CA170447840	304	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170447843 rs187266464	305	P>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs746844303 CA170447841	305	P>S		No	ClinGen ExAC TOPMed gnomAD
rs745747740 CA170447847	306	D>G		No	ClinGen ExAC gnomAD
CA170447849 rs769455246	307	L>V		No	ExAC gnomAD ClinGen
rs775192642 CA170447852	308	K>R		No	ExAC TOPMed gnomAD ClinGen
rs139473063 CA170447857	309	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139473063 CA170447855	309	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170447853 rs564805058	309	R>W		No	ClinGen ExAC TOPMed gnomAD
CA369988731 rs1334786082	311	Q>*		No	gnomAD ClinGen
rs1167368266 CA369988735	311	Q>L		No	TOPMed ClinGen
CA369988745 rs1206425309	312	P>A		No	ClinGen TOPMed gnomAD
CA170447859 rs371153717	312	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369988747 rs1206425309	312	P>S		No	ClinGen TOPMed gnomAD
COSM604948 CA170447863 rs368565089	313	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA170447865 rs759987270 COSM3951495	313	R>H	lung Variant assessed as Somatic; 4.725e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA369988762 rs759987270	313	R>L		No	ClinGen ExAC TOPMed gnomAD
rs199843684 CA170447870	314	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199843684 CA170447869 COSM1216488	314	A>T	large_intestine breast [Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated
rs1479024865 CA369988774	314	A>V		No	ClinGen gnomAD
rs780995658 CA369988791	315	E>G		No	ExAC TOPMed gnomAD ClinGen
CA170447876 rs757003110	315	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA170447877 rs780995658	315	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1184447490 CA369988814	316	W>C		No	ClinGen gnomAD
CA170447883 rs745632633	318	R>C		No	ExAC TOPMed gnomAD ClinGen
CA170447881 rs745632633	318	R>G		No	ExAC TOPMed gnomAD ClinGen
CA170447885 rs370310140	318	R>H		No	ESP ExAC TOPMed gnomAD ClinGen
rs745632633 CA170447879	318	R>S		No	ExAC TOPMed gnomAD ClinGen
rs148556846 CA170447889	319	D>N		No	ClinGen ESP gnomAD
TCGA novel	320	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs2272720 CA170448261 VAR_033615	321	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs2272720 CA170448259	321	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746594641 CA369989088	322	L>M		No	ExAC gnomAD ClinGen
rs769276298 CA170448274	325	E>D		No	ClinGen ExAC gnomAD
CA170448272 rs749626189	325	E>Q		No	ClinGen ExAC gnomAD
rs766943672 CA170448276	326	S>C		No	Ensembl ClinGen
rs979600099 CA170448278	327	K>Q		No	ClinGen Ensembl
rs774710010 CA170448280	328	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1319020358 CA369989126	328	W>R		No	gnomAD ClinGen
rs372866377 CA170448282	329	T>M		No	ESP ExAC TOPMed gnomAD ClinGen
CA369989137 rs372866377	329	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs760932529 CA170448285 CA369989152	331	M>I		No	ExAC gnomAD ClinGen
rs773600572 CA170448284	331	M>V		No	ExAC gnomAD ClinGen
CA369989174 rs1158711389	334	G>A		No	ClinGen gnomAD
rs766686706 CA170448287	335	E>K		No	ExAC TOPMed gnomAD ClinGen
CA369989188 rs1398647322	336	G>V		No	ClinGen gnomAD
rs753725880 CA170448289	337	Q>*		No	ExAC gnomAD ClinGen
CA369989192 rs1360328522	337	Q>R		No	ClinGen gnomAD
CA170448291 rs963720379	338	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs963720379 CA369989196	338	A>T		No	ClinGen TOPMed gnomAD
CA170448294 rs759246408	338	A>V		No	ExAC TOPMed gnomAD ClinGen
CA170448300 rs757927003	340	L>R		No	ClinGen ExAC gnomAD
rs561214251 CA170448304	341	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs561214251 CA170448306	341	S>F		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	341	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369989215 rs376024606	342	F>I		No	ESP ExAC TOPMed gnomAD ClinGen
CA170448307 rs376024606	342	F>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA170448311 rs775654136	344	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA369989248 rs1181876696	346	H>Q		No	ClinGen TOPMed gnomAD
rs1451007556 CA369989243	346	H>Y		No	ClinGen gnomAD
rs1234140730 CA369989250	347	K>E		No	gnomAD ClinGen
CA170448317 rs367785041	347	K>N		No	ESP ExAC TOPMed gnomAD ClinGen
rs921445079 CA170448315	347	K>R		No	ClinGen Ensembl
CA170448321 rs114701319	348	D>A		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs114701319 CA369989257	348	D>G		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs772216538 CA170448319	348	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs144735881 CA369989266	349	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA170448324 rs771346272	349	D>N		No	ExAC TOPMed gnomAD ClinGen
rs759387487 CA170448328	350	E>K		No	ExAC gnomAD ClinGen
rs764871791 CA170448330	351	G>V		No	ClinGen ExAC gnomAD
TCGA novel	352	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752708764 CA170448332	352	L>V		No	ExAC ClinGen
CA170448336 rs140464662	353	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140464662 CA170448338	353	Y>F		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA369989293 rs1383888311	354	T>N		No	ClinGen gnomAD
CA170448346 rs755403026	356	R>C	Variant assessed as Somatic; 4.847e-05 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs750971643 CA170448348	356	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs750971643 CA170448349	356	R>L		No	ClinGen ExAC TOPMed gnomAD
rs759014148 CA170448353	357	I>L		No	ExAC gnomAD ClinGen
CA170448355 rs149743024	357	I>N		No	ESP ClinGen
rs759014148 CA170448352	357	I>V		No	ClinGen ExAC gnomAD
rs1563431964 CA369989312	358	V>G		No	Ensembl ClinGen
rs201045176 COSM291591 CA170448357	358	V>M	large_intestine [Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated
CA170448359 rs747143398	359	S>F		No	ClinGen ExAC gnomAD
CA369989318 rs371691940	360	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs199596524 CA369989320	360	R>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs199596524 CA170448363	360	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA170448361 rs371691940 COSM1097905	360	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1437039930 CA369989323	361	G>C		No	ClinGen TOPMed
CA170448369 rs775194236	362	G>S		No	ClinGen ExAC TOPMed gnomAD
CA170448374 rs34316994	363	V>F		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170448373 VAR_033616 rs34316994	363	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
CA369989341 rs1464130805	364	S>T		No	gnomAD ClinGen
rs979709207 CA170448382	365	D>E		No	TOPMed gnomAD ClinGen
rs761320107 CA170448378	365	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs199832033 CA170448381	365	D>V		No	ExAC TOPMed gnomAD ClinGen
CA170448384 rs750115617	366	H>Y		No	ExAC gnomAD ClinGen
rs766025218 CA170448388	367	S>G		No	ClinGen ExAC gnomAD
rs758822676 CA170448391	368	A>P		No	ClinGen ExAC gnomAD
CA369989364 rs758822676 COSM1097906	368	A>T	Variant assessed as Somatic; 5.675e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs778435556 CA170448393	370	L>M		No	ClinGen ExAC gnomAD
rs1462335531 CA369989401	372	V>I		No	TOPMed gnomAD ClinGen
CA369989404 rs1462335531	372	V>L		No	TOPMed gnomAD ClinGen
rs548306718 CA170448396	373	R>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA369989417 rs1351711320	373	R>T		No	ClinGen TOPMed
rs113101593 CA170449244	374	D>G		No	ClinGen Ensembl
rs1254425455 CA369989423	374	D>N		No	ClinGen gnomAD
CA369989653 rs1396599547	375	A>V		No	ClinGen gnomAD
CA369989666 rs375181421 CA170449250	376	D>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs752008528 CA170449248	376	D>G		No	ClinGen ExAC TOPMed gnomAD
rs767925985 CA170449251	377	P>R		No	ExAC TOPMed gnomAD ClinGen
CA369989668 rs1375784526	377	P>S		No	gnomAD ClinGen
rs1323973609 CA369989682	378	L>M		No	gnomAD ClinGen
rs1323973609 CA369989684	378	L>V		No	ClinGen gnomAD
TCGA novel	379	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756181918 CA170449257	379	V>F		No	ExAC gnomAD ClinGen
rs1264868861 CA369989704	380	T>I		No	gnomAD ClinGen
rs138100876 CA170449259	382	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369989719 rs1200663729	382	A>T		No	gnomAD ClinGen
rs138100876 COSM1097907 CA170449261	382	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA170449264 rs755235931	383	P>L		No	ExAC gnomAD ClinGen
rs370042973 CA170449263	383	P>S		No	ESP TOPMed gnomAD ClinGen
CA170449269 rs145411559	384	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	384	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369989742 rs1373635108	384	G>D		No	gnomAD ClinGen
CA170449268 rs145411559	384	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs561672305 CA170449271	386	P>A		No	ClinGen TOPMed gnomAD
rs561672305 CA369989761	386	P>S		No	ClinGen TOPMed gnomAD
CA369989771 rs1208306885	387	M>V		No	TOPMed ClinGen
CA170449276 rs746924995	388	D>E		No	ExAC gnomAD ClinGen
CA369989793 rs1292227995	388	D>G		No	ClinGen TOPMed
CA369989786 rs777574800	388	D>N		No	ClinGen ExAC gnomAD
rs777574800 CA170449273	388	D>Y		No	ClinGen ExAC gnomAD
CA170449278 rs764101418	389	L>F		No	ClinGen gnomAD
CA369989807 rs1452939901	389	L>W		No	ClinGen gnomAD
CA170449280 rs200599155	390	Q>P		No	ExAC TOPMed gnomAD ClinGen
rs200599155 CA369989818	390	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs907908277 CA369989839	392	H>D		No	ClinGen TOPMed gnomAD
rs907908277 CA170449283	392	H>N		No	ClinGen TOPMed gnomAD
CA369989849 rs754313122	392	H>Q		No	ExAC TOPMed gnomAD ClinGen
CA369989859 rs1308670916	393	D>G		No	gnomAD ClinGen
rs759081418 CA170449287	393	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1443314139 CA369989876	394	A>G		No	gnomAD ClinGen
rs117189614 CA170449291	394	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170449296 rs199659384	395	N>I		No	ClinGen ExAC gnomAD
CA170449299 rs767888294	395	N>K		No	ExAC gnomAD ClinGen
CA170449295 rs199659384	395	N>S		No	ClinGen ExAC gnomAD
rs766840550 CA170449305	396	R>L		No	ClinGen ExAC TOPMed gnomAD
rs766840550 CA170449304	396	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA170449303 rs370886250	396	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA369989910 rs1167852353	397	D>E		No	gnomAD ClinGen
CA369989902 rs1478792326	397	D>Y		No	gnomAD ClinGen
CA369989919 rs1422325202	398	Y>C		No	gnomAD ClinGen
CA369989918 rs1422325202	398	Y>F		No	ClinGen gnomAD
CA170449310 rs752848140	399	V>I		No	ExAC TOPMed gnomAD ClinGen
rs1446271607 CA369989944	400	I>T		No	ClinGen gnomAD
rs758159278 CA170449312	400	I>V		No	ExAC gnomAD ClinGen
CA170449316 rs140876932	401	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1276312609 CA369989961	402	T>P		No	gnomAD ClinGen
CA369989989 rs1269931583	404	K>E		No	TOPMed ClinGen
CA369989997 rs1224401353	404	K>N		No	TOPMed ClinGen
rs368706956 CA170449323	405	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs745425940 CA170449322	405	P>S		No	ExAC TOPMed gnomAD ClinGen
rs200681518 CA170449328	406	P>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA170449332 rs768175123	407	N>S		No	ExAC TOPMed gnomAD ClinGen
CA170449330 rs768175123	407	N>T		No	ClinGen ExAC TOPMed gnomAD
CA170449336 rs76494219	408	T>P		No	Ensembl ClinGen
rs143093241 CA170449338	408	T>S		No	ClinGen ESP gnomAD
CA170449339 rs567696131	409	T>I		No	ClinGen TOPMed
CA170449341 rs760942651	410	T>A		No	ExAC TOPMed gnomAD ClinGen
CA369990074 rs1261758396	410	T>I		No	gnomAD ClinGen
rs766930529 CA170449345	411	E>D		No	ExAC gnomAD ClinGen
rs777066038 CA170449347	412	S>N		No	ClinGen ExAC TOPMed gnomAD
CA170449349 rs35523632	413	P>A		No	TOPMed ClinGen
CA170449351 rs759615312 COSM4150696	413	P>H	ovary [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA369990108 rs759615312	413	P>R		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	413	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs575158909 COSM341523 CA170449357	414	V>I	lung [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA369990121 rs575158909	414	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1430199071 CA369990140	415	M>I		No	TOPMed ClinGen
CA369990133 rs1480174612	415	M>L		No	ClinGen TOPMed
CA369990136 rs1421998425	415	M>T		No	gnomAD ClinGen
rs758694645 CA170449358	417	Y>C		No	ExAC TOPMed gnomAD ClinGen
rs1296874163 CA369990187	418	F>L		No	ClinGen gnomAD
CA170449362 rs1009417128	418	F>L		No	ClinGen gnomAD
rs764187775 CA170449364	420	D>G		No	ExAC gnomAD ClinGen
rs1232100587 CA369990197	420	D>N		No	TOPMed ClinGen
CA170449366 rs551822794	421	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs536708249 CA170449370	421	R>L		No	ClinGen ExAC TOPMed gnomAD
rs536708249 CA170449368	421	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA170450314 rs774658374	422	C>R		No	ExAC TOPMed gnomAD ClinGen
CA170450312 rs774658374	422	C>S		No	ExAC TOPMed gnomAD ClinGen
CA369990551 rs1378403396	422	C>S		No	ClinGen TOPMed gnomAD
rs1378403396 CA369990550	422	C>Y		No	TOPMed gnomAD ClinGen
rs767820077 CA170450316	425	G>R		No	ExAC gnomAD ClinGen
rs200668762 CA170450318	426	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA369990579 rs1420173623	427	N>H		No	gnomAD ClinGen
CA369990583 rs1299943362	427	N>S		No	ClinGen gnomAD
rs1398813443 CA369990598	429	W>*		No	TOPMed gnomAD ClinGen
rs1304334962 CA369990603	429	W>C		No	ClinGen TOPMed
TCGA novel	430	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA170450324 rs753652156	430	V>L		No	ClinGen ExAC TOPMed gnomAD
CA170450331 rs187189252	431	Q>*		No	ClinGen 1000Genomes ExAC
CA170450336 rs148816585	431	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA170450330 rs187189252	431	Q>K		No	1000Genomes ExAC ClinGen
rs550285917 CA170450333	431	Q>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
TCGA novel	432	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777395876 CA170450337	432	C>G		No	ClinGen ExAC gnomAD
rs777395876 CA369990614	432	C>R		No	ClinGen ExAC gnomAD
CA369990615 rs1217894606	432	C>Y		No	ClinGen TOPMed gnomAD
CA170450343 rs769993557	433	N>K		No	ClinGen ExAC gnomAD
rs746285716 CA170450340	433	N>S		No	ClinGen ExAC gnomAD
rs780613154 CA170450346	434	D>G		No	ClinGen ExAC TOPMed gnomAD
rs200356012 CA170450348	435	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200356012 CA369990633	435	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370150657 CA170450349	435	A>V		No	ClinGen gnomAD
rs150903286 CA170450355	436	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150903286 CA170450356	436	P>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs368921952 CA170450352	436	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	441	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369990683 rs553300632 CA170450362	442	Y>*		No	1000Genomes TOPMed ClinGen
rs571641809 CA170450364	443	P>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA170450370 rs776651412	444	V>F		No	ClinGen ExAC TOPMed gnomAD
rs373862831 CA170450374	445	T>R		No	ClinGen ESP TOPMed gnomAD
rs1377235255 CA369990695	445	T>S		No	TOPMed gnomAD ClinGen
CA369990702 rs765189717	446	G>E		No	ExAC TOPMed gnomAD ClinGen
CA170450376 rs765189717	446	G>V		No	ClinGen ExAC TOPMed gnomAD
CA170450380 rs757886583	448	F>S		No	ClinGen ExAC TOPMed gnomAD
CA170450382 rs763746186	451	R>G		No	ExAC gnomAD ClinGen
rs201806093 CA170450385	452	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs201806093 CA170450386	452	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1252573125 CA369990741	453	Y>N		No	ClinGen gnomAD
rs1458419587 CA369990757	455	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA170450388 rs556085847	455	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM144672 rs143448287 CA170450390	456	R>*	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated
rs143448287 CA369990763	456	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170450392 rs370995476	456	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA170450394 COSM1097908 rs370995476	456	R>Q	endometrium Variant assessed as Somatic; 0.0002772 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA170450398 rs748253119	457	V>L		No	ExAC TOPMed gnomAD ClinGen
CA170450396 rs748253119	457	V>M		No	ExAC TOPMed gnomAD ClinGen
CA170450400 rs893340630	458	R>T		No	gnomAD ClinGen
CA170450401 rs773602249	459	A>T		No	ClinGen ExAC gnomAD
CA369990784 rs1406705328	460	V>A		No	ClinGen TOPMed
rs747178066 CA170450403	461	N>K		No	ExAC gnomAD ClinGen
rs1158780457 CA369990790 COSM223228	461	N>S	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
COSM178305 CA170450404 rs144104874	463	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs759371061 CA170450406	464	G>V		No	ClinGen ExAC gnomAD
rs1186304883 CA369990812	465	I>V		No	TOPMed ClinGen
CA369990820 rs1485608836	466	S>R		No	TOPMed ClinGen
CA170450408 rs191647850	466	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170450411 rs376737112	467	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs147289605 CA170450416	467	R>L		No	ClinGen ESP
rs147289605 CA170450414	467	R>Q		No	ESP ClinGen
CA170450420 rs762451114	468	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	468	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369990836 rs756903053	469	S>F		No	ClinGen ExAC TOPMed gnomAD
rs756903053 CA170450426	469	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs948883253 CA170450429	470	R>S		No	ClinGen TOPMed
CA170450427 rs767198903	470	R>T		No	ClinGen ExAC gnomAD
rs1200763875 CA369990844	471	V>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA170450431 rs577633385	472	S>C		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	473	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756907355 CA170450433	474	A>E		No	ExAC TOPMed gnomAD ClinGen
rs756907355 CA170450435	474	A>V		No	ExAC TOPMed gnomAD ClinGen
rs200959191 CA170450442	476	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs200959191 CA170450440	476	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA170450443 rs367770117	476	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1423724605 CA369990879	477	A>V		No	gnomAD ClinGen
rs1350568544 CA369990891	479	D>V		No	ClinGen TOPMed gnomAD
rs776898052 CA369990895	480	P>A		No	ExAC gnomAD ClinGen
TCGA novel	480	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745659376 CA170450447	480	P>L		No	ClinGen ExAC gnomAD
CA170450445 rs776898052	480	P>S		No	ClinGen ExAC gnomAD
CA369990911 rs1301348426	482	D>E		No	ClinGen TOPMed gnomAD
rs1461774100 CA369990908	482	D>V		No	gnomAD ClinGen
CA170450451 rs775434827	483	L>F		No	ExAC gnomAD ClinGen
rs1362738782 CA369990915	483	L>H		No	gnomAD ClinGen
CA170450453 rs762825883	484	R>K		No	ClinGen ExAC TOPMed gnomAD
rs773920785 CA170450457	485	R>K		No	ClinGen ExAC gnomAD
CA369990927 rs773920785	485	R>M		No	ExAC gnomAD ClinGen
TCGA novel	487	Q>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA170450461 rs974330448	487	Q>H		No	Ensembl ClinGen
rs1190695074 CA369990940	487	Q>P		No	ClinGen TOPMed
CA369990957 rs1318562532	488	A>D		No	TOPMed ClinGen
CA369990945 rs1298039264	488	A>P		No	gnomAD ClinGen
TCGA novel	488	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144705801 CA170450744	489	V>I		No	ESP ExAC TOPMed gnomAD ClinGen
rs144705801 CA170450745	489	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs770763914 CA170450747	490	H>Y		No	ExAC gnomAD ClinGen
CA170450749 rs776364079	492	E>K		No	ExAC gnomAD ClinGen
rs765937082 CA170450751	493	G>R		No	gnomAD ClinGen
rs1044098127 CA369990995	494	E>D		No	ClinGen TOPMed gnomAD
CA170450753 rs138854390	494	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369990991 rs138854390	494	E>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1193353405 CA369991013	497	I>L		No	ClinGen gnomAD
CA170450760 rs774740203	499	I>V		No	ClinGen ExAC gnomAD
rs542234367 CA170450764	500	Y>D		No	1000Genomes ExAC gnomAD ClinGen
CA170450766 rs750576906	500	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA170450762 rs542234367	500	Y>H		No	1000Genomes ExAC gnomAD ClinGen
CA369991038 rs1474471893	501	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1239011029 CA369991042	501	Q>H		No	TOPMed gnomAD ClinGen
CA170450767 rs756133260	501	Q>L		No	ExAC TOPMed gnomAD ClinGen
CA369991041 rs756133260	501	Q>R		No	ExAC TOPMed gnomAD ClinGen
rs1167061281 CA369991048	502	D>G		No	ClinGen gnomAD
rs754024344 CA369991057	503	D>E		No	ClinGen ExAC TOPMed gnomAD
CA170450769 rs1056963779	503	D>N		No	TOPMed gnomAD ClinGen
CA170450771 rs766597056	503	D>V		No	ExAC gnomAD ClinGen
rs1002809624 CA170450775	504	L>F		No	TOPMed gnomAD ClinGen
rs199950789 CA170450777	505	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1439827425 CA369991063	505	E>Q		No	ClinGen gnomAD
rs749968309 CA170452891	506	G>D		No	ClinGen ExAC gnomAD
CA369991090 rs1178893561	507	D>N		No	TOPMed ClinGen
rs779788503 CA369991099	508	A>S		No	ExAC TOPMed gnomAD ClinGen
CA170452895 rs779788503	508	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1420260867 CA369991100	508	A>V		No	TOPMed gnomAD ClinGen
CA369991103 rs368551401	509	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs368551401 CA170452901	509	Q>E		No	ESP ExAC TOPMed gnomAD ClinGen
CA170452903 rs778154103	509	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs368551401 CA170452899	509	Q>K		No	ESP ExAC TOPMed gnomAD ClinGen
CA369991110 rs1206458506	510	V>F		No	ClinGen TOPMed
rs1381221773 CA369991116	511	P>A		No	gnomAD ClinGen
rs764301395 CA170452905	511	P>L		No	ClinGen gnomAD
rs771483671 CA170452910	512	G>A		No	ClinGen ExAC gnomAD
CA170452908 rs771483671	512	G>E		No	ClinGen ExAC gnomAD
TCGA novel rs747372809 CA170452906	512	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD NCI-TCGA ClinGen
rs142749566 CA170452912	513	P>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA369991125 rs1282949284	513	P>R		No	ClinGen TOPMed
rs142749566 CA170452914	513	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142749566 CA369991122	513	P>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA369991126 rs151039769	514	P>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs151039769 CA170452916	514	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140377334 CA170452918	515	T>A		No	ExAC gnomAD ClinGen
rs1457247726 CA369991133	515	T>I		No	ClinGen TOPMed gnomAD
rs1457247726 CA369991132	515	T>N		No	TOPMed gnomAD ClinGen
rs140377334 CA170452920	515	T>S		No	ExAC gnomAD ClinGen
rs200668783 CA170452926	516	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA170452924 COSM124642 rs557348295	516	G>S	upper_aerodigestive_tract [Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated
rs767568430 CA170452929	517	V>A		No	ClinGen ExAC TOPMed gnomAD
rs767568430 CA369991141	517	V>E		No	ExAC TOPMed gnomAD ClinGen
CA170452927 rs761644576	517	V>M		No	ClinGen ExAC gnomAD
CA170452934 rs146479506	518	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170452931 rs935806985	518	H>Y		No	TOPMed ClinGen
CA170452937 rs765860531	519	A>T		No	ExAC TOPMed gnomAD ClinGen
COSM3432256 rs754695421 CA170452941	521	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs199912698 CA170452943	522	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs757547518 CA170452946	522	I>M		No	ExAC TOPMed gnomAD ClinGen
CA369991170 rs1438300669	522	I>S		No	gnomAD ClinGen
CA170452944 rs199912698	522	I>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs75318724 CA170452950	523	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369991178 rs746307093	524	R>G		No	ExAC TOPMed gnomAD ClinGen
CA170452955 rs770311819	524	R>K		No	ExAC gnomAD ClinGen
CA369991183 rs1401710772	524	R>S		No	ClinGen gnomAD
rs377736889 CA170452957	525	N>K		No	ClinGen ExAC gnomAD
CA170452963 rs774650952	526	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA170452961 rs749381432	526	Y>D		No	ExAC gnomAD ClinGen
CA170452959 rs749381432	526	Y>H		No	ExAC gnomAD ClinGen
CA170452967 rs767372495	527	V>L		No	ClinGen ExAC gnomAD
CA170452971 COSM1097909 rs148851201	528	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	529	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1248300219 CA369991208	529	L>V		No	gnomAD ClinGen
CA170452975 rs753350091	530	S>G		No	ClinGen ExAC gnomAD
rs1289669413 CA369991214	530	S>N		No	TOPMed ClinGen
CA369991218 rs1432584591	530	S>R		No	ClinGen TOPMed
rs369814955 CA170452977	531	W>C		No	ClinGen ESP ExAC gnomAD
CA170452981 rs764871025	533	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1163754479 CA369991243	534	P>H		No	ClinGen gnomAD
CA170452986 rs143424454	535	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA369991249 rs143424454	535	T>N		No	ESP ExAC TOPMed gnomAD ClinGen
rs746211785 CA170452988	536	P>A		No	ClinGen ExAC gnomAD
rs746211785 CA170452989	536	P>S		No	ClinGen ExAC gnomAD
rs192237488 CA170452995	537	R>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
COSM1755660 rs544544159 CA170452997	537	R>H	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA170452993 rs192237488	537	R>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA369991262 rs774736990	538	G>D		No	ClinGen ExAC gnomAD
CA170452999 rs774736990	538	G>V		No	ExAC gnomAD ClinGen
rs137923713 CA369991269 CA170453003	539	K>N		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs760507288 CA170453007	540	D>G		No	ExAC TOPMed gnomAD ClinGen
rs373017762 CA170453005	540	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs760507288 CA170453009	540	D>V		No	ClinGen ExAC TOPMed gnomAD
CA170453014 rs144063996	541	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170453013 rs144063996	541	P>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170453011 rs766243684	541	P>T		No	ExAC gnomAD ClinGen
CA369991288 rs1186662849	543	M>I		No	gnomAD ClinGen
rs187766954 CA170453021	543	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377334790 CA170453019	543	M>V		No	ESP ExAC gnomAD ClinGen
CA369991294 rs1429957239	544	Y>C		No	ClinGen gnomAD
CA170453023 rs750809652	544	Y>D		No	ClinGen ExAC gnomAD
rs373398588 CA170453029	546	I>T		No	ClinGen ESP ExAC gnomAD
CA369991313 rs1314020623	547	E>Q		No	ClinGen TOPMed gnomAD
rs755520055 CA170453033	548	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1268505840 CA369991325	548	K>R		No	ClinGen TOPMed gnomAD
rs1268505840 CA369991323	548	K>T		No	ClinGen TOPMed gnomAD
rs1221529583	549	S>*		No	gnomAD
CA369991448 rs1221529583	549	S>F		No	ClinGen gnomAD
rs1221529583	549	S>L		No	gnomAD
CA369991444 rs1263907186	549	S>P		No	TOPMed ClinGen
rs1221529583 CA369991446	549	S>Y		No	ClinGen gnomAD
CA170454963 rs370818556	550	V>M		No	ESP ExAC TOPMed gnomAD ClinGen
CA170454969 rs1024130084	552	G>E		No	ClinGen Ensembl
rs1467391885 CA369991468	553	S>N		No	gnomAD ClinGen
CA170454973 rs763551552	554	G>S		No	ExAC TOPMed gnomAD ClinGen
CA170454976 rs751717958	555	S>R		No	ClinGen ExAC TOPMed gnomAD
rs201558938 CA170454979	556	W>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA170454981 rs750602791	557	Q>*		No	ExAC gnomAD ClinGen
rs868321202 CA170454983	558	R>G		No	ClinGen Ensembl
CA369991504 rs756307362	558	R>S		No	ClinGen ExAC TOPMed gnomAD
CA369991510 rs1585886847	559	V>G		No	Ensembl ClinGen
COSM1455989 CA170454989 rs749033340	561	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA170454992 rs1004045495	561	A>V		No	TOPMed gnomAD ClinGen
CA369991526 rs1356169960	562	Q>*		No	gnomAD ClinGen
CA170454994 rs61732774	563	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170455000 rs747703242	564	A>V		No	ClinGen ExAC gnomAD
rs369434778 CA170455003	566	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel CA369991558 rs1585886927	567	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
rs746705819 CA170455007	567	S>T		No	ExAC gnomAD ClinGen
CA170455012 rs202191682	568	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA369991561 rs202191682	568	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs542934649 CA170455009	568	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs769219107 CA170455017	571	A>S		No	ExAC gnomAD ClinGen
CA170455015 rs769219107	571	A>T		No	ClinGen ExAC gnomAD
CA170455022 rs750471917	572	V>A		No	ClinGen ExAC gnomAD
rs767633672 CA170455021	572	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1475023528 CA369991601	574	D>E		No	ClinGen gnomAD
rs1232855231 CA369991597	574	D>V		No	TOPMed ClinGen
rs1168215469 CA369991603	575	L>F		No	gnomAD ClinGen
CA170455028 rs766576592	576	M>T		No	ClinGen ExAC gnomAD
rs1305124482 CA369991616	577	E>K		No	TOPMed ClinGen
CA170455032 rs200428421 COSM144673	578	G>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA170455034 rs752532243	580	S>F		No	ClinGen ExAC gnomAD
CA369991647 rs777461483	581	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA170455038 rs758384307	581	Y>C		No	ExAC gnomAD ClinGen
CA170455037 rs1031496687	581	Y>D		No	TOPMed gnomAD ClinGen
rs140039987 CA170455044	584	R>*		No	ESP ExAC TOPMed gnomAD ClinGen
CA369991663 rs1274526609	584	R>Q		No	gnomAD ClinGen
CA170455046 rs770761904	585	V>M		No	ExAC TOPMed gnomAD ClinGen
rs1011635825 CA170455048	588	A>G		No	ClinGen TOPMed
rs780649666 CA170455050	589	N>K		No	ExAC gnomAD ClinGen
TCGA novel	589	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369991695 rs144139938	590	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170455054 rs144139938	590	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA170455052 rs369474138	590	R>W		No	ClinGen ESP TOPMed gnomAD
CA369991698 rs1244122002	591	H>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs1232593583 CA369991708	592	G>D		No	ClinGen TOPMed
rs1395568165 CA369991712	593	L>P		No	ClinGen gnomAD
rs774944195 CA170455060	593	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1008264665 CA170455062	594	S>G		No	ClinGen TOPMed
rs1436510453 CA369991717	594	S>N		No	ClinGen gnomAD
CA170455064 CA369991720 rs762348648	594	S>R		No	ExAC TOPMed gnomAD ClinGen
CA170455066 COSM1455990 rs772563985	595	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA170455070 rs191810510	596	P>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170455068 rs191810510	596	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170455072 rs766631002	597	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA170455078 rs199749262	598	E>A		No	1000Genomes ClinGen
CA170455076 rs753969696	598	E>K		No	ExAC TOPMed gnomAD ClinGen
CA170455080 rs200560063	600	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200560063 CA170455081	600	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	601	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_033617 rs36089594 CA170455085	601	S>Y		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
TCGA novel	602	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867938261 CA170455088	602	P>S		No	ClinGen Ensembl
CA369991799 rs1563047295	605	A>S		No	ClinGen Ensembl
rs756759229 CA170455094	605	A>V		No	ClinGen ExAC gnomAD
rs201665522 CA170455099	606	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201665522 CA170455098	606	Q>E		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA170455103 rs915629156	609	T>A		No	TOPMed ClinGen
CA369991839 rs1235492316	609	T>I		No	TOPMed ClinGen
CA170455917 rs151197787	610	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA170455106 rs748501449	610	V>I		No	ClinGen ExAC gnomAD
CA170455918 rs763933084	611	V>I		No	ExAC gnomAD ClinGen
CA170455926 rs568721995	615	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA170455928 rs755586097	616	G>V		No	ClinGen ExAC gnomAD
rs147556451 CA170455930	617	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1313914 rs1480885317 CA369991933	617	R>W	urinary_tract [Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated
CA369991936 rs1248420157	618	V>I		No	ClinGen gnomAD
rs889325654 CA170455934	620	A>G		No	ClinGen gnomAD
CA369991948 rs1203211718	620	A>T		No	ClinGen TOPMed
rs889325654 CA369991952	620	A>V		No	ClinGen gnomAD
rs1188111634 CA369991958	621	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs200806191 CA170455939	622	R>*		No	ClinGen ExAC TOPMed gnomAD
rs200806191 CA170455938	622	R>G		No	ExAC TOPMed gnomAD ClinGen
rs1163047055 CA369991960	622	R>P		No	gnomAD ClinGen
rs1163047055 CA369991959	622	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs757758751 CA170455944	624	T>I		No	ExAC TOPMed gnomAD ClinGen
CA369991974 rs757758751	624	T>S		No	ClinGen ExAC TOPMed gnomAD
CA170455947 rs770297806	626	T>M		No	ExAC TOPMed gnomAD ClinGen
rs551160356 CA170455945	626	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs768968534 CA170455955	627	S>L		No	ClinGen ExAC
rs761611038 CA170455961	628	V>L		No	ExAC TOPMed gnomAD ClinGen
CA170455959 rs761611038	628	V>M		No	ClinGen ExAC TOPMed gnomAD
CA170455966 rs760128072	629	V>L		No	ExAC gnomAD ClinGen
CA369991996 rs760128072	629	V>M		No	ClinGen ExAC gnomAD
CA369992004 rs1249524453	630	V>A		No	ClinGen gnomAD
CA170455976 rs764852724	630	V>L		No	ExAC TOPMed gnomAD ClinGen
CA369992008 rs1180188737	631	Q>*		No	ClinGen TOPMed
CA170455978 rs751880160	631	Q>R		No	ExAC gnomAD ClinGen
CA369992018 rs1259018153	632	W>*		No	ClinGen gnomAD
CA170455980 rs757573319	632	W>G		No	ClinGen ExAC gnomAD
CA369992028 rs370619523	633	D>E		No	ESP TOPMed gnomAD ClinGen
CA170455985 rs781578541	634	R>*		No	ClinGen ExAC TOPMed gnomAD
rs781578541 CA369992029	634	R>G		No	ExAC TOPMed gnomAD ClinGen
CA170455987 rs750892928	634	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA170455988 rs139300351	637	H>P		No	ESP TOPMed ClinGen
rs756665371 CA170455990	638	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
COSM750119 rs149434055 CA170455994	640	D>E	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA170455992 rs1005156593	640	D>V		No	ClinGen TOPMed gnomAD
rs1197102018 CA369992070	640	D>Y		No	gnomAD ClinGen
TCGA novel	641	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA170455996 rs749366245	641	L>Q		No	ExAC gnomAD ClinGen
rs1377340325 CA369992078	642	L>M		No	ClinGen gnomAD
CA170455997 rs200054208	643	G>S		No	1000Genomes ClinGen
rs1408742337 CA369992093	644	Y>*		No	ClinGen TOPMed
rs769013852 CA170455998	644	Y>C		No	ExAC TOPMed gnomAD ClinGen
CA170456000 rs769013852	644	Y>F		No	ExAC TOPMed gnomAD ClinGen
CA369992099 rs112566516	645	Y>*		No	ExAC TOPMed gnomAD ClinGen
CA369992097 rs1372597658	645	Y>C		No	ClinGen TOPMed gnomAD
CA170456002 rs747928604	645	Y>D		No	ClinGen ExAC gnomAD
rs772863256 CA170456006	646	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1234911627 CA369992106	647	D>N		No	ClinGen gnomAD
CA170456008 rs760711731	647	D>V		No	ExAC gnomAD ClinGen
CA170456010 rs951076920	648	C>R		No	Ensembl ClinGen
CA170456012 rs62478384	648	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170456016 rs758985767	649	C>F		No	ExAC TOPMed gnomAD ClinGen
CA170456019 rs764871109	651	A>P		No	ExAC TOPMed gnomAD ClinGen
CA170456028 rs750721905	652	G>E		No	ClinGen ExAC gnomAD
rs767972373 CA170456026 COSM3412908	652	G>R	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs756106802 CA170456030	653	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs535382733 CA170456034	654	N>H		No	ClinGen 1000Genomes ExAC gnomAD
CA170456037 CA369992152 rs779027327	654	N>K		No	ClinGen ExAC gnomAD
CA170456036 rs555265683	654	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA369992150 rs555265683	654	N>T		No	ClinGen 1000Genomes ExAC gnomAD
rs535382733 CA369992148	654	N>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1455549101 CA369992155	655	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA170456039 rs748454042	655	L>H		No	ExAC gnomAD ClinGen
CA369992156 rs748454042	655	L>P		No	ExAC gnomAD ClinGen
rs1441412881 CA369992165	656	W>C		No	gnomAD ClinGen
CA170456041 rs371680694	656	W>S		No	ESP ExAC gnomAD ClinGen
rs1307089839 CA369992203	661	H>Q		No	ClinGen gnomAD
rs1218087357 CA369992200	661	H>R		No	gnomAD ClinGen
CA369992215 rs1242299411	663	P>H		No	TOPMed ClinGen
rs1482403565 CA369992214	663	P>S		No	ClinGen TOPMed
rs6420202 CA658682828	664	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170456048 rs770864437	664	I>T		No	ExAC gnomAD ClinGen
CA170456051 rs61732775	665	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1585891189 CA369992234	666	Y>*		No	ClinGen Ensembl
rs1246399818 CA369992232	666	Y>C		No	gnomAD ClinGen
rs1344976583 CA369992262	668	R>S		No	ClinGen gnomAD
CA170456641 rs765652847	669	F>L		No	ClinGen ExAC TOPMed gnomAD
rs367658424 CA170456646	670	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs367658424 CA170456645	670	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA170456648 rs773097256	671	V>A		No	Ensembl ClinGen
CA170456652 rs115760721	672	H>D		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170456653 rs757446553	672	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs115760721 CA170456651	672	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750213023 CA170456655	673	G>S		No	ExAC TOPMed gnomAD ClinGen
rs748862655 CA369992299	675	T>N		No	ExAC TOPMed gnomAD ClinGen
CA170456658 rs748862655	675	T>S		No	ClinGen ExAC TOPMed gnomAD
rs36068567 CA170456661	676	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146301966 CA170456660	676	T>S		No	ESP ExAC gnomAD ClinGen
rs777197743 CA170456663	678	E>D		No	ExAC gnomAD ClinGen
CA170456664 rs759765581	679	Q>R		No	ExAC gnomAD ClinGen
CA369992326 rs1367899413	680	Y>H		No	ClinGen gnomAD
rs78708377 CA170456666	681	I>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs201853007 CA170456667	683	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs145550564 CA170456668	683	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA170456669 rs371798384	684	V>D		No	ESP ExAC gnomAD ClinGen
rs762088921 CA170456670	685	K>Q		No	ExAC ClinGen
rs767712943 CA170456672	686	A>T		No	ExAC gnomAD ClinGen
COSM1097912 rs200113883 CA170456673	686	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD
rs1563050225 CA369992366	687	V>F		No	Ensembl ClinGen
rs374452357 CA170456675	688	N>I		No	ExAC TOPMed gnomAD ClinGen
CA170456674 rs374452357	688	N>S		No	ClinGen ExAC TOPMed gnomAD
CA369992381 rs1170327681	689	A>D		No	gnomAD ClinGen
CA369992380 rs1455154644	689	A>S		No	gnomAD ClinGen
CA369992378 rs1455154644	689	A>T		No	gnomAD ClinGen
CA170456677 rs754915537	691	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA170456679 rs142558440	692	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	692	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA170456678 rs778635723	692	M>V		No	ExAC gnomAD ClinGen
rs1403346172 CA369992408	693	S>R		No	ClinGen TOPMed
rs1003583068 COSM144674 CA170456680	693	S>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated
CA369992412 rs1389750185	694	E>A		No	ClinGen TOPMed
CA170456682 rs771867826	695	N>K		No	ClinGen ExAC TOPMed gnomAD
rs370034708 CA170456681	695	N>S		No	ESP ClinGen
CA369992432 rs1372390131	697	Q>P		No	ClinGen TOPMed gnomAD
CA369992433 rs1372390131	697	Q>R		No	TOPMed gnomAD ClinGen
CA369992449 rs1273162803 COSM325899	699	S>*	lung [Cosmic]	No	gnomAD ClinGen cosmic curated
CA369992457 rs1052447579 CA369992456	700	D>E		No	ClinGen TOPMed gnomAD
rs770001816 CA170456685	700	D>H		No	ExAC TOPMed gnomAD ClinGen
rs35335787 CA369992458	701	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs35335787 CA170456687 VAR_033618	701	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs35335787 CA170456688	701	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170456689 rs769145111	702	I>M		No	ClinGen ExAC gnomAD
COSM4150698 CA369992477 rs1253501048	704	V>L	ovary [Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated
TCGA novel	706	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA170456692 rs763643341	707	A>T	Variant assessed as Somatic; 0.0006932 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA369992500 rs1256663821	707	A>V		No	TOPMed ClinGen
rs1159907792 CA369992502	708	L>V		No	gnomAD ClinGen
rs375251527 CA170457138	710	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs750124935 CA170457139	711	P>L		No	ClinGen ExAC TOPMed gnomAD
CA369992531 rs750124935	711	P>R		No	ExAC TOPMed gnomAD ClinGen
CA369992532 rs1230508492	712	S>T		No	ClinGen gnomAD
CA369992535 rs1272480547	712	S>Y		No	ClinGen gnomAD
rs779315427 CA170457141	713	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs959299964 CA170457142	714	P>S		No	TOPMed ClinGen
rs753044621 CA170457143	715	Y>N		No	ClinGen ExAC gnomAD
rs747830355 CA170457146	716	G>A		No	ClinGen ExAC TOPMed gnomAD
CA170457145 rs747830355	716	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs747087458 CA170457147	718	T>A		No	ExAC gnomAD ClinGen
CA170457148 rs147776183	718	T>M		No	ESP ExAC TOPMed gnomAD ClinGen
CA369992574 rs1388914303	719	L>F		No	gnomAD ClinGen
CA369992575 rs1448890649	719	L>P		No	ClinGen gnomAD
CA170457153 rs62478391	721	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170457154 rs768483823	722	C>R		No	ClinGen ExAC gnomAD
CA170457155 rs80261874	723	D>A		No	gnomAD ClinGen
rs79925336 CA170457157	724	G>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1391149219 CA369992617	725	H>Q		No	TOPMed ClinGen
rs767094793 CA170457159	727	M>I		No	ClinGen ExAC TOPMed gnomAD
rs749930306 CA170457160	728	T>S		No	ExAC gnomAD ClinGen
CA369992638 rs1372375635	729	L>V		No	ClinGen TOPMed
rs765956195 CA369992643	730	G>C		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	730	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765956195 CA170457163	730	G>S	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs368377820 CA369992652	731	W>*		No	ESP TOPMed gnomAD ClinGen
rs368377820 CA170457166	731	W>S		No	ESP TOPMed gnomAD ClinGen
CA170457167 rs56139993	732	K>N		No	Ensembl ClinGen
rs1211943119 CA369992667	733	V>D		No	ClinGen TOPMed
rs778160659 CA170457168	734	P>L		No	ExAC TOPMed gnomAD ClinGen
rs1337857616 CA369992671	734	P>S		No	ClinGen TOPMed
rs757677237 CA170457170	735	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA170457171 rs781491386	736	F>L		No	ClinGen ExAC gnomAD
CA170457172 rs745932192	737	S>G		No	ExAC TOPMed gnomAD ClinGen
rs770156526 CA170457173	737	S>I		No	ExAC gnomAD ClinGen
rs770156526 CA369992691	737	S>N		No	ExAC gnomAD ClinGen
CA369992699 rs1331853814	738	G>A		No	ClinGen TOPMed
CA369992697 rs1435893395	738	G>S		No	TOPMed ClinGen
CA170457176 rs369608300	739	G>D		No	1000Genomes gnomAD ClinGen
CA170457175 rs780358676	739	G>S		No	ClinGen ExAC gnomAD
rs149624495 CA170457177	740	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs138840544 CA170457181	741	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1295289035 CA369992712	741	P>S		No	ClinGen gnomAD
CA170457182 rs772719654	742	I>L		No	ExAC gnomAD ClinGen
rs760108202 CA170457183	742	I>T		No	ClinGen ExAC gnomAD
CA369992724 rs1585897782	743	L>Q		No	Ensembl ClinGen
rs1230548701 CA369992725	744	G>S		No	ClinGen gnomAD
CA369992744 rs1490899458	746	Y>F		No	gnomAD ClinGen
CA369992748 rs1266643451	747	L>R		No	ClinGen gnomAD
CA170457184 rs923454017	747	L>V		No	Ensembl ClinGen
CA369992756 rs1249011213	748	D>E		No	gnomAD ClinGen
rs181548900 CA170457186	748	D>G		No	1000Genomes ExAC TOPMed ClinGen
CA170457185 rs142047582	748	D>N		No	ESP ExAC TOPMed gnomAD ClinGen
rs759084834 CA170457187	749	K>R		No	ExAC gnomAD ClinGen
rs764563541 CA170457188	750	R>C		No	ClinGen ExAC TOPMed gnomAD
rs748754177 CA170457189	750	R>H		No	ExAC TOPMed gnomAD ClinGen
CA369992785 rs1410944632	753	H>P		No	gnomAD ClinGen
CA170457192 rs542217959	754	H>P		No	1000Genomes ExAC gnomAD ClinGen
rs768082102 CA170457191	754	H>Y		No	ExAC TOPMed gnomAD ClinGen
CA369992797 rs1251611794	755	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA170457193 rs756223990	755	K>R		No	ClinGen ExAC gnomAD
TCGA novel	755	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369992810 rs780446592	756	N>K		No	ClinGen ExAC gnomAD
rs186567937 CA170457196	757	W>*		No	1000Genomes ExAC gnomAD ClinGen
CA369992816 rs778825435	757	W>*		No	ClinGen ExAC gnomAD
rs778825435 CA170457197	757	W>C		No	ExAC gnomAD ClinGen
CA170457195 rs749573817	757	W>G		No	ClinGen ExAC TOPMed gnomAD
CA369992812 rs749573817	757	W>R		No	ClinGen ExAC TOPMed gnomAD
rs575928170 CA170457199	758	H>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs544848298 CA170457198	758	H>Y		No	Ensembl ClinGen
CA170457201 rs773090655 COSM2785357	759	E>K	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs376661481 CA170457202	759	E>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs770474118 CA170457203	760	V>A		No	ExAC gnomAD ClinGen
CA170457205 rs759303790	761	N>S		No	ClinGen ExAC TOPMed gnomAD
CA170457207 rs774795146	763	S>*		No	ClinGen ExAC TOPMed gnomAD
rs774795146 CA369992851	763	S>L		No	ClinGen ExAC TOPMed gnomAD
rs768172010 CA170457209	764	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA170457208 rs762018235	764	P>S		No	ClinGen ExAC TOPMed gnomAD
CA170457210 rs148330330	765	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756667567 CA170457211 CA170457212	765	S>R		No	ExAC gnomAD ClinGen
rs1404708520 CA369992865	766	K>R		No	ClinGen gnomAD
rs146291971 COSM223229 CA170457215	767	P>L	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs146291971 CA369992871	767	P>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA170457214 rs766631569	767	P>S		No	ClinGen ExAC gnomAD
CA170457213 rs766631569	767	P>T		No	ClinGen ExAC gnomAD
rs748004206 COSM313074 CA170457217	768	T>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA369992875 rs748004206	768	T>K		No	ClinGen ExAC TOPMed gnomAD
rs755652009 CA170457218	769	I>V		No	ExAC TOPMed gnomAD ClinGen
CA170457219 rs373967774	770	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs202157103	771	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs191025165 CA369992892	771	T>K		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs191025165 CA170457221	771	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1391396278 CA369992915	773	D>G		No	gnomAD ClinGen
rs1331724877 CA369992921	774	G>D		No	gnomAD ClinGen
rs764247485 CA170457724	774	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA369992929 rs1273254772	775	L>F		No	ClinGen gnomAD
VAR_020083 CA170457726 rs2294066	776	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
CA369992941 rs1341585469	777	E>G		No	ClinGen TOPMed
rs1447840090 CA369992938	777	E>K		No	ClinGen TOPMed
rs1269766589 CA369992947	778	G>A		No	ClinGen gnomAD
CA170457728 rs991757663	778	G>R		No	TOPMed gnomAD ClinGen
CA170457730 rs141326692	781	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs750378252 CA170457729	781	Y>S		No	ClinGen ExAC gnomAD
rs754682133 CA170457734	782	E>D		No	ClinGen ExAC gnomAD
rs150807019 CA170457733	782	E>G		No	ClinGen ESP ExAC gnomAD
CA170457732 rs765777596 COSM1699687	782	E>K	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs778666567 CA170457735	783	F>L		No	ExAC TOPMed gnomAD ClinGen
rs1267650827 CA369992975	783	F>Y		No	ClinGen gnomAD
rs1160999837 CA369992982	784	K>T		No	ClinGen gnomAD
rs1046865927 CA170457736	785	I>F		No	ClinGen TOPMed gnomAD
rs777020595 CA369992995	786	A>D		No	ClinGen ExAC gnomAD
rs79360172 CA170457738	786	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170457739 rs777020595	786	A>V		No	ClinGen ExAC gnomAD
CA170457741 rs905158337	787	A>T		No	TOPMed ClinGen
rs201329114 CA170457742	787	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1410657222 CA369993004	788	V>D		No	ClinGen gnomAD
CA369993003 rs1345062031	788	V>I		No	TOPMed gnomAD ClinGen
rs775565462 CA170457745	790	L>V		No	ExAC gnomAD ClinGen
rs868235767 CA369993022	791	A>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA170457746 rs868235767	791	A>V		No	gnomAD ClinGen
CA369993025 rs34863717 COSM1552179	792	G>C	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs34863717 CA170457748	792	G>S	Variant assessed as Somatic; 0.0002792 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA170457749 rs189526285	793	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA170457753 rs764744307	794	G>E		No	gnomAD ClinGen
rs76860899 CA170457751	794	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs76860899 CA170457752	794	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1585902866 CA369993038	795	E>Q		No	Ensembl ClinGen
rs1417654729 CA369993048	796	P>S		No	ClinGen TOPMed gnomAD
rs1417654729 CA369993046	796	P>T		No	TOPMed gnomAD ClinGen
rs766272973 CA170457758	797	S>A		No	ExAC gnomAD ClinGen
CA170457759 rs753428534	798	D>G		No	ClinGen ExAC gnomAD
TCGA novel	798	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs112847331 CA170457761	799	P>A		No	ClinGen gnomAD
CA170457762 rs144330258	800	S>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170457766 rs758061651	801	E>D		No	ExAC TOPMed gnomAD ClinGen
CA170457764 rs747840017	801	E>G		No	ExAC gnomAD ClinGen
rs1310027453 CA369993078	801	E>K		No	ClinGen TOPMed gnomAD
CA369993085 rs1342094446	802	H>R		No	TOPMed gnomAD ClinGen
CA170457767 rs749548145	802	H>Y		No	ClinGen gnomAD
CA170457768 rs367679203	803	F>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs1342237569 CA369993101	804	K>M		No	gnomAD ClinGen
CA369993102 rs1206696759	804	K>N		No	gnomAD ClinGen
rs1424322546 CA369993105	805	C>R		No	TOPMed ClinGen
CA170457769 rs746189413	807	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1195539855 CA369993124	807	A>V		No	gnomAD ClinGen
CA170457772 rs749395536	808	W>*		No	ExAC gnomAD ClinGen
rs1487240412 CA369993129	808	W>C		No	TOPMed ClinGen
rs749395536 CA369993127	808	W>L		No	ExAC gnomAD ClinGen
CA170457771 rs775937932	808	W>R		No	ClinGen ExAC TOPMed gnomAD
CA170457773 rs749395536	808	W>S		No	ExAC gnomAD ClinGen
CA369993136 rs1221779722	809	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA369993133 rs1245745179	809	T>P		No	TOPMed ClinGen
rs1453000732 CA369993141	810	M>T		No	ClinGen TOPMed
rs147766516 CA170457776	811	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170457775 rs147766516	811	P>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170457780 rs772885644	812	E>D		No	ClinGen ExAC TOPMed gnomAD
CA170457778 rs767767454	812	E>K		No	ClinGen ExAC TOPMed gnomAD
CA170457779 rs767767454	812	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA369993155 rs1303684046	813	P>T		No	ClinGen TOPMed gnomAD
rs948255554 CA170458197	814	G>A		No	ClinGen TOPMed gnomAD
rs373951587 CA369993162	814	G>C		No	ESP ExAC TOPMed gnomAD ClinGen
CA170457782 rs373951587	814	G>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA369993180 rs1316873444	815	P>L		No	TOPMed gnomAD ClinGen
rs1316873444 CA369993179	815	P>R		No	ClinGen TOPMed gnomAD
TCGA novel	817	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1489890751 CA369993195	818	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs1387992884 CA369993208	819	L>F		No	TOPMed ClinGen
CA170458201 rs151128278	820	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170458203 rs777962735	821	F>L		No	ClinGen ExAC
CA170458204 rs746999980	822	C>Y		No	ExAC gnomAD ClinGen
TCGA novel	825	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369993250 rs1185851126	826	D>N		No	ClinGen TOPMed
CA369993263 rs1424306450	827	T>M		No	TOPMed gnomAD ClinGen
rs745682950 CA170458207	828	S>P		No	ClinGen ExAC TOPMed gnomAD
CA170458209 COSM3951497 rs769765244	829	L>F	lung [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
CA170458211 rs369615134	830	V>D		No	ESP TOPMed ClinGen
rs369615134 CA170458210	830	V>G		No	ESP TOPMed ClinGen
CA369993284 rs1182032223	831	M>I		No	ClinGen gnomAD
rs775120586 CA170458213	831	M>L		No	ExAC TOPMed gnomAD ClinGen
rs904428735 CA170458214	831	M>T		No	ClinGen Ensembl
rs775120586 CA369993280	831	M>V		No	ExAC TOPMed gnomAD ClinGen
CA369993288 rs1357401777	832	L>P		No	ClinGen TOPMed
rs1357401777 CA369993290	832	L>Q		No	ClinGen TOPMed
CA369993298 rs1585907339	833	W>*		No	Ensembl ClinGen
rs1363031865 CA369993296	833	W>L		No	ClinGen gnomAD
CA369993300 rs1563055787	834	K>E		No	ClinGen Ensembl
CA369993305 rs1278166938	834	K>R		No	gnomAD ClinGen
rs1229359075 CA369993310	835	A>S		No	gnomAD ClinGen
rs191644656 CA170458216	835	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	836	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA170458221 CA170458220 rs376742717	837	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA170458219 rs376742717	837	V>M		No	ESP ExAC TOPMed gnomAD ClinGen
rs767177766 CA170458222	839	S>A		No	ClinGen ExAC gnomAD
rs1202756599 CA369993334	839	S>F		No	gnomAD ClinGen
rs1202756599 CA369993332	839	S>Y		No	gnomAD ClinGen
CA170458225 rs138971535	840	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA170458224 rs200975584	840	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1563055819 CA369993350	842	S>N		No	Ensembl ClinGen
CA170458228 rs758953623	843	P>H		No	ExAC gnomAD ClinGen
CA170458229 rs758953623	843	P>R		No	ExAC gnomAD ClinGen
CA369993356 rs1168707694	843	P>T		No	ClinGen gnomAD
rs757367240 CA170458231	844	V>I		No	ExAC gnomAD ClinGen
CA170458232 rs781403353	845	S>F		No	ExAC gnomAD ClinGen
CA170458233 rs746137012	846	G>A		No	ExAC gnomAD ClinGen
rs779958023 CA170458235	847	Y>H		No	ExAC gnomAD ClinGen
rs1298397346 CA369993384	848	F>C		No	gnomAD ClinGen
CA170458237 rs768644682	849	V>M	Variant assessed as Somatic; 0.0005543 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA170458239 rs748053873	850	D>H		No	ExAC gnomAD ClinGen
rs1389947841 CA369993398	850	D>V		No	ClinGen TOPMed
CA369993395 rs748053873	850	D>Y		No	ExAC gnomAD ClinGen
CA369993408 rs1205335523	851	F>L		No	gnomAD ClinGen
CA170458240 rs572028675	852	R>G		No	1000Genomes ExAC gnomAD ClinGen
rs1189195518 CA369993414	852	R>S		No	ClinGen gnomAD
CA369993411 rs1460832217	852	R>T		No	ClinGen gnomAD
rs772703268 CA369993415	853	E>K		No	ExAC TOPMed gnomAD ClinGen
rs772703268 CA170458241	853	E>Q		No	ExAC TOPMed gnomAD ClinGen
CA369993423 rs1474177990	854	E>*		No	ClinGen gnomAD
CA170458242 rs760373895	854	E>G		No	ExAC gnomAD ClinGen
CA369993426 rs760373895	854	E>V		No	ExAC gnomAD ClinGen
CA170458243 rs765885771	857	G>E		No	ClinGen ExAC TOPMed gnomAD
CA170458244 rs765885771	857	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1391797541 CA369993453	858	E>D		No	Ensembl ClinGen
CA170458246 rs763183832	858	E>Q		No	ClinGen ExAC gnomAD
rs764687086 CA170458247	859	W>C		No	ClinGen ExAC gnomAD
CA170458249 rs762382419	861	T>I		No	ClinGen ExAC gnomAD
CA369993469 rs1428740590	861	T>P		No	gnomAD ClinGen
rs750518015 CA170458251	862	V>A		No	ExAC gnomAD ClinGen
rs948286238 CA170458253	863	N>S		No	ClinGen gnomAD
rs1452385289 CA369993487	864	Q>*		No	TOPMed ClinGen
rs928104122 CA170458256	864	Q>H		No	ClinGen Ensembl
CA170458255 rs377099851	864	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA170458254 rs377099851	864	Q>R		No	ESP ExAC TOPMed gnomAD ClinGen
rs370494955 CA369993494	865	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170458257 rs370494955	865	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1057325185 CA170458259	866	T>A		No	ClinGen TOPMed
CA170458261 rs778646566	868	A>V		No	ExAC gnomAD ClinGen
rs748149917	869	S>D		No	ExAC gnomAD
CA170458262 rs748149917	869	S>G		No	ClinGen ExAC gnomAD
rs968381 VAR_054501 CA170458263	869	S>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs968381	869	S>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs777274395 CA170458264 COSM375120	870	R>C	lung [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
COSM1455993 CA170458265 rs144235879	870	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA369993518 rs144235879	870	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1469664687 CA369993526	871	Y>*		No	ClinGen gnomAD
CA369993535 rs1305722792	873	K>Q		No	ClinGen TOPMed
TCGA novel	874	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1014390654 CA170458599	874	V>I		No	TOPMed gnomAD ClinGen
CA369993565 rs1300189461	875	S>F		No	gnomAD ClinGen
rs1429017090 CA369993561	875	S>P		No	ClinGen TOPMed
CA170458602 rs752516883	877	L>P		No	ExAC gnomAD ClinGen
CA170458601 rs765372688	877	L>V		No	ClinGen ExAC TOPMed gnomAD
rs763852452 CA170458605	878	Q>H		No	ExAC TOPMed gnomAD ClinGen
CA170458608 rs745325388	880	G>A		No	ClinGen ExAC gnomAD
rs758825285 CA170458607	880	G>R		No	ClinGen ExAC TOPMed gnomAD
CA170458606 rs758825285	880	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1396134868 CA369993596	881	K>E		No	TOPMed gnomAD ClinGen
CA170458609 rs866837822	881	K>T		No	Ensembl ClinGen
rs755833925 CA170458610	882	T>N		No	ClinGen ExAC gnomAD
rs748547624 CA170458612	884	V>I		No	ExAC gnomAD ClinGen
CA170458613 rs536142919	885	F>C		No	ClinGen 1000Genomes ExAC gnomAD
rs773619988 CA170458614 CA170458615	886	R>S		No	ExAC gnomAD ClinGen
CA369993635 rs1240151171	887	V>D		No	TOPMed ClinGen
CA369993640 rs1172730058	888	R>L		No	ClinGen TOPMed gnomAD
CA369993639 rs1172730058	888	R>Q		No	ClinGen TOPMed gnomAD
CA170458616 rs771411219	888	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs367733920 CA170458617	889	A>G		No	ESP ExAC TOPMed gnomAD ClinGen
rs1235055272 CA369993642	889	A>T		No	ClinGen TOPMed
rs759616539 CA170458618	891	N>S		No	ExAC TOPMed gnomAD ClinGen
rs1563057106 CA369993666	892	A>G		No	ClinGen Ensembl
rs1176917015 CA369993662	892	A>T		No	ClinGen gnomAD
CA170458620 rs765464658	893	N>H		No	ExAC gnomAD ClinGen
rs555727295 CA170458622	893	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA369993677 rs763946571	894	G>A		No	ClinGen ExAC TOPMed gnomAD
rs763133482 CA369993674	894	G>R		No	ExAC TOPMed gnomAD ClinGen
rs763133482 CA170458623	894	G>S		No	ExAC TOPMed gnomAD ClinGen
rs763946571 CA170458624	894	G>V		No	ClinGen ExAC TOPMed gnomAD
CA170458626 rs192100653	895	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767422080 CA170458627	898	P>S		No	ExAC gnomAD ClinGen
rs1158981328 CA369993702	899	S>T		No	TOPMed ClinGen
CA170458630 COSM1331071 rs779691808	900	D>H	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs779691808 CA369993708	900	D>N		No	ClinGen ExAC TOPMed gnomAD
CA170458631 rs749013679	901	T>A		No	ExAC gnomAD ClinGen
CA170458632 rs777488244	901	T>K		No	ExAC TOPMed gnomAD ClinGen
rs777488244 CA170458633	901	T>M		No	ClinGen ExAC TOPMed gnomAD
CA170458636 rs369613732	902	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA170458638 rs369613732	902	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs530164443 CA170458635	902	S>T		No	ClinGen ExAC TOPMed gnomAD
rs369613732 CA170458637	902	S>W		No	ESP ExAC TOPMed gnomAD ClinGen
CA369993724 rs1259857790	903	E>G		No	TOPMed gnomAD ClinGen
CA170458641 rs749206200	904	P>A		No	ExAC TOPMed gnomAD ClinGen
CA369993730 rs768869425	904	P>H		No	ExAC TOPMed gnomAD ClinGen
CA170458642 rs768869425	904	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA369993729 rs749206200	904	P>S		No	ExAC TOPMed gnomAD ClinGen
rs749206200 CA369993728	904	P>T		No	ExAC TOPMed gnomAD ClinGen
rs1345714651 CA369993747	907	V>G		No	gnomAD ClinGen
rs140537822 CA170458645	907	V>I		No	ClinGen ESP TOPMed
rs1286632036 CA369993748	908	E>K		No	ClinGen TOPMed gnomAD
rs1286632036 CA369993749	908	E>Q		No	TOPMed gnomAD ClinGen
rs761629305 CA170458646	909	A>T		No	ExAC gnomAD ClinGen
rs539873539 CA170458647	909	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1362930768 CA369993764	910	R>I		No	TOPMed ClinGen
rs569930476 CA170458649	910	R>S		No	gnomAD ClinGen
rs760683300 CA170458651	911	P>A		No	ClinGen ExAC TOPMed gnomAD
rs753340592 CA170458652	911	P>R		No	ExAC gnomAD ClinGen
CA170458650 rs760683300	911	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	912	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778830839 CA170459294	912	G>D		No	ClinGen ExAC TOPMed gnomAD
CA170458654 rs371681455	912	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1273993203 CA369993786	913	T>N		No	gnomAD ClinGen
CA170459297 rs377663358	914	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA170459298 rs570783506	915	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1563059532 CA369993802	915	E>D		No	ClinGen Ensembl
CA170459301 rs370667622	921	D>H		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs370667622 CA170459300	921	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA170459302 rs139030625	922	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs764866583 CA170459303	923	Q>*		No	ClinGen ExAC gnomAD
CA369993850 rs764866583	923	Q>E		No	ExAC gnomAD ClinGen
CA170459305 rs566969575	924	G>C		No	ClinGen 1000Genomes ExAC gnomAD
rs755880783 CA170459306	926	I>M		No	ExAC gnomAD ClinGen
CA369993873 rs1421212321	926	I>T		No	ClinGen gnomAD
CA369993870 rs1447784251	926	I>V		No	gnomAD ClinGen
CA170459308 rs117165873	927	Y>C		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA369993877 rs1168799395	927	Y>H		No	gnomAD ClinGen
CA369993878 rs117165873	927	Y>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170459310 rs754083150	928	L>R		No	ClinGen Ensembl
CA170459309 rs766711606	928	L>V		No	ExAC TOPMed gnomAD ClinGen
rs149208633 CA170459312	929	G>A		No	ESP ExAC TOPMed gnomAD ClinGen
rs555520987 CA170459314	930	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA170459317 rs575044124	931	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575044124 CA170459316	931	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs747211012 CA170459319	932	C>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs778088043 CA170459318	932	C>Y		No	ExAC TOPMed gnomAD ClinGen
RCV001007824 rs770888659 CA170459320	933	Q>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA170459321 rs776562103	934	E>Q		No	ClinGen ExAC gnomAD
rs867867066 CA170459322	935	M>I		No	ClinGen TOPMed gnomAD
rs1261191757 CA369993924	935	M>V		No	gnomAD ClinGen
rs1193319239 CA369993932	936	T>A		No	gnomAD ClinGen
rs1243436117 CA369993936	936	T>I		No	gnomAD ClinGen
CA170459324 rs745874438	937	D>E		No	ExAC TOPMed gnomAD ClinGen
CA170459326 rs186389832	938	A>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA369993944 rs61733861	938	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170459325 rs61733861	938	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170459327 rs186389832	938	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA170459329 rs761427827	939	S>F		No	ExAC TOPMed gnomAD ClinGen
rs1413934526 CA369993958	940	Q>H		No	TOPMed gnomAD ClinGen
CA170459330 rs540171187	941	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1428885125 CA369993970	942	T>I		No	gnomAD ClinGen
rs754090920 CA170459331	942	T>S		No	ClinGen ExAC TOPMed gnomAD
rs893860335 CA170459333	943	W>*		No	ClinGen Ensembl
rs755510511 CA170459332	943	W>R		No	ClinGen ExAC gnomAD
rs1563059666 CA369993984	944	C>Y		No	ClinGen Ensembl
CA369993988 rs1225119052	945	K>E		No	ClinGen gnomAD
rs765618127 CA170459334	945	K>T		No	ClinGen ExAC gnomAD
rs1480739884 CA369993997	946	S>Y		No	ClinGen TOPMed
CA170459339 rs146758026	947	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170459338 rs529178385	947	Y>H		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1224590160 CA369994010	948	E>D		No	TOPMed ClinGen
rs757537628 CA170459342	948	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA170459343 rs757537628	948	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA369994019 rs1326319629	949	E>D		No	ClinGen TOPMed
CA170459344 rs745583860	952	D>H		No	ExAC gnomAD ClinGen
CA369994047 rs1286480936	953	D>E		No	TOPMed ClinGen
rs140682467 CA170459346	954	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200355577 CA170459345	954	E>G		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA369994056 rs1490605238	955	R>K		No	ClinGen gnomAD
TCGA novel	955	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369994067 rs1405014862	956	F>L		No	ClinGen TOPMed
rs375188148 CA170459348	956	F>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA170459350 rs773849428	957	K>E		No	ExAC gnomAD ClinGen
CA170459349 rs773849428	957	K>Q		No	ClinGen ExAC gnomAD
rs3817705 CA849714373	958	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761514238 CA170459351	958	I>T		No	ExAC TOPMed gnomAD ClinGen
CA369994082 rs1419220772	959	E>G		No	TOPMed ClinGen
CA170459354 rs371806126	959	E>K		No	ESP ExAC TOPMed gnomAD ClinGen
CA369994079 rs371806126	959	E>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA170459355 rs765609218	960	T>I		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	960	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1563059775 CA369994093	961	V>A		No	Ensembl ClinGen
rs140995511 CA369994091 CA170459359	961	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs140995511 CA170459358	961	V>M		No	ESP ExAC TOPMed gnomAD ClinGen
rs750255057 CA170459364	962	G>A		No	ClinGen ExAC gnomAD
CA369994095 CA369994096 rs1330339118	962	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	962	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	964	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1316073817 CA369994146	967	L>R		No	ClinGen TOPMed
COSM1489172 CA369994154 rs1247877213	968	Y>*	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
CA170459390 rs778771138	969	L>F		No	ExAC gnomAD ClinGen
CA369994167 rs1585917412	970	K>N		No	Ensembl ClinGen
CA170459391 rs748051802	970	K>R		No	ExAC gnomAD ClinGen
rs373388952 CA170459392	971	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA170459393 rs577646766	972	P>L		No	1000Genomes ExAC gnomAD ClinGen
rs577646766 CA170459394	972	P>Q		No	1000Genomes ExAC gnomAD ClinGen
CA369994177 rs1373565918	972	P>S		No	ClinGen TOPMed gnomAD
rs377486672 CA170459399	973	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs915338804 CA170459398	973	D>G		No	Ensembl ClinGen
rs568244508 CA170459397	973	D>Y		No	Ensembl ClinGen
CA170459401 rs1014053507	974	K>N		No	TOPMed ClinGen
CA170459403 rs775047488	975	E>A		No	ClinGen ExAC gnomAD
CA170459402 rs769310253	975	E>K		No	ClinGen ExAC gnomAD
rs1365806865 CA369994206	977	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs528082365 CA170459404	979	T>N		No	ClinGen ExAC TOPMed gnomAD
CA170459405 rs528082365	979	T>S		No	ExAC TOPMed gnomAD ClinGen
rs1427441204 CA369994229	980	Y>*		No	TOPMed ClinGen
rs767563473 CA170459406	981	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs754812111 CA170459411	982	V>A		No	ClinGen ExAC TOPMed gnomAD
rs754812111 CA369994236	982	V>G		No	ExAC TOPMed gnomAD ClinGen
CA170459410 rs143709896 CA170459409	982	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143709896 CA170459408	982	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA170459413 rs752697069	983	S>C		No	ClinGen ExAC gnomAD
TCGA novel	983	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1490223115 CA369994252	985	S>T		No	ClinGen TOPMed
CA369994257 rs1292604384	986	D>H		No	ClinGen TOPMed
rs1224917587 CA369994265	987	T>A		No	TOPMed ClinGen
rs1198555852 CA369994267	987	T>I		No	ClinGen gnomAD
rs777160311 CA170459416 COSM604937	989	G>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA369994279 rs1585917596	989	G>E		No	Ensembl ClinGen
rs777160311 CA170459415 CA369994278	989	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs140558918 CA369994286	990	V>A		No	1000Genomes ExAC gnomAD ClinGen
CA170459417 rs140558918	990	V>G		No	1000Genomes ExAC gnomAD ClinGen
rs142835525 CA170459419	991	S>F		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170459421 rs769183543	992	S>A		No	ExAC gnomAD ClinGen
CA369994301 rs1477382806	993	S>I		No	TOPMed gnomAD ClinGen
rs1005732129 CA170459422	993	S>R		No	ClinGen Ensembl
CA369994309 rs1176990447	994	F>S		No	gnomAD ClinGen
CA170459425 rs748665683	997	D>N		No	ExAC TOPMed gnomAD ClinGen
rs76982034 CA170459427	998	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170459426 rs772575846	998	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1383555853 CA369994340	999	E>D		No	gnomAD ClinGen
rs1293068780 CA369994344	1000	E>*		No	ClinGen gnomAD
rs148418008 CA170459815	1000	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372857655 CA170459817	1001	L>F		No	ESP ExAC TOPMed gnomAD ClinGen
rs751555904 CA170459818	1001	L>R		No	ExAC gnomAD ClinGen
CA369994365 rs1374727709	1002	E>G		No	TOPMed gnomAD ClinGen
CA170459822 rs543700994	1002	E>K		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs543700994 CA369994362	1002	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201936648 CA170459824	1003	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170459825 rs75528197	1003	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA369994389 rs1376335561	1006	A>T		No	TOPMed gnomAD ClinGen
rs1246966051 CA369994394	1006	A>V		No	TOPMed gnomAD ClinGen
CA170459827 rs758835374 COSM1552175	1008	S>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs758835374 CA170459828	1008	S>T		No	ClinGen ExAC TOPMed gnomAD
rs980378985 CA170459829	1009	N>Y		No	TOPMed gnomAD ClinGen
CA369994417 rs1437737139	1010	E>A		No	TOPMed ClinGen
CA170459830 rs777992247	1010	E>K		No	ClinGen ExAC TOPMed gnomAD
rs771369349 CA170459832	1011	I>R		No	ClinGen ExAC gnomAD
CA170459833 rs1001318252	1013	N>S		No	Ensembl ClinGen
rs1237019553	1014	P>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1308318226 CA369994451	1015	T>A		No	TOPMed gnomAD ClinGen
CA369994465 rs760681285	1015	T>I		No	ClinGen ExAC TOPMed gnomAD
CA170459946 rs760681285	1015	T>K		No	ExAC TOPMed gnomAD ClinGen
rs765969632 CA170459947	1016	I>F		No	ClinGen ExAC gnomAD
CA170459948 rs533119927	1016	I>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369994472 rs1215986911	1017	P>A		No	gnomAD ClinGen
rs759229996 CA170459949	1018	L>V		No	ExAC gnomAD ClinGen
COSM1097916 CA170459952 rs201134786	1020	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA369994493 rs201134786	1020	S>W		No	ExAC TOPMed gnomAD ClinGen
rs1481048424 CA369994494	1021	E>Q		No	TOPMed gnomAD ClinGen
CA170459955 VAR_020084 CA170459956 rs2280896	1022	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD UniProt dbSNP
CA369994510 rs1585921845	1023	A>G		No	Ensembl ClinGen
rs1413982973 CA369994514	1024	Y>D		No	ClinGen TOPMed gnomAD
CA369994513 rs1413982973	1024	Y>N		No	TOPMed gnomAD ClinGen
TCGA novel	1025	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369994521 rs1160056002	1025	E>K		No	gnomAD ClinGen
CA369994522 rs1160056002	1025	E>Q		No	gnomAD ClinGen
CA170459958 rs192252057	1026	I>V		No	ClinGen 1000Genomes
CA170459960 rs780196572	1028	D>H		No	ExAC TOPMed gnomAD ClinGen
rs780196572 CA170459959	1028	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA369994550 rs1345982947	1029	K>E		No	ClinGen TOPMed gnomAD
COSM360386 rs199799785 CA170459962	1029	K>N	lung [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA369994559 rs1343581637	1030	G>E		No	ClinGen gnomAD
rs1273016042 CA369994556	1030	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA369994561 rs1343581637	1030	G>V		No	ClinGen gnomAD
CA170459966 rs370717749 COSM1644802	1031	R>Q	salivary_gland Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs377671524 CA170459964	1031	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1262906190 CA369994567	1032	V>F		No	ClinGen gnomAD
rs770705626 CA170459969	1033	R>C	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA170459970 COSM604935 rs776234545	1033	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA170459971 rs776234545	1033	R>P		No	ClinGen ExAC TOPMed gnomAD
CA170459972 rs935682128	1034	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
rs769325159 CA170459973	1035	W>C		No	ExAC gnomAD ClinGen
CA369994612 rs1382294077	1039	E>A		No	gnomAD ClinGen
CA369994611 rs1159199810	1039	E>K		No	ClinGen gnomAD
rs1227739229 CA369994620	1040	H>P		No	TOPMed ClinGen
CA170459977 rs767930123	1040	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA369994622 rs1227739229	1040	H>R		No	TOPMed ClinGen
CA170459979 rs750729282	1042	S>L		No	ClinGen ExAC TOPMed gnomAD
rs761252942 CA369994640	1043	P>L		No	ExAC TOPMed gnomAD ClinGen
CA170459980 rs761252942	1043	P>R		No	ClinGen ExAC TOPMed gnomAD
CA369994643 rs1394436257	1044	D>Y		No	TOPMed ClinGen
CA170459982 rs139827456	1045	A>S		No	ExAC TOPMed gnomAD ClinGen
CA170459981 rs139827456	1045	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1310768913 CA369994652	1045	A>V		No	ClinGen gnomAD
rs1238902741 CA369994654	1046	S>G		No	ClinGen TOPMed gnomAD
CA369994656 rs755065137	1046	S>N		No	ExAC gnomAD ClinGen
CA170459984 rs755065137	1046	S>T		No	ExAC gnomAD ClinGen
rs143884950 CA170459986 CA170459987	1047	Y>*		No	ESP ExAC TOPMed gnomAD ClinGen
CA170459985 rs779042226	1047	Y>C		No	ClinGen ExAC gnomAD
rs140212457 COSM107696 CA170459988	1048	R>*	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs746759229 CA369994667	1048	R>L		No	ClinGen ExAC TOPMed gnomAD
rs746759229 CA369994666	1048	R>P		No	ExAC TOPMed gnomAD ClinGen
rs746759229 CA170459989 COSM1097918	1048	R>Q	Variant assessed as Somatic; 0.0 impact. skin endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA369994671 rs1249250330	1049	F>S		No	ClinGen TOPMed
CA170459990 rs942007768	1051	I>T		No	TOPMed ClinGen
rs1240085313 CA369994694	1052	N>I		No	ClinGen gnomAD
rs2280897 CA170459991	1052	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs867013424 CA170459995	1053	D>E		No	ClinGen Ensembl
CA170459993 rs373969624 COSM2785385	1053	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA170459994 rs373969624	1053	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA369994701 rs774968338	1054	R>*		No	ExAC TOPMed gnomAD ClinGen
CA170459996 rs774968338	1054	R>G		No	ExAC TOPMed gnomAD ClinGen
rs139759886 CA170459997	1055	E>*		No	ClinGen ESP ExAC TOPMed
rs150025412 CA369994718	1056	V>A		No	ESP ExAC TOPMed gnomAD ClinGen
rs150025412 CA170459999	1056	V>G		No	ESP ExAC TOPMed gnomAD ClinGen
rs993712717 CA170460000	1057	S>C		No	gnomAD ClinGen
CA170460001 rs537361883	1058	D>E		No	ClinGen 1000Genomes TOPMed gnomAD
rs1306438235 CA369994735	1059	S>T		No	ClinGen TOPMed
CA170460005 rs766747529	1060	E>D		No	ClinGen ExAC gnomAD
CA369994739 rs1375888081	1060	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA170461207 rs368519542	1062	H>P		No	ESP ExAC TOPMed gnomAD ClinGen
CA170461208 rs368519542	1062	H>R		No	ESP ExAC TOPMed gnomAD ClinGen
rs775732814 CA170461209	1063	R>*		No	ExAC gnomAD ClinGen
rs763172888 CA170461210	1065	K>I		No	ClinGen ExAC gnomAD
CA170461211 rs764237920	1066	C>Y		No	ExAC TOPMed gnomAD ClinGen
rs538882884 CA170461212 CA170461213	1067	D>E		No	ExAC TOPMed gnomAD ClinGen
rs767230221 CA170461214	1069	A>P		No	ClinGen ExAC gnomAD
CA369994819 rs980135880	1070	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA170461215 rs980135880	1070	T>S		No	ClinGen TOPMed gnomAD
CA369994823 rs1318945171	1071	G>D		No	TOPMed gnomAD ClinGen
CA369994839 rs1484147146	1073	I>M		No	TOPMed ClinGen
rs1183241974 CA369994837	1073	I>T		No	ClinGen TOPMed
TCGA novel	1074	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369994841 rs1460357517	1074	E>Q		No	Ensembl ClinGen
rs377763905 CA170461216	1075	M>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA369994858 rs1360788009	1076	V>M		No	ClinGen gnomAD
CA170461217 rs756466561	1077	M>V		No	Ensembl ClinGen
CA170461218 rs756077779	1078	D>H		No	ClinGen ExAC gnomAD
CA170461219 rs779920591	1079	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs201298942 CA170461221	1079	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA170461220 COSM1686043 rs201298942	1079	R>Q	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	1000Genomes ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs1399917281 CA369994880	1080	F>L		No	ClinGen gnomAD
CA369994891 rs1585932697	1081	S>T		No	Ensembl ClinGen
CA369994896 rs371188995	1082	I>F		No	ESP ExAC TOPMed gnomAD ClinGen
rs371188995 CA170461222	1082	I>V		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	1083	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747765834 CA170461223	1084	N>D		No	ExAC gnomAD ClinGen
CA170461224 rs1017886743	1085	E>D		No	ClinGen TOPMed
rs561482549 CA369994932	1087	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561482549 CA170461227	1087	T>N		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs776888745 CA170461226	1087	T>S		No	ClinGen ExAC gnomAD
CA369994937 rs1288404147	1088	Y>C		No	ClinGen TOPMed
rs770258985 CA170461228	1089	T>A		No	ExAC gnomAD ClinGen
CA170461230 rs776180389	1089	T>I		No	ClinGen ExAC TOPMed gnomAD
rs776180389 CA170461229	1089	T>N		No	ClinGen ExAC TOPMed gnomAD
CA170461232 rs764327798 CA170461231	1090	V>L		No	ClinGen ExAC gnomAD
CA369994950 COSM1097921 rs1585932793	1091	Q>*	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1332630237 CA369994954	1091	Q>H		No	TOPMed ClinGen
rs1563066180 COSM1455997 CA369994960	1092	I>T	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA170461233 rs774431964	1093	H>L		No	ClinGen ExAC TOPMed gnomAD
CA170461235 rs149157793	1094	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs761946751 CA170461234	1094	D>H		No	ClinGen ExAC gnomAD
rs750210401 CA170461236	1096	K>E		No	ClinGen ExAC gnomAD
rs372685956 CA170461237	1096	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1411394617 CA369994989	1097	A>P		No	ClinGen TOPMed
rs1283998092 CA369994996	1098	K>E		No	gnomAD ClinGen
TCGA novel	1099	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs182007879 CA170461239	1101	S>F		No	1000Genomes ExAC gnomAD ClinGen
rs530094057 CA170461238	1101	S>P		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs376892108 CA170461240	1102	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA170461241 rs778287356	1103	L>V		No	ClinGen ExAC TOPMed gnomAD
rs747650908 CA170461243	1105	L>F		No	ClinGen ExAC gnomAD
CA170461244 rs747650908	1105	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	1105	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747650908 CA170461242	1105	L>V		No	ExAC gnomAD ClinGen
rs1370335908 CA369995044	1106	I>T		No	gnomAD ClinGen
CA170461245 rs143305181	1107	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1285632269 CA369995055	1108	D>G		No	ClinGen gnomAD
CA170461246 rs746628181	1108	D>N		No	ClinGen ExAC gnomAD
CA170461248 rs780552871	1109	A>T		No	ExAC gnomAD ClinGen
rs1376612980 CA369995090	1111	K>N		No	gnomAD ClinGen
rs1020282835 CA170461287	1112	T>S		No	ClinGen Ensembl
CA170461288 rs968060373	1113	V>A		No	Ensembl ClinGen
CA369995097 rs1585933200	1113	V>M		No	Ensembl ClinGen
TCGA novel	1115	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1232480097 CA369995108	1115	E>Q		No	ClinGen gnomAD
rs1226585625 CA369995131	1118	E>*		No	ClinGen TOPMed
CA170461290 COSM3367286 rs199787589	1119	F>L	kidney [Cosmic]	No	1000Genomes ClinGen cosmic curated
rs778240121 CA170461291 COSM3367286	1119	F>L	kidney [Cosmic]	No	Ensembl ClinGen cosmic curated
CA170461292 rs201504369	1120	Q>E		No	1000Genomes ExAC gnomAD ClinGen
CA170461293 rs773272096	1121	R>G		No	ClinGen ExAC TOPMed gnomAD
CA170461294 rs760888509	1121	R>K		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	1121	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369995152 rs760888509	1121	R>T		No	ExAC TOPMed gnomAD ClinGen
rs1329465611 CA369995156	1122	K>E		No	TOPMed ClinGen
TCGA novel	1123	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA170461295 rs771099312	1123	E>Q		No	ClinGen ExAC gnomAD
CA170461297 rs759372336	1125	L>F		No	ExAC gnomAD ClinGen
rs764906986 CA170461298	1126	R>G		No	ClinGen ExAC gnomAD
rs151244583 CA170461299	1127	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA170461301 rs201552817	1128	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA369995198 rs149568987	1128	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149568987 CA170461302	1128	Q>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs757002569 CA170461304	1129	G>R		No	ExAC gnomAD ClinGen
CA170461303 rs757002569	1129	G>S		No	ClinGen ExAC gnomAD
rs186595396 CA170461628	1130	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA170461629 rs186595396	1130	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774472981 CA170461632	1131	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA369995233 rs1438113547	1132	F>C		No	gnomAD ClinGen
rs1172054343 CA369995240	1133	A>D		No	ClinGen TOPMed gnomAD
rs1172054343 CA369995239	1133	A>V		No	ClinGen TOPMed gnomAD
rs1563067447 CA369995248	1134	E>D		No	Ensembl ClinGen
CA369995271 rs138877703	1137	H>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA170461634 rs374634251	1137	H>Y		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170461636 rs747173840	1138	W>*		No	gnomAD ClinGen
CA369995274 rs1563067463	1138	W>G		No	ClinGen Ensembl
rs1024084039 CA170461638	1139	D>E		No	TOPMed ClinGen
TCGA novel	1140	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA170461640 rs760384319	1141	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760384319 CA170461639	1141	T>R		No	ClinGen ExAC TOPMed gnomAD
CA369995302 rs1332897897	1142	E>A		No	ClinGen gnomAD
rs1332897897 CA369995303	1142	E>G		No	ClinGen gnomAD
CA170461642 rs758741919	1143	E>D		No	ClinGen ExAC gnomAD
rs1332170054 CA369995315	1144	C>R		No	ClinGen gnomAD
CA170461643 rs138045217	1147	R>*		No	ESP ExAC TOPMed gnomAD ClinGen
CA170461644 rs906512545	1147	R>Q		No	ClinGen TOPMed gnomAD
rs1253678043 CA369995339	1148	L>F		No	gnomAD ClinGen
rs544182736 CA170461645	1148	L>P		No	1000Genomes ExAC gnomAD ClinGen
rs1230463394 CA369995344	1149	V>I		No	ClinGen gnomAD
rs750947451 CA170462581	1152	V>A		No	ExAC TOPMed gnomAD ClinGen
CA170462582 rs377289264	1155	T>N		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170462583 rs766370455	1156	K>*		No	ClinGen ExAC gnomAD
rs1488496077 CA369995409	1157	K>E		No	ClinGen gnomAD
rs1585945815 CA369995413	1157	K>R		No	ClinGen Ensembl
CA369995418 rs1259598365 COSM1097924	1158	E>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA170462587 rs189943831	1160	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA170462589 rs200806061	1162	K>N		No	ExAC TOPMed gnomAD ClinGen
CA170462591 rs375704519	1163	W>*		No	ClinGen ESP ExAC gnomAD
rs746926314 CA170462592	1164	L>F		No	ExAC TOPMed gnomAD ClinGen
rs375286437 CA170462594	1166	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs17854780 CA170462597 VAR_061320	1168	V>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs17854780 CA369995489	1168	V>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs769261730 CA170462596	1168	V>I		No	ExAC gnomAD ClinGen
CA170462598 rs748924733	1169	L>V		No	ExAC gnomAD ClinGen
CA170462599 rs772384034	1170	Y>H		No	ExAC gnomAD ClinGen
CA369995494 rs772384034	1170	Y>N		No	ExAC gnomAD ClinGen
CA369995503 rs1002059047	1171	E>A		No	ClinGen TOPMed gnomAD
rs773556533 CA170462600	1171	E>Q		No	ClinGen ExAC gnomAD
CA170462601 rs1002059047	1171	E>V		No	TOPMed gnomAD ClinGen
CA170462602 rs139807442	1172	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139807442 CA170462603	1172	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170462606 rs1045722624	1173	E>Q		No	ClinGen TOPMed gnomAD
CA369995528 rs1268774997	1175	L>R		No	gnomAD ClinGen
rs141579417 CA170462608	1176	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1192577471 CA369995531	1176	P>T		No	ClinGen gnomAD
TCGA novel	1179	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758582096 CA170462609	1179	E>K		No	ExAC gnomAD ClinGen
CA369995547 rs758582096	1179	E>Q		No	ClinGen ExAC gnomAD
rs1216965526 CA369995559	1180	R>S		No	TOPMed ClinGen
rs866977096 CA170462610	1181	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA369995570 rs1161694822	1182	I>T		No	ClinGen gnomAD
rs1021378223 CA170462612	1183	C>S		No	ClinGen Ensembl
CA170462614 rs769536664	1184	E>D		No	ExAC TOPMed gnomAD ClinGen
CA170462613 rs763811017	1184	E>G		No	ClinGen ExAC gnomAD
CA369995591 rs1294636093	1185	L>R		No	gnomAD ClinGen
TCGA novel	1187	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781147562 CA369995608	1188	P>L		No	ClinGen ExAC gnomAD
rs781147562 CA170462617	1188	P>R		No	ExAC gnomAD ClinGen
CA170462616 rs867625704	1188	P>S		No	Ensembl ClinGen
rs1021074572 CA170462667 COSM1623844	1190	L>F	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
rs146185694 CA170462668	1193	K>N		No	ClinGen ESP TOPMed
rs139740725 CA170462669	1194	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170462671 rs778663820	1195	H>Y		No	ClinGen ExAC gnomAD
CA170462673 rs771397137	1196	G>S		No	ExAC gnomAD ClinGen
CA369995681 rs1463732819	1197	E>D		No	TOPMed gnomAD ClinGen
rs1411763047 CA369995687	1198	Y>C		No	gnomAD ClinGen
rs761093890 CA170462674	1199	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1199	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA170462675 rs151084499	1200	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369995699 rs1354138564	1200	A>S		No	gnomAD ClinGen
CA170462676 rs934701145	1201	T>A		No	ClinGen TOPMed
rs770377385 CA369995704	1201	T>N		No	ExAC gnomAD ClinGen
rs934701145 CA369995702	1201	T>P		No	ClinGen TOPMed
rs770377385 CA170462677	1201	T>S		No	ExAC gnomAD ClinGen
CA369995708 rs1414019243	1202	L>W		No	ClinGen gnomAD
rs768596375 CA170462680	1204	D>G		No	ExAC gnomAD ClinGen
CA369995722 rs763133179	1204	D>H		No	ClinGen ExAC TOPMed gnomAD
CA369995724 rs768596375	1204	D>V		No	ExAC gnomAD ClinGen
CA170462679 rs763133179	1204	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs767302291 CA170462683	1205	D>E		No	ClinGen ExAC gnomAD
CA170462682 rs761936301	1205	D>H		No	ExAC gnomAD ClinGen
CA369995727 rs761936301	1205	D>N		No	ExAC gnomAD ClinGen
CA170462684 rs370898293	1206	R>G		No	ESP TOPMed gnomAD ClinGen
TCGA novel	1209	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760625314 CA170462686	1210	V>M		No	ClinGen ExAC gnomAD
rs754578437 CA170462689	1211	S>T		No	ExAC TOPMed gnomAD ClinGen
CA170462690 rs778287149	1211	S>Y		No	ClinGen ExAC gnomAD
CA170462692 rs758069225	1212	I>N		No	ExAC gnomAD ClinGen
CA170462693 rs758069225	1212	I>T		No	ExAC gnomAD ClinGen
TCGA novel	1213	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380116501 CA369995779	1213	L>R		No	ClinGen TOPMed
rs762645566 CA170462695	1213	L>V		No	Ensembl ClinGen
rs866470458 CA170462696	1214	E>K		No	gnomAD ClinGen
TCGA novel	1216	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369995798 rs1298630653	1216	A>V		No	gnomAD ClinGen
CA369995804 rs1269062226	1217	G>A		No	ClinGen gnomAD
CA170462699 rs780660466	1217	G>S		No	ExAC TOPMed gnomAD ClinGen
rs973307877 CA170462700	1218	K>E		No	Ensembl ClinGen
CA369995828 rs1393174476	1219	V>A		No	ClinGen gnomAD
rs1186975285 CA369995812	1219	V>M		No	ClinGen TOPMed
rs930254396 CA170462812	1220	Y>C		No	ClinGen gnomAD
CA369995831 rs1563072154	1220	Y>H		No	Ensembl ClinGen
TCGA novel	1220	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1446990127 CA369995839	1221	D>N		No	ClinGen gnomAD
rs756902489 CA170462815	1222	D>G		No	ExAC gnomAD ClinGen
CA369995858 rs1483045187	1223	M>I		No	TOPMed gnomAD ClinGen
CA170462816 rs766777961	1223	M>L		No	ClinGen ExAC TOPMed gnomAD
rs766777961 CA369995852	1223	M>V		No	ExAC TOPMed gnomAD ClinGen
rs368535466 CA170462817	1224	I>M		No	ESP ExAC TOPMed gnomAD ClinGen
CA369995873 rs1235735089	1226	A>T		No	gnomAD ClinGen
CA369995884 rs1196559637	1227	M>T		No	gnomAD ClinGen
CA369995880 rs1334257110	1227	M>V		No	gnomAD ClinGen
rs575044206 CA170462819	1228	S>C		No	ClinGen gnomAD
CA369995895 rs1436343874	1229	R>G		No	TOPMed gnomAD ClinGen
CA170462823 rs748628265	1229	R>I		No	ExAC TOPMed gnomAD ClinGen
CA369995899 rs1258051416	1229	R>S		No	ClinGen gnomAD
CA170462822 rs748628265	1229	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1174438147 CA369995900	1230	V>I		No	ClinGen TOPMed
CA369995910 rs1432918667	1231	C>S		No	TOPMed ClinGen
rs765602240	1232	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA170463803 rs760368046	1232	G>E		No	ClinGen ExAC gnomAD
CA170462824 rs777766795	1232	G>R		No	ClinGen ExAC gnomAD
rs1171295255 CA369995928	1233	K>E		No	ClinGen TOPMed
CA170463805 rs753013712	1233	K>N		No	ExAC gnomAD ClinGen
rs1172162308 CA369995938	1234	S>C		No	gnomAD ClinGen
CA170463806 rs200671811	1236	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1585958980 CA369995963	1239	K>E		No	ClinGen Ensembl
CA369995966 rs1326709733	1239	K>R		No	gnomAD ClinGen
rs1015938465 CA170463812	1240	V>I		No	ClinGen TOPMed gnomAD
rs756300104 CA369995982	1242	C>G		No	ClinGen ExAC TOPMed gnomAD
rs756300104 CA170463813	1242	C>R		No	ClinGen ExAC TOPMed gnomAD
rs147670971 CA170463816	1243	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA170463815 rs147670971	1243	T>N		No	ESP ExAC TOPMed gnomAD ClinGen
rs147670971 CA369995991	1243	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1241042397 CA369995993	1244	P>A		No	ClinGen gnomAD
CA170463818 rs754788372	1244	P>L		No	ClinGen ExAC gnomAD
CA170463820 rs748099104	1246	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs779038600 CA170463819	1246	G>R		No	ExAC gnomAD ClinGen
COSM276240 rs771545765 CA170463821	1248	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA170463822 CA369996032 rs974315632	1250	Q>H		No	gnomAD ClinGen
rs1303937343 CA369996026	1250	Q>K		No	ClinGen TOPMed
rs756646545 CA170463823	1251	C>G		No	gnomAD ClinGen
CA369996034 rs756646545	1251	C>S		No	gnomAD ClinGen
rs772724796 CA170463824	1251	C>Y		No	ClinGen ExAC gnomAD
rs770535431 CA170463826 CA369996044	1252	F>L		No	ExAC TOPMed gnomAD ClinGen
rs746666455 CA170463825	1252	F>S		No	ExAC gnomAD ClinGen
CA170463827 rs200015052	1253	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376914967 CA170463829 CA369996058	1254	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA170463828 rs997100480	1254	K>Q		No	TOPMed gnomAD ClinGen
CA369996063 rs1438896098	1255	Y>C		No	ClinGen gnomAD
CA170463830 rs764429520	1256	F>I		No	ExAC gnomAD ClinGen
CA170463831 rs113793171	1256	F>S		No	ClinGen Ensembl
rs774789499 CA170463832	1257	T>I		No	ExAC TOPMed gnomAD ClinGen
rs1191286273 CA369996075	1257	T>S		No	ClinGen TOPMed gnomAD
rs767506341 CA170463836	1259	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA170463838 COSM1097929 rs199864100 CA170463837	1260	M>I	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1406446284 CA369996094	1260	M>V		No	TOPMed ClinGen
CA170463839 rs766747743	1261	K>E		No	ExAC gnomAD ClinGen
CA369996104 rs1470573012	1261	K>T		No	ClinGen TOPMed
rs550899233 CA170463840	1262	V>A		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs550899233 CA369996111	1262	V>G		No	1000Genomes ExAC TOPMed gnomAD ClinGen
TCGA novel	1262	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369996107 rs1233888967	1262	V>M		No	TOPMed gnomAD ClinGen
CA170463842 rs754874269	1264	W>*		No	ExAC TOPMed gnomAD ClinGen
rs754874269 CA170463843	1264	W>C		No	ClinGen ExAC TOPMed gnomAD
rs748036308 CA170463844	1265	C>Y		No	ExAC gnomAD ClinGen
CA170463845 rs530793018	1266	H>N		No	ExAC TOPMed gnomAD ClinGen
CA170463846 rs530793018	1266	H>Y		No	ExAC TOPMed gnomAD ClinGen
rs143616905 CA170463847	1267	K>I		No	ESP ExAC TOPMed gnomAD ClinGen
CA170466400 rs765539231	1268	D>V		No	ClinGen ExAC TOPMed gnomAD
CA170466401 rs76960308	1270	K>E		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA170466402 rs762867862	1270	K>N		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	1271	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369988420 rs1390476540	1271	I>M		No	ClinGen gnomAD
CA369988426 rs1319884356	1272	S>A		No	TOPMed ClinGen
CA369988432 rs1210050942 COSM1489173	1272	S>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA369988443 rs1448432126	1273	S>F		No	gnomAD ClinGen
CA369988483 rs1242711766	1276	H>R		No	gnomAD ClinGen
CA369988491 rs1218166407	1277	M>V		No	TOPMed ClinGen
rs763794071 CA170466404	1278	R>I		No	ClinGen ExAC gnomAD
CA369988530 rs34620424	1279	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed
CA170466407 rs780703908	1280	G>E		No	ExAC TOPMed gnomAD ClinGen
rs757130433 CA170466406	1280	G>R		No	ClinGen ExAC TOPMed gnomAD
rs780703908 CA170466408	1280	G>V		No	ExAC TOPMed gnomAD ClinGen
rs1393049794 CA369988566	1282	S>R		No	gnomAD ClinGen
CA170466411 rs755545953	1282	S>R		No	ClinGen ExAC gnomAD
rs371983892 CA170466412	1283	E>K		No	ESP TOPMed ClinGen
rs779805082 CA369988580	1284	E>*		No	ClinGen ExAC TOPMed gnomAD
VAR_033619 CA170466414 rs34735757	1284	E>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs779805082 CA170466413	1284	E>K		No	ClinGen ExAC TOPMed gnomAD
CA170466415 rs772551245	1286	A>S		No	ExAC gnomAD ClinGen
CA369988630 rs1425940139	1287	W>S		No	ClinGen TOPMed
rs1319345725 CA369988646	1288	L>P		No	gnomAD ClinGen
CA170466419 rs777248944	1289	Q>*		No	ExAC gnomAD ClinGen
CA369988663 rs769752263	1289	Q>H		No	ClinGen ExAC gnomAD
CA170466420 rs759743356	1289	Q>R		No	ExAC TOPMed gnomAD ClinGen
CA170466422 rs775848474	1290	I>T		No	ExAC gnomAD ClinGen
rs1219119619 CA369988666	1290	I>V		No	ClinGen gnomAD
CA170466424 rs143646514	1291	C>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs950898267 CA170466423	1291	C>R		No	Ensembl ClinGen
CA170466425 rs747320493	1291	C>W		No	Ensembl ClinGen
CA369988687 rs1366222096	1292	E>K		No	ClinGen gnomAD
CA170466426 rs199969056	1293	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs10086990 CA170466428	1294	T>P		No	ClinGen Ensembl
rs1237569240 CA369988750	1296	K>N		No	TOPMed ClinGen
CA369988759 rs1585981682	1297	D>G		No	Ensembl ClinGen
rs926407525 CA170466432	1298	K>N		No	ClinGen TOPMed
CA170466431 rs767480292	1298	K>T		No	ExAC TOPMed gnomAD ClinGen
rs767839883 CA170466435	1300	K>*		No	ClinGen ExAC TOPMed gnomAD
CA369988794 rs542600210	1301	Y>H		No	ExAC TOPMed gnomAD ClinGen
CA170466437 rs542600210	1301	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs144413619 CA170466438	1302	T>A		No	ESP ExAC TOPMed gnomAD ClinGen
CA369988812 rs1563085399	1302	T>I		No	Ensembl ClinGen
rs144413619 CA369988806	1302	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA170466440 rs754526310	1303	F>S		No	ExAC TOPMed gnomAD ClinGen
CA369988837 rs1417887636	1304	E>D		No	ClinGen TOPMed
CA170466441 rs778302508	1304	E>Q		No	ClinGen ExAC gnomAD
rs1379951371 CA369988855	1306	F>L		No	ClinGen TOPMed
CA170466442 rs747421232	1306	F>S		No	ClinGen ExAC gnomAD
CA369988873 rs769921447	1307	D>E		No	ExAC TOPMed gnomAD ClinGen
rs746376922 CA170466445	1307	D>G		No	ClinGen ExAC TOPMed gnomAD
rs201508650 CA170466444	1307	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1335581848 CA369988875	1308	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA170466448 rs775374745	1308	G>V		No	ClinGen ExAC gnomAD
rs1182249401 CA369988885	1309	K>N		No	ClinGen gnomAD
rs768722773 CA170466450	1309	K>R		No	ClinGen ExAC TOPMed gnomAD
CA369988902 rs1352247579	1311	N>K		No	TOPMed ClinGen
rs142380219 CA170466453	1314	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs767285909 COSM1216489 CA170466454	1314	R>H	Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine meninges [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs767285909 CA170466455	1314	R>L		No	ExAC TOPMed gnomAD ClinGen
CA170466458 rs1039246771	1316	L>F		No	TOPMed ClinGen
rs568923144 CA369988939 CA170466459 COSM71769	1317	D>E	Variant assessed as Somatic; 0.0 impact. ovary [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1162237078 COSM1456000 CA369988938	1317	D>G	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs61733951 CA170466460	1318	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170466462 rs200538792	1319	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555367835 CA170466465	1320	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs746401680 CA170466466	1321	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs746401680 CA170466467	1321	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1363286315 CA369988998	1325	E>*		No	gnomAD ClinGen
rs1280365436 CA369989006	1326	A>E		No	gnomAD ClinGen
rs533067169 CA170466518	1326	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1303803529 CA369989019	1328	A>S		No	ClinGen gnomAD
rs1349794234 CA369989023	1329	E>K		No	gnomAD ClinGen
rs1230908889 CA369989035	1330	F>Y		No	gnomAD ClinGen
CA369989048 rs1157612630	1332	Q>K		No	TOPMed ClinGen
CA170466524 rs117478253	1333	F>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs751200182 CA369989065	1334	K>I		No	ClinGen ExAC TOPMed gnomAD
rs867015819 CA170466743	1334	K>N		No	Ensembl ClinGen
CA170466525 rs751200182	1334	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1563086508 CA369989410	1336	A>T		No	ClinGen Ensembl
rs368852120 CA170466746	1337	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs765770054 CA170466747	1339	A>V		No	ExAC gnomAD ClinGen
CA369989446 rs1563086524	1340	E>*		No	ClinGen Ensembl
rs758543224 CA170466751	1340	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1392722916 CA369989449	1340	E>G		No	TOPMed ClinGen
rs764170986 CA170466752	1341	K>*		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	1341	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1341	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1411540634 CA369989453	1341	K>R		No	ClinGen gnomAD
rs1286402890 CA369989459	1342	N>D		No	ClinGen gnomAD
rs763400998 CA369989473	1342	N>S		No	ExAC gnomAD ClinGen
rs763400998 CA170466939	1342	N>T		No	ExAC gnomAD ClinGen
CA170466940 COSM1699691 rs377200104	1343	R>C	skin [Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated
CA369989478 rs377200104	1343	R>G		No	ESP ExAC TOPMed gnomAD ClinGen
CA170466941 rs774701653 COSM144676	1343	R>H	prostate haematopoietic_and_lymphoid_tissue [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA369989477 rs377200104	1343	R>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs767699152 CA170466944	1345	R>S		No	ClinGen ExAC TOPMed gnomAD
rs762013463 CA170466942	1345	R>T		No	ExAC gnomAD ClinGen
rs766295188 CA369989507	1348	G>C		No	ExAC TOPMed gnomAD ClinGen
CA170466947 rs766295188	1348	G>S		No	ExAC TOPMed gnomAD ClinGen
rs201601749 CA170466949	1349	G>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1310999319 CA369989522	1350	L>F		No	ClinGen gnomAD
CA369989526 rs1563087431	1351	P>R		No	Ensembl ClinGen
rs778957991 CA170466950	1351	P>S		No	ExAC TOPMed gnomAD ClinGen
rs1268911833 CA369989529	1352	D>H		No	ClinGen gnomAD
rs752562809 CA170466954	1353	V>L		No	ExAC TOPMed gnomAD ClinGen
rs752562809 CA170466953	1353	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA369989557 rs1163592814	1356	I>M		No	ClinGen TOPMed
CA170466956 rs777209032	1356	I>V		No	ExAC gnomAD ClinGen
rs780795916 CA170466959	1357	M>I		No	ExAC gnomAD ClinGen
CA170466957 rs746688332	1357	M>L		No	ClinGen ExAC gnomAD
rs370365442 CA170466958	1357	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA170466960 rs770342817	1359	G>R		No	ExAC TOPMed gnomAD ClinGen
CA170466961 rs770342817	1359	G>W		No	ExAC TOPMed gnomAD ClinGen
rs1585986474 CA369989582	1360	K>N		No	ClinGen Ensembl
TCGA novel	1361	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA170467215 rs144741005	1362	L>F		No	ESP ExAC TOPMed gnomAD ClinGen
rs1224108021 CA369989610	1363	N>D		No	TOPMed ClinGen
rs776526426 CA170467216 COSM1292655	1365	T>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ExAC TOPMed ClinGen cosmic curated
rs776526426 CA369989624	1365	T>S		No	ClinGen ExAC TOPMed
rs368659851 CA170467217 COSM1569113	1367	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA170467220 rs948471387	1368	V>M		No	ClinGen Ensembl
CA369989683 rs1013214870	1370	G>A		No	ClinGen TOPMed
rs1013214870 CA170467222	1370	G>V		No	ClinGen TOPMed
CA369989689 rs1408548837	1371	N>D		No	ClinGen gnomAD
rs763876833 CA170467224	1371	N>I		No	ClinGen ExAC gnomAD
rs763876833 CA170467223	1371	N>S		No	ExAC gnomAD ClinGen
CA170467226 rs752676808	1372	P>A		No	ExAC gnomAD ClinGen
CA170467227 rs767074175	1373	D>E		No	ClinGen ExAC gnomAD
rs749857200 CA170467228	1374	P>R		No	ExAC gnomAD ClinGen
COSM1097934 CA170467230 rs765995800	1375	E>K	Variant assessed as Somatic; 0.0 impact. endometrium skin [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs745722590 COSM346927 CA170467231	1376	V>L	lung [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA369989762 rs1585988636	1377	I>V		No	ClinGen Ensembl
rs778214891 CA170467233	1378	W>C		No	ExAC gnomAD ClinGen
CA170467232 rs140277337	1378	W>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747542102 CA170467234	1380	K>E		No	ClinGen ExAC gnomAD
CA170467235 rs201486631	1380	K>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA170467236 rs925100228	1381	N>D		No	TOPMed ClinGen
CA170467238 rs145385079	1381	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369989828 rs769907128	1382	D>N		No	ExAC gnomAD ClinGen
CA170467239 rs769907128	1382	D>Y		No	ClinGen ExAC gnomAD
rs1392418150 CA369989846	1383	Q>*		No	ClinGen gnomAD
rs1011451873 CA170467240	1383	Q>H		No	ClinGen TOPMed gnomAD
CA369989842 rs1392418150	1383	Q>K		No	ClinGen gnomAD
CA369989850 COSM213672 rs1428335953	1383	Q>R	breast [Cosmic]	No	gnomAD ClinGen cosmic curated
CA170467241 rs768966873	1384	D>N		No	ExAC TOPMed gnomAD ClinGen
rs551294239 CA170467243	1385	I>F		No	ClinGen 1000Genomes ExAC gnomAD
CA170467245 rs201108083	1386	Q>*		No	gnomAD ClinGen
rs201108083 CA369989882	1386	Q>E		No	gnomAD ClinGen
rs1051732986 CA170467246	1387	L>H		No	TOPMed ClinGen
CA170467247 rs761767690	1388	S>R		No	ClinGen ExAC gnomAD
rs200160378 CA170467248	1388	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs997976118 CA170467250	1390	H>N		No	ClinGen gnomAD
CA170467251 rs760160487	1390	H>R		No	ClinGen ExAC TOPMed gnomAD
rs553419316 CA170467252 CA369989951	1391	F>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1314281511 CA369989945	1391	F>V		No	TOPMed ClinGen
CA170467253 rs367862562	1392	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs764585393 CA170467256	1393	V>E		No	ClinGen ExAC gnomAD
CA170467257 rs764585393	1393	V>G		No	ClinGen ExAC gnomAD
CA170467255 rs940947185	1393	V>L		No	TOPMed ClinGen
CA170467259 rs141655876	1395	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs141655876 CA170467258	1395	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA369990002 rs1448018163	1396	E>Q		No	ClinGen gnomAD
rs1301609095 CA369990015	1397	Q>E		No	TOPMed ClinGen
rs1424622457 CA369990020	1397	Q>P		No	TOPMed ClinGen
CA369990027 rs780053323	1398	A>G		No	ExAC TOPMed gnomAD ClinGen
CA170467261 rs756157254	1398	A>S		No	ClinGen ExAC TOPMed gnomAD
rs756157254 CA369990023	1398	A>T		No	ClinGen ExAC TOPMed gnomAD
CA170467262 rs780053323	1398	A>V		No	ExAC TOPMed gnomAD ClinGen
rs150511184 CA170467263	1399	K>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs768824081 CA170467264	1399	K>T		No	ClinGen ExAC TOPMed gnomAD
rs35586881 CA369990051	1400	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1488796175 CA369990054	1401	V>G		No	TOPMed ClinGen
CA170467266 rs781627298	1401	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA170467267 rs781627298	1401	V>L		No	ExAC TOPMed gnomAD ClinGen
CA170467271 COSM750113 rs776242410	1403	M>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA369990075 rs760592788	1403	M>L		No	ExAC gnomAD ClinGen
rs770360113 CA170467270	1403	M>R		No	ClinGen ExAC TOPMed gnomAD
rs770360113 CA369990083	1403	M>T		No	ExAC TOPMed gnomAD ClinGen
CA170467269 rs760592788	1403	M>V		No	ExAC gnomAD ClinGen
rs147501499 COSM144677 CA170467272	1404	T>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated
rs1295603917 CA369990093	1404	T>S		No	ClinGen TOPMed
rs765031150 CA170467273	1405	I>M		No	ExAC TOPMed gnomAD ClinGen
CA369990101 rs1230978161	1405	I>V		No	gnomAD ClinGen
CA369990111 rs1281829150	1406	K>E		No	ClinGen TOPMed
rs1435150075 CA369990113	1406	K>T		No	ClinGen gnomAD
rs755077047 CA170467276	1407	G>R		No	Ensembl ClinGen
rs750910050 CA170467279	1408	V>A		No	ExAC gnomAD ClinGen
CA170467278 rs199613705 COSM220178	1408	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1464210699 CA369990147	1409	T>I		No	ClinGen gnomAD
rs1585989024 CA369990149	1410	S>A		No	Ensembl ClinGen
CA170467282 rs140112046	1411	E>*		No	ESP ExAC TOPMed gnomAD ClinGen
CA170467281 rs140112046	1411	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA170467284 rs981567313	1412	D>G		No	ClinGen Ensembl
CA170467283 rs868775532	1412	D>N		No	ClinGen Ensembl
CA170467285 rs371261039	1413	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371261039 CA369990192	1413	S>W		No	ESP ExAC TOPMed gnomAD ClinGen
rs1563088735 CA369990196	1414	G>S		No	Ensembl ClinGen
rs779160306 CA170467286	1414	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1339814882 CA369990215	1415	K>M		No	TOPMed gnomAD ClinGen
CA170467288 rs758132832	1416	Y>*		No	ExAC TOPMed gnomAD ClinGen
CA369990230 rs1175427438	1417	S>G		No	ClinGen TOPMed
CA170467290 rs999385967	1417	S>I		No	TOPMed ClinGen
rs1453396029 CA369990241	1418	I>T		No	ClinGen gnomAD
rs1321021026 COSM162764 CA369990256	1420	I>M	breast [Cosmic]	No	TOPMed ClinGen cosmic curated
rs746940674 CA170467293	1420	I>V		No	ClinGen ExAC TOPMed gnomAD
rs147283014 CA170467295	1421	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA170467296 rs745429861	1422	N>S		No	ExAC gnomAD ClinGen
rs1233055581 CA369990266	1422	N>Y		No	ClinGen TOPMed
rs957884458 CA170467297	1423	K>N		No	TOPMed ClinGen
CA170467298 COSM1552173 rs769424689	1424	Y>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
TCGA novel	1425	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369990295 rs1266363929	1426	G>A		No	gnomAD ClinGen
CA170467299 rs775289426	1426	G>R		No	ExAC TOPMed gnomAD ClinGen
CA369990294 rs1266363929	1426	G>V		No	gnomAD ClinGen
CA170467300 rs762613691	1427	E>G		No	ExAC gnomAD ClinGen
CA369990304 rs1268765237	1428	K>E		No	gnomAD ClinGen
rs544873333 CA170467301	1429	I>N		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs558116342 CA170467304	1430	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1249735802 CA369990318	1430	D>H		No	ClinGen gnomAD
CA369990325 rs755117273	1431	V>L		No	ExAC TOPMed gnomAD ClinGen
CA170467306 rs755117273	1431	V>M		No	ExAC TOPMed gnomAD ClinGen
CA369990334 rs1404272951 COSM1739438	1432	T>I	NS [Cosmic]	No	TOPMed ClinGen cosmic curated
rs1371072430 CA369990340	1433	V>G		No	ClinGen gnomAD
rs1162766874 CA369990335	1433	V>M		No	gnomAD ClinGen
CA170467308 rs142248148	1434	S>R		No	ESP ExAC TOPMed gnomAD ClinGen
rs1183979116 CA369990345	1434	S>T		No	ClinGen gnomAD
rs777828427 CA369990350	1435	V>L		No	ExAC TOPMed gnomAD ClinGen
rs777828427 CA369990348 COSM1097935	1435	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA170467310 rs757106091	1436	Y>C		No	ClinGen ExAC gnomAD
rs781346127 CA170467311	1437	K>R		No	ExAC TOPMed gnomAD ClinGen
rs745736323 CA369990374	1438	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1459581344 CA369990376	1439	G>R		No	ClinGen TOPMed
rs933438428 CA170467314	1440	E>D		No	TOPMed ClinGen
CA170467313 rs769446900	1440	E>K		No	ExAC TOPMed gnomAD ClinGen
CA170467316 rs1052305612	1442	I>F		No	ClinGen Ensembl
rs1056380810 CA170467317	1442	I>T		No	Ensembl ClinGen
TCGA novel	1442	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA170467319 rs201286207	1443	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA170467318 rs920809750	1443	P>S		No	TOPMed ClinGen
TCGA novel	1444	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372065213 CA170467322	1445	M>T		No	ClinGen ESP gnomAD
rs768391399 CA170467321	1445	M>V		No	ClinGen ExAC gnomAD
rs151252256 CA170467324	1446	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151252256 CA170467323	1446	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA170467327 COSM1733837 rs369928532	1447	P>L	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1237303800	1447	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA170467326 rs376313294	1447	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA369990439 rs1401181137	1449	Q>H		No	TOPMed gnomAD ClinGen
CA170467329 rs765321637	1449	Q>K		No	ExAC gnomAD ClinGen
CA170467330 rs143512665	1450	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA170467331 rs762921458	1451	A>P		No	ExAC gnomAD ClinGen
CA369990452 rs1290204671	1451	A>V		No	gnomAD ClinGen
CA369990454 rs1304147659	1452	K>*		No	gnomAD ClinGen
CA369990462 rs1451482849	1453	P>A		No	gnomAD ClinGen
rs1366400598 CA369990474	1454	K>N		No	TOPMed gnomAD ClinGen
rs1229094834 CA369990477	1455	L>F		No	gnomAD ClinGen
CA170467336 rs999123254	1456	I>F		No	ClinGen TOPMed gnomAD
CA170467339 rs562106463	1458	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1458	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750413565 CA170467338	1458	A>T		No	ExAC TOPMed gnomAD ClinGen
rs562106463 COSM1456001 CA170467340	1458	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA369990500 rs1209158905	1459	S>C		No	gnomAD ClinGen
rs1287124718 COSM1666117 CA369990505	1460	A>V	eye [Cosmic]	No	ClinGen cosmic curated TOPMed
CA369990513 rs1357874833	1461	S>*		No	TOPMed ClinGen
rs1357874833 CA369990512	1461	S>L		No	ClinGen TOPMed
rs1473166863 CA369990508	1461	S>T		No	ClinGen gnomAD
COSM178315 CA170467345 rs778690685	1462	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA170467348 rs151115576	1463	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1418707082 CA369990524	1464	G>S		No	ClinGen gnomAD
CA170467349 rs760066909	1464	G>V		No	ExAC gnomAD ClinGen
CA369990530 rs1434573489	1465	Q>E		No	ClinGen gnomAD
CA170467351 rs775848657	1465	Q>H		No	ExAC ClinGen
CA369990541 rs1356939020 CA369990543	1466	Q>C		No	ClinGen gnomAD

No associated diseases with P54296

21 regional properties for P54296

Type	Name	Position	InterPro Accession
domain	Immunoglobulin subtype 2	170 - 236	IPR003598-1
domain	Immunoglobulin subtype 2	290 - 362	IPR003598-2
domain	Immunoglobulin subtype 2	1357 - 1425	IPR003598-3
domain	Immunoglobulin subtype	160 - 247	IPR003599-1
domain	Immunoglobulin subtype	284 - 373	IPR003599-2
domain	Immunoglobulin subtype	913 - 999	IPR003599-3
domain	Immunoglobulin subtype	1135 - 1215	IPR003599-4
domain	Immunoglobulin subtype	1351 - 1436	IPR003599-5
domain	Fibronectin type III	383 - 480	IPR003961-1
domain	Fibronectin type III	511 - 608	IPR003961-2
domain	Fibronectin type III	612 - 707	IPR003961-3
domain	Fibronectin type III	710 - 812	IPR003961-4
domain	Fibronectin type III	813 - 912	IPR003961-5
domain	Immunoglobulin-like domain	154 - 245	IPR007110-1
domain	Immunoglobulin-like domain	266 - 354	IPR007110-2
domain	Immunoglobulin-like domain	904 - 1002	IPR007110-3
domain	Immunoglobulin-like domain	1130 - 1211	IPR007110-4
domain	Immunoglobulin-like domain	1358 - 1434	IPR007110-5
domain	Immunoglobulin I-set	154 - 246	IPR013098-1
domain	Immunoglobulin I-set	289 - 372	IPR013098-2
domain	Immunoglobulin I-set	1351 - 1435	IPR013098-3

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, myofibril, sarcomere, M line
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
M band	The midline of aligned thick filaments in a sarcomere; location of specific proteins that link thick filaments. Depending on muscle type the M band consists of different numbers of M lines.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
myosin filament	A supramolecular fiber containing myosin heavy chains, plus associated light chains and other proteins, in which the myosin heavy chains are arranged into a filament.

3 GO annotations of molecular function

Name	Definition
actin filament binding	Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
kinase binding	Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group.
structural constituent of muscle	The action of a molecule that contributes to the structural integrity of a muscle fiber.

2 GO annotations of biological process

Name	Definition
muscle contraction	A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis.
sarcomere organization	The myofibril assembly process that results in the organization of muscle actomyosin into sarcomeres. The sarcomere is the repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q14324	MYBPC2	Myosin-binding protein C, fast-type	Homo sapiens (Human)	PR

10	20	30	40	50	60
MSLVTVPFYQ	KRHRHFDQSY	RNIQTRYLLD	EYASKKRAST	QASSQKSLSQ	RSSSQRASSQ
70	80	90	100	110	120
TSLGGTICRV	CAKRVSTQED	EEQENRSRYQ	SLVAAYGEAK	RQRFLSELAH	LEEDVHLARS
130	140	150	160	170	180
QARDKLDKYA	IQQMMEDKLA	WERHTFEERI	SRAPEILVRL	RSHTVWERMS	VKLCFTVQGF
190	200	210	220	230	240
PTPVVQWYKD	GSLICQAAEP	GKYRIESNYG	VHTLEINRAD	FDDTATYSAV	ATNAHGQVST
250	260	270	280	290	300
NAAVVVRRFR	GDEEPFRSVG	LPIGLPLSSM	IPYTHFDVQF	LEKFGVTFRR	EGETVTLKCT
310	320	330	340	350	360
MLVTPDLKRV	QPRAEWYRDD	VLLKESKWTK	MFFGEGQASL	SFSHLHKDDE	GLYTLRIVSR
370	380	390	400	410	420
GGVSDHSAFL	FVRDADPLVT	GAPGAPMDLQ	CHDANRDYVI	VTWKPPNTTT	ESPVMGYFVD
430	440	450	460	470	480
RCEVGTNNWV	QCNDAPVKIC	KYPVTGLFEG	RSYIFRVRAV	NSAGISRPSR	VSDAVAALDP
490	500	510	520	530	540
LDLRRLQAVH	LEGEKEIAIY	QDDLEGDAQV	PGPPTGVHAS	EISRNYVVLS	WEPPTPRGKD
550	560	570	580	590	600
PLMYFIEKSV	VGSGSWQRVN	AQTAVRSPRY	AVFDLMEGKS	YVFRVLSANR	HGLSEPSEIT
610	620	630	640	650	660
SPIQAQDVTV	VPSAPGRVLA	SRNTKTSVVV	QWDRPKHEED	LLGYYVDCCV	AGTNLWEPCN
670	680	690	700	710	720
HKPIGYNRFV	VHGLTTGEQY	IFRVKAVNAV	GMSENSQESD	VIKVQAALTV	PSHPYGITLL
730	740	750	760	770	780
NCDGHSMTLG	WKVPKFSGGS	PILGYYLDKR	EVHHKNWHEV	NSSPSKPTIL	TVDGLTEGSL
790	800	810	820	830	840
YEFKIAAVNL	AGIGEPSDPS	EHFKCEAWTM	PEPGPAYDLT	FCEVRDTSLV	MLWKAPVYSG
850	860	870	880	890	900
SSPVSGYFVD	FREEDAGEWI	TVNQTTTASR	YLKVSDLQQG	KTYVFRVRAV	NANGVGKPSD
910	920	930	940	950	960
TSEPVLVEAR	PGTKEISAGV	DEQGNIYLGF	DCQEMTDASQ	FTWCKSYEEI	SDDERFKIET
970	980	990	1000	1010	1020
VGDHSKLYLK	NPDKEDLGTY	SVSVSDTDGV	SSSFVLDPEE	LERLMALSNE	IKNPTIPLKS
1030	1040	1050	1060	1070	1080
ELAYEIFDKG	RVRFWLQAEH	LSPDASYRFI	INDREVSDSE	IHRIKCDKAT	GIIEMVMDRF
1090	1100	1110	1120	1130	1140
SIENEGTYTV	QIHDGKAKSQ	SSLVLIGDAF	KTVLEEAEFQ	RKEFLRKQGP	HFAEYLHWDV
1150	1160	1170	1180	1190	1200
TEECEVRLVC	KVANTKKETV	FKWLKDDVLY	ETETLPNLER	GICELLIPKL	SKKDHGEYKA
1210	1220	1230	1240	1250	1260
TLKDDRGQDV	SILEIAGKVY	DDMILAMSRV	CGKSASPLKV	LCTPEGIRLQ	CFMKYFTDEM
1270	1280	1290	1300	1310	1320
KVNWCHKDAK	ISSSEHMRIG	GSEEMAWLQI	CEPTEKDKGK	YTFEIFDGKD	NHQRSLDLSG
1330	1340	1350	1360	1370	1380
QAFDEAFAEF	QQFKAAAFAE	KNRGRLIGGL	PDVVTIMEGK	TLNLTCTVFG	NPDPEVIWFK
1390	1400	1410	1420	1430	1440
NDQDIQLSEH	FSVKVEQAKY	VSMTIKGVTS	EDSGKYSINI	KNKYGGEKID	VTVSVYKHGE
1450	1460
KIPDMAPPQQ	AKPKLIPASA	SAAGQ