AiPD: Autoinhibited Protein Database

P23468

Gene name	PTPRD
Protein name	Receptor-type tyrosine-protein phosphatase delta
Names	Protein-tyrosine phosphatase delta, R-PTP-delta
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5789
EC number	3.1.3.48: Phosphoric monoester hydrolases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1266-1340 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1266-1340 (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

9 structures for P23468

Entry ID	Method	Resolution	Chain	Position	Source
1X5Z	NMR	-	A	506-607	PDB
2DLH	NMR	-	A	407-514	PDB
2YD6	X-ray	135 A	A	21-226	PDB
2YD7	X-ray	198 A	A/B	21-226	PDB
4RCA	X-ray	299 A	A	21-322	PDB
5WY8	X-ray	307 A	A	21-318	PDB
5XNP	X-ray	373 A	D/E	21-320	PDB
6X3A	X-ray	177 A	A	607-916	PDB
AF-P23468-F1	Predicted				AlphaFoldDB

1689 variants for P23468

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001281520 rs888423638 CA188818863	1360	E>K	Intellectual disability [ClinVar]	Yes	TOPMed ClinGen ClinVar dbSNP
COSM456123 rs150063446 COSM1178759 COSM1178758 RCV000149336 CA174809	1898	R>C	Malignant tumor of prostate Variant assessed as Somatic; 0.0 impact. endometrium prostate breast [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1598295447 CA372923071	2	V>G		No	Ensembl ClinGen
rs1565650738 CA372923076	2	V>M		No	ClinGen Ensembl
rs767924782 CA4985063	3	H>R		No	ClinGen ExAC TOPMed gnomAD
CA372923068 rs1485000368	3	H>Y		No	ClinGen gnomAD
rs114777847 CA4985062	4	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs114777847 CA4985061 RCV000967115	4	V>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM3395905 COSM3395903 rs1050031711 CA189134954 COSM3395901 COSM3395902 COSM3395904	4	V>I	pancreas [Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated
rs1325073264 CA372923044	7	L>P		No	TOPMed ClinGen
CA372923040 rs1397336874	8	L>P		No	ClinGen gnomAD
rs940459920 CA189134951	11	L>I		No	ClinGen TOPMed gnomAD
rs940459920 CA372923027	11	L>V		No	ClinGen TOPMed gnomAD
rs1395769745 CA372923018	12	L>H		No	gnomAD ClinGen
rs1431806681 CA372923020	12	L>V		No	ClinGen TOPMed
CA372923003 CA372923002 rs1163343631	14	F>L		No	TOPMed gnomAD ClinGen
CA372923008 rs1391329564	14	F>L		No	gnomAD ClinGen
rs1369593798 CA372922989	16	L>P		No	ClinGen gnomAD
CA4985054 rs138127948	17	R>C		No	ESP ExAC TOPMed gnomAD ClinGen
CA372922984 COSM180123 rs949202374	17	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA189134949 rs949202374	17	R>L		No	TOPMed gnomAD ClinGen
rs376714429 COSM180122 CA4985053	18	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs199621346 CA372922974	19	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1249636201 CA372922978	19	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs199621346 CA4985052	19	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA372922959 rs1355550277	21	E>D		No	gnomAD ClinGen
CA372916403 rs1251077945	22	T>R		No	gnomAD ClinGen
rs1483760786 CA372916396	23	P>L		No	gnomAD ClinGen
TCGA novel	24	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372916384 rs1199542975	25	R>S		No	gnomAD ClinGen
rs768367170 CA4985031	26	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA372916380 rs1276939328	26	F>Y		No	ClinGen gnomAD
rs1350395406 CA372916374	27	T>A		No	gnomAD ClinGen
CA188850194 rs199568955	27	T>K		No	ClinGen 1000Genomes
CA372916367 rs1353675904 VAR_035645 COSM33637	28	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine a colorectal cancer sample; somatic mutation [NCI-TCGA, Cosmic, UniProt]	No	ClinGen cosmic curated UniProt NCI-TCGA TOPMed dbSNP gnomAD
CA372916358 rs1333698456	30	P>A		No	ClinGen gnomAD
CA4985026 rs369741244	30	P>L		No	ESP ExAC gnomAD ClinGen
CA372916351 rs1174104266	31	V>A		No	gnomAD ClinGen
CA4985025 rs146973770	31	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs770685926 CA4985024	33	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA372916330 rs149272663	34	T>I		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs149272663 CA4985023	34	T>R		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA372916324 rs1182822834	35	G>V		No	gnomAD ClinGen
TCGA novel	36	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200368919 CA4985021	36	V>I		No	ExAC gnomAD ClinGen
CA4985022 rs200368919	36	V>L		No	ExAC gnomAD ClinGen
rs1378467412 CA372916295	41	A>T		No	ClinGen TOPMed gnomAD
rs766465721 CA4985016	41	A>V		No	ExAC TOPMed gnomAD ClinGen
rs1595792685 CA372916281	43	F>Y		No	ClinGen Ensembl
CA4985013 rs762640935	44	I>N		No	ClinGen ExAC TOPMed gnomAD
CA4985012 rs762640935	44	I>T		No	ClinGen ExAC TOPMed gnomAD
CA188850177 rs998210883 COSM1463326 COSM1463327 COSM1463328	44	I>V	large_intestine [Cosmic]	No	TOPMed ClinGen cosmic curated
rs775423272 CA4985011	46	Q>R		No	ClinGen ExAC gnomAD
CA4985009 rs759595580	48	T>A		No	ExAC gnomAD ClinGen
CA4985008 rs776233840	48	T>M		No	ExAC TOPMed gnomAD ClinGen
CA4985010 rs759595580	48	T>S		No	ExAC gnomAD ClinGen
rs1318804406 CA372916235	50	D>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs140692065 CA4985006	51	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4985005 rs144202170	52	R>G		No	1000Genomes ExAC gnomAD ClinGen
CA372916228 rs1159690583	52	R>K		No	ClinGen gnomAD
CA188850167 rs368458288	55	I>T		No	ESP TOPMed gnomAD ClinGen
CA4985004 rs771818096	56	V>F		No	ExAC TOPMed gnomAD ClinGen
CA372916189 rs1162110652	58	N>H		No	gnomAD ClinGen
rs724159852 CA372916161	61	G>A		No	TOPMed ClinGen
COSM142712 CA188850165 rs724159852	61	G>E	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	TOPMed ClinGen cosmic curated NCI-TCGA
TCGA novel	61	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748426647 CA4985003	64	V>L		No	ClinGen ExAC gnomAD
rs1238777751 TCGA novel CA372916132	65	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	gnomAD NCI-TCGA ClinGen
CA372916127 rs1265153935	66	N>S		No	ClinGen TOPMed
TCGA novel CA372916117 rs1431532326	67	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
CA372916119 rs1186315313	67	Q>R		No	gnomAD ClinGen
rs1249012599 CA372916105	69	F>Y		No	gnomAD ClinGen
TCGA novel	70	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1356394001 CA372915545	72	I>T		No	ClinGen TOPMed gnomAD
rs74945428 CA4984982	73	E>D		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs780525885 CA4984980	74	F>S		No	ExAC gnomAD ClinGen
rs373420151 CA372915489	75	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs756679162 CA4984979	75	D>G		No	ClinGen ExAC TOPMed gnomAD
COSM1145447 COSM1145448 CA4984977 COSM609509 rs745977244 COSM1650913	76	D>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs745977244 CA372915486	76	D>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	77	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1431767316 CA372915452	78	S>C		No	gnomAD ClinGen
CA372915440 rs1483006238	80	S>T		No	TOPMed ClinGen
CA372915430 rs1179469417	81	V>L		No	TOPMed ClinGen
rs776040231 CA188849435	82	L>F		No	ClinGen gnomAD
TCGA novel	82	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs529659376 CA4984974	84	I>L		No	1000Genomes ExAC gnomAD ClinGen
CA188849433 rs111386968	84	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
rs146848707 CA4984972	86	P>S		No	ClinGen ESP ExAC gnomAD
CA4984971 rs766417842	87	L>V		No	ExAC ClinGen
CA372915288 rs1564855576	88	R>W		No	ClinGen Ensembl
CA372915274 rs1208308933	89	T>I		No	gnomAD ClinGen
CA4984970 rs760713741	90	P>L		No	ExAC TOPMed gnomAD ClinGen
rs749851220 CA4984969	93	E>K		No	ClinGen ExAC gnomAD
CA372915179 rs377311239	94	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs377311239 CA4984968	94	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs761302617 CA372915165	95	I>L		No	ClinGen ExAC TOPMed gnomAD
CA4984966 rs774004202	95	I>T		No	ClinGen ExAC gnomAD
CA4984967 rs761302617	95	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1299480219 CA372915114	97	E>D		No	gnomAD ClinGen
rs768353460 CA4984965	97	E>K		No	ClinGen ExAC gnomAD
rs200499691 CA4984964	100	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA4984963 rs775872251	100	A>V		No	ClinGen ExAC gnomAD
CA188849423 rs1013719975	102	N>Y		No	TOPMed ClinGen
COSM1700943 COSM1700945 COSM1700942 COSM1700944 rs959497940 CA188849421	105	G>R	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA372914988 rs1427738975	107	I>M		No	ClinGen TOPMed
CA372914984 rs1182127602	108	S>G		No	gnomAD ClinGen
rs373181595 CA188849420	108	S>N		No	ClinGen ESP TOPMed gnomAD
rs373181595 CA188849419	108	S>T		No	ClinGen ESP TOPMed gnomAD
CA372914973 rs1396855741	109	V>I		No	TOPMed ClinGen
rs1595727732 CA372914937	113	L>I		No	ClinGen Ensembl
CA4984960 rs781093434	114	T>A		No	ExAC TOPMed gnomAD ClinGen
CA188849417 rs952642152	114	T>K		No	ClinGen Ensembl
CA4984959 rs771049384	116	L>W		No	ExAC gnomAD ClinGen
rs778130827 CA4984957	117	R>L		No	ExAC TOPMed gnomAD ClinGen
rs778130827 CA372914914	117	R>P		No	ExAC TOPMed gnomAD ClinGen
rs778130827 CA4984958	117	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA188849415 COSM3413781 COSM3413784 COSM3413783 COSM3413782 rs866980874 COSM3413780	117	R>W	central_nervous_system [Cosmic]	No	ClinGen cosmic curated Ensembl
rs760791964 CA188822614	118	E>A		No	ClinGen Ensembl
rs763617561 CA4984931	119	D>N		No	ExAC gnomAD ClinGen
CA372909781 rs758007107	120	Q>*		No	ClinGen ExAC gnomAD
CA4984930 rs758007107	120	Q>E		No	ClinGen ExAC gnomAD
rs752353348 CA4984929	122	P>L		No	ExAC gnomAD ClinGen
COSM1598497 CA372909767 rs1279233089 COSM1598498 COSM1110553	122	P>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA372909763 rs1264182906	123	R>G		No	gnomAD ClinGen
CA372909753 rs1371428038	124	G>A		No	ClinGen TOPMed
CA188822592 rs750992182	125	F>L		No	TOPMed gnomAD ClinGen
CA188822591 rs1022794628	127	T>A		No	TOPMed gnomAD ClinGen
rs765464134 CA4984928	127	T>N		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	128	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1014094658 CA188822587	128	I>V		No	ClinGen Ensembl
TCGA novel	129	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372909695 rs1220832958	130	M>V		No	TOPMed ClinGen
CA372909680 rs1277243866	131	G>S		No	TOPMed ClinGen
rs776929537 CA4984926	131	G>V		No	ClinGen ExAC gnomAD
TCGA novel	132	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773381863 CA4984923	137	V>I		No	ExAC gnomAD ClinGen
CA4984922 rs772278559	139	R>C	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA188822570 COSM1222617 rs895525091 COSM1222616 COSM1222618	139	R>H	large_intestine [Cosmic]	No	gnomAD ClinGen cosmic curated
TCGA novel	140	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372909574 rs1592850704	140	T>P		No	Ensembl ClinGen
CA372909566 rs1335905778	140	T>S		No	ClinGen gnomAD
CA4984920 rs774617096	141	R>C		No	ClinGen ExAC gnomAD
COSM1598500 COSM1598499 rs768826930 COSM1110551 CA4984919	141	R>H	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
COSM1110549 CA4984918 COSM1598502 rs545049137 COSM1598501	142	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA372909555 rs1592850455	142	T>P		No	ClinGen Ensembl
CA372909548 rs1370111525	143	A>T		No	gnomAD ClinGen
rs757168352 CA4984916	144	T>S		No	ClinGen ExAC
TCGA novel	147	C>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4984914 rs777198770	148	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4984913 rs143793113	149	A>S		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	150	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149175517 CA4984912	150	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA372909437 rs1269604232	154	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	155	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372909414 rs754630616	156	E>K		No	ExAC gnomAD ClinGen
CA4984910 rs754630616	156	E>Q		No	ExAC gnomAD ClinGen
CA372909400 rs1273402167	157	I>T		No	ClinGen gnomAD
CA372909386 rs1564092193	158	T>S		No	ClinGen Ensembl
rs1341084533 CA372909364	160	F>C		No	gnomAD ClinGen
CA4984908 rs766681460	161	K>R		No	ClinGen ExAC gnomAD
rs1233052240 CA372909300	165	P>L		No	ClinGen gnomAD
CA372909289 rs1326592841	166	V>A		No	TOPMed ClinGen
CA372909298 rs1332170873	166	V>M		No	gnomAD ClinGen
CA372909278 rs1353046327	167	D>E		No	TOPMed ClinGen
rs1285772951 CA372909266	169	S>G		No	ClinGen gnomAD
rs1308759522 CA372909233	171	N>S		No	ClinGen gnomAD
rs1400408594 CA372909218	172	N>S		No	gnomAD ClinGen
CA4984904 rs201846121	174	R>H		No	1000Genomes ExAC gnomAD ClinGen
rs1592812938 CA372908238	181	E>D		No	ClinGen Ensembl
rs768702119 CA4984850	183	I>V		No	ClinGen ExAC TOPMed gnomAD
CA372908139 rs1592791956	186	T>R		No	ClinGen Ensembl
TCGA novel	190	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	190	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1226656890 CA372907687	193	Q>K		No	ClinGen gnomAD
CA372907668 rs1335342823	194	I>T		No	ClinGen gnomAD
rs1184409919 CA372907659	195	E>G		No	ClinGen TOPMed
rs528492752 CA372907662	195	E>K		No	TOPMed ClinGen
rs528492752 CA188820613	195	E>Q		No	TOPMed ClinGen
COSM3848942 rs1329822805 CA372907647	196	Q>*	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA372907635 rs1391719878	197	S>I		No	ClinGen gnomAD
CA4984766 rs755624211	200	S>A		No	ExAC gnomAD ClinGen
rs749971803 CA4984765	208	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	210	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767146958 CA4984764	210	T>I		No	ExAC gnomAD ClinGen
rs767146958 CA372907525	210	T>S		No	ExAC gnomAD ClinGen
CA4984763 rs761470875	211	N>H		No	ClinGen ExAC gnomAD
CA372907487 rs764474694	213	A>E		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	213	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4984761 rs764474694	213	A>V		No	ExAC TOPMed gnomAD ClinGen
CA372907469 rs1203493671	215	T>S		No	gnomAD ClinGen
rs1462108267 CA372907460	216	R>C		No	ClinGen TOPMed gnomAD
CA4984759 rs776042694	216	R>H		No	ClinGen ExAC TOPMed gnomAD
rs770243660 CA4984758	217	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs771217760 CA4984756	219	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs771217760 CA4984755	219	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA4984754 rs567730036	220	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4984752 rs754839382	221	A>D		No	ExAC gnomAD ClinGen
rs370014994 CA4984750	222	N>S		No	ESP ExAC gnomAD ClinGen
rs868728165 CA188818358	232	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
rs573451654 CA188818357	235	P>A		No	1000Genomes gnomAD ClinGen
rs1212993140 CA372907069	235	P>L		No	ClinGen gnomAD
TCGA novel	235	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	236	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1038585660 CA372907048	238	F>L		No	ClinGen TOPMed
CA188818347 rs374356442	240	I>V		No	ClinGen ESP TOPMed gnomAD
rs748982864 CA4984667	241	P>L		No	ExAC TOPMed gnomAD ClinGen
CA4984666 rs139719908	242	P>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs1193937945 CA372907024	243	T>A		No	ClinGen TOPMed
rs555533240 CA4984665	243	T>I		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	243	T>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4984663 rs781546140	244	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1264786026 CA372907004	246	E>Q		No	ClinGen TOPMed
rs371571276 CA4984661	247	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs988387399 CA188818312	248	M>L		No	TOPMed gnomAD ClinGen
CA372906991 rs988387399	248	M>V		No	TOPMed gnomAD ClinGen
CA188818310 rs757769960	249	P>A		No	ClinGen TOPMed
CA372906982 rs757769960	249	P>S		No	ClinGen TOPMed
rs752937985 CA4984658	251	G>E		No	ExAC gnomAD ClinGen
CA4984659 rs758577045	251	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs765489687 CA188818303	252	S>R		No	ExAC TOPMed gnomAD ClinGen
CA4984656 rs760428875	253	V>I		No	ExAC TOPMed gnomAD ClinGen
rs1470492346 CA372906951	254	N>I		No	TOPMed ClinGen
rs1470492346 COSM394376 CA372906952	254	N>S	lung [Cosmic]	No	TOPMed ClinGen cosmic curated
rs1479882033 CA372906947	255	I>V		No	ClinGen gnomAD
rs773122478 CA4984655	256	T>S		No	ClinGen ExAC gnomAD
COSM1700927 rs767340559 COSM1700928 CA4984654 COSM1700929	259	A>V	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA188818274 rs1029800385	260	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs768306792 CA4984651	267	V>L		No	ExAC gnomAD ClinGen
TCGA novel	269	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs534181824 CA188818269	270	M>V		No	ClinGen Ensembl
CA188818256 rs141255147	271	L>V		No	ESP TOPMed gnomAD ClinGen
CA372906827 rs746204840	273	A>E		No	ExAC gnomAD ClinGen
COSM1235140 rs769639520 COSM1235139 CA4984648 COSM1235141	273	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4984647 rs746204840	273	A>V		No	ExAC gnomAD ClinGen
rs1466073135 CA372906819	274	E>D		No	gnomAD ClinGen
CA188818210 rs541120953	274	E>G		No	ClinGen Ensembl
VAR_035646	276	L>P	a colorectal cancer sample; somatic mutation [UniProt]	No	UniProt
CA4984645 rs771275626	278	P>S		No	ClinGen ExAC gnomAD
rs779448321 CA188818192	280	D>G		No	Ensembl ClinGen
rs1479839079 CA372906755	284	I>V		No	ClinGen gnomAD
CA4984643 rs777779009	285	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs752811375 CA4984641	286	R>S		No	ClinGen ExAC gnomAD
rs755280775 CA4984639	288	V>M		No	ClinGen ExAC gnomAD
rs1292967701 CA372906717	290	E>A		No	ClinGen TOPMed gnomAD
CA188818147 rs966706082	293	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA188818142 rs1020627718	293	D>V		No	Ensembl ClinGen
rs966706082 CA372906694	293	D>Y		No	ClinGen TOPMed gnomAD
CA188818140 rs200703886	295	R>G		No	ClinGen Ensembl
rs148229570 CA4984635	297	S>A		No	ESP ExAC ClinGen
rs1262528618 CA372906631	299	N>D		No	ClinGen TOPMed
TCGA novel	300	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs188344530 CA4984633	303	V>A		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	304	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1335469081 CA372906558	305	M>V		No	gnomAD ClinGen
CA372906527 rs1305944530	307	T>I		No	gnomAD ClinGen
CA4984632 rs775198633	308	L>V		No	ClinGen ExAC TOPMed gnomAD
rs776820755 CA4984629	311	I>T		No	ExAC gnomAD ClinGen
CA372906475 rs1402265609	313	A>T		No	TOPMed gnomAD ClinGen
rs771347752 CA4984628	314	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1173876390 CA372906463	314	I>V		No	ClinGen TOPMed gnomAD
rs377587088 CA4984627	315	A>V		No	ClinGen ESP ExAC gnomAD
rs1018094149 CA188818073	318	T>S		No	ClinGen Ensembl
rs1006660472 CA188818068	320	K>E		No	ClinGen TOPMed gnomAD
CA4984626 rs778219193	320	K>R		No	ClinGen ExAC TOPMed gnomAD
CA188816532 rs995119754	321	A>V		No	Ensembl ClinGen
CA372906096 rs1296307100	325	P>R		No	TOPMed ClinGen
CA372906081 rs1353039582	327	G>R		No	ClinGen gnomAD
rs777715214 CA372906064	328	T>I		No	ExAC gnomAD ClinGen
CA4984600 rs777715214	328	T>N		No	ExAC gnomAD ClinGen
CA372906025 rs1424413919	333	E>K		No	TOPMed gnomAD ClinGen
CA372906008 rs1196017740	334	S>C		No	gnomAD ClinGen
CA372905991 rs1204402487	335	T>R		No	ClinGen TOPMed
CA4984598 rs752703555	336	A>G		No	ClinGen ExAC gnomAD
TCGA novel	338	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	340	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1490178 CA4984596 COSM1490177 COSM456152 rs754478667	342	T>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs754478667 CA372905921	342	T>R		No	ClinGen ExAC TOPMed gnomAD
CA4984593 rs760330491	346	G>A		No	ExAC gnomAD ClinGen
CA372905892 rs1592584765	346	G>R		No	ClinGen Ensembl
rs1436808095 CA372905878	348	P>A		No	ClinGen gnomAD
rs773495583 CA4984592	348	P>R		No	ExAC gnomAD ClinGen
CA372905880 rs1436808095	348	P>S		No	ClinGen gnomAD
CA372905866 rs374442437	350	P>A		No	ESP ExAC TOPMed gnomAD ClinGen
CA4984591 rs374442437	350	P>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs1592584303 CA372905861	351	V>L		No	ClinGen Ensembl
CA372905826 rs1465556841	356	I>V		No	ClinGen gnomAD
rs1172832617 CA372905807	358	H>L		No	ClinGen gnomAD
CA372905805 rs1479508576	358	H>Q		No	ClinGen gnomAD
CA4984590 rs762218066	358	H>Y		No	ClinGen ExAC gnomAD
CA372905791 rs1428808899	360	P>L		No	gnomAD ClinGen
rs1377147377 CA372905795	360	P>T		No	ClinGen TOPMed
rs895913755 CA188816490	361	K>I		No	ClinGen Ensembl
TCGA novel	363	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774811026 CA4984589	364	E>G		No	ClinGen ExAC gnomAD
COSM1263454 COSM1263453 rs769113252 COSM1263455 CA4984588	365	E>D	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM1700919 CA188816477 COSM1700917 COSM1700918 rs868403321	365	E>K	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs775448123 CA4984586	371	D>G		No	ClinGen ExAC gnomAD
rs1254780338 COSM322910 CA372905717	371	D>N	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs746124968 CA4984584	374	A>T		No	ClinGen ExAC gnomAD
COSM241312 rs556357771 CA4984583	374	A>V	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA188816460 rs934760441	375	T>A		No	ClinGen Ensembl
rs1480179227 CA372905686	376	T>I		No	ClinGen gnomAD
COSM1598510 COSM1598509 COSM1110537 CA4984580 rs371051836	377	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
TCGA novel	377	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372905672 rs1446086526	379	S>R		No	ClinGen TOPMed
rs1340126992 CA372905638	384	S>N		No	TOPMed ClinGen
TCGA novel	384	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780599863 CA4984576	386	Y>C		No	ClinGen ExAC gnomAD
rs765808310 CA4984577	386	Y>H		No	ExAC gnomAD ClinGen
rs780599863 CA188816446	386	Y>S		No	ClinGen ExAC gnomAD
rs750058892 CA4984575	387	S>L		No	ExAC TOPMed gnomAD ClinGen
rs368577359 CA4984573	388	D>Y		No	ESP ExAC TOPMed gnomAD ClinGen
rs1176950663 CA372905607	389	Y>C		No	ClinGen gnomAD
rs1416377465 CA372905601	390	E>Q		No	gnomAD ClinGen
rs774640196 CA372905587	391	F>L		No	ExAC TOPMed gnomAD ClinGen
CA372905590 rs1302102538	391	F>S		No	gnomAD ClinGen
rs764604303 CA4984571	393	V>I		No	ExAC gnomAD ClinGen
COSM1145417 COSM1145418 rs763376371 CA4984570 COSM609556	394	V>I	lung [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
rs763376371 CA372905574	394	V>L		No	ExAC TOPMed gnomAD ClinGen
CA4984569 rs775600962	395	A>T		No	ExAC gnomAD ClinGen
CA4984568 rs770014769	397	N>S		No	ClinGen ExAC TOPMed gnomAD
rs759737427 CA188816412	399	I>L		No	ClinGen ExAC gnomAD
CA4984567 rs759737427	399	I>V		No	ClinGen ExAC gnomAD
CA372905530 rs1210208767	401	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	403	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1354824749 CA372905501	406	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs756386510 CA188816395	407	P>L		No	ClinGen Ensembl
rs375566051 CA4984561	408	V>M		No	ESP ExAC TOPMed gnomAD ClinGen
rs1020373688 CA188816390	409	L>V		No	ClinGen TOPMed
rs780092033 CA4984560	411	Q>K		No	ExAC gnomAD ClinGen
TCGA novel	414	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1343614997 CA372905437	416	A>P		No	TOPMed gnomAD ClinGen
rs1158240950 CA372905433	416	A>V		No	gnomAD ClinGen
rs1421918892 CA372905413	419	S>R		No	ClinGen gnomAD
rs1412991544 CA372905410	420	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA4984557 rs780812384	420	A>V		No	ExAC TOPMed gnomAD ClinGen
rs1564007461 CA372905104	426	A>G		No	Ensembl ClinGen
CA188816364 rs533774328	427	R>*		No	ClinGen 1000Genomes
CA372905075 rs1235655964	428	M>I		No	ClinGen TOPMed
rs1488445985 CA372905060	430	S>G		No	gnomAD ClinGen
rs1029418348 CA188816360	430	S>T		No	ClinGen TOPMed
COSM1110535 CA4984554 COSM1598511 COSM1598512 rs764400127	431	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA372905032 rs1592578836	432	T>P		No	ClinGen Ensembl
rs765882453 CA4984551	432	T>S		No	ExAC gnomAD ClinGen
CA188816338 rs970315764	434	I>V		No	ClinGen TOPMed gnomAD
CA372904986 rs1359933312	435	L>F		No	TOPMed gnomAD ClinGen
rs202222673 CA4984549	436	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1564006880 CA372904932	439	K>N		No	Ensembl ClinGen
rs1301678919 CA372904924	440	E>G		No	ClinGen TOPMed
rs1480778931 CA372904931	440	E>K		No	ClinGen gnomAD
CA372904922 rs1301678919	440	E>V		No	ClinGen TOPMed
CA372904891 rs1362700624	443	E>Q		No	ClinGen gnomAD
CA188816332 rs1014432181	444	P>R		No	Ensembl ClinGen
rs1299743815 CA372904870	445	N>H		No	gnomAD ClinGen
CA4984548 rs771215769	445	N>T		No	ClinGen ExAC gnomAD
COSM142713 rs724159855 CA188816315	446	G>E	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs10977171 VAR_024581 CA4984546	447	Q>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA372904837 rs1425536637	448	I>V		No	gnomAD ClinGen
CA188816308 rs949842442	449	Q>H		No	TOPMed gnomAD ClinGen
rs1420816364 CA372904815	449	Q>L		No	ClinGen gnomAD
CA4984545 rs768355053	451	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	452	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	452	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1564006182 CA372904762	454	Y>H		No	Ensembl ClinGen
CA372904719 rs1224416920	457	M>T		No	ClinGen gnomAD
COSM3780131 rs372854730 COSM3780130 COSM3780129 CA4984544	457	M>V	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA372904698 rs1592576789	458	D>E		No	Ensembl ClinGen
CA4984543 rs779854406	459	P>A		No	ExAC TOPMed gnomAD ClinGen
CA4984542 rs769785292	459	P>H		No	ClinGen ExAC TOPMed gnomAD
rs745328135 CA4984541	460	T>I		No	ExAC gnomAD ClinGen
CA372904653 rs1303346936	462	H>Y		No	TOPMed ClinGen
rs751194677 CA4984538	465	N>S		No	ExAC TOPMed gnomAD ClinGen
rs777528687 CA4984537	467	M>L		No	ExAC gnomAD ClinGen
CA188816283 rs573967858	469	H>N		No	gnomAD ClinGen
rs1564005696 CA372904587	469	H>R		No	Ensembl ClinGen
CA372904589 rs573967858	469	H>Y		No	gnomAD ClinGen
TCGA novel	472	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372904559 rs1241634553	473	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs1238971095 CA372904548	474	S>R		No	ClinGen gnomAD
TCGA novel	475	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372904528 rs1169270162	477	T>S		No	ClinGen gnomAD
rs999374680 CA188816269	478	T>A		No	ClinGen TOPMed gnomAD
rs1425203347 CA372904524	478	T>I		No	gnomAD ClinGen
CA372904520 rs1196280775	479	I>V		No	ClinGen gnomAD
CA372904514 rs753172624	480	G>R		No	ClinGen ExAC gnomAD
CA4984535 rs753172624	480	G>S		No	ClinGen ExAC gnomAD
rs1193293310 CA372904509	481	N>D		No	ClinGen gnomAD
rs760129550 CA4984533	481	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	483	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372904495 rs1199303922	483	V>M		No	ClinGen TOPMed gnomAD
rs1392296908 CA372904465	487	T>A		No	ClinGen gnomAD
TCGA novel	489	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs551205020 CA4984530	489	S>C		No	1000Genomes ExAC gnomAD ClinGen
CA4984529 rs773278043	490	V>L		No	ExAC gnomAD ClinGen
CA372904438 rs1301635596	491	K>R		No	ClinGen gnomAD
rs1388309573 CA372904434	492	V>I		No	TOPMed gnomAD ClinGen
CA372904401 rs1472407944	497	S>A		No	TOPMed ClinGen
CA188816238 rs758285052	498	I>V		No	ClinGen gnomAD
CA188816236 rs200333683	500	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA372904373 rs1466122777	501	G>V		No	ClinGen gnomAD
rs967203023 CA188816207	505	S>N		No	ClinGen TOPMed
COSM1598517 COSM1598518 COSM1110530 rs767849594 CA4984528	506	D>G	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
CA372904335 rs1377861449	507	I>M		No	TOPMed gnomAD ClinGen
rs762646937 CA4984527	507	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4984526 rs775281391	508	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA372904331 rs1350229797	508	Q>R		No	ClinGen TOPMed
CA372904327 rs769652986	509	V>F		No	ClinGen ExAC TOPMed gnomAD
CA4984525 rs769652986	509	V>I		No	ClinGen ExAC TOPMed gnomAD
rs776072591 CA372904321	510	I>F		No	ClinGen ExAC TOPMed gnomAD
rs776072591 CA4984523	510	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4984521 rs746567652	512	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA188816185 rs921861586	512	Q>R		No	ClinGen Ensembl
CA4984520 rs777285092	513	T>A		No	ClinGen ExAC
CA372916688 rs1435126387	517	G>E		No	ClinGen TOPMed
CA4984492 rs757372220	517	G>R		No	ClinGen ExAC gnomAD
rs1287521671 CA372916668	520	L>P		No	ClinGen gnomAD
CA4984490 CA372916660 rs764341534	521	N>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	524	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372916625 rs1563928923	526	P>R		No	Ensembl ClinGen
rs1294518613 CA372916629	526	P>T		No	gnomAD ClinGen
CA372916623 rs1327108344	527	E>K		No	ClinGen TOPMed
TCGA novel	528	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1592284364 CA372916598	530	T>R		No	ClinGen Ensembl
rs369501289 CA188844830	531	S>G		No	ClinGen ESP TOPMed
CA4984488 rs753688426	531	S>I		No	ExAC gnomAD ClinGen
CA372916587 rs1419441419	532	I>V		No	gnomAD ClinGen
rs1432521331 CA372916579	533	L>F		No	gnomAD ClinGen
CA4984487 rs766169151	533	L>V		No	ClinGen ExAC gnomAD
rs760666296 CA4984486	533	L>W		No	ExAC gnomAD ClinGen
CA188844820 rs866359023	534	L>F		No	TOPMed ClinGen
rs771630160 CA4984484	535	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4984483 rs761454948	536	W>R		No	ClinGen ExAC gnomAD
rs1003523552 CA188844805	537	T>R		No	ClinGen Ensembl
CA4984481 rs141604755	538	P>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs141604755 CA4984482	538	P>T		No	ESP ExAC TOPMed gnomAD ClinGen
rs780474561 CA4984479	539	P>Q		No	ClinGen ExAC gnomAD
rs770164058 CA4984478	540	R>C		No	ExAC TOPMed gnomAD ClinGen
CA4984477 rs371642520	540	R>H		No	ESP ExAC TOPMed gnomAD ClinGen
COSM1598519 CA372916522 rs1203991786 COSM1598520 COSM1110526	543	T>I	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA372916519 rs1197908331	544	I>T		No	ClinGen gnomAD
CA4984475 rs200427689	544	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs573381420 CA372916513	545	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573381420 CA372916512	545	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1040116512 CA188844787	545	A>P		No	ClinGen TOPMed
rs1040116512 CA372916514	545	A>S		No	ClinGen TOPMed
CA4984474 rs573381420	545	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777957230 CA4984473	546	N>S		No	ExAC gnomAD ClinGen
CA4984471 rs374822380	549	L>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs1215957803 CA372916484	550	V>I		No	ClinGen gnomAD
rs1274572732 CA372916474	551	Y>C		No	ClinGen gnomAD
rs1274572732 CA372916473	551	Y>S		No	ClinGen gnomAD
CA4984469 rs760477340	552	K>R		No	ExAC gnomAD ClinGen
CA4984467 rs767393564	553	D>G		No	ExAC gnomAD ClinGen
rs750349056 CA4984468	553	D>H		No	ClinGen ExAC TOPMed gnomAD
CA372916463 rs750349056	553	D>N		No	ClinGen ExAC TOPMed gnomAD
CA372916451 rs1592282397	555	E>K		No	ClinGen Ensembl
rs761397613 CA4984466	556	H>Q		No	ExAC gnomAD ClinGen
rs749328146 CA188844767	556	H>R		No	ClinGen Ensembl
rs867521565 CA188844761	557	G>R		No	TOPMed gnomAD ClinGen
CA4984430 rs751520215	560	Q>E		No	ExAC TOPMed gnomAD ClinGen
CA372915962 rs1240853179	560	Q>R		No	TOPMed ClinGen
CA4984429 rs764168261	561	R>G		No	ClinGen ExAC gnomAD
COSM1598521 rs757922864 CA4984428 COSM1110524 COSM1598522	561	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs752209257 CA4984427	562	I>N		No	ClinGen ExAC
rs1416784145 CA372915943	562	I>V		No	TOPMed gnomAD ClinGen
rs368781521 CA372915911	564	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs368781521 CA4984426	564	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4984425 rs759113691	564	I>T		No	ClinGen ExAC gnomAD
rs368781521 CA188842951	564	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs766752448 CA4984423	566	P>A		No	ClinGen ExAC TOPMed gnomAD
rs761072779 CA4984422	566	P>L		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	566	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766752448 CA372915880	566	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4984420 rs772631459 CA372915866	567	G>R		No	ExAC TOPMed gnomAD ClinGen
rs1384063536 CA372915849	568	T>I		No	TOPMed ClinGen
rs1400318844 CA372915855	568	T>S		No	ClinGen TOPMed
CA4984418 rs774302031	571	R>G		No	ExAC gnomAD ClinGen
CA372915808 TCGA novel rs1216291824	571	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs1325872764 CA372915804	572	L>V		No	ClinGen TOPMed
CA4984416 rs749498538	574	G>R		No	ExAC gnomAD ClinGen
CA4984414 rs372682523	576	K>I		No	ClinGen ESP ExAC gnomAD
TCGA novel	576	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1290614392 CA372915739	577	P>A		No	ClinGen gnomAD
rs746869234 CA4984413	577	P>L		No	ExAC gnomAD ClinGen
CA372915723 rs1324769577	578	N>Y		No	TOPMed ClinGen
CA4984411 rs758284103	579	S>I		No	ExAC TOPMed gnomAD ClinGen
CA4984412 rs758284103	579	S>T		No	ExAC TOPMed gnomAD ClinGen
CA4984410 rs147427272	582	Y>C		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs149726933 CA4984409	583	F>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA4984408 rs754609275	584	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4984406 rs139581216	584	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4984407 rs139581216	584	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4984405 rs761019710	585	L>M		No	ClinGen ExAC gnomAD
rs1349236329 CA372915603	586	A>V		No	ClinGen gnomAD
CA4984403 rs200847027	588	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150553394 CA4984402	588	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	589	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA188842880 rs774444064	590	P>A		No	ExAC TOPMed gnomAD ClinGen
CA4984399 rs368873301	590	P>L		No	ClinGen ESP ExAC gnomAD
CA4984400 rs368873301	590	P>R		No	ClinGen ESP ExAC gnomAD
CA4984401 rs774444064	590	P>S		No	ExAC TOPMed gnomAD ClinGen
CA372915499 rs1189856782	591	Q>*		No	ClinGen gnomAD
rs1189856782 CA372915511	591	Q>E		No	ClinGen gnomAD
CA372915457 rs1563902484	592	G>V		No	Ensembl ClinGen
CA4984398 rs775851381	593	L>V		No	ExAC gnomAD ClinGen
CA372915389 rs1216143513	595	A>S		No	gnomAD ClinGen
CA372915366 rs1257574980	596	S>C		No	gnomAD ClinGen
rs746744830 CA4984396	596	S>P		No	ExAC gnomAD ClinGen
CA188842862 rs1034278262	597	T>A		No	TOPMed gnomAD ClinGen
rs777712879 CA4984395	598	A>V		No	ExAC gnomAD ClinGen
CA4984393 rs560653184	600	I>M		No	1000Genomes ExAC gnomAD ClinGen
CA4984394 rs772002226	600	I>T		No	ExAC gnomAD ClinGen
rs1455551669 CA372915276	601	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs754414121 CA4984392	601	S>P		No	ExAC gnomAD ClinGen
rs754414121 CA4984391	601	S>T		No	ExAC gnomAD ClinGen
rs753412640 CA4984390	602	A>T		No	ExAC gnomAD ClinGen
CA372915206 rs1159316929	605	M>R		No	TOPMed ClinGen
rs905180868 COSM180077 CA188841070	609	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA372914648 rs1175918440	610	S>*		No	TOPMed gnomAD ClinGen
rs373833849 CA4984370	611	A>G		No	ESP ExAC TOPMed gnomAD ClinGen
CA188841061 rs1042516844	611	A>P		No	ClinGen TOPMed
COSM1700905 CA372914625 COSM1700906 rs1469187496	612	P>L	skin [Cosmic]	No	gnomAD ClinGen cosmic curated
CA4984369 rs780938377	612	P>T		No	ClinGen ExAC gnomAD
CA188841053 rs201991300	614	Q>E		No	ClinGen TOPMed
CA188841049 rs1044353748	615	D>H		No	gnomAD ClinGen
CA372914600 rs1044353748	615	D>N		No	gnomAD ClinGen
CA372914592 rs1358247816	616	I>V		No	TOPMed ClinGen
CA4984368 rs757562644	618	C>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA372914574 rs757562644	618	C>S		No	ExAC TOPMed gnomAD ClinGen
rs752023699 CA188841043	619	T>I		No	ClinGen ExAC TOPMed gnomAD
rs752023699 CA4984367	619	T>S		No	ClinGen ExAC TOPMed gnomAD
CA4984366 rs764453624	621	P>R		No	ExAC TOPMed gnomAD ClinGen
CA372914532 rs1341672103	624	T>I		No	gnomAD ClinGen
CA372914505 rs1336999621	626	I>S		No	gnomAD ClinGen
rs747872615 CA188841037	626	I>V		No	ClinGen gnomAD
CA4984365 rs758981273	629	S>G		No	ExAC gnomAD ClinGen
CA188841031 rs752781455	632	P>H		No	ExAC TOPMed gnomAD ClinGen
CA4984364 rs752781455	632	P>R		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	633	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765426964 CA4984363	633	P>Q		No	ExAC gnomAD ClinGen
rs1315123406 CA372914422	633	P>T		No	ClinGen TOPMed gnomAD
rs1360338435 CA372914401	634	P>L		No	TOPMed gnomAD ClinGen
rs1360338435 CA372914403	634	P>R		No	TOPMed gnomAD ClinGen
rs201029964 CA4984362	635	V>L		No	ExAC gnomAD ClinGen
rs866184934 CA188841021	636	E>K		No	Ensembl ClinGen
rs1207682243 CA372914335	639	N>S		No	ClinGen TOPMed
CA4984359 rs141920894	640	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4984360 rs766690098	640	G>S		No	ExAC gnomAD ClinGen
rs1475630432 CA372914316	641	I>V		No	gnomAD ClinGen
CA372914295 rs1191824404	643	T>A		No	gnomAD ClinGen
rs555883510 CA4984356	644	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA188841007 rs141683712	644	E>K		No	ESP ClinGen
CA4984354 rs769263544	647	I>M		No	ExAC gnomAD ClinGen
rs932334009 CA372914215	649	Y>H		No	ClinGen TOPMed
rs932334009 CA188840997	649	Y>N		No	ClinGen TOPMed
TCGA novel	650	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747273613 CA4984350	651	A>E		No	ClinGen ExAC gnomAD
rs747273613 CA4984351	651	A>V		No	ClinGen ExAC gnomAD
rs920903792 CA188840988	652	V>G		No	ClinGen gnomAD
rs778234420 COSM223316 CA4984349	652	V>M	skin [Cosmic]	No	ClinGen cosmic curated ExAC
TCGA novel	653	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4984348 rs758923566	653	D>V		No	ExAC gnomAD ClinGen
rs753230834 CA4984347	654	G>R		No	ClinGen ExAC gnomAD
CA372914146 rs1326198997	655	E>G		No	gnomAD ClinGen
CA372914148 rs1431098967	655	E>K		No	ClinGen TOPMed
rs751451258 CA4984346	656	D>N		No	ClinGen ExAC gnomAD
CA372914120 rs1563873199	657	D>Y		No	ClinGen Ensembl
TCGA novel	658	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4984345 rs755104213	659	P>H		No	ClinGen ExAC TOPMed gnomAD
CA372914088 rs755104213	659	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1320425200 CA372914082	660	H>D		No	TOPMed ClinGen
rs766452121 CA4984343	662	I>T		No	ClinGen ExAC gnomAD
COSM369025 CA372914027 rs184665510	664	G>*	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
CA188840965 rs184665510	664	G>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA4984340 rs763856438	665	I>T		No	ClinGen ExAC gnomAD
rs773970763 CA4984341	665	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1327875256 CA372914008	666	P>A		No	gnomAD ClinGen
CA372914001 rs1193645875	666	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs191877533 CA4984339	667	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA188840947 rs1025024794	669	T>P		No	ClinGen TOPMed gnomAD
CA4984335 rs776212192	670	T>A		No	ClinGen ExAC gnomAD
rs770452187 CA4984334	670	T>I		No	ExAC gnomAD ClinGen
CA4984332 rs141513344	671	K>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1027099282 CA188840933	672	Y>*		No	ClinGen Ensembl
rs1329750560 CA372913930	672	Y>C		No	ClinGen gnomAD
CA4984331 rs552513827	672	Y>H		No	1000Genomes ExAC ClinGen
rs748586269 CA4984330	673	L>F		No	ExAC gnomAD ClinGen
CA4984329 rs779550244	673	L>H		No	ClinGen ExAC TOPMed gnomAD
rs748586269 CA372913923	673	L>I		No	ExAC gnomAD ClinGen
rs1329398246 CA372913900	675	E>K		No	gnomAD ClinGen
CA372913868 rs1420516217	676	Q>L		No	ClinGen gnomAD
rs1168246256 CA372913852	678	E>K		No	ClinGen gnomAD
CA4984325 rs780212583	681	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA4984326 rs753793335	681	T>S		No	ClinGen ExAC gnomAD
rs1554651695 CA4984323	683	Y>N		No	Ensembl ClinGen
rs202068877 CA4984321	684	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4984320 rs202068877	684	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs756198535 CA4984322	684	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1436814939 CA372913792	685	I>L		No	TOPMed gnomAD ClinGen
CA372913777 rs1408307039	687	V>L		No	TOPMed ClinGen
CA372913768 rs1343295063	688	T>I		No	ClinGen TOPMed gnomAD
rs1343295063 CA372913769	688	T>R		No	ClinGen TOPMed gnomAD
CA372913756 rs1478608021	690	H>Q		No	ClinGen gnomAD
rs759552919 CA4984316	690	H>R		No	ClinGen ExAC TOPMed gnomAD
CA4984315 rs775957349 COSM1155177	691	T>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs376837190 CA4984314	692	D>H		No	ESP ExAC TOPMed gnomAD ClinGen
rs376837190 CA4984313	692	D>N		No	ESP ExAC TOPMed gnomAD ClinGen
CA372913748 rs1441601285	692	D>V		No	gnomAD ClinGen
CA4984312 rs772990937	693	V>D		No	ExAC gnomAD ClinGen
CA372913738 rs1413041664	694	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs1172789699 CA372913723	696	G>D		No	gnomAD ClinGen
TCGA novel	697	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1454616471 CA372913715	697	P>L		No	ClinGen gnomAD
CA4984308 rs769002681	698	E>G		No	ClinGen ExAC gnomAD
rs749781360 CA4984307	699	S>I		No	ClinGen ExAC gnomAD
rs749781360 COSM754045 CA372913703 COSM1151354	699	S>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA188840869 rs1020812240	700	L>F		No	TOPMed ClinGen
rs149208359 CA4984306	701	S>P		No	ESP ExAC ClinGen
rs566949785 CA188840854	702	V>A		No	ClinGen 1000Genomes
rs138276051 CA4984304	702	V>M		No	ESP ExAC TOPMed gnomAD ClinGen
CA4984303 rs757479150	705	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4984302 rs757479150	705	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752451819 CA4984301	707	N>S		No	ClinGen ExAC gnomAD
CA4984299 rs759295947	708	E>*		No	ClinGen ExAC gnomAD
rs1307672375 CA372913645	709	D>G		No	ClinGen gnomAD
CA4984298 rs753775553	709	D>H		No	ExAC gnomAD ClinGen
rs745494178 CA188840261	711	P>L		No	Ensembl ClinGen
rs1220058466 CA372913602	714	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs780704033 CA4984262	715	P>L		No	ExAC gnomAD ClinGen
CA188840259 rs867508268	715	P>S		No	Ensembl ClinGen
CA372913592 COSM333144 rs1273962518	716	R>C	lung [Cosmic]	No	gnomAD ClinGen cosmic curated
CA4984261 COSM1314961 rs758558790	716	R>H	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ExAC TOPMed ClinGen cosmic curated NCI-TCGA
rs779744339 CA4984260	717	K>R		No	ClinGen ExAC gnomAD
rs779744339 CA4984259	717	K>T		No	ClinGen ExAC gnomAD
CA372913583 rs1413714021	718	V>I		No	gnomAD ClinGen
CA4984257 rs750362550	719	E>K		No	ClinGen ExAC gnomAD
TCGA novel	719	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4984256 rs372425454	720	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA372913569 rs372425454	720	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA372913564 rs1415574662	721	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs201886779 CA4984255	721	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4984254 rs150444130	722	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA372913548 rs1438701345	723	V>G		No	ClinGen gnomAD
CA4984253 rs763735791	724	N>S		No	ExAC gnomAD ClinGen
CA4984252 rs762547582	725	S>P		No	ClinGen ExAC gnomAD
rs1417238897 CA372913525	727	S>C		No	ClinGen TOPMed
TCGA novel	727	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4984249 rs141698449	728	V>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC gnomAD ClinGen NCI-TCGA
rs773166856 CA4984246	733	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs773166856 CA4984245	733	R>G		No	ExAC TOPMed gnomAD ClinGen
COSM1222611 CA4984243 rs748340591	733	R>H	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA4984244 rs748340591	733	R>L		No	ExAC TOPMed gnomAD ClinGen
rs1390141842 CA372913484	734	S>*		No	TOPMed ClinGen
CA188840180 rs371582630	734	S>P		No	ESP TOPMed gnomAD ClinGen
CA372913487 rs371582630	734	S>T		No	ESP TOPMed gnomAD ClinGen
rs745717615 CA4984240	736	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1297546114 CA372913468	737	P>L		No	gnomAD ClinGen
rs781217940 CA4984239	737	P>S		No	ExAC TOPMed gnomAD ClinGen
CA4984237 rs146435646	738	N>H		No	ClinGen ESP ExAC gnomAD
TCGA novel	738	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs113573567 CA4984236	738	N>S		No	ExAC TOPMed gnomAD ClinGen
CA4984234 rs539197556	743	Q>E		No	1000Genomes ExAC gnomAD ClinGen
CA188840151 rs879045110	743	Q>H		No	gnomAD ClinGen
CA4984233 rs764932470	745	R>S		No	ExAC gnomAD ClinGen
rs1356574176 CA372913391	748	Q>H		No	gnomAD ClinGen
CA4984232 rs759878846	749	V>L		No	ClinGen ExAC gnomAD
CA4984230 rs766801492	750	H>L		No	ExAC TOPMed gnomAD ClinGen
rs199632354 CA4984229	751	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA372913354 rs1408632072	754	M>T		No	Ensembl ClinGen
CA372913328 rs1352576127	755	E>G		No	ClinGen gnomAD
rs541301611 CA188840119	756	N>D		No	gnomAD ClinGen
TCGA novel	756	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA188840116 rs942631776	757	G>A		No	TOPMed ClinGen
CA372912661 rs1202079054	759	P>S		No	TOPMed ClinGen
CA372912655 rs373653029	760	K>E		No	ESP ExAC TOPMed gnomAD ClinGen
CA4984227 rs373653029	760	K>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA4984226 rs761991194	760	K>R		No	ExAC gnomAD ClinGen
rs774424685 CA4984225	761	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4984223 rs781164830	763	P>H		No	ClinGen ExAC gnomAD
rs781164830 CA4984222	763	P>R		No	ClinGen ExAC gnomAD
rs769015605 CA4984224	763	P>S		No	ExAC TOPMed gnomAD ClinGen
rs770945990 CA4984221	764	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1288683290 CA372912576	766	K>T		No	TOPMed gnomAD ClinGen
TCGA novel	768	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372912523 rs1353133921	769	M>I		No	TOPMed gnomAD ClinGen
rs1333470758 CA372912537 CA372912540	769	M>L		No	ClinGen TOPMed gnomAD
rs1333470758 CA372912538	769	M>V		No	ClinGen TOPMed gnomAD
CA4984219 rs777808586	770	L>P		No	ClinGen ExAC TOPMed gnomAD
rs142331255 CA4984220	770	L>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs1375103552 CA372912507	771	A>G		No	gnomAD ClinGen
rs1434452721 CA372912493	772	D>V		No	gnomAD ClinGen
CA372912479 rs1176060281	773	A>G		No	ClinGen TOPMed gnomAD
rs1376492499 CA372912486	773	A>T		No	ClinGen gnomAD
CA4984195 rs747543296	775	W>*		No	ExAC TOPMed gnomAD ClinGen
rs940522027 CA372912208	775	W>*		No	ClinGen TOPMed gnomAD
rs940522027 CA188832304	775	W>C		No	ClinGen TOPMed gnomAD
CA4984194 rs778423564	776	E>D		No	ClinGen ExAC gnomAD
COSM1700899 COSM1700900 CA372912206 rs1270795879	776	E>K	skin [Cosmic]	No	gnomAD ClinGen cosmic curated
rs1335093447 CA372912195	777	F>S		No	gnomAD ClinGen
CA188832296 rs1020013576	778	D>G		No	TOPMed gnomAD ClinGen
CA372912177 rs1240271647	779	D>E		No	TOPMed ClinGen
CA4984193 rs557333278	780	T>A		No	1000Genomes ExAC gnomAD ClinGen
CA372912172 rs1326251912	780	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs72694737 CA4984192	781	T>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA4984191 rs779722038	781	T>S		No	ClinGen ExAC gnomAD
rs756429355 CA4984190	782	E>D		No	ClinGen ExAC gnomAD
CA188832275 rs984567738	782	E>V		No	Ensembl ClinGen
CA372912159 rs1325316039	783	H>Y		No	gnomAD ClinGen
rs1192842773 CA372912140	784	D>N		No	gnomAD ClinGen
rs778494788 CA4984168	786	I>V		No	ClinGen ExAC gnomAD
rs752834349 CA4984166	792	P>A		No	ClinGen ExAC TOPMed gnomAD
CA372912084 rs752834349	792	P>T		No	ClinGen ExAC TOPMed gnomAD
CA372912062 rs1591916802	794	T>S		No	Ensembl ClinGen
CA372912049 rs759831182	795	S>C		No	ExAC TOPMed gnomAD ClinGen
CA4984164 rs759831182	795	S>F		No	ExAC TOPMed gnomAD ClinGen
rs1336605025 CA372912055	795	S>P		No	gnomAD ClinGen
CA4984162 rs767319943	797	S>A		No	ExAC ClinGen
CA372912014 rs1373453870	798	L>V		No	ClinGen gnomAD
rs201412075 CA4984160 COSM1463262	800	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA372911964 rs1426581166	801	T>I		No	gnomAD ClinGen
CA372911918 rs1487419449	805	T>A		No	TOPMed ClinGen
rs768638009 CA4984159	805	T>I		No	ExAC gnomAD ClinGen
CA4984158 rs762383558	806	K>N		No	ExAC gnomAD ClinGen
CA188828568 rs767627241	807	G>R		No	Ensembl ClinGen
TCGA novel	809	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4984155 rs370537977	810	A>G		No	ESP ExAC TOPMed gnomAD ClinGen
CA4984154 rs377557345 COSM180075	811	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA4984153 COSM3413773 rs544419494 COSM3413772	811	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA372911821 rs1424916913	814	P>R		No	TOPMed ClinGen
CA4984151 rs778370224	814	P>S		No	ClinGen ExAC gnomAD
rs61733169 CA4984150	815	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
COSM150576 rs752781036 CA4984149	815	K>N	stomach [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA372911817 rs1434814256	815	K>T		No	ClinGen TOPMed
rs779070490 CA4984148	816	L>V		No	ExAC TOPMed gnomAD ClinGen
rs146206137 CA188828536	817	V>A		No	ESP TOPMed ClinGen
CA372911807 rs1413231077	817	V>L		No	ClinGen gnomAD
TCGA novel	820	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1229093890 CA372911788	820	T>S		No	TOPMed ClinGen
CA4984146 rs754059551	822	A>S		No	ExAC TOPMed gnomAD ClinGen
rs1271142393 CA372911723	826	K>E		No	ClinGen TOPMed
CA4984105 rs758179072	826	K>T		No	ClinGen ExAC gnomAD
CA4984104 rs752452602	827	P>A		No	ClinGen ExAC TOPMed gnomAD
CA188822366 rs930226985	827	P>L		No	Ensembl ClinGen
CA372911716 rs752452602	827	P>S		No	ClinGen ExAC TOPMed gnomAD
rs536936783 CA4984101	828	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs141603921 CA4984102	828	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs764032821 CA188822332	830	V>G		No	TOPMed gnomAD ClinGen
CA4984098 rs139820348 CA188822345	830	V>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA4984099 rs139820348	830	V>M		No	ESP ExAC TOPMed gnomAD ClinGen
rs767335518 CA4984097	831	I>V		No	ExAC gnomAD ClinGen
rs774583181 CA4984095	832	N>K		No	ClinGen ExAC gnomAD
rs762178621 CA4984096	832	N>S		No	ClinGen ExAC TOPMed gnomAD
rs150498140 CA4984094	833	H>R		No	ESP ExAC TOPMed gnomAD ClinGen
rs749737629 CA4984093	834	T>A		No	ExAC gnomAD ClinGen
rs571780728 CA4984092	834	T>S		No	1000Genomes ExAC gnomAD ClinGen
rs769862703 CA4984091 CA372911673	835	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA4984087 COSM142716 COSM4139623 rs724159858 COSM4139622	836	M>I	lung Variant assessed as Somatic; 0.0 impact. skin [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA4984088 rs771067182	836	M>K		No	ExAC gnomAD ClinGen
CA4984090 rs781336894	836	M>L		No	ExAC TOPMed gnomAD ClinGen
CA4984089 rs781336894	836	M>V		No	ExAC TOPMed gnomAD ClinGen
rs367702856 CA4984086	837	N>I		No	ESP ExAC TOPMed gnomAD ClinGen
CA188822282 rs902406382	838	T>A		No	TOPMed gnomAD ClinGen
rs754848045 CA4984085	838	T>I		No	ExAC gnomAD ClinGen
rs200535332 CA188822279	839	A>G		No	gnomAD ClinGen
rs142009246 CA4984083	840	L>F		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	840	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142009246 CA4984084	840	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA188822260 rs1008027529	841	I>F		No	ClinGen TOPMed
rs755670388 CA4984082	841	I>T		No	ClinGen ExAC gnomAD
rs1591739636 CA372911622	844	H>P		No	ClinGen Ensembl
rs373774067 CA4984081	844	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1469043652 COSM1700897 COSM1700898 CA372911614	845	P>L	skin [Cosmic]	No	Ensembl ClinGen cosmic curated
CA4984079 rs61733192	845	P>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1405436279 CA372911606	847	V>A		No	ClinGen TOPMed gnomAD
rs143787300 CA4984077	847	V>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs143787300 CA4984076	847	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs371396224 CA4984074	848	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4984075 rs775966181	848	D>Y		No	ClinGen ExAC gnomAD
rs919912664 CA188822233	850	F>C		No	TOPMed ClinGen
rs1160176300 CA372911589	850	F>V		No	gnomAD ClinGen
CA372911581 rs143196383	851	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4984073 rs143196383	851	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA372911576 rs776728008	852	P>H		No	ExAC TOPMed gnomAD ClinGen
CA4984072 rs776728008	852	P>R		No	ExAC TOPMed gnomAD ClinGen
rs747173505 CA4984071	853	L>F		No	ExAC gnomAD ClinGen
rs747173505 CA4984070	853	L>I		No	ExAC gnomAD ClinGen
TCGA novel	854	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778093636 CA4984069	854	Q>E		No	ClinGen ExAC gnomAD
rs1256737547 CA372911560	855	G>D		No	ClinGen gnomAD
TCGA novel	856	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1253544939 CA372911556	856	Y>H		No	TOPMed ClinGen
rs768330226 CA4984068	857	R>C		No	ClinGen ExAC TOPMed gnomAD
rs139171396 CA4984067	857	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768330226 CA372911549	857	R>S		No	ClinGen ExAC TOPMed gnomAD
CA372911545 rs146596907	858	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4984066 rs146596907	858	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1382383658 CA372911536	859	K>I		No	ClinGen TOPMed
rs756125530 CA4984065	860	F>Y		No	ExAC ClinGen
CA4984063 rs780545572	861	G>C		No	ExAC gnomAD ClinGen
rs763867237 CA4984060	862	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs142397137 CA4984057	862	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142397137 CA4984059	862	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142397137 CA4984058	862	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760062898 CA4984056	863	K>E		No	ExAC TOPMed gnomAD ClinGen
CA372911516 rs1239922823	863	K>R		No	TOPMed ClinGen
rs374373402 CA4984054	864	D>N		No	ESP ExAC TOPMed gnomAD ClinGen
CA4984055 rs374373402	864	D>Y		No	ESP ExAC TOPMed gnomAD ClinGen
rs773290436 CA4984052	865	M>T		No	ExAC gnomAD ClinGen
CA4984053 rs760873688	865	M>V		No	ExAC TOPMed gnomAD ClinGen
CA4984051 rs772351306	866	E>A		No	ClinGen ExAC gnomAD
rs1392599086 CA372911498	866	E>Q		No	gnomAD ClinGen
rs73426359 CA4984049	867	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs994861872 CA372911477	869	T>N		No	gnomAD ClinGen
rs994861872 CA188822141	869	T>S		No	gnomAD ClinGen
CA372911467 rs1426671700	871	L>F		No	ClinGen TOPMed gnomAD
CA372911468 rs1426671700	871	L>V		No	ClinGen TOPMed gnomAD
CA372911456 rs1246819365	872	E>D		No	ClinGen gnomAD
rs1191702282 CA372911462	872	E>Q		No	TOPMed ClinGen
rs745770568 CA4984047	875	E>G		No	ExAC gnomAD ClinGen
rs1465893234 CA372911427	876	K>N		No	gnomAD ClinGen
rs781257955 CA4984046	877	E>V		No	ClinGen ExAC gnomAD
rs201583436 CA4984045	879	H>D		No	ExAC TOPMed gnomAD ClinGen
rs201583436 CA372911411	879	H>N		No	ExAC TOPMed gnomAD ClinGen
CA4984043 rs777227782	879	H>R		No	ClinGen ExAC gnomAD
rs201583436 CA4984044	879	H>Y		No	ExAC TOPMed gnomAD ClinGen
rs758081033 CA4984042	881	T>R		No	ExAC gnomAD ClinGen
rs1365135818 CA372911390	882	A>V		No	gnomAD ClinGen
rs755372852 CA4984039	883	T>A		No	ClinGen ExAC gnomAD
CA372911383 rs1368935995	883	T>I		No	gnomAD ClinGen
CA188822117 rs61733190	885	I>V		No	gnomAD ClinGen
CA372911366 rs1460366870	886	H>Y		No	gnomAD ClinGen
rs1389445070 CA372911360	887	K>E		No	TOPMed gnomAD ClinGen
rs766965829 CA4984037	889	A>T		No	ExAC gnomAD ClinGen
rs201698200 CA4984036	891	Y>H		No	ExAC TOPMed gnomAD ClinGen
RCV000890540 CA4984034 rs151005956 COSM33478 COSM1463255	892	V>A	large_intestine [Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar dbSNP
COSM1569900 COSM3764026 rs370631792 CA4984035	892	V>I	large_intestine [Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated
rs565060815 CA4984032	894	R>G		No	1000Genomes ExAC gnomAD ClinGen
rs565060815 CA4984031	894	R>W		No	1000Genomes ExAC gnomAD ClinGen
rs1274347777 CA372911299	897	A>T		No	TOPMed gnomAD ClinGen
CA4984029 COSM1735510 rs201045220 COSM1735509	897	A>V	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
VAR_035647	901	V>A	a colorectal cancer sample; somatic mutation [UniProt]	No	UniProt
rs139325672 CA188822059	901	V>M		No	ESP ClinGen
rs746464393 CA4984027	902	G>C		No	ExAC gnomAD ClinGen
rs866150917 CA188822053	905	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
CA372911245 rs1369780691	905	E>K		No	gnomAD ClinGen
TCGA novel	906	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372911228 TCGA novel rs1392659820	907	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs1050051650 CA188822052	907	M>L		No	TOPMed gnomAD ClinGen
CA372911229 rs777369355	907	M>R		No	ClinGen ExAC TOPMed gnomAD
rs777369355 CA4984026	907	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1050051650 CA372911231	907	M>V		No	TOPMed gnomAD ClinGen
TCGA novel	908	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1171509183 CA372911225	908	V>M		No	gnomAD ClinGen
CA4984025 rs757956278	909	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	910	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4984023 rs374125865	913	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4984022 rs755319777	914	P>S		No	ClinGen ExAC gnomAD
rs766728235 CA4984020	915	E>G		No	ClinGen ExAC gnomAD
CA4984021 rs754241433	915	E>K		No	ExAC gnomAD ClinGen
rs747803106 CA188822032	916	E>D		No	ClinGen Ensembl
rs995319192 CA372911164	917	V>E		No	TOPMed gnomAD ClinGen
rs995319192 CA188822019	917	V>G		No	TOPMed gnomAD ClinGen
rs756674564 COSM609572 COSM1145402 CA4984019	917	V>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
CA188822009 rs779664035	918	P>A		No	ClinGen TOPMed gnomAD
CA372911163 rs779664035	918	P>T		No	ClinGen TOPMed gnomAD
rs1277989514 CA372911157	919	T>A		No	gnomAD ClinGen
rs73426355 CA4984017	919	T>N		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	920	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4984014 rs139889630	921	F>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA188821996 rs560837158	921	F>Y		No	1000Genomes ClinGen
CA4984013 rs148625202	923	Q>P		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA188821987 rs940020116	924	N>K		No	TOPMed ClinGen
rs776518551 CA4984012	925	L>V		No	ClinGen ExAC gnomAD
CA372911113 rs1297632010	926	H>R		No	ClinGen TOPMed
CA188821980 rs907252181	928	E>D		No	ClinGen TOPMed
CA372911101 rs1333477882	928	E>Q		No	gnomAD ClinGen
CA4984011 rs370179359	930	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA372911071 rs1355121371	933	T>A		No	TOPMed ClinGen
rs1231220042 CA372911067	933	T>I		No	ClinGen TOPMed
CA372911063 rs1472066032	934	S>Y		No	ClinGen gnomAD
CA4984008 rs375803455	935	V>F		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA4984009 rs375803455	935	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA372911050 rs778482795 CA4984006	936	Q>H		No	ExAC TOPMed gnomAD ClinGen
rs1484916335 CA372911053	936	Q>R		No	TOPMed gnomAD ClinGen
rs768304324 CA372911043	937	L>F		No	ExAC TOPMed gnomAD ClinGen
CA4984003 RCV000889634 rs61733170	941	P>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs985218104 CA372911017	941	P>L		No	TOPMed gnomAD ClinGen
rs985218104 CA188821952	941	P>R		No	TOPMed gnomAD ClinGen
rs61733170 CA372911018	941	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745584700 CA4984000	945	A>V		No	ExAC TOPMed gnomAD ClinGen
rs184229513 CA4983999	948	N>S		No	1000Genomes ExAC gnomAD ClinGen
rs1371899497 CA372910965	950	I>V		No	ClinGen TOPMed
rs1313629275 CA372910950	952	T>A		No	TOPMed ClinGen
CA4983998 rs751692283	952	T>S		No	ClinGen ExAC gnomAD
CA188821901 rs924990333	953	K>Q		No	TOPMed ClinGen
CA4983997 rs764368859	955	T>A		No	ClinGen ExAC gnomAD
CA372910928 rs763256154	955	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA372910929 rs763256154	955	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4983996 rs763256154	955	T>S		No	ClinGen ExAC TOPMed gnomAD
rs766162362 CA4983994	956	L>F		No	ClinGen ExAC gnomAD
CA372910922 rs1413607612	957	L>F		No	gnomAD ClinGen
CA372910912 rs1290375270	958	Y>C		No	TOPMed ClinGen
rs553067690 CA4983993	959	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA372910901 rs1381492310	960	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA372910898 rs1240381742	960	D>V		No	gnomAD ClinGen
rs772013264 CA4983991	961	I>T		No	ClinGen ExAC gnomAD
rs761248573 CA4983990	962	N>S		No	ExAC TOPMed gnomAD ClinGen
rs768146360 CA4983988	963	I>S		No	ClinGen ExAC gnomAD
rs770180884 CA4983985	964	P>H		No	ClinGen ExAC gnomAD
rs770180884 CA372910871	964	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4983986 rs200281060	964	P>T		No	1000Genomes ExAC gnomAD ClinGen
rs1295362978 CA372910868	965	L>F		No	TOPMed gnomAD ClinGen
CA188821859 rs954068490	966	L>I		No	TOPMed gnomAD ClinGen
CA372910860 rs1486384359	966	L>R		No	ClinGen TOPMed
CA372910864 rs954068490	966	L>V		No	TOPMed gnomAD ClinGen
rs757868633 CA4983982	967	P>L		No	ExAC TOPMed gnomAD ClinGen
rs1349601667 CA372910849	968	M>R		No	ClinGen gnomAD
CA372910836 rs1165957484	970	Q>*		No	ClinGen gnomAD
rs777974658 CA4983980	971	L>V		No	ExAC gnomAD ClinGen
CA4983979 rs200885047	972	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA188821829 rs201017248	973	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4983978 rs201017248	973	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372910814 rs765439647	974	P>A		No	ClinGen ExAC TOPMed gnomAD
CA4983976 rs202018530	974	P>L		No	ClinGen 1000Genomes ExAC gnomAD
COSM116568 rs765439647 CA4983977	974	P>S	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA372910807 rs1488289979	975	A>G		No	ClinGen gnomAD
rs143288045 CA4983975	975	A>P		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs767404549 CA4983974	976	D>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	976	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375286955 CA4983973	977	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4983972 rs139259906	978	T>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA372910791 rs777601679	978	T>N		No	ClinGen TOPMed gnomAD
CA188821803 rs777601679	978	T>S		No	ClinGen TOPMed gnomAD
CA4983970 rs762428743	979	M>V		No	ExAC gnomAD ClinGen
CA4983968 rs368787989	981	L>F		No	ESP ExAC TOPMed gnomAD ClinGen
CA188821773 rs368787989	981	L>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA372910770 rs1293794757	982	T>A		No	TOPMed gnomAD ClinGen
rs376648567 CA4983966	982	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs771468864 CA4983965	983	G>S		No	ExAC ClinGen
rs778486665 CA372910742	986	P>L		No	ClinGen ExAC TOPMed gnomAD
rs778486665 CA4983963	986	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA188821735 rs977816283	987	D>V		No	TOPMed ClinGen
CA372910734 rs1371966838	988	T>A		No	ClinGen Ensembl
CA4983962 rs752550696	988	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1392042381 CA372910728	989	T>A		No	ClinGen gnomAD
CA372910724 rs1174079510	989	T>I		No	ClinGen TOPMed gnomAD
rs779127918 CA4983960	990	Y>H		No	ExAC TOPMed gnomAD ClinGen
CA4983957 rs146684382	991	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4983956 COSM370290 rs146684382	991	D>N	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs368569086 CA4983955	991	D>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA4983958 rs146684382	991	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA4983951 rs35929428 VAR_061761 COSM3764024 COSM3764025	995	R>C	large_intestine [Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated UniProt dbSNP
CA4983952 rs35929428	995	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA372910691 COSM3943087 COSM3943086 rs1250425659	995	R>H	oesophagus [Cosmic]	No	gnomAD ClinGen cosmic curated
rs776460073 CA4983949	996	A>S		No	ClinGen ExAC gnomAD
CA4983948 rs367882615	996	A>V		No	ClinGen ESP ExAC gnomAD
rs547908736 CA188821691	998	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
CA4983947 rs747439831	999	S>R		No	ClinGen ExAC gnomAD
rs773714012 CA4983946	1000	K>E		No	ExAC gnomAD ClinGen
CA372910656 rs1372910956	1001	G>R		No	ClinGen gnomAD
TCGA novel	1001	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1189677465 CA372910649	1002	P>S		No	gnomAD ClinGen
rs724159859 CA188821658 COSM142718 COSM3699748	1003	G>R	large_intestine Variant assessed as Somatic; impact. skin [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs755101026 CA4983942	1004	P>Q		No	ExAC gnomAD ClinGen
rs749481308 CA4983941	1005	Y>H		No	ExAC gnomAD ClinGen
CA4983938 rs751359202	1007	P>L		No	ClinGen ExAC TOPMed
CA4983939 rs750659786	1007	P>S		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	1008	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000949325 rs143674254 CA4983936	1010	Q>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs777724681 CA4983937	1010	Q>R		No	ExAC TOPMed gnomAD ClinGen
CA372910588 rs1221735750	1012	R>G		No	ClinGen TOPMed
CA4983935 rs752727004	1013	T>I		No	ClinGen ExAC gnomAD
CA372910581 rs1256082890	1013	T>P		No	gnomAD ClinGen
CA4983934 rs764618985	1014	L>V		No	ExAC TOPMed gnomAD ClinGen
rs767662106 CA4983932	1015	P>S		No	ExAC TOPMed gnomAD ClinGen
rs767662106 CA4983933	1015	P>T		No	ExAC TOPMed gnomAD ClinGen
CA372910568 rs1311200120	1016	V>M		No	ClinGen gnomAD
CA372910558 rs1450399333	1017	D>G		No	TOPMed ClinGen
TCGA novel	1023	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1357554274 CA372910465	1027	K>Q		No	gnomAD ClinGen
CA188821214 rs1020547017	1027	K>R		No	ClinGen TOPMed
rs1226929293 CA372910457	1028	A>T		No	ClinGen gnomAD
rs758094292 CA188821207	1028	A>V		No	Ensembl ClinGen
CA372910453 rs1341469793	1029	V>I		No	ClinGen gnomAD
CA372910418 rs1329600473	1034	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs372802313 CA188821202	1035	L>M		No	ESP TOPMed gnomAD ClinGen
rs724159857 COSM142715 CA188821201	1039	E>K	skin [Cosmic]	No	Ensembl ClinGen cosmic curated
COSM142714 rs724159856 CA4983906	1041	P>L	skin [Cosmic]	No	ExAC ClinGen cosmic curated
CA4983905 rs775567692	1042	E>G		No	ClinGen ExAC gnomAD
CA188821195 rs724159854	1042	E>K		No	Ensembl ClinGen
rs1304804924 CA372910354	1043	N>K		No	ClinGen gnomAD
CA372910344 rs1427754573	1045	N>H		No	TOPMed gnomAD ClinGen
CA372910342 rs1427754573	1045	N>Y		No	TOPMed gnomAD ClinGen
rs1168709750 CA372910330	1047	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs1591709657 CA372910324	1048	M>L		No	Ensembl ClinGen
rs138693679 CA4983903	1049	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA372910312 rs1416875031	1049	P>R		No	TOPMed ClinGen
TCGA novel	1051	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4983879 rs771184624	1055	D>N		No	ExAC gnomAD ClinGen
TCGA novel	1056	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4983878 rs747861210	1057	G>A		No	ClinGen ExAC gnomAD
rs1290617956 CA372910224	1059	M>I		No	TOPMed ClinGen
rs145574906 CA4983877	1060	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs768625058 CA4983876	1061	E>K		No	ClinGen ExAC TOPMed gnomAD
CA188820447 rs1040513040	1062	E>K		No	Ensembl ClinGen
rs1444300276 CA372910206	1062	E>V		No	ClinGen gnomAD
rs1282828198	1062	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1591684155 CA372910193	1064	D>G		No	ClinGen Ensembl
rs1338134782 CA372910195	1064	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1332959822 CA372910183	1066	R>G		No	ClinGen gnomAD
rs749208350 CA4983875	1066	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA372910176 rs867086172	1067	A>D		No	TOPMed ClinGen
CA188820446 rs867086172	1067	A>V		No	TOPMed ClinGen
rs1591683877 CA372910174	1068	T>P		No	ClinGen Ensembl
TCGA novel	1069	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4983874 rs780209225	1069	Q>R		No	ClinGen ExAC gnomAD
rs1457036460 CA372910157	1070	K>R		No	ClinGen gnomAD
CA4983872 rs140371409	1073	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA4983869 rs7869444 VAR_051761 CA4983870	1078	E>D		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
TCGA novel	1081	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1081	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1462749622 CA372910079	1082	S>A		No	gnomAD ClinGen
rs1187700148 CA372910053 COSM95125	1086	T>A	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs867884876 COSM1110517 CA188820416 COSM1598527 COSM1598528	1088	R>C	Variant assessed as Somatic; impact. urinary_tract endometrium [NCI-TCGA, Cosmic]	No	TOPMed ClinGen cosmic curated NCI-TCGA
rs537959261 CA4983867	1091	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs200684369 CA4983865 COSM1292875 COSM1292877 COSM1292876	1100	T>M	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs1405369086 COSM1555212 COSM1555211 COSM1555210 CA372909955	1101	A>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	TOPMed ClinGen cosmic curated NCI-TCGA
CA372909952 rs1354205318	1101	A>V		No	TOPMed gnomAD ClinGen
CA4983863 rs776807300	1102	K>E		No	ExAC gnomAD ClinGen
CA372909933 rs1452706341	1104	A>V		No	gnomAD ClinGen
CA372909916 rs1423655825	1107	V>I		No	gnomAD ClinGen
COSM1155174 COSM1110516 CA4983860 COSM1155175 rs773612496	1109	R>C	endometrium [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
CA4983859 rs768568228	1109	R>H		No	ExAC TOPMed gnomAD ClinGen
CA4983857 rs775510240	1110	T>I		No	ClinGen ExAC TOPMed gnomAD
rs775510240 CA4983858	1110	T>S		No	ClinGen ExAC TOPMed gnomAD
CA372909893 rs1363514053	1111	K>R		No	ClinGen TOPMed gnomAD
rs368086691 CA4983852	1115	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA372909866 rs150953872	1115	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs150953872 CA4983853	1115	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs780731723 CA4983854	1115	I>V		No	ExAC TOPMed gnomAD ClinGen
rs1025234387 CA188820383	1117	K>N		No	TOPMed gnomAD ClinGen
CA372909839 rs1289050125	1119	N>K		No	ClinGen TOPMed gnomAD
rs755535024 CA4983847	1121	D>G		No	ClinGen ExAC gnomAD
CA4983848 rs779244518	1121	D>H		No	ClinGen ExAC gnomAD
rs755535024 CA372909828	1121	D>V		No	ClinGen ExAC gnomAD
COSM1569903 COSM1569901 rs781290016 CA188820338 COSM1569902	1123	M>I	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	Ensembl ClinGen cosmic curated NCI-TCGA
rs376101446 CA4983846	1123	M>L		No	ExAC TOPMed gnomAD ClinGen
rs766454892 CA4983845	1123	M>T		No	ClinGen ExAC gnomAD
CA372909805 rs1450844867	1125	T>A		No	TOPMed ClinGen
rs1168823331 CA372909802	1125	T>S		No	ClinGen TOPMed
TCGA novel	1126	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA188820331 rs866125224	1126	V>M		No	Ensembl ClinGen
CA372909731 rs1349731798	1127	Q>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	1127	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372909687 rs1427127111	1130	E>A		No	ClinGen gnomAD
rs1388350160 CA372909669	1132	P>T		No	ClinGen gnomAD
CA372909643 rs1327297205	1134	N>T		No	ClinGen TOPMed
rs528891463 CA4983842	1134	N>Y		No	1000Genomes ExAC gnomAD ClinGen
CA4983841 rs762770294	1135	E>G		No	ExAC gnomAD ClinGen
CA4983840 rs775446646	1136	N>H		No	ExAC gnomAD ClinGen
CA372906179 rs1322443341	1141	Y>C		No	gnomAD ClinGen
rs150801816 CA188798905	1143	I>V		No	ClinGen 1000Genomes
TCGA novel	1144	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372906155 rs1462367917	1145	V>L		No	ClinGen TOPMed
rs1400743257 CA372906066	1150	S>C		No	ClinGen TOPMed
COSM95124 CA4983815 COSM3219620 rs201751722 COSM3219621	1151	R>H	lung central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs201325763 CA4983812 COSM1490164 COSM1490163 COSM456145	1152	G>R	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA372906028 rs1471848912	1153	K>E		No	ClinGen gnomAD
rs780545876 CA4983811	1155	I>M		No	ClinGen ExAC gnomAD
CA372905969 rs1256355256	1156	K>R		No	TOPMed ClinGen
rs973915971 CA188798824	1159	E>K		No	ClinGen TOPMed
rs973915971 CA372905917	1159	E>Q		No	ClinGen TOPMed
COSM1463245 COSM1463246 CA4983807 rs757479662 COSM1463244	1162	D>G	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4983806 rs751793251	1163	E>G		No	ClinGen ExAC gnomAD
COSM1222603 COSM1222605 COSM1222604 CA372905362 CA4983805 rs764232627	1164	M>I	Variant assessed as Somatic; impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs754731641 CA4983804	1165	E>Q		No	ExAC gnomAD ClinGen
CA372904259 rs1449445543	1172	E>K		No	ClinGen TOPMed gnomAD
CA4983776 rs561964160	1173	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4983773 rs201604141	1174	S>P		No	ClinGen ExAC TOPMed gnomAD
CA4983774 rs201604141	1174	S>T		No	ClinGen ExAC TOPMed gnomAD
rs543399765 CA4983771	1175	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs747058765 CA4983770	1175	R>M		No	ExAC TOPMed gnomAD ClinGen
CA4983769 rs576000896	1176	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA4983768 rs772237001	1177	R>C		No	ExAC gnomAD ClinGen
CA4983767 rs763141884	1177	R>H		No	ExAC TOPMed gnomAD ClinGen
CA372904226 COSM1151347 COSM754054 rs763141884 COSM1151346	1177	R>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA4983766 rs779168258	1178	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1178	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755849171 CA4983765	1179	S>N		No	ExAC gnomAD ClinGen
rs750223388 CA4983764	1180	I>M		No	ExAC TOPMed gnomAD ClinGen
rs1565026928 CA372904209	1180	I>N		No	Ensembl ClinGen
CA372904208 rs1565026928	1180	I>T		No	Ensembl ClinGen
CA4983763 rs781067774	1181	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4983762 rs147343445	1182	Y>H		No	ESP ExAC TOPMed gnomAD ClinGen
CA4983760 rs193068274 CA372904193	1183	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144936979 CA4983759	1183	G>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA372904183 rs1281193607	1185	E>Q		No	ClinGen gnomAD
rs1404147807 CA372904171	1186	V>A		No	ClinGen gnomAD
rs759937069 CA4983756	1192	I>V		No	ExAC TOPMed gnomAD ClinGen
rs1427192894 CA372904118	1194	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA372904113 rs1216219846	1195	H>D		No	TOPMed ClinGen
rs761053201 CA372904111	1195	H>P		No	ExAC TOPMed gnomAD ClinGen
CA4983753 rs761053201	1195	H>R		No	ExAC TOPMed gnomAD ClinGen
CA4983751 rs772034230	1198	V>I		No	ClinGen ExAC gnomAD
CA4983747 rs745615839	1201	T>A		No	ClinGen ExAC TOPMed gnomAD
CA4983746 rs780829320	1202	E>K		No	ClinGen ExAC TOPMed gnomAD
CA188793501 rs539801781	1208	D>E		No	ClinGen Ensembl
CA372904029 rs1400992051	1208	D>N		No	ClinGen TOPMed
rs1343092231 CA372904011	1210	H>R		No	TOPMed gnomAD ClinGen
CA4983745 rs757141515	1210	H>Y		No	ExAC TOPMed gnomAD ClinGen
rs751435981 CA4983744	1214	F>Y		No	ClinGen ExAC
CA4983743 rs535699951	1215	T>I		No	1000Genomes ExAC gnomAD ClinGen
rs375972549 CA4983742	1217	K>R		No	ESP ExAC TOPMed gnomAD ClinGen
rs1440008272 CA372903960	1218	Q>K		No	ClinGen gnomAD
rs759239675 CA4983739	1220	Q>R		No	ExAC gnomAD ClinGen
CA372903936 rs1411183359	1221	S>N		No	ClinGen gnomAD
TCGA novel	1225	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs556448489 CA4983737	1226	V>I		No	1000Genomes ExAC gnomAD ClinGen
CA372903878 rs1470468617	1229	V>L		No	ClinGen gnomAD
CA4983736 rs773537752	1230	L>V		No	ClinGen ExAC gnomAD
rs761841492 CA4983733	1232	V>E		No	ClinGen ExAC TOPMed gnomAD
CA4983732 rs774437502	1235	H>P		No	ExAC gnomAD ClinGen
rs1184025257 CA372903833	1236	A>T		No	ClinGen gnomAD
CA372903443 rs1591130567	1239	K>R		No	ClinGen Ensembl
rs199629071 CA4983711	1241	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
rs724159860 CA188789063 COSM142719	1248	D>N	skin [Cosmic]	No	gnomAD ClinGen cosmic curated
CA188789039 rs926439524	1249	P>R		No	TOPMed gnomAD ClinGen
CA372903369 rs772029273	1250	V>L		No	ClinGen ExAC TOPMed gnomAD
COSM3780102 COSM3780103 COSM3780101 rs772029273 CA4983707	1250	V>M	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs543096154 CA4983706	1252	S>P		No	ClinGen 1000Genomes ExAC gnomAD
COSM3382578 rs1489849541 CA372903349 COSM3382576 CA372903348 COSM3382577	1253	M>I	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
rs779054784 CA4983705	1253	M>V		No	ClinGen ExAC TOPMed gnomAD
CA188789016 rs988172508	1254	D>V		No	Ensembl ClinGen
rs1290983688 CA372903336	1255	L>P		No	gnomAD ClinGen
rs754483710 CA4983704	1256	D>N		No	ExAC TOPMed gnomAD ClinGen
rs370994760 CA188789008	1257	P>A		No	ESP TOPMed ClinGen
COSM1110455 COSM1463239 COSM1463238 rs748838568 CA4983703	1257	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA188788984 COSM48720 rs748838568	1257	P>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs370994760 CA188788995	1257	P>S		No	ESP TOPMed ClinGen
rs1213689339 CA372903316	1259	P>T		No	gnomAD ClinGen
CA372903309 rs1272333111	1260	I>N		No	ClinGen gnomAD
CA4983701 rs368896994	1260	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4983700 rs141449316	1261	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4983699 rs148300682	1261	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752003522 CA4983697	1262	D>G		No	ExAC gnomAD ClinGen
rs762979665 CA372903291	1263	E>G		No	ClinGen ExAC TOPMed gnomAD
rs764587066 CA4983696	1263	E>K		No	ExAC gnomAD ClinGen
rs762979665 CA4983695	1263	E>V		No	ClinGen ExAC TOPMed gnomAD
CA4983694 rs375476104	1266	G>A		No	ESP ExAC gnomAD ClinGen
rs1195519946 CA372903244	1270	V>I		No	gnomAD ClinGen
CA372903233 rs1479344867	1271	V>A		No	gnomAD ClinGen
rs771360735 CA188788900	1275	L>F		No	ClinGen Ensembl
rs1489169166 CA372903197	1278	V>I		No	gnomAD ClinGen
CA188788877 rs1002284021	1279	F>L		No	TOPMed gnomAD ClinGen
rs193138542 CA4983690	1287	I>L		No	ClinGen 1000Genomes ExAC
CA372903118 rs1564979317	1290	Y>H		No	Ensembl ClinGen
TCGA novel	1291	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747185538 CA4983590	1297	S>Y		No	ExAC gnomAD ClinGen
CA372902695 rs1480731231	1298	D>E		No	TOPMed ClinGen
CA4983588 rs754699635	1298	D>N		No	ExAC TOPMed gnomAD ClinGen
COSM365910 rs748111632 CA188774965	1299	S>Y	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA188774956 rs570430595	1300	R>G		No	1000Genomes gnomAD ClinGen
rs753661872 CA372902683	1301	K>E		No	ExAC TOPMed ClinGen
rs753661872 CA4983587	1301	K>Q		No	ExAC TOPMed ClinGen
CA4983586 rs779920240	1302	S>N		No	ExAC gnomAD ClinGen
CA4983585 rs756024990	1303	S>I		No	ClinGen ExAC gnomAD
rs756024990 CA188774914	1303	S>N		No	ClinGen ExAC gnomAD
TCGA novel	1303	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4983584 rs750416132	1304	I>T		No	ExAC gnomAD ClinGen
CA372902663 rs1407336366	1304	I>V		No	gnomAD ClinGen
CA188774889 rs61733196	1305	P>L		No	TOPMed ClinGen
CA188774903 rs917532047	1305	P>T		No	ClinGen TOPMed gnomAD
CA4983583 rs144935952	1306	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1263725427 CA372902645	1307	N>D		No	ClinGen TOPMed gnomAD
rs991647347 CA188774885	1308	K>E		No	ClinGen TOPMed
CA372902628 rs1221703490	1309	E>A		No	ClinGen gnomAD
TCGA novel	1309	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3395875 CA372902630 COSM3395877 COSM3395876 rs1267613597	1309	E>K	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA188774884 rs373752314	1310	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA372902619 rs1240958736	1310	I>T		No	ClinGen Ensembl
CA188774883 rs1003125724	1311	P>R		No	ClinGen gnomAD
rs1214286773 CA372902615	1311	P>S	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs533663469 CA4983581	1312	S>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
TCGA novel	1313	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775972121 CA372902593	1314	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA4983579 rs763372683	1314	H>R		No	ClinGen ExAC TOPMed gnomAD
rs770320104 CA4983577	1316	T>A		No	ExAC gnomAD ClinGen
rs1564891123 CA372902584	1316	T>R		No	Ensembl ClinGen
rs1170013772 CA372902549	1321	L>Q		No	ClinGen gnomAD
TCGA novel	1321	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1424143158 COSM1132446 COSM3943069 COSM3943070 CA372902539	1323	R>C	Variant assessed as Somatic; 0.0 impact. oesophagus prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA372902537 rs1172700321	1323	R>H		No	ClinGen gnomAD
CA372902523 CA4983573 rs747115658	1325	N>K		No	ExAC gnomAD ClinGen
CA4983572 rs773381158	1327	Q>E		No	ClinGen ExAC gnomAD
rs772305581 CA4983571	1329	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4983514 rs753474751	1330	G>V		No	ClinGen ExAC gnomAD
rs1165031907 CA372912432	1331	M>T		No	ClinGen TOPMed
CA372912427 rs1294993838	1332	A>S		No	ClinGen gnomAD
rs780464192 CA4983513	1332	A>V		No	ClinGen ExAC gnomAD
rs201582858 CA4983512	1333	S>N		No	ExAC TOPMed gnomAD ClinGen
CA4983510 CA4983509 rs761845336	1333	S>R		No	ClinGen ExAC gnomAD
CA4983508 rs751663957	1334	H>Q		No	ExAC ClinGen
rs201745574 CA188818960	1337	I>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA372912395 rs1427846342	1337	I>R		No	ClinGen gnomAD
rs201745574 CA4983506	1337	I>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA372912390 rs1198182178	1338	P>R		No	gnomAD ClinGen
rs775630094 COSM3782297 COSM3782296 COSM3782298 CA4983505	1338	P>T	pancreas [Cosmic]	No	ExAC ClinGen cosmic curated
CA4983503 rs376447989	1339	I>M		No	ClinGen ESP ExAC gnomAD
CA4983502 rs773244173	1340	L>F		No	ExAC gnomAD ClinGen
CA372912374 rs1456256399	1341	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA372912367 rs1257232743	1342	L>V		No	gnomAD ClinGen
TCGA novel	1343	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA188818935 rs868210901	1343	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA4983499 rs778457288	1344	D>E		No	ClinGen ExAC gnomAD
rs748144748 CA4983500	1344	D>Y		No	ExAC gnomAD ClinGen
CA372912348 rs1168527212	1345	H>R		No	ClinGen TOPMed gnomAD
CA372912349 rs1564799707	1345	H>Y		No	ClinGen Ensembl
CA4983498 rs373554730	1346	I>L		No	1000Genomes ESP ExAC gnomAD ClinGen
rs748957002 CA4983497	1346	I>M		No	ExAC TOPMed gnomAD ClinGen
CA188818901 rs991528751	1346	I>T		No	ClinGen gnomAD
CA188818908 rs373554730	1346	I>V		No	1000Genomes ESP ExAC gnomAD ClinGen
CA4983495 rs140452611	1349	L>V		No	ESP ExAC gnomAD ClinGen
rs1404460582 CA372912308	1351	A>G		No	TOPMed gnomAD ClinGen
rs1273974524 CA372912311	1351	A>T		No	TOPMed ClinGen
TCGA novel	1351	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372912301 rs1172572861	1352	N>S		No	ClinGen gnomAD
CA372912292 rs1211537912	1353	D>G		No	ClinGen TOPMed
CA372912296 rs1478387796	1353	D>H		No	gnomAD ClinGen
rs781629901 CA4983493	1354	N>S		No	ExAC gnomAD ClinGen
CA372912271 rs1439272694 COSM1263419 COSM1263421 COSM1263420	1356	K>R	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1439272694 CA372912272	1356	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4983492 rs757743320	1357	F>L		No	ClinGen ExAC gnomAD
rs564541310 CA4983491	1358	S>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201031030 CA188818864	1358	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1473454661 CA372912233	1362	E>K		No	ClinGen TOPMed
CA188792638 rs1046611880	1364	I>M		No	TOPMed gnomAD ClinGen
rs762480866 CA4983463	1364	I>V		No	ExAC TOPMed gnomAD ClinGen
CA372908668 rs1487661697	1365	D>E		No	ClinGen TOPMed gnomAD
TCGA novel	1366	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1263318118 CA372908611	1369	Q>H		No	gnomAD ClinGen
rs1449466901 CA372908574	1372	W>L		No	ClinGen gnomAD
rs1229178919 CA372908562	1373	E>G		No	ClinGen gnomAD
CA372908566 rs954240920	1373	E>K		No	ClinGen TOPMed gnomAD
rs954240920 CA188792637	1373	E>Q		No	ClinGen TOPMed gnomAD
rs774842656 CA4983462	1377	L>S		No	ExAC ClinGen
rs901805935 CA188792615	1382	P>R		No	Ensembl ClinGen
CA372908377 rs1349454023	1387	A>E		No	gnomAD ClinGen
COSM1735502 rs778293739 CA4983456 COSM1735500 COSM1735501	1388	N>S	pancreas [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
rs146844299 CA4983454	1391	A>T		No	ClinGen 1000Genomes ExAC
CA372908321 rs1168914682	1391	A>V		No	gnomAD ClinGen
CA372908308 rs1564575791	1392	Y>C		No	Ensembl ClinGen
CA372908280 rs1187703316	1394	H>L		No	ClinGen gnomAD
CA372908251 rs754058497	1396	R>G		No	ExAC gnomAD ClinGen
rs781289256 CA372908237	1396	R>L		No	ExAC TOPMed gnomAD ClinGen
CA4983450 COSM1569905 COSM1569906 COSM1569904 rs781289256	1396	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs751337528 CA4983448	1399	L>V		No	ExAC TOPMed gnomAD ClinGen
rs560862651 CA188792544	1401	A>P		No	ExAC gnomAD ClinGen
rs560862651 CA4983445	1401	A>T		No	ExAC gnomAD ClinGen
rs757250445 CA4983444	1402	I>T		No	ClinGen ExAC TOPMed gnomAD
CA188792540 rs1055567731	1402	I>V		No	TOPMed ClinGen
rs144816539	1404	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA4983425 rs758994174	1405	I>N		No	ClinGen ExAC gnomAD
rs1407442542 CA372905281	1409	D>E		No	gnomAD ClinGen
CA188774478 rs1041912506	1410	Y>F		No	gnomAD ClinGen
CA4983423 rs375807121	1412	N>D		No	ESP ExAC TOPMed gnomAD ClinGen
COSM218992 CA4983422 COSM1158824 COSM1158825 rs760240241	1414	N>S	pancreas [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA372905251 rs760240241	1414	N>T		No	ExAC TOPMed gnomAD ClinGen
CA188774471 rs893240577	1415	Y>C		No	TOPMed gnomAD ClinGen
CA372905247 rs1378095289	1415	Y>H		No	ClinGen gnomAD
rs772975212 CA4983421	1416	I>V		No	ExAC TOPMed gnomAD ClinGen
rs772267400 CA4983420	1417	D>H		No	ClinGen ExAC gnomAD
rs1564475749 CA372905182	1424	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs769310148 CA4983417	1425	Y>C	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
TCGA novel	1426	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1564475538 CA372905146	1427	A>E		No	Ensembl ClinGen
rs1351682446 CA372905150	1427	A>T		No	ClinGen gnomAD
CA372905138 rs1285563381	1428	T>A		No	ClinGen gnomAD
CA188774418 rs866195026	1430	G>E		No	ClinGen Ensembl
CA372905111 rs1241211819	1430	G>R		No	ClinGen gnomAD
rs1209242135 CA372905102	1431	S>T		No	TOPMed ClinGen
COSM1161789 COSM1161788 COSM1161787 rs1589286489 CA372905043	1435	T>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	Ensembl ClinGen cosmic curated
CA188774358 rs746067788	1436	F>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel CA372905035 rs746067788	1436	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA ExAC TOPMed gnomAD
CA4983413 rs746067788	1436	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA372905008 rs1416079686	1438	D>E		No	ClinGen gnomAD
TCGA novel	1440	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1441	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781477510 CA4983412	1441	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1157648219 CA372904936	1442	M>I		No	ClinGen TOPMed gnomAD
CA372904927 rs1419881473	1443	I>L		No	TOPMed gnomAD ClinGen
CA372904928 rs1419881473	1443	I>V		No	TOPMed gnomAD ClinGen
rs868721731 CA188774333	1444	W>*		No	ClinGen Ensembl
CA188774309 COSM1700876 rs866731155 COSM1700874 COSM1700875	1445	E>K	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs752508898 CA4983410	1447	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs758084050 CA4983411	1447	R>W		No	ExAC gnomAD ClinGen
CA4983409 rs778726159	1448	S>N		No	ExAC gnomAD ClinGen
rs563230694 CA4983408	1450	T>A		No	ClinGen 1000Genomes ExAC gnomAD
COSM1741822 CA4983407 COSM1741821 rs753837487 COSM1741823	1451	V>A	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1190768340 CA372904811	1451	V>L		No	ClinGen gnomAD
rs544592777 CA4983405	1453	M>I		No	1000Genomes ExAC gnomAD ClinGen
TCGA novel	1453	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs971884436 CA188774218	1453	M>T		No	ClinGen gnomAD
CA372904757 rs1242339856	1454	M>I		No	gnomAD ClinGen
CA372904743 rs1320957225	1455	T>S		No	ClinGen TOPMed gnomAD
rs370408660 CA188774216	1457	L>V		No	ClinGen ESP
TCGA novel	1458	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372914895 rs1196357775	1463	V>L		No	gnomAD ClinGen
CA372914896 rs1196357775	1463	V>M		No	gnomAD ClinGen
CA4983371 rs768372029	1466	D>E		No	ExAC gnomAD ClinGen
CA4983372 rs773436277	1466	D>G		No	ExAC gnomAD ClinGen
rs960334152 CA188816603	1467	Q>H		No	ClinGen Ensembl
rs557782131 CA188816599	1468	Y>N		No	ClinGen 1000Genomes
rs1305264431 CA372914840 COSM95123	1471	S>G	lung [Cosmic]	No	gnomAD ClinGen cosmic curated
CA4983370 rs749139770	1471	S>N		No	ExAC TOPMed gnomAD ClinGen
CA372914834 rs1376695159	1471	S>R		No	gnomAD ClinGen
rs926524531 CA188816574	1474	T>P		No	TOPMed ClinGen
CA4983368 rs756058132	1476	T>N		No	ExAC TOPMed gnomAD ClinGen
rs140154234 CA4983369	1476	T>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA4983366 rs724159862	1477	H>D		No	ClinGen ExAC TOPMed gnomAD
CA188816551 rs724159862 COSM142721	1477	H>Y	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs751203177 CA4983364	1478	G>R		No	ExAC TOPMed gnomAD ClinGen
rs571411218 CA4983362	1480	V>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA188816535 rs753080783	1483	T>K		No	ClinGen ExAC TOPMed gnomAD
CA4983361 rs753080783	1483	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765558122 CA4983360	1484	L>P		No	ExAC gnomAD ClinGen
CA372914748 rs2133788	1486	D>G		No	gnomAD ClinGen
rs2133788 CA188816519	1486	D>V		No	gnomAD ClinGen
CA4983359 rs760081989	1487	T>N		No	ClinGen ExAC gnomAD
CA4983357 rs192508712	1489	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1280458865 CA372914723	1490	L>R		No	gnomAD ClinGen
rs369684559 CA4983356	1491	A>T		No	ESP ExAC gnomAD ClinGen
rs111947284 CA188816499	1492	T>A		No	ClinGen gnomAD
rs771461761 CA188816495	1494	C>S		No	ClinGen Ensembl
CA188816487 rs143393731	1495	V>F		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs143393731 CA4983355	1495	V>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs772303653 CA4983354	1496	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA372914675 rs1564390961	1498	F>L		No	ClinGen Ensembl
CA4983352 rs775326809	1499	A>G		No	ClinGen ExAC gnomAD
rs147772738 CA372914658	1499	A>S		No	ClinGen ESP TOPMed gnomAD
CA188816478 rs147772738	1499	A>T		No	ClinGen ESP TOPMed gnomAD
CA372914656 rs775326809	1499	A>V		No	ClinGen ExAC gnomAD
CA4983351 rs144200611	1502	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA372914507 rs1214730491	1504	G>C		No	gnomAD ClinGen
rs1337096946 CA372914488	1505	S>L		No	TOPMed ClinGen
rs1276939463 CA372914435	1508	K>N		No	ClinGen gnomAD
TCGA novel	1510	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1272115836 CA372914400	1511	V>E		No	gnomAD ClinGen
rs1362811358 CA372914402	1511	V>L		No	gnomAD ClinGen
CA4983327 rs762070297	1514	F>L		No	ExAC TOPMed gnomAD ClinGen
CA372914338 rs1461777092	1515	Q>H		No	ClinGen TOPMed gnomAD
CA4983326 rs747777098	1515	Q>R		No	ExAC gnomAD ClinGen
TCGA novel	1518	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4983323 rs749675538	1518	A>T		No	ClinGen ExAC TOPMed gnomAD
rs147319681 CA4983322	1518	A>V		No	ClinGen ESP ExAC gnomAD
CA372914283 rs1476808416	1519	W>S		No	gnomAD ClinGen
rs1389754768 CA372914263	1520	P>L		No	ClinGen TOPMed
CA4983319 rs767574072	1520	P>S		No	ExAC gnomAD ClinGen
CA372914224 rs1470155427	1523	G>R		No	gnomAD ClinGen
CA372914193 rs1256692385	1525	P>L		No	ClinGen gnomAD
CA372914188 rs1198616512	1526	E>A		No	gnomAD ClinGen
CA4983317 rs751740570	1527	H>Q		No	ClinGen ExAC gnomAD
rs376839323 CA188816062	1527	H>Y		No	ESP TOPMed ClinGen
rs764257459 CA4983316	1528	P>S		No	ExAC gnomAD ClinGen
CA4983315 rs763280707	1529	T>A		No	ClinGen ExAC gnomAD
CA372914139 rs1402915699	1530	P>L		No	TOPMed ClinGen
rs1413989131 CA372914099	1533	A>G		No	ClinGen TOPMed
rs200669619 CA4983314	1536	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1463196 COSM1463195 rs142960593 COSM1463194 CA4983312	1536	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs142960593 COSM48719 CA4983313	1536	R>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs773293867 CA4983311	1537	R>I		No	ExAC gnomAD ClinGen
rs1355062501 CA372914024	1539	K>R		No	gnomAD ClinGen
COSM1700864 COSM1700866 CA188816027 COSM1700865 rs556078617	1540	T>I	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA372914009 rs556078617	1540	T>N		No	ClinGen gnomAD
rs1171833795 CA372914002	1541	C>R		No	ClinGen TOPMed gnomAD
rs1242333397 CA372913969	1543	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs747641694 CA4983309	1543	P>S		No	ClinGen ExAC TOPMed
rs867584511 CA188815985	1545	D>G		No	Ensembl ClinGen
rs144763077 CA4983306	1545	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs144763077 CA4983307	1545	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA372913938 rs915536806	1546	A>G		No	ClinGen gnomAD
COSM1463192 CA188815983 rs915536806 COSM1463191 COSM1463190	1546	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	1548	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372913899 rs1481214631	1549	M>I		No	ClinGen gnomAD
rs544986774 CA188815981	1549	M>V		No	ClinGen Ensembl
CA372913883 rs1564384162	1551	V>A		No	ClinGen Ensembl
CA372913844 rs1235110923	1554	S>G		No	ClinGen TOPMed gnomAD
CA4983277 rs377463668	1555	A>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs1287979283 CA372909458	1559	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs373544487 CA4983274	1559	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs767385335 CA4983273	1561	G>A		No	ClinGen ExAC gnomAD
rs149377212 CA188779630	1564	I>F		No	ESP ExAC TOPMed gnomAD ClinGen
rs149377212 CA4983271	1564	I>V		No	ESP ExAC TOPMed gnomAD ClinGen
COSM142722 CA188779622 rs724159863	1565	V>I	skin [Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated
CA4983268 rs762457203	1566	I>T		No	ExAC gnomAD ClinGen
rs954644962 CA188779610	1566	I>V		No	TOPMed ClinGen
CA372909321 rs1360063110	1567	D>V		No	ClinGen TOPMed
TCGA novel	1569	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372909293 rs1205986840	1569	M>T		No	gnomAD ClinGen
rs775086992 CA4983267	1569	M>V		No	ExAC TOPMed gnomAD ClinGen
rs146073475 CA4983264	1570	L>F		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs771380815 CA4983262	1573	I>M		No	ClinGen ExAC TOPMed gnomAD
CA372909216 rs1375336187	1573	I>R		No	TOPMed ClinGen
rs747414574 CA4983261	1574	K>T		No	ExAC gnomAD ClinGen
rs1234575426 CA372909182	1575	H>R		No	gnomAD ClinGen
rs753625198 CA372909117	1578	T>I		No	ClinGen gnomAD
rs753625198 CA188779532	1578	T>N		No	ClinGen gnomAD
rs1308077942 CA372909129	1578	T>P		No	ClinGen TOPMed
CA372909114 rs1382400751	1579	V>I		No	ClinGen gnomAD
CA372909100 rs1292093096	1581	I>V		No	gnomAD ClinGen
rs1461254821 CA372909019	1586	T>N		No	gnomAD ClinGen
CA372909022 rs1461254821	1586	T>S		No	gnomAD ClinGen
CA188779467 rs931142495	1590	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA372908890 rs1372535276	1593	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA188779464 rs920031806	1594	Y>D		No	TOPMed gnomAD ClinGen
rs1450503990 CA372908855	1595	M>I		No	ClinGen TOPMed
CA372908869 rs1430462871	1595	M>V		No	gnomAD ClinGen
rs754157644 CA188779458	1596	V>I		No	ExAC gnomAD ClinGen
rs754157644 CA4983255	1596	V>L		No	ExAC gnomAD ClinGen
rs866497340 CA188779456	1597	Q>*		No	ClinGen Ensembl
CA372908832 rs1221542642	1598	T>A		No	TOPMed ClinGen
TCGA novel	1601	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780837663 CA4983254	1603	I>V		No	ExAC gnomAD ClinGen
rs1379942442 CA372908784	1604	F>C		No	TOPMed ClinGen
rs1215534366 CA372908776	1605	I>M		No	gnomAD ClinGen
CA4983253 rs757090499	1605	I>V		No	ClinGen ExAC gnomAD
rs751388791 CA4983252	1606	H>N		No	ExAC gnomAD ClinGen
rs1250220732 CA372908768	1607	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA4983251 rs764052933	1607	D>V		No	ExAC gnomAD ClinGen
CA372908757 rs1300892094	1608	A>G		No	ClinGen gnomAD
CA188779390 rs895259059	1612	A>S		No	ClinGen Ensembl
CA372908724 rs1328382095	1614	T>S		No	gnomAD ClinGen
rs1419892266 CA372908712	1615	C>F		No	ClinGen TOPMed gnomAD
rs940076122 CA188779377	1615	C>R		No	TOPMed ClinGen
rs1419892266 CA372908714	1615	C>S		No	ClinGen TOPMed gnomAD
rs1419892266 CA372908715	1615	C>Y		No	ClinGen TOPMed gnomAD
rs928640314 CA188779371	1616	G>A		No	ClinGen TOPMed gnomAD
rs752185780 CA372908693	1617	N>D		No	ExAC gnomAD ClinGen
rs764791104 CA4983248	1617	N>S		No	ClinGen ExAC gnomAD
rs752185780 CA4983249	1617	N>Y		No	ExAC gnomAD ClinGen
CA4983246 rs776356704	1619	E>K		No	ExAC gnomAD ClinGen
CA372908657 rs1173297769	1620	V>M		No	gnomAD ClinGen
rs1330364871 CA372908642	1621	P>T		No	ClinGen TOPMed
CA4983244 rs761130552	1623	R>G		No	ExAC TOPMed gnomAD ClinGen
CA4983243 rs773553807	1623	R>T		No	ClinGen ExAC gnomAD
rs906750755 CA188779313	1626	Y>C		No	ClinGen Ensembl
CA372908580 rs1195869451	1626	Y>N		No	ClinGen gnomAD
rs182825432 CA4983240	1627	A>S		No	1000Genomes ExAC gnomAD ClinGen
CA372908558 rs1454281288	1627	A>V		No	TOPMed ClinGen
CA188779312 rs1043038219	1629	I>F		No	gnomAD ClinGen
TCGA novel	1630	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768923548 CA4983239	1633	T>R		No	ClinGen ExAC gnomAD
rs1237339183 CA372908441	1634	Q>H		No	ClinGen gnomAD
TCGA novel	1634	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1564100838 CA372908434	1635	I>V		No	ClinGen Ensembl
rs41281783 CA372908401	1637	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs41281783 CA4983238	1637	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369304072 CA4983236	1638	G>E		No	ESP ExAC TOPMed gnomAD ClinGen
CA4983235 rs369304072	1638	G>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs138915427 CA372908376 CA4983234	1639	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs893491196 CA188779225	1640	N>T		No	gnomAD ClinGen
rs1237998566 CA372908341	1642	T>I		No	ClinGen TOPMed
rs866358279 CA188779211	1643	G>R		No	ClinGen Ensembl
CA372908312 rs1207163405	1645	E>K		No	ClinGen TOPMed gnomAD
CA372908298 rs764664438	1646	L>F		No	ExAC TOPMed gnomAD ClinGen
CA4983231 rs764664438	1646	L>V		No	ExAC TOPMed gnomAD ClinGen
CA4983228 rs766088715	1647	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA372908287 rs766088715	1647	E>Q		No	ClinGen ExAC gnomAD
CA372908124 rs1318648410	1650	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs201344661 CA4983197	1650	R>H		No	ExAC TOPMed gnomAD ClinGen
CA4983195 rs759691127	1652	A>G		No	ClinGen ExAC gnomAD
rs759691127 CA4983196	1652	A>V		No	ClinGen ExAC gnomAD
CA372908088 rs1461477398	1653	S>C		No	ClinGen gnomAD
rs1179490378 CA372908085	1653	S>I		No	gnomAD ClinGen
CA372908084 rs1415277335	1653	S>R		No	ClinGen gnomAD
rs1004033535 CA188778405	1657	H>Y		No	TOPMed ClinGen
rs1474846185 CA372908051	1658	T>S		No	ClinGen gnomAD
CA372908044 rs1488224973	1659	S>L		No	ClinGen TOPMed
rs1195779630 CA372908040	1660	R>K		No	gnomAD ClinGen
CA4983193 rs771808629	1660	R>S		No	ExAC gnomAD ClinGen
CA4983192 rs376711468	1663	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA188778387 rs907060690	1665	N>Y		No	ClinGen TOPMed gnomAD
CA372908001 rs1175706111	1666	L>V		No	TOPMed ClinGen
CA4983191 rs778721966	1667	P>S		No	ExAC gnomAD ClinGen
CA4983189 COSM3413756 COSM3413758 COSM3413757 rs749242026	1671	F>L	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA372907954 rs1272204432	1672	K>N		No	gnomAD ClinGen
rs779612057 CA4983188	1672	K>R		No	ExAC gnomAD ClinGen
CA188778321 rs755582635	1674	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755582635 CA4983187	1674	R>L		No	ClinGen ExAC TOPMed gnomAD
rs138775068 CA188778323	1674	R>S		No	ESP gnomAD ClinGen
CA4983185 rs781011162	1675	L>H		No	ClinGen ExAC TOPMed gnomAD
CA372907923 rs747517194	1678	I>L		No	ClinGen ExAC TOPMed gnomAD
CA4983182 rs747517194	1678	I>V		No	ClinGen ExAC TOPMed gnomAD
rs763500246 CA4983181	1679	M>K		No	ClinGen ExAC TOPMed gnomAD
CA188778261 rs375669430 CA188778260	1679	M>L		No	ClinGen 1000Genomes ESP TOPMed
rs1452929744 CA372907908	1680	P>R		No	TOPMed gnomAD ClinGen
CA4983180 COSM1700859 COSM1700860 COSM1700861 rs199674759	1680	P>S	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs759637903 CA4983178	1681	Y>H		No	ExAC gnomAD ClinGen
rs1461103130 CA372907889	1683	S>A		No	Ensembl ClinGen
rs771113713 CA4983176	1685	R>S		No	ExAC gnomAD ClinGen
rs1042005549 CA188778221	1686	V>I		No	ClinGen TOPMed
COSM142724 CA188778207 rs724159865	1690	P>L	skin [Cosmic]	No	Ensembl ClinGen cosmic curated
rs724159864 COSM142723 CA188778208	1690	P>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs724159864 CA4983175	1690	P>T		No	ClinGen ExAC TOPMed gnomAD
rs774183109 CA4983174	1691	I>V		No	ExAC gnomAD ClinGen
CA372907835 rs1347452833	1692	R>H		No	ClinGen gnomAD
rs1369641859 COSM1700856 COSM1700854 COSM1700855 CA372907811	1696	G>R	skin [Cosmic]	No	gnomAD ClinGen cosmic curated
rs1393109549 CA372907802	1697	S>Y		No	ClinGen gnomAD
CA372907777 rs1274172800	1701	N>H		No	Ensembl ClinGen
rs779868747 CA4983171	1701	N>S		No	ExAC gnomAD ClinGen
rs1588123589 CA372907766	1702	A>G		No	ClinGen Ensembl
CA4983170 rs769379370	1703	S>N		No	ExAC TOPMed gnomAD ClinGen
COSM48718 CA372907756 rs1354653576	1703	S>R	lung [Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated
CA372907761 rs769379370	1703	S>T		No	ExAC TOPMed gnomAD ClinGen
rs141770150 CA4983169	1704	F>C		No	ESP ExAC TOPMed gnomAD ClinGen
rs912067042 CA188778173	1704	F>I		No	ClinGen TOPMed
CA188778156 rs868472104	1705	I>M		No	ClinGen Ensembl
rs201441177 CA4983168	1705	I>T		No	ExAC TOPMed gnomAD ClinGen
CA188778148 rs724159861 COSM142720	1707	G>R	skin [Cosmic]	No	Ensembl ClinGen cosmic curated
rs1166836620 CA372907686	1708	Y>H		No	TOPMed ClinGen
TCGA novel	1709	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372907488 rs1485033877	1713	A>T		No	gnomAD ClinGen
rs1588109499 CA372907481	1713	A>V		No	Ensembl ClinGen
rs755466891 CA4983141	1716	A>G		No	ExAC gnomAD ClinGen
CA188777310 rs200354236	1716	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1329770480 CA372907425	1717	T>I		No	gnomAD ClinGen
COSM1222620 COSM1222621 rs1355211431 CA372907396 COSM1222622	1719	G>W	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA4983139 rs766380019	1721	L>S		No	ClinGen ExAC gnomAD
rs750609422 COSM224703 CA4983137	1724	T>I	skin [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
CA188777262 rs376310467	1725	T>I		No	ESP TOPMed gnomAD ClinGen
CA188777278 rs376310467	1725	T>S		No	ESP TOPMed gnomAD ClinGen
rs1432019125 CA372907306	1727	D>E		No	TOPMed gnomAD ClinGen
rs762133653 CA4983135	1728	F>L		No	ExAC gnomAD ClinGen
rs1163469366 CA372907291	1729	W>L		No	ClinGen gnomAD
CA4983133 rs201651279	1730	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1555293 COSM1555291 CA4983134 rs775122610 COSM1555292	1730	R>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA372907278 rs1167029424	1731	M>I		No	gnomAD ClinGen
rs759538026 CA4983132	1732	L>F		No	ClinGen ExAC gnomAD
CA372907263 rs1185699346	1733	W>C		No	gnomAD ClinGen
CA372907250 rs1465219560	1735	H>P		No	TOPMed gnomAD ClinGen
rs770520673 CA4983130	1735	H>Q		No	ExAC gnomAD ClinGen
CA372907249 rs1465219560	1735	H>R		No	TOPMed gnomAD ClinGen
CA372907216 rs1334093966	1740	V>A		No	ClinGen gnomAD
CA4983128 rs772821345	1741	V>A		No	ClinGen ExAC gnomAD
rs774573223 CA188777221	1741	V>L		No	ClinGen Ensembl
rs771603044 CA4983127	1743	L>F		No	ClinGen ExAC TOPMed gnomAD
CA372907191 rs1305395989	1744	T>S		No	gnomAD ClinGen
CA188777162 rs562678468	1746	L>V		No	1000Genomes ClinGen
CA372907175 COSM393064 rs1324340491	1747	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs553232071 CA4983124	1747	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs553232071 CA372907173	1747	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4983123 rs749736746	1749	M>R		No	ClinGen ExAC TOPMed gnomAD
CA372907160 rs749736746	1749	M>T		No	ClinGen ExAC TOPMed gnomAD
CA372907163 rs1295299360	1749	M>V		No	ClinGen TOPMed gnomAD
CA372907154 rs1372695674	1750	G>S		No	gnomAD ClinGen
CA372907148 rs1171443733	1751	R>K		No	ClinGen gnomAD
rs1451594870 CA372907145	1751	R>S		No	gnomAD ClinGen
CA4983093 rs753666810	1753	K>I		No	ClinGen ExAC gnomAD
rs1413673086 CA372906632	1755	H>D		No	ClinGen gnomAD
rs1446928744 CA372906612	1756	Q>K		No	ClinGen gnomAD
CA4983091 rs760526678	1761	E>Q		No	ExAC gnomAD ClinGen
CA4983089 rs374969402	1762	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA4983088 rs374969402	1762	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	1762	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372906478 rs1481966365	1764	A>V		No	TOPMed ClinGen
TCGA novel	1765	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148036640 CA4983086	1767	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs775815267 CA188774975	1769	F>I		No	ExAC gnomAD ClinGen
rs775815267 CA4983084	1769	F>L		No	ExAC gnomAD ClinGen
CA372906394 rs1442662076	1769	F>S		No	gnomAD ClinGen
rs1472293809 CA372906352	1774	M>L		No	TOPMed ClinGen
rs770258284 CA4983083	1775	A>T		No	ExAC gnomAD ClinGen
CA4983081 rs139059052	1776	E>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1777	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1332822916 CA372906321	1778	N>S		No	gnomAD ClinGen
CA4983079 rs747059417	1780	P>S		No	ClinGen ExAC gnomAD
rs1335864090 CA372906253	1787	F>L		No	gnomAD ClinGen
rs1380382010 CA372906230	1791	D>Y		No	gnomAD ClinGen
CA372903793 rs1303270743	1795	G>R		No	ClinGen TOPMed
rs1436531732 CA372903777	1797	S>F		No	ClinGen TOPMed gnomAD
rs1436531732 CA372903776 COSM373362	1797	S>Y	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA188765467 rs763525789	1798	R>*		No	ExAC gnomAD ClinGen
CA4983041 rs763525789	1798	R>G		No	ExAC gnomAD ClinGen
COSM1463163 COSM1463165 COSM1463164 CA4983039 rs367558329	1798	R>L	large_intestine [Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated
CA4983040 COSM72348 rs367558329	1798	R>Q	ovary Variant assessed as Somatic; 0.0 impact. prostate [Cosmic, NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs1370795762 CA372903766	1800	V>I		No	ClinGen TOPMed gnomAD
CA372903744 rs1587823864	1803	F>V		No	Ensembl ClinGen
CA4983038 rs764915546	1804	Q>H		No	ExAC gnomAD ClinGen
rs1170874875 CA372903733	1804	Q>L		No	gnomAD ClinGen
CA4983037 rs759164648	1806	T>A		No	ClinGen ExAC TOPMed
CA188765397 rs200702025	1806	T>I		No	Ensembl ClinGen
rs1192328434 CA372903703	1808	W>C		No	TOPMed gnomAD ClinGen
rs1483502370 CA372903681	1811	Q>H		No	gnomAD ClinGen
rs373755531 CA372903677	1812	G>A		No	ESP ExAC TOPMed gnomAD ClinGen
rs373755531 CA4983035	1812	G>E		No	ESP ExAC TOPMed gnomAD ClinGen
rs373755531 CA372903676	1812	G>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA4983033 rs773870035	1814	P>A		No	ExAC TOPMed gnomAD ClinGen
CA4983032 rs772231480	1814	P>R		No	ExAC gnomAD ClinGen
rs773870035 CA372903668	1814	P>S		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	1817	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147793450 CA4983030	1817	G>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA4983029 rs768898379	1819	G>V		No	ExAC TOPMed gnomAD ClinGen
rs1323249763 CA372903627	1820	F>L		No	ClinGen TOPMed
rs749531044 CA4983028	1820	F>V		No	ExAC TOPMed gnomAD ClinGen
CA372903611 rs1433215191	1823	F>I		No	gnomAD ClinGen
rs1358910068 CA372903607	1823	F>S		No	gnomAD ClinGen
rs1177261686 CA372903602	1824	I>V		No	gnomAD ClinGen
CA188765284 rs868831433	1825	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs770713312 CA4983025	1825	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs777707392 CA4983023	1828	H>L		No	ClinGen ExAC gnomAD
rs777707392 CA372903574	1828	H>R		No	ClinGen ExAC gnomAD
rs778346779 CA4983020	1832	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs778346779 CA188765254	1832	E>Q		No	ExAC TOPMed gnomAD ClinGen
rs373521015 CA188765249	1837	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1837	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1018594636 CA188765207	1841	S>L		No	TOPMed ClinGen
rs796251378 CA188765187	1843	H>L		No	ClinGen TOPMed
CA372903470 rs147553155 CA4983015	1843	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs796251378 CA188765204	1843	H>R		No	ClinGen TOPMed
rs768104833 CA4983014	1844	C>*		No	ClinGen ExAC
CA372903464 rs1329294346	1844	C>F		No	ClinGen gnomAD
rs1554702923 CA918405818	1844	C>I*		No	ClinGen Ensembl
rs768104833 CA372903463	1844	C>W		No	ClinGen ExAC
rs748716978	1845	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs866543923 CA188765166	1845	S>C		No	ClinGen gnomAD
CA188765153 rs200157286	1845	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748716978 CA4982971	1845	S>R		No	ClinGen ExAC TOPMed gnomAD
CA4983013 rs200157286	1845	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1555308 rs141403124 COSM1555309 COSM1555307 CA4982969	1846	A>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA4982967 rs745582718	1848	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA372903019 rs1195271322	1849	G>R		No	TOPMed ClinGen
rs757572692 CA4982965	1849	G>V		No	ClinGen ExAC gnomAD
CA372903014 rs1460608894	1850	R>K		No	ClinGen gnomAD
rs200956455 CA188752123	1851	T>S		No	ClinGen 1000Genomes TOPMed
rs752052315 CA4982963	1852	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1587307133 CA372902994	1853	V>G		No	Ensembl ClinGen
rs1391915097 CA372902986	1854	F>L		No	gnomAD ClinGen
rs1186083092 CA372902985	1855	I>V		No	TOPMed ClinGen
rs764537367 CA4982962	1856	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1196612596 CA372902976	1856	T>S		No	gnomAD ClinGen
CA188752057 rs1013575329	1859	I>V		No	TOPMed ClinGen
TCGA novel	1861	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1344813023 CA372902938	1862	E>G		No	gnomAD ClinGen
CA4982959 rs372015394	1862	E>Q		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	1865	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4982957 rs776855522	1866	Y>C		No	ExAC TOPMed gnomAD ClinGen
rs867857327 CA188752027	1868	G>V		No	ClinGen Ensembl
rs760402372 CA188752022	1869	V>G		No	ClinGen Ensembl
CA4982954 rs774243888	1869	V>I		No	ClinGen ExAC gnomAD
CA4982955 rs774243888	1869	V>L		No	ClinGen ExAC gnomAD
rs1350074868 CA372902878	1871	D>G		No	ClinGen gnomAD
CA4982951 rs775133488	1874	Q>H		No	ExAC gnomAD ClinGen
CA372902841 rs1436122622	1876	V>G		No	ClinGen TOPMed
rs537381689 CA4982949	1877	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA188751998 rs866752200	1878	M>T		No	gnomAD ClinGen
rs780727316 CA4982948	1880	R>K		No	ClinGen ExAC gnomAD
CA372902813 rs1216789756	1880	R>S		No	Ensembl ClinGen
rs1177588283 CA372902806	1882	Q>K		No	ClinGen gnomAD
rs774024691 CA188751993	1882	Q>L		No	ClinGen TOPMed gnomAD
CA4982946 rs747302391	1883	R>L		No	ClinGen ExAC gnomAD
rs1201774600 CA372902793	1884	P>S		No	ClinGen gnomAD
rs778246855 CA4982945	1886	M>T		No	ExAC gnomAD ClinGen
rs1483846960 CA372902782	1886	M>V		No	gnomAD ClinGen
CA372902772 rs1200247931	1887	V>E		No	TOPMed gnomAD ClinGen
TCGA novel	1888	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs977043985 CA188751989	1889	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
rs1346309174 CA372902759	1889	T>S		No	gnomAD ClinGen
CA4982943 rs753209923	1890	E>K		No	ExAC TOPMed gnomAD ClinGen
rs753209923 CA372902756	1890	E>Q		No	ExAC TOPMed gnomAD ClinGen
rs770481358 CA372902468	1892	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs569093802 CA188750008	1892	Q>K		No	ClinGen Ensembl
CA372902453 rs1449978600	1894	Q>L		No	ClinGen gnomAD
TCGA novel	1894	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1338030158 CA372902446	1895	F>Y		No	gnomAD ClinGen
CA188749991 rs200024938	1896	S>T		No	ClinGen 1000Genomes TOPMed
rs1199229427 CA372902433	1897	Y>C		No	ClinGen TOPMed
CA188749981 COSM1263413 COSM1263414 COSM1263415 rs200610422	1898	R>H	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
CA188749977 rs200610422	1898	R>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs1587215330 CA372902421	1899	A>V		No	ClinGen Ensembl
CA4982909 rs748481193	1900	A>S		No	ExAC TOPMed gnomAD ClinGen
rs748481193 COSM4149502 COSM4149503 COSM4149504 CA4982908	1900	A>T	ovary [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
rs750737448 CA188749966	1900	A>V		No	ClinGen Ensembl
rs769140839 CA4982906	1901	L>V		No	ClinGen ExAC
COSM754115 COSM1151337 CA4982905 COSM1151336 rs139384612	1902	E>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1563853356 CA372902393	1905	G>S		No	Ensembl ClinGen
rs781674096 CA188749944	1910	Y>C		No	ClinGen TOPMed gnomAD
TCGA novel	1911	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4982900 rs151311972	1912	T>M		No	ESP ExAC TOPMed gnomAD ClinGen
CA4982901 rs532552034	1912	T>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen

No associated diseases with P23468

29 regional properties for P23468

Type	Name	Position	InterPro Accession
domain	Tyrosine-specific protein phosphatase, PTPase domain	1356 - 1614	IPR000242-1
domain	Tyrosine-specific protein phosphatase, PTPase domain	1643 - 1905	IPR000242-2
domain	Tyrosine-specific protein phosphatases domain	1532 - 1603	IPR000387-1
domain	Tyrosine-specific protein phosphatases domain	1821 - 1894	IPR000387-2
domain	Protein-tyrosine phosphatase, catalytic	1510 - 1611	IPR003595-1
domain	Protein-tyrosine phosphatase, catalytic	1799 - 1902	IPR003595-2
domain	Immunoglobulin subtype 2	36 - 105	IPR003598-1
domain	Immunoglobulin subtype 2	138 - 214	IPR003598-2
domain	Immunoglobulin subtype 2	248 - 309	IPR003598-3
domain	Immunoglobulin subtype	30 - 116	IPR003599-1
domain	Immunoglobulin subtype	132 - 226	IPR003599-2
domain	Immunoglobulin subtype	242 - 320	IPR003599-3
domain	Immunoglobulin subtype	509 - 603	IPR003599-4
domain	Fibronectin type III	323 - 415	IPR003961-1
domain	Fibronectin type III	418 - 516	IPR003961-2
domain	Fibronectin type III	516 - 607	IPR003961-3
domain	Fibronectin type III	609 - 709	IPR003961-4
domain	Fibronectin type III	712 - 822	IPR003961-5
domain	Fibronectin type III	823 - 919	IPR003961-6
domain	Fibronectin type III	919 - 1016	IPR003961-7
domain	Fibronectin type III	1018 - 1095	IPR003961-8
domain	Immunoglobulin-like domain	24 - 114	IPR007110-1
domain	Immunoglobulin-like domain	126 - 224	IPR007110-2
domain	Immunoglobulin-like domain	236 - 318	IPR007110-3
domain	Immunoglobulin I-set	24 - 115	IPR013098-1
domain	Immunoglobulin I-set	127 - 216	IPR013098-2
active_site	Protein-tyrosine phosphatase, active site	1551 - 1561	IPR016130-1
active_site	Protein-tyrosine phosphatase, active site	1842 - 1852	IPR016130-2
domain	Receptor-type tyrosine-protein phosphatase delta, PTPase domain, repeat 1	1334 - 1617	IPR045905

Functions

		Description
EC Number	3.1.3.48	Phosphoric monoester hydrolases
Subcellular Localization	Membrane; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
hippocampal mossy fiber to CA3 synapse	One of the giant synapses that form between the mossy fiber axons of dentate gyrus granule cells and the large complex spines of CA3 pyramidal cells. It consists of a giant bouton known as the mossy fiber expansion, synapsed to the complex, multiheaded spine (thorny excresence) of a CA3 pyramidal cell.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of presynaptic membrane	The component of the presynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
Schaffer collateral - CA1 synapse	A synapse between the Schaffer collateral axon of a CA3 pyramidal cell and a CA1 pyramidal cell.

4 GO annotations of molecular function

Name	Definition
cell adhesion molecule binding	Binding to a cell adhesion molecule.
protein tyrosine phosphatase activity	Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
transmembrane receptor protein tyrosine phosphatase activity	Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate.

15 GO annotations of biological process

Name	Definition
heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	The attachment of an adhesion molecule in one cell to a nonidentical adhesion molecule in an adjacent cell.
modulation of chemical synaptic transmission	Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission.
negative regulation of receptor signaling pathway via JAK-STAT	Any process that stops, prevents, or reduces the frequency, rate or extent of a receptor signaling pathway via JAK-STAT.
neuron differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neuron.
phosphate-containing compound metabolic process	The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid.
positive regulation of dendrite morphogenesis	Any process that activates or increases the frequency, rate or extent of dendrite morphogenesis.
positive regulation of synapse assembly	Any process that activates, maintains or increases the frequency, rate or extent of synapse assembly, the aggregation, arrangement and bonding together of a set of components to form a synapse.
presynaptic membrane assembly	The aggregation, arrangement and bonding together of a set of components to form a presynaptic membrane, including any proteins associated with the membrane, but excluding other cellular components. A presynaptic membrane is a specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction.
protein dephosphorylation	The process of removing one or more phosphoric residues from a protein.
regulation of immune response	Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus.
regulation of postsynaptic density assembly	Any process that modulates the frequency, rate or extent of postsynaptic density assembly, the aggregation, arrangement and bonding together of a set of components to form a postsynaptic density.
regulation of presynapse assembly	Any process that modulates the frequency, rate or extent of presynapse assembly.
synaptic membrane adhesion	The attachment of presynaptic membrane to postsynaptic membrane via adhesion molecules that are at least partially embedded in the plasma membrane.
trans-synaptic signaling by trans-synaptic complex	Cell-cell signaling between presynapse and postsynapse mediated by a trans-synaptic protein complex.
transmembrane receptor protein tyrosine phosphatase signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses protein tyrosine phosphatase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P08575	PTPRC	Receptor-type tyrosine-protein phosphatase C	Homo sapiens (Human)	PR
P28827	PTPRM	Receptor-type tyrosine-protein phosphatase mu	Homo sapiens (Human)	PR
Q15262	PTPRK	Receptor-type tyrosine-protein phosphatase kappa	Homo sapiens (Human)	PR
P10586	PTPRF	Receptor-type tyrosine-protein phosphatase F	Homo sapiens (Human)	PR
Q13332	PTPRS	Receptor-type tyrosine-protein phosphatase S	Homo sapiens (Human)	PR
P43378	PTPN9	Tyrosine-protein phosphatase non-receptor type 9	Homo sapiens (Human)	PR
P49446	Ptpre	Receptor-type tyrosine-protein phosphatase epsilon	Mus musculus (Mouse)	PR
P35822	Ptprk	Receptor-type tyrosine-protein phosphatase kappa	Mus musculus (Mouse)	PR
Q64487	Ptprd	Receptor-type tyrosine-protein phosphatase delta	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MVHVARLLLL	LLTFFLRTDA	ETPPRFTRTP	VDQTGVSGGV	ASFICQATGD	PRPKIVWNKK
70	80	90	100	110	120
GKKVSNQRFE	VIEFDDGSGS	VLRIQPLRTP	RDEAIYECVA	SNNVGEISVS	TRLTVLREDQ
130	140	150	160	170	180
IPRGFPTIDM	GPQLKVVERT	RTATMLCAAS	GNPDPEITWF	KDFLPVDTSN	NNGRIKQLRS
190	200	210	220	230	240
ESIGGTPIRG	ALQIEQSEES	DQGKYECVAT	NSAGTRYSAP	ANLYVRELRE	VRRVPPRFSI
250	260	270	280	290	300
PPTNHEIMPG	GSVNITCVAV	GSPMPYVKWM	LGAEDLTPED	DMPIGRNVLE	LNDVRQSANY
310	320	330	340	350	360
TCVAMSTLGV	IEAIAQITVK	ALPKPPGTPV	VTESTATSIT	LTWDSGNPEP	VSYYIIQHKP
370	380	390	400	410	420
KNSEELYKEI	DGVATTRYSV	AGLSPYSDYE	FRVVAVNNIG	RGPPSEPVLT	QTSEQAPSSA
430	440	450	460	470	480
PRDVQARMLS	STTILVQWKE	PEEPNGQIQG	YRVYYTMDPT	QHVNNWMKHN	VADSQITTIG
490	500	510	520	530	540
NLVPQKTYSV	KVLAFTSIGD	GPLSSDIQVI	TQTGVPGQPL	NFKAEPESET	SILLSWTPPR
550	560	570	580	590	600
SDTIANYELV	YKDGEHGEEQ	RITIEPGTSY	RLQGLKPNSL	YYFRLAARSP	QGLGASTAEI
610	620	630	640	650	660
SARTMQSKPS	APPQDISCTS	PSSTSILVSW	QPPPVEKQNG	IITEYSIKYT	AVDGEDDKPH
670	680	690	700	710	720
EILGIPSDTT	KYLLEQLEKW	TEYRITVTAH	TDVGPGPESL	SVLIRTNEDV	PSGPPRKVEV
730	740	750	760	770	780
EAVNSTSVKV	SWRSPVPNKQ	HGQIRGYQVH	YVRMENGEPK	GQPMLKDVML	ADAQWEFDDT
790	800	810	820	830	840
TEHDMIISGL	QPETSYSLTV	TAYTTKGDGA	RSKPKLVSTT	GAVPGKPRLV	INHTQMNTAL
850	860	870	880	890	900
IQWHPPVDTF	GPLQGYRLKF	GRKDMEPLTT	LEFSEKEDHF	TATDIHKGAS	YVFRLSARNK
910	920	930	940	950	960
VGFGEEMVKE	ISIPEEVPTG	FPQNLHSEGT	TSTSVQLSWQ	PPVLAERNGI	ITKYTLLYRD
970	980	990	1000	1010	1020
INIPLLPMEQ	LIVPADTTMT	LTGLKPDTTY	DVKVRAHTSK	GPGPYSPSVQ	FRTLPVDQVF
1030	1040	1050	1060	1070	1080
AKNFHVKAVM	KTSVLLSWEI	PENYNSAMPF	KILYDDGKMV	EEVDGRATQK	LIVNLKPEKS
1090	1100	1110	1120	1130	1140
YSFVLTNRGN	SAGGLQHRVT	AKTAPDVLRT	KPAFIGKTNL	DGMITVQLPE	VPANENIKGY
1150	1160	1170	1180	1190	1200
YIIIVPLKKS	RGKFIKPWES	PDEMELDELL	KEISRKRRSI	RYGREVELKP	YIAAHFDVLP
1210	1220	1230	1240	1250	1260
TEFTLGDDKH	YGGFTNKQLQ	SGQEYVFFVL	AVMEHAESKM	YATSPYSDPV	VSMDLDPQPI
1270	1280	1290	1300	1310	1320
TDEEEGLIWV	VGPVLAVVFI	ICIVIAILLY	KRKRAESDSR	KSSIPNNKEI	PSHHPTDPVE
1330	1340	1350	1360	1370	1380
LRRLNFQTPG	MASHPPIPIL	ELADHIERLK	ANDNLKFSQE	YESIDPGQQF	TWEHSNLEVN
1390	1400	1410	1420	1430	1440
KPKNRYANVI	AYDHSRVLLS	AIEGIPGSDY	VNANYIDGYR	KQNAYIATQG	SLPETFGDFW
1450	1460	1470	1480	1490	1500
RMIWEQRSAT	VVMMTKLEER	SRVKCDQYWP	SRGTETHGLV	QVTLLDTVEL	ATYCVRTFAL
1510	1520	1530	1540	1550	1560
YKNGSSEKRE	VRQFQFTAWP	DHGVPEHPTP	FLAFLRRVKT	CNPPDAGPMV	VHCSAGVGRT
1570	1580	1590	1600	1610	1620
GCFIVIDAML	ERIKHEKTVD	IYGHVTLMRA	QRNYMVQTED	QYIFIHDALL	EAVTCGNTEV
1630	1640	1650	1660	1670	1680
PARNLYAYIQ	KLTQIETGEN	VTGMELEFKR	LASSKAHTSR	FISANLPCNK	FKNRLVNIMP
1690	1700	1710	1720	1730	1740
YESTRVCLQP	IRGVEGSDYI	NASFIDGYRQ	QKAYIATQGP	LAETTEDFWR	MLWEHNSTIV
1750	1760	1770	1780	1790	1800
VMLTKLREMG	REKCHQYWPA	ERSARYQYFV	VDPMAEYNMP	QYILREFKVT	DARDGQSRTV
1810	1820	1830	1840	1850	1860
RQFQFTDWPE	QGVPKSGEGF	IDFIGQVHKT	KEQFGQDGPI	SVHCSAGVGR	TGVFITLSIV
1870	1880	1890	1900	1910
LERMRYEGVV	DIFQTVKMLR	TQRPAMVQTE	DQYQFSYRAA	LEYLGSFDHY	AT