AiPD: Autoinhibited Protein Database

Q9UGM3

Gene name	DMBT1
Protein name	Deleted in malignant brain tumors 1 protein
Names	Glycoprotein 340, Gp-340, Hensin, Salivary agglutinin, SAG, Surfactant pulmonary-associated D-binding protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1755
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

10-99 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

10-99 (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

6 structures for Q9UGM3

Entry ID	Method	Resolution	Chain	Position	Source
6SA4	X-ray	177 A	A	95-203	PDB
6SA5	X-ray	129 A	A	986-1094	PDB
6SAN	X-ray	136 A	A/B	986-1094	PDB
8J8D	X-ray	151 A	A	1371-1489	PDB
8J8T	X-ray	181 A	A/B	1371-1489	PDB
AF-Q9UGM3-F1	Predicted				AlphaFoldDB

1956 variants for Q9UGM3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA378584196 rs1200965666	2	G>R		No	ClinGen gnomAD
rs75610148 CA5726199	5	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA214408162 rs189973248	9	E>G		No	ClinGen 1000Genomes
CA5726202 rs369315785	9	E>Q		No	ClinGen ESP ExAC gnomAD
CA378584826 rs1396429906	10	M>I		No	ClinGen TOPMed gnomAD
CA378584836 rs1466054323	11	C>R		No	ClinGen gnomAD
rs552127186 CA214408163	11	C>Y		No	ClinGen 1000Genomes TOPMed gnomAD
CA378584932 rs1401726803	15	G>E		No	ClinGen TOPMed
rs565256131 CA214408164	16	Q>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA378584980 rs1474471933	17	V>A		No	ClinGen TOPMed
CA5726203 rs746025070	18	L>Q		No	ClinGen ExAC gnomAD
rs1439072326 CA378585026	20	T>A		No	ClinGen gnomAD
CA378585061 rs1305819858	21	G>S		No	ClinGen gnomAD
rs531995285 CA5726217	22	G>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1413449885 CA378586367	23	W>L		No	ClinGen TOPMed
rs1288832906 CA378586410	24	I>M		No	ClinGen gnomAD
rs375223052 CA5726218	29	D>H		No	ClinGen ESP ExAC
rs1238175401 CA378586603	30	Y>C		No	ClinGen TOPMed
rs967156997 CA214417369	31	A>G		No	ClinGen TOPMed gnomAD
CA5726219 rs59446434	31	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378587900 rs967156997	31	A>V		No	ClinGen TOPMed gnomAD
CA378587904 rs1184095463	32	S>L		No	ClinGen gnomAD
CA5726242 rs143618360	33	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147204202 CA5726243	36	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378587971 rs1367064735	37	E>G		No	ClinGen TOPMed
rs140507609 CA5726245	37	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs574096227 CA214417413	39	P>T		No	ClinGen Ensembl
rs11523871 CA378588076	42	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5726247 rs779522766	42	P>HQGVL*		No	ClinGen ExAC
rs11523871 CA378588075	42	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_024788 rs11523871 CA5726246	42	P>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1373698285 CA378588123	44	V>I		No	ClinGen gnomAD
CA378588319 rs1347714577	47	G>A		No	ClinGen gnomAD
CA5726248 rs576284976	47	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378588334 rs1438141906	48	S>Y		No	ClinGen gnomAD
CA5726282 rs758499992	49	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1222571233 CA596381212	50	F>*		No	ClinGen gnomAD
CA5726285 rs75209396	52	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5726284 VAR_024789 rs75209396	52	S>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA378588459 rs3013236	54	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1213418409 CA378588439	54	S>A		No	ClinGen gnomAD
VAR_024790 rs3013236 CA5726287	54	S>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs3013236 CA378588465	54	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1453585596 CA378588471	55	T>P		No	ClinGen gnomAD
rs1446702567 CA378588499	56	L>P		No	ClinGen TOPMed
rs768243109 CA378588523	57	E>D		No	ClinGen ExAC gnomAD
CA5726289 rs773920337	58	S>*		No	ClinGen ExAC gnomAD
CA378588529 rs1468604734	58	S>T		No	ClinGen gnomAD
VAR_024791	60	V>A		No	UniProt
CA378588602 rs1164011904	62	E>K		No	ClinGen TOPMed gnomAD
CA214418015 rs774010507	63	G>S		No	ClinGen Ensembl
rs1443962173 CA378589791	63	G>V		No	ClinGen gnomAD
rs1234565224 CA378589837	64	S>F		No	ClinGen gnomAD
rs185045706 CA5726319 VAR_024792	65	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs766371658 CA5726321	67	S>P		No	ClinGen ExAC TOPMed gnomAD
CA5726322 rs753762000	68	L>S		No	ClinGen ExAC TOPMed gnomAD
rs202120272 CA214418966	75	T>A		No	ClinGen 1000Genomes
rs1415516926 CA378590286 CA378590291	78	E>D		No	ClinGen TOPMed gnomAD
rs568770781 CA5726327	78	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5726359 rs773229656	83	P>L		No	ClinGen ExAC gnomAD
rs1417571687 CA378591106	85	E>D		No	ClinGen gnomAD
rs1456648028 CA378591112	86	S>P		No	ClinGen gnomAD
rs1295443043 CA378591124	87	T>A		No	ClinGen TOPMed gnomAD
rs1390846092 CA378591154	89	E>D		No	ClinGen gnomAD
CA378591162 rs1307375916	90	S>P		No	ClinGen gnomAD
rs1230129900 CA378591193	93	A>S		No	ClinGen TOPMed gnomAD
rs1230129900 CA378591189	93	A>T		No	ClinGen TOPMed gnomAD
CA5726363 rs762851442	94	E>A		No	ClinGen ExAC TOPMed gnomAD
CA5726362 rs775274238	94	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1428450401 CA378591901	95	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5726388 rs368089567	96	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1392115852 CA378591956	98	S>T		No	ClinGen gnomAD
CA378591997 rs1184144498	99	G>A		No	ClinGen TOPMed gnomAD
CA5726391 rs754405043	99	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754405043 CA5726390	99	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5726389 rs754405043	99	G>S		No	ClinGen ExAC TOPMed gnomAD
CA378592000 rs1184144498	99	G>V		No	ClinGen TOPMed gnomAD
CA378592042 rs1358544050	101	A>S		No	ClinGen gnomAD
rs1175552570 CA378592055	101	A>V		No	ClinGen TOPMed
CA5726393 rs758746677	102	L>M		No	ClinGen ExAC gnomAD
CA5726394 rs758746677	102	L>V		No	ClinGen ExAC gnomAD
rs1304429971 CA378592140	105	V>G		No	ClinGen gnomAD
CA378592117 rs1376105107	105	V>M		No	ClinGen gnomAD
CA5726395 rs747165252	106	N>S		No	ClinGen ExAC gnomAD
rs199646897 CA5726396	107	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA214422568 rs371304471	107	G>V		No	ClinGen ESP TOPMed
rs544362037 CA5726397	108	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5726399 rs533094445	109	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1311008366 CA378592251	111	C>G		No	ClinGen TOPMed gnomAD
CA378592256 rs1311008366	111	C>S		No	ClinGen TOPMed gnomAD
CA378592296 rs1235258604	112	Q>*		No	ClinGen TOPMed
rs560224220 CA5726402	112	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378592344 rs1351007626	113	G>D		No	ClinGen TOPMed
rs201259616 CA5726404	114	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5726405 rs760209476	114	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1591227400 CA378592384	115	V>G		No	ClinGen Ensembl
rs372729884 CA214422633	115	V>M		No	ClinGen ESP TOPMed gnomAD
rs1250090081 CA378592397	116	E>K		No	ClinGen gnomAD
CA5726408 rs201930777	117	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5726407 rs753231596	117	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1431432185 CA378592523	119	Y>C		No	ClinGen TOPMed gnomAD
rs751425913 CA5726409	120	R>*		No	ClinGen ExAC TOPMed gnomAD
rs568734194 CA378592556	120	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5726410 rs568734194	120	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377299665 CA214422651	121	G>A		No	ClinGen ESP TOPMed gnomAD
rs377299665 CA214422656	121	G>D		No	ClinGen ESP TOPMed gnomAD
rs758797963 CA5726411	122	S>C		No	ClinGen ExAC gnomAD
CA5726412 rs777955826	123	W>*		No	ClinGen ExAC TOPMed gnomAD
rs751828262 CA5726413	125	T>I		No	ClinGen ExAC gnomAD
rs751828262 CA378592652	125	T>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs746010056 CA5726416	126	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1483313555 CA378592715	128	D>Y		No	ClinGen TOPMed
CA5726417 rs199543705	130	S>C		No	ClinGen ExAC TOPMed gnomAD
CA214422678 rs199543705	130	S>G		No	ClinGen ExAC TOPMed gnomAD
CA5726418 rs200980406	130	S>N		No	ClinGen ExAC TOPMed gnomAD
rs772024910 CA5726420	132	D>H		No	ClinGen ExAC gnomAD
rs772836684 CA5726421	133	T>I		No	ClinGen ExAC TOPMed gnomAD
CA378592878 rs772836684	133	T>N		No	ClinGen ExAC TOPMed gnomAD
CA5726422 rs746692138	135	D>V		No	ClinGen ExAC gnomAD
rs776344618 CA378592980	137	N>S		No	ClinGen ExAC TOPMed gnomAD
rs776344618 CA5726424	137	N>T		No	ClinGen ExAC TOPMed gnomAD
rs932165991 CA214422730	138	V>M		No	ClinGen TOPMed
CA214422738 rs913754982	139	V>I		No	ClinGen Ensembl
CA378593069 rs1228934493	140	C>Y		No	ClinGen TOPMed
CA5726428 rs763397930	143	L>V		No	ClinGen ExAC gnomAD
CA378593203 rs1472207485	146	G>S		No	ClinGen gnomAD
rs751802313 CA5726432	148	A>D		No	ClinGen ExAC TOPMed gnomAD
CA5726430 rs751802313	148	A>G		No	ClinGen ExAC TOPMed gnomAD
rs751802313 CA5726431	148	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5726434 rs539964635 CA5726433	149	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA378593268 rs1333784572	149	M>T		No	ClinGen TOPMed
rs1456755703 CA378593334	152	P>L		No	ClinGen TOPMed
rs1349778287 CA378593343	153	G>R		No	ClinGen TOPMed
CA5726436 rs748122459	154	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1043470950 CA214422766	155	A>G		No	ClinGen Ensembl
CA378593415 rs1437937717	156	W>*		No	ClinGen gnomAD
rs777630817 CA5726438	156	W>C		No	ClinGen ExAC TOPMed gnomAD
rs116022842 CA5726437	156	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770734716 CA5726440	157	F>L		No	ClinGen ExAC gnomAD
rs746850310 CA5726439	157	F>L		No	ClinGen ExAC gnomAD
CA5726441 rs776302731	160	G>D		No	ClinGen ExAC TOPMed gnomAD
CA378593517 rs1176321759	160	G>R		No	ClinGen TOPMed
rs1330163256 CA378593540	161	S>L		No	ClinGen gnomAD
CA5726442 rs200664624 VAR_057981	162	G>E	a glioma cell line [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs769312664 CA5726443	163	P>T		No	ClinGen ExAC gnomAD
rs555257855 CA378593607	165	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs555257855 CA5726444	165	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA5726445 rs200063826	165	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378593616 rs1179924105	166	L>Q		No	ClinGen gnomAD
rs774907509 CA5726447	166	L>V		No	ClinGen ExAC TOPMed gnomAD
rs762134732 CA5726448	167	D>G		No	ClinGen ExAC gnomAD
rs767894585 CA5726450	168	D>G		No	ClinGen ExAC TOPMed gnomAD
rs767894585 CA5726449	168	D>V		No	ClinGen ExAC TOPMed gnomAD
CA378593697 rs756356724	170	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200590365 CA5726452	170	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200590365 CA5726453	170	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756356724 CA5726451	170	R>S		No	ClinGen ExAC TOPMed gnomAD
rs369499397 CA5726454	173	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs200275337 CA214422965 CA214422977	174	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs202073945 CA5726456	174	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA378593795 rs1336744168	175	E>G		No	ClinGen gnomAD
CA5726458 rs780912281	175	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769369660 CA5726460	182	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1002033741 CA214423005	183	H>N		No	ClinGen TOPMed
rs1340060111 CA378593975	184	N>S		No	ClinGen gnomAD
rs1202953500 CA378593980	185	G>S		No	ClinGen gnomAD
CA214423010 rs923271753	185	G>V		No	ClinGen Ensembl
CA5726461 rs779675081	187	L>F		No	ClinGen ExAC TOPMed gnomAD
CA5726464 rs372481766	188	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA5726463 rs768191138	188	S>T		No	ClinGen ExAC gnomAD
rs200889785 CA5726465	189	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs773657584 CA5726467	190	N>I		No	ClinGen ExAC gnomAD
CA378594069 rs1447074775	191	C>*		No	ClinGen TOPMed gnomAD
rs1447074775 CA378594071	191	C>W		No	ClinGen TOPMed gnomAD
rs754101891 CA214423060	193	H>L		No	ClinGen ExAC gnomAD
rs202048690 CA5726469	193	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754101891 CA5726471	193	H>R		No	ClinGen ExAC gnomAD
rs202048690 CA5726470	193	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378594091 rs1332677197	194	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA378594098 rs1361255787	194	G>V		No	ClinGen TOPMed gnomAD
rs560261743 CA214423076	198	G>V		No	ClinGen 1000Genomes
rs1453665039 CA378594207	202	S>L		No	ClinGen TOPMed gnomAD
rs759752756 CA5726490	204	A>V		No	ClinGen ExAC gnomAD
CA378595166 rs1565623159	206	P>R		No	ClinGen Ensembl
CA378595161 rs765242297	206	P>S		No	ClinGen ExAC gnomAD
rs765242297 CA5726491	206	P>T		No	ClinGen ExAC gnomAD
rs1248923951 CA378595189	207	Q>L		No	ClinGen gnomAD
CA5726493 rs200245641	209	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1410207932 CA378595249	210	L>P		No	ClinGen gnomAD
CA378595232 rs1158964689	210	L>V		No	ClinGen TOPMed gnomAD
CA5726494 rs767498588	211	R>S		No	ClinGen ExAC gnomAD
rs1591242152 CA378595277	212	P>A		No	ClinGen Ensembl
rs572489921 CA5726518	213	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs752273011 CA5726519	214	S>I		No	ClinGen ExAC TOPMed gnomAD
rs367940155 CA5726520	215	W>*		No	ClinGen ESP ExAC gnomAD
CA378595548 rs1422356008	216	P>L		No	ClinGen gnomAD
rs1185586113 CA378595585	219	I>L		No	ClinGen gnomAD
CA378595614 rs1448890586	220	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5726521 rs777365927	220	S>T		No	ClinGen ExAC gnomAD
CA5726522 rs747527658	221	P>S		No	ClinGen ExAC gnomAD
CA378595617 rs747527658	221	P>T		No	ClinGen ExAC gnomAD
CA5726523 rs757768829	223	V>I		No	ClinGen ExAC TOPMed gnomAD
CA378595666 rs1393941366	224	P>R		No	ClinGen gnomAD
CA378595661 rs1401148458	224	P>S		No	ClinGen gnomAD
CA378595682 rs1382921053	225	T>I		No	ClinGen gnomAD
CA5726525 rs28584787	225	T>P		No	ClinGen ExAC gnomAD
rs564260939 CA378595694	226	E>A		No	ClinGen ExAC TOPMed gnomAD
CA214424898 rs564260939	226	E>G		No	ClinGen ExAC TOPMed gnomAD
CA5726526 rs564260939	226	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1052831714 CA214425688	228	S>Y		No	ClinGen TOPMed gnomAD
CA5726562 rs780403364	229	E>D		No	ClinGen ExAC gnomAD
CA214425709 rs756521132	229	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5726561 rs756521132	229	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA214425727 rs866531447	230	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs779157941 CA5726565	231	S>G		No	ClinGen ExAC gnomAD
rs748342306 CA5726566	231	S>T		No	ClinGen ExAC TOPMed gnomAD
rs772228714 CA378596034	232	L>F		No	ClinGen ExAC gnomAD
CA378596040 rs1243557690	233	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs901157474 CA214425781	235	R>K		No	ClinGen TOPMed
CA378596102 rs1400907672	237	V>M		No	ClinGen gnomAD
rs997465937 CA214425814	239	G>A		No	ClinGen TOPMed
CA5726571 rs181582266	239	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs762889226 CA5726572	240	G>D		No	ClinGen ExAC TOPMed gnomAD
CA5726575 rs368897345	241	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs368897345 CA5726574 COSM274798	241	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5726577 rs749836810	242	R>G		No	ClinGen ExAC gnomAD
rs1565638852 CA378596243	242	R>S		No	ClinGen Ensembl
rs1374403327 CA378596266	243	C>G		No	ClinGen gnomAD
rs1374403327 CA378596265	243	C>R		No	ClinGen gnomAD
CA378596288 COSM203081 rs1227952543	244	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5726578 rs187208588	244	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5726581 rs201471849	246	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765550970 CA5726583	246	R>L		No	ClinGen ExAC TOPMed gnomAD
rs765550970 CA5726582	246	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1248980230 CA378596338	247	V>E		No	ClinGen TOPMed
CA5726585 rs778048506	249	V>F		No	ClinGen ExAC TOPMed
rs1591261043 CA378596417	249	V>G		No	ClinGen Ensembl
CA378596407 rs778048506	249	V>I		No	ClinGen ExAC TOPMed
rs757387838 CA5726587	251	Y>H		No	ClinGen ExAC gnomAD
rs972429706 CA214425912	252	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA378596525 rs749196088	252	R>L		No	ClinGen ExAC TOPMed gnomAD
rs749196088 COSM915596 CA5726589 COSM915594	252	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs928506732 CA214425929 COSM280424	253	G>D	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA5726590 rs200816232	253	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378596608 rs1287786069	255	W>*		No	ClinGen TOPMed
CA5726591 rs774229919	256	G>D		No	ClinGen ExAC gnomAD
rs774229919 CA378596653	256	G>V		No	ClinGen ExAC gnomAD
rs772907219 CA5726594	257	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1048570552 CA214425996	258	V>E		No	ClinGen Ensembl
rs765847530 CA378596699	258	V>L		No	ClinGen ExAC gnomAD
rs765847530 CA5726596 COSM915599 COSM915597	258	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5726603 rs766983056	262	Y>*		No	ClinGen ExAC
CA5726602 rs199611914	262	Y>C		No	ClinGen 1000Genomes ExAC TOPMed
CA5726601 rs201456825	262	Y>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1411934656 CA378596922	263	W>L		No	ClinGen TOPMed
CA214426022 rs375023597	264	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
CA378596950 rs1240931989	265	T>A		No	ClinGen gnomAD
CA5726604 rs530434902	265	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA5726605 rs201383900	266	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5726607 rs771172162	268	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs149788698 CA5726608	268	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754896794 CA378597013	269	N>K		No	ClinGen ExAC gnomAD
CA214426051 rs901291105	269	N>S		No	ClinGen TOPMed gnomAD
rs778906988 CA5726610	270	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs771879567 CA5726612	271	V>I		No	ClinGen ExAC
CA378597079 rs772783083	274	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1320053022 CA378597102	276	G>D		No	ClinGen gnomAD
rs746635143 CA5726614	279	W>G		No	ClinGen ExAC TOPMed gnomAD
rs746635143 CA378597129	279	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1173547948 CA378597137	279	W>S		No	ClinGen gnomAD
rs1229011943 CA378597184	281	M>I		No	ClinGen TOPMed
CA5726615 rs200386986	281	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378597238 rs1315344349	284	P>A		No	ClinGen TOPMed gnomAD
rs759038747 CA378597264 COSM299176	285	G>E	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5726617 rs759038747	285	G>V		No	ClinGen ExAC TOPMed gnomAD
rs765788002 CA5726618	286	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5726619 rs759311895	287	A>D		No	ClinGen ExAC TOPMed gnomAD
CA378597309 rs759311895	287	A>V		No	ClinGen ExAC TOPMed gnomAD
rs764477516 CA5726622	288	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA5726621 rs764477516	288	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs370124735 CA378597348	289	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs767709598 CA5726624	289	F>L		No	ClinGen ExAC gnomAD
CA5726623 rs370124735	289	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA5726626 rs756250408	290	G>V		No	ClinGen ExAC TOPMed gnomAD
CA378597378 rs1477976231	291	Q>R		No	ClinGen gnomAD
rs1431902524 CA378597387	292	G>C		No	ClinGen TOPMed gnomAD
CA378597393 rs373019306	292	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1431902524 CA378597391	292	G>R		No	ClinGen TOPMed gnomAD
rs373019306 CA5726629	292	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378597408 rs1382919575	293	S>L		No	ClinGen TOPMed gnomAD
CA5726631 rs377334633	294	G>R		No	ClinGen ESP ExAC gnomAD
CA378597417 rs1276552177	294	G>V		No	ClinGen TOPMed
rs370919826 CA5726633	295	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1327008346 CA378597427	295	P>S		No	ClinGen gnomAD
rs1565643327 CA378597433	296	I>L		No	ClinGen Ensembl
rs745428442 CA5726634	297	V>A		No	ClinGen ExAC gnomAD
CA214426147 rs981404562	297	V>F		No	ClinGen TOPMed
CA378597482 rs1375652313	298	L>P		No	ClinGen gnomAD
rs775891492 CA378597491	299	D>H		No	ClinGen ExAC gnomAD
CA5726636 rs775891492	299	D>Y		No	ClinGen ExAC gnomAD
rs1001413004 CA214426162	300	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA378597537 rs1206427383	301	V>A		No	ClinGen gnomAD
CA5726638 rs200945145	302	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5726637 rs200945145	302	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5726639 COSM915600 rs566307490 COSM915602	302	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA378597556 rs566307490	302	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378597575 rs1480941376	303	C>F		No	ClinGen gnomAD
CA378597614 rs760879660	305	G>E		No	ClinGen ExAC gnomAD
CA5726643 rs760879660	305	G>V		No	ClinGen ExAC gnomAD
CA5726646 rs568492430	306	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs3013245 CA378597644	306	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5726647 rs568492430	306	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378597666 rs1367249358	307	E>D		No	ClinGen TOPMed gnomAD
CA378597657 rs1301161488	307	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1405376540 CA378597678	308	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA214426235 rs952913719	309	Y>N		No	ClinGen Ensembl
CA378597710 rs1279640524	311	W>*		No	ClinGen gnomAD
CA214426236 rs914366621	312	S>N		No	ClinGen TOPMed
rs780860940 CA5726650	312	S>R		No	ClinGen ExAC gnomAD
CA378597737 rs1235681099	313	C>S		No	ClinGen TOPMed
CA378597743 rs1220935193	313	C>W		No	ClinGen gnomAD
rs947126229 CA214426243	314	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA378597764 rs1203770513	315	H>Y		No	ClinGen TOPMed gnomAD
CA5726653 rs202149132	316	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1421113613 CA378597826	317	G>A		No	ClinGen gnomAD
CA5726654 rs557365998	319	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs557365998 CA378597863	319	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs557365998 CA378597870	319	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1297019 COSM1297017 rs370180386 CA5726656	320	T>S	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA5726659 rs145382439	321	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145382439 CA5726658	321	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_044417 rs1969620 CA5726660	322	N>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA378597923 rs1969620	322	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1393986617 CA378597935	322	N>S		No	ClinGen gnomAD
CA5726662 rs766386496	324	G>A		No	ClinGen ExAC TOPMed gnomAD
CA378597977 rs766386496	324	G>D		No	ClinGen ExAC TOPMed gnomAD
CA5726661 rs374750551	324	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs766386496 CA378597987	324	G>V		No	ClinGen ExAC TOPMed gnomAD
rs776711119 CA5726663	325	H>Q		No	ClinGen ExAC gnomAD
rs763168115 CA5726665	326	S>N		No	ClinGen ExAC TOPMed gnomAD
rs759516753 CA5726664	326	S>R		No	ClinGen ExAC TOPMed gnomAD
CA5726666 rs763168115	326	S>T		No	ClinGen ExAC TOPMed gnomAD
rs572717565 CA5726667	327	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1004384300 CA214426290	327	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs368399247 CA214426303	328	D>H		No	ClinGen ESP TOPMed
rs184219040 CA5726670	329	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs184219040 CA5726669	329	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374892566 CA5726671	329	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA378598108 rs1242808802	330	G>C		No	ClinGen gnomAD
rs748887368 CA5726672	330	G>D		No	ClinGen ExAC gnomAD
CA378598126 rs1424337585	331	V>A		No	ClinGen gnomAD
CA5726674 rs779605519	331	V>F		No	ClinGen ExAC gnomAD
CA378598137 rs200308839	332	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA378598144 rs1320308203	332	I>T		No	ClinGen TOPMed
CA5726676 rs200308839	332	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA378598162 rs1289688687	334	S>T		No	ClinGen TOPMed
rs1418137875 CA378598886	335	A>D		No	ClinGen TOPMed gnomAD
rs1418137875 CA378598888	335	A>V		No	ClinGen TOPMed gnomAD
rs201715243 CA5726715	336	P>S		No	ClinGen ExAC TOPMed gnomAD
rs201715243 CA378598889	336	P>T		No	ClinGen ExAC TOPMed gnomAD
rs770061120 CA5726717	337	Q>E		No	ClinGen ExAC
VAR_024793	337	Q>L		No	UniProt
rs483352734 RCV000087219 CA229140	338	S>P		No	ClinGen ClinVar Ensembl dbSNP
rs370312495 CA5726722	339	R>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs370312495 CA5726721	339	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5726720 rs199654461	339	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770763185 CA5726723	340	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770763185 CA378598911	340	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs368733824 CA5726725	341	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA378598920 rs1222209056	342	P>S		No	ClinGen gnomAD
rs111575923 CA5726726	343	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378598935 rs1195519037	344	P>L		No	ClinGen TOPMed
CA214427524 COSM304895 COSM304894 rs1028264761	344	P>T	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1234299179 CA378599795	345	D>G		No	ClinGen gnomAD
rs762578115 CA5726729	345	D>N		No	ClinGen ExAC gnomAD
rs762578115 CA5726728	345	D>Y		No	ClinGen ExAC gnomAD
rs769668119 CA5726744	347	W>*		No	ClinGen ExAC TOPMed gnomAD
CA378599839 rs1182512249	348	P>L		No	ClinGen TOPMed gnomAD
CA378599849 rs1443430182	349	T>N		No	ClinGen TOPMed
rs1194652064 CA378599872	351	H>R		No	ClinGen TOPMed
CA5726746 rs762631250	351	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA5726748 rs763676409	356	G>R		No	ClinGen ExAC gnomAD
VAR_024794 CA214430623 rs141757453	357	P>S		No	ClinGen UniProt dbSNP gnomAD
CA378600001 rs1385009731	358	E>K		No	ClinGen gnomAD
VAR_024795	364	R>G		No	UniProt
CA214430629 VAR_024796 rs104894156	420	Q>H	a glioma sample; glioblastoma multiforme; somatic mutation [UniProt]	No	ClinGen UniProt Ensembl dbSNP
CA5726751 rs375387146	469	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378602749 rs375387146	469	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs917724199 CA214430662	470	T>K		No	ClinGen TOPMed gnomAD
rs917724199 CA378602761	470	T>M		No	ClinGen TOPMed gnomAD
CA378602773 rs1202575579	471	P>H		No	ClinGen TOPMed gnomAD
rs1219900398 CA378602789	472	S>N		No	ClinGen TOPMed
rs750908750 CA5726752	472	S>R		No	ClinGen ExAC TOPMed gnomAD
rs749083951 CA5726765	474	D>E		No	ClinGen ExAC gnomAD
CA378602885 rs1445780697	474	D>G		No	ClinGen TOPMed gnomAD
rs545509488 CA5726753	474	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5726766 rs768261055	475	T>M		No	ClinGen ExAC TOPMed gnomAD
CA378602888 rs1264378846	475	T>P		No	ClinGen TOPMed gnomAD
rs768261055 CA378602892	475	T>R		No	ClinGen ExAC TOPMed gnomAD
rs767003108 CA5726769	476	L>S		No	ClinGen ExAC gnomAD
CA5726770 rs369972758	477	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761101510 CA378602910	479	I>L		No	ClinGen ExAC TOPMed gnomAD
CA5726771 rs761101510	479	I>V		No	ClinGen ExAC TOPMed gnomAD
CA378602920 rs1299914394	480	T>I		No	ClinGen gnomAD
CA378602930 rs755362415	482	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5726774 rs755362415	482	P>T		No	ClinGen ExAC TOPMed gnomAD
rs758442204 CA214431115	483	A>E		No	ClinGen ExAC TOPMed gnomAD
CA214431113 rs1055195596	483	A>T		No	ClinGen TOPMed gnomAD
rs758442204 CA5726777	483	A>V		No	ClinGen ExAC TOPMed gnomAD
rs371217158 CA5726779	484	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5726780 rs371217158	484	S>W		No	ClinGen ExAC TOPMed gnomAD
rs749079327 CA5726782	485	T>I		No	ClinGen ExAC gnomAD
CA214431165 rs201130353	486	V>A		No	ClinGen TOPMed gnomAD
rs764959411 CA5726783	486	V>L		No	ClinGen ExAC TOPMed gnomAD
rs778452960 CA5726784	487	G>*		No	ClinGen ExAC gnomAD
rs368317581 CA5726819	488	S>P		No	ClinGen ESP ExAC gnomAD
CA5726820 rs754886919	490	S>P		No	ClinGen ExAC gnomAD
COSM1504784 CA5726821 rs754886919 COSM1504786	490	S>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs963669564 CA214431764	491	S>T		No	ClinGen TOPMed
CA5726824 rs777449511	495	R>K		No	ClinGen ExAC gnomAD
rs746611067 CA5726825	495	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1404857531 CA378604396	497	V>M		No	ClinGen gnomAD
rs756787207 CA5726826	498	N>D		No	ClinGen ExAC TOPMed gnomAD
CA5726828 rs780699313	500	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5726827 rs780699313	500	G>S		No	ClinGen ExAC TOPMed gnomAD
CA214431796 rs970866995	502	R>G		No	ClinGen TOPMed
rs775830549 CA5726830	502	R>S		No	ClinGen ExAC TOPMed gnomAD
CA5726831 rs749721024	503	C>Y		No	ClinGen ExAC gnomAD
CA378604525 rs1219513740	505	G>S		No	ClinGen gnomAD
rs769093369 CA5726832	506	R>*		No	ClinGen ExAC TOPMed gnomAD
CA5726833 rs370843906	506	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA214431822 rs924019477	507	V>L		No	ClinGen TOPMed gnomAD
CA378604596 rs1591304383	509	V>G		No	ClinGen Ensembl
rs1483541379 CA378604619	511	Y>C		No	ClinGen gnomAD
rs762059442 CA5726834	512	R>*		No	ClinGen ExAC TOPMed gnomAD
rs374635240 CA378604635	512	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs374635240 COSM3396951 COSM3396953 CA5726835	512	R>Q	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs760665372 CA5726837	513	G>D		No	ClinGen ExAC TOPMed gnomAD
rs773397036 CA5726836	513	G>R		No	ClinGen ExAC TOPMed gnomAD
CA378604639 rs773397036	513	G>S		No	ClinGen ExAC TOPMed gnomAD
CA214431839 rs942653402	514	S>A		No	ClinGen TOPMed
CA214431842 rs1039580642	514	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA378604677 rs1382832502	515	W>L		No	ClinGen TOPMed
CA5726842 rs546531968	518	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5726841 rs546531968	518	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs780706822 CA5726844	519	C>Y		No	ClinGen ExAC gnomAD
rs1565688466 CA378604757	520	D>V		No	ClinGen Ensembl
CA5726847 rs780635793	521	D>H		No	ClinGen ExAC TOPMed gnomAD
CA5726849 rs769148424	522	S>C		No	ClinGen ExAC gnomAD
rs774798136 CA5726850	522	S>N		No	ClinGen ExAC gnomAD
CA5726851 rs748510626	524	D>Y		No	ClinGen ExAC gnomAD
rs773273957 CA5726853	525	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5726854 rs760855452	526	N>D		No	ClinGen ExAC gnomAD
CA214431887 rs1016612460	526	N>T		No	ClinGen TOPMed
CA378604869 rs1487308231	527	D>G		No	ClinGen gnomAD
rs766318975 CA5726855	529	N>S		No	ClinGen ExAC gnomAD
rs1591305324 CA378604933	533	R>M		No	ClinGen Ensembl
rs762807417 CA5726857	534	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA378604947 rs1322506181	535	L>R		No	ClinGen TOPMed
CA5726860 rs761567473	536	G>A		No	ClinGen ExAC gnomAD
CA378604956 rs1438908902	537	C>Y		No	ClinGen gnomAD
rs1455425541 CA378604978	540	A>D		No	ClinGen gnomAD
rs767250184 CA5726861	540	A>S		No	ClinGen ExAC gnomAD
CA5726864 CA378604986 rs779365046	541	M>I		No	ClinGen ExAC TOPMed gnomAD
rs749996349 CA5726862	541	M>L		No	ClinGen ExAC TOPMed gnomAD
rs755681608 CA5726863	541	M>T		No	ClinGen ExAC TOPMed gnomAD
CA5726866 rs199575931	542	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5726868 rs748561929	545	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1480099818 CA378605011	546	N>D		No	ClinGen gnomAD
CA5726869 rs200713568 VAR_057982	546	N>S	a glioma cell line [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA378605022 COSM1346427 rs1239402169 COSM1346425	547	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs546909109 CA214431944	548	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5726871 rs377302246	548	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs546909109 CA5726870	548	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1380951159 CA378605033	550	G>C		No	ClinGen TOPMed gnomAD
CA5726873 rs776752840	550	G>V		No	ClinGen ExAC gnomAD
rs905588087 CA214431961	551	Q>E		No	ClinGen Ensembl
rs759611059 CA5726874	551	Q>H		No	ClinGen ExAC gnomAD
rs369511064 CA214431966	551	Q>L		No	ClinGen ESP gnomAD
rs956826688 CA214431969	552	G>D		No	ClinGen TOPMed
rs1249372326 CA378605044	552	G>R		No	ClinGen TOPMed
CA5726877 rs533123480	554	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5726879 rs750097305	556	I>L		No	ClinGen ExAC TOPMed gnomAD
CA5726881 rs766039747	556	I>T		No	ClinGen ExAC gnomAD
CA5726880 rs750097305	556	I>V		No	ClinGen ExAC TOPMed gnomAD
rs376015834 CA378605075	558	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5726882 rs376015834	558	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1457792231 CA378605084	559	D>G		No	ClinGen gnomAD
CA378605080 rs1259458313	559	D>H		No	ClinGen gnomAD
CA5726888 CA5726886 rs143892520	560	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5726884 rs779611696	560	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5726885 rs753202416	560	D>V		No	ClinGen ExAC gnomAD
COSM1733039 CA5726889 rs183424253 COSM1733041	561	V>M	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs370276232 CA5726890	562	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5726891 rs370276232	562	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5726892 rs373395522	562	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA214432048 rs922517283	566	N>H		No	ClinGen TOPMed gnomAD
CA5726894 rs115205066	566	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs115205066 CA5726893	566	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1284583247 CA378605191	568	S>C		No	ClinGen gnomAD
rs771916081 CA5726895	569	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs772936297 CA5726896	571	W>*		No	ClinGen ExAC gnomAD
CA5726897 rs371036637	571	W>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1275809098 CA378605269	574	P>H		No	ClinGen gnomAD
rs1202555295 CA378605267	574	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5726899 rs766174555	575	H>D		No	ClinGen ExAC gnomAD
rs766174555 CA5726898	575	H>N		No	ClinGen ExAC gnomAD
rs964211056 CA214432083	576	N>D		No	ClinGen Ensembl
rs1344239068 CA378605295	576	N>S		No	ClinGen TOPMed
CA5726900 rs759136456	577	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1245328919 CA378605329	578	W>*		No	ClinGen TOPMed
CA214432103 rs976799501	579	L>F		No	ClinGen Ensembl
CA5726901 rs764795963	580	S>T		No	ClinGen ExAC TOPMed gnomAD
CA5726903 rs753250312	581	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1335505499 CA378605380	582	N>I		No	ClinGen TOPMed
CA5726904 rs374312565	583	C>R		No	ClinGen ESP ExAC gnomAD
CA378605392 rs1329975563	583	C>Y		No	ClinGen TOPMed
CA5726906 rs539796091	584	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3358670 CA214432118 COSM3358668 rs577720017	584	G>R	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed
rs1423425673 CA378605424	585	H>Y		No	ClinGen TOPMed
rs372725474 CA214432143	586	S>G		No	ClinGen gnomAD
CA378605441 rs1334701842	586	S>N		No	ClinGen gnomAD
CA378605438 rs372725474	586	S>R		No	ClinGen gnomAD
rs1164594986 CA378605459	587	E>G		No	ClinGen TOPMed
CA378605484 rs780053149	589	A>S		No	ClinGen ExAC gnomAD
CA5726912 rs780053149	589	A>T		No	ClinGen ExAC gnomAD
COSM915616 COSM915614 rs1340820817 CA378605502	590	G>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA5726914 rs771968696	592	I>N		No	ClinGen ExAC gnomAD
rs749375407 CA5726913	592	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1346468921 CA378605548	594	S>A		No	ClinGen TOPMed gnomAD
rs372308924 CA5726938	596	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs916308286 CA215128662	597	E>G		No	ClinGen Ensembl
CA5726939 rs762396210	599	S>G		No	ClinGen ExAC gnomAD
rs534930818 CA5726940	601	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1267607242 CA378606562	605	V>A		No	ClinGen TOPMed gnomAD
rs574293405 CA5726942	607	G>A		No	ClinGen 1000Genomes ExAC gnomAD
VAR_024797	607	G>V	a glioma sample; pilocytic astrocytoma [UniProt]	No	UniProt
CA5726944 rs750855707	608	G>D		No	ClinGen ExAC gnomAD
CA5726943 rs768001631	608	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1591328176 CA378606585	609	D>G		No	ClinGen Ensembl
CA5726945 rs760995112	610	R>S		No	ClinGen ExAC TOPMed gnomAD
rs754043207 CA5726947	612	Q>*		No	ClinGen ExAC gnomAD
CA378606619 rs202144423	614	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5726948 RCV000892248 rs202144423	614	R>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs563142043 CA5726949	615	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1369964435 CA378606635	617	V>F		No	ClinGen TOPMed gnomAD
CA378606638 rs1591328384	617	V>G		No	ClinGen Ensembl
CA5726952 rs369941996	620	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5726953 rs371683770	620	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1466750143 CA378606656	621	G>R		No	ClinGen gnomAD
CA5726955 rs779608718	624	G>D		No	ClinGen ExAC gnomAD
rs1565717742 CA378606676	624	G>S		No	ClinGen Ensembl
CA378606686 rs1469203681	625	T>I		No	ClinGen TOPMed
CA5726957 COSM1203781 rs768064775 COSM1203779	626	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1218365498 CA378606706	628	D>E		No	ClinGen gnomAD
rs1276571720 CA378606715	629	D>E		No	ClinGen gnomAD
CA378606712 rs1347864425	629	D>G		No	ClinGen TOPMed
CA378606722 rs1320198966	630	S>R		No	ClinGen gnomAD
CA5726958 rs773971401	631	W>C		No	ClinGen ExAC gnomAD
CA5726959 rs761309740	632	D>G		No	ClinGen ExAC gnomAD
rs545567507 CA5726960	634	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5726961 RCV000959053 rs186303194	635	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs994944333 CA215128663	636	A>D		No	ClinGen Ensembl
rs761050139 CA5726962	636	A>S		No	ClinGen ExAC gnomAD
rs1439815728 CA378606783	638	V>E		No	ClinGen TOPMed
rs1050536658 CA215128664	638	V>M		No	ClinGen Ensembl
CA5726966 rs765361082	639	V>A		No	ClinGen ExAC TOPMed gnomAD
rs528049277 CA5726965	639	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5726968 rs758533360	640	C>*		No	ClinGen ExAC gnomAD
CA215128665 rs561526023	641	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378606838 rs1305146109	642	Q>H		No	ClinGen gnomAD
CA5726970 rs750350217	643	L>M		No	ClinGen ExAC gnomAD
CA5726971 rs372577890	644	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA378606850 rs1399796014	644	G>S		No	ClinGen gnomAD
CA378606865 rs1193253100	645	C>Y		No	ClinGen TOPMed
rs530408312 COSM4144403 COSM4144401 CA5726972	649	T>A	thyroid [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
VAR_024798 rs189478437 CA5726973	649	T>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5726974 rs189478437	649	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1310484468 CA378606926	650	S>P		No	ClinGen gnomAD
CA215128666 rs1030895219	651	A>T		No	ClinGen TOPMed
CA378606995 rs771520599	655	A>D		No	ClinGen ExAC TOPMed gnomAD
CA5726977 rs747703834	655	A>S		No	ClinGen ExAC gnomAD
rs771520599 CA5726978	655	A>V		No	ClinGen ExAC TOPMed gnomAD
rs2277236 CA5726979	656	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs989419742 CA215128667 VAR_024799	656	R>W		No	ClinGen UniProt TOPMed dbSNP gnomAD
rs1305318967 CA378607029	658	G>D		No	ClinGen TOPMed
rs1186716739 CA378607044	659	Q>R		No	ClinGen gnomAD
CA378607052 rs1266182096	660	G>R		No	ClinGen gnomAD
CA378607050 rs1266182096	660	G>S		No	ClinGen gnomAD
CA378607071 rs1177535407	661	S>L		No	ClinGen gnomAD
rs182080461 CA5726984	662	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775808410 CA5726985	663	P>A		No	ClinGen ExAC gnomAD
CA378607093 rs1362821055	663	P>R		No	ClinGen gnomAD
rs763158837 CA5726987	664	I>M		No	ClinGen ExAC gnomAD
rs764207018 CA5726988	665	V>F		No	ClinGen ExAC gnomAD
COSM3790555 rs756134511 CA5726990 COSM3790557	667	D>E	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA378607157 rs1239317379	668	D>E		No	ClinGen gnomAD
RCV000968195 CA5726991 rs138842806	668	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA378607153 rs1435550649	668	D>V		No	ClinGen TOPMed
RCV000953636 VAR_052994 rs2277237 CA5726992	670	R>C		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5726994 rs28493439	670	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs28493439 CA5726993	670	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377585441 CA5726996	673	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5726995 rs377585441	673	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1487263896 CA378607213	674	H>N		No	ClinGen TOPMed gnomAD
CA5726998 rs202084523	676	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1253066885 CA378607248	676	S>P		No	ClinGen TOPMed gnomAD
CA215128668 rs202084523	676	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378607273 rs1270659248	678	L>V		No	ClinGen TOPMed
CA215128669 rs931812184	680	S>C		No	ClinGen TOPMed gnomAD
rs931812184 CA378607304	680	S>G		No	ClinGen TOPMed gnomAD
CA5727000 rs574441724	680	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs746269039 CA5727001	680	S>R		No	ClinGen ExAC TOPMed gnomAD
CA5727003 rs536928569	683	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764399176 CA5727005	683	N>K		No	ClinGen ExAC TOPMed gnomAD
CA5727004 rs763215088	683	N>S		No	ClinGen ExAC TOPMed gnomAD
rs374889251 CA5727006	684	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs761768803 CA5727007	685	G>A		No	ClinGen ExAC TOPMed gnomAD
CA378607369 rs761768803	685	G>D		No	ClinGen ExAC TOPMed gnomAD
rs761768803 CA215128670	685	G>V		No	ClinGen ExAC TOPMed gnomAD
CA378607412 rs1591330843	689	H>P		No	ClinGen Ensembl
rs1311740984 CA378607411	689	H>Y		No	ClinGen gnomAD
rs1565722562 CA378607434	690	N>K		No	ClinGen Ensembl
CA378607473 rs1009032765	693	H>P		No	ClinGen TOPMed gnomAD
rs1375863011 CA378607476	693	H>Q		No	ClinGen gnomAD
rs1009032765 CA215128671	693	H>R		No	ClinGen TOPMed gnomAD
rs368695418 CA5727010	694	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA215128673 rs1014613149	696	D>V		No	ClinGen TOPMed
CA378607517 rs1240585377	697	A>S		No	ClinGen TOPMed gnomAD
CA215128674 rs889281342	697	A>V		No	ClinGen TOPMed gnomAD
CA5727012 rs752359719	698	G>S		No	ClinGen ExAC gnomAD
rs185274383 CA5727014	700	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5727015 rs746567266	700	I>T		No	ClinGen ExAC TOPMed gnomAD
CA5727031 rs762703103	703	A>V		No	ClinGen ExAC gnomAD
CA5727032 rs763782900	705	Q>H		No	ClinGen ExAC gnomAD
rs1339512478 CA378607716	706	S>F		No	ClinGen gnomAD
CA5727034 rs756799534	707	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs751135100 CA5727033	707	R>W		No	ClinGen ExAC TOPMed gnomAD
CA378607736 rs1339434636	708	S>L		No	ClinGen TOPMed gnomAD
rs1369206705 CA378607728	708	S>P		No	ClinGen TOPMed
rs1021859406 CA215131227	709	T>M		No	ClinGen TOPMed gnomAD
rs1001818776 CA215131236	711	R>G		No	ClinGen Ensembl
rs1036255974 CA215131246	711	R>S		No	ClinGen Ensembl
CA5727054 rs755664364	713	D>G		No	ClinGen ExAC gnomAD
CA5727056 rs201320887	714	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5727055 rs201320887	714	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs189226060 CA378607894	715	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5727060 rs202151396	716	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs533950409 CA5727059	716	S>T		No	ClinGen ExAC TOPMed gnomAD
CA5727062 rs747139766	717	T>S		No	ClinGen ExAC gnomAD
CA215131964 rs902274660	718	I>T		No	ClinGen TOPMed
rs770948119 CA5727063 COSM1504777 COSM1504775	718	I>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs2277238 VAR_052995 CA5727064	719	T>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA378607918 rs2277238	719	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1275166548 CA378607930	721	P>L		No	ClinGen gnomAD
CA5727066 rs768626263	721	P>S		No	ClinGen ExAC gnomAD
CA215131990 rs868446730	722	P>S		No	ClinGen Ensembl
COSM427179 COSM427181 rs761641632 CA5727068	723	S>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA215132015 rs761641632	723	S>W		No	ClinGen ExAC TOPMed gnomAD
rs957688286 CA215132025	724	T>A		No	ClinGen TOPMed
rs149693800 CA5727070	724	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs760295141 CA5727071	725	V>I		No	ClinGen ExAC gnomAD
CA378607950 rs990396437 CA215132050	726	G>R		No	ClinGen TOPMed
CA215132934 rs949963443	727	S>F		No	ClinGen TOPMed
CA5727095 rs200806244	732	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378608003 rs1461212861	732	T>I		No	ClinGen TOPMed
rs1461212861 CA378608001	732	T>N		No	ClinGen TOPMed
CA5727096 rs764386597	733	L>V		No	ClinGen ExAC gnomAD
CA5727098 rs763061594	735	L>M		No	ClinGen ExAC TOPMed
CA378608022 rs1203701370	736	V>E		No	ClinGen TOPMed
rs1203701370 CA378608024 TCGA novel	736	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM229176 CA378608036 rs1565751640	738	G>E	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
COSM3358673 COSM3358671 rs190617825 CA215132949	739	S>G	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes gnomAD
rs376149895 CA5727100	739	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs756173372 CA5727101	740	D>N		No	ClinGen ExAC
CA378608061 rs1591358513	742	C>G		No	ClinGen Ensembl
CA378608067 rs1433388780	743	Q>K		No	ClinGen gnomAD
CA378608071 rs1175977358	743	Q>R		No	ClinGen TOPMed gnomAD
rs748053655 CA5727104 COSM3930948 COSM3930946	745	R>*	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5727105 rs771774683	745	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5727106 rs777765956	746	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5727108 rs370527817	747	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs776400755 CA5727109	747	E>A		No	ClinGen ExAC gnomAD
rs370527817 CA215133026	747	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5727110 rs758990714	749	L>P		No	ClinGen ExAC gnomAD
rs374524513 CA378608109	750	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA215133055 rs4752721	750	Y>S		No	ClinGen Ensembl
rs775863322 CA5727112	751	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs898259673 CA215133062	751	R>Q		No	ClinGen TOPMed gnomAD
CA378608114 rs1565753037	752	G>S		No	ClinGen Ensembl
rs996631469 CA215133069	752	G>V		No	ClinGen gnomAD
CA5727113 rs763575906	753	S>F		No	ClinGen ExAC TOPMed gnomAD
rs553819358 CA215133104	754	W>*		No	ClinGen Ensembl
CA5727114 rs764582588	754	W>R		No	ClinGen ExAC gnomAD
CA215133108 rs757638663	755	G>D		No	ClinGen TOPMed
CA5727116 rs762144153	757	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5727117 rs767753908	759	D>E		No	ClinGen ExAC gnomAD
COSM1728971 rs750621915 COSM1728969 CA5727118	761	S>C	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs756155502 CA5727119	761	S>N		No	ClinGen ExAC TOPMed gnomAD
CA5727120 rs780126855	763	D>G		No	ClinGen ExAC gnomAD
CA5727122 rs549275310	764	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777817360 CA378608195	764	T>I		No	ClinGen ExAC gnomAD
rs777817360 CA378608194	764	T>N		No	ClinGen ExAC gnomAD
rs777817360 CA5727123	764	T>S		No	ClinGen ExAC gnomAD
CA215133132 rs980021627	765	N>S		No	ClinGen gnomAD
rs1304585052 CA378608209	766	D>E		No	ClinGen gnomAD
rs1292266396 CA378608211	767	A>T		No	ClinGen gnomAD
CA378608216 rs1318407465	767	A>V		No	ClinGen TOPMed gnomAD
COSM1603078 COSM1603080 CA378608220 rs1335120184	768	N>S	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1374643688 CA378608225	769	V>M		No	ClinGen TOPMed
CA378608234 rs1264456842	770	V>A		No	ClinGen gnomAD
rs201204443 CA5727125	770	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367869484 CA5727126	771	C>F		No	ClinGen ESP ExAC gnomAD
CA378608239 rs367869484	771	C>Y		No	ClinGen ESP ExAC gnomAD
rs990954597 CA215133169	772	R>K		No	ClinGen TOPMed gnomAD
rs1446798414 CA378608255	773	Q>H		No	ClinGen gnomAD
CA378608257 rs1217128825	774	L>M		No	ClinGen gnomAD
CA378608260 rs769319782	774	L>P		No	ClinGen ExAC gnomAD
rs769319782 CA5727128	774	L>R		No	ClinGen ExAC gnomAD
CA215133207 rs915057167	775	G>S		No	ClinGen TOPMed
rs769200327 CA5727131	776	C>S		No	ClinGen ExAC gnomAD
rs774794746 CA5727132	776	C>Y		No	ClinGen ExAC gnomAD
CA378608275 rs1463089778	777	G>D		No	ClinGen gnomAD
CA378608278 rs1395206611	778	W>R		No	ClinGen gnomAD
rs1165937836 CA378608289	779	A>T		No	ClinGen TOPMed
CA5727135 rs199704744 COSM3382705 VAR_024800 COSM3382703	780	T>M	pancreas [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5727134 rs199704744	780	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs571730382 CA5727138	781	S>L	Variant assessed as Somatic; 9.647e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs766503429 CA5727137	781	S>T		No	ClinGen ExAC gnomAD
rs764149835 CA5727140	782	A>D		No	ClinGen ExAC TOPMed gnomAD
CA378608303 rs1234667830	782	A>S		No	ClinGen gnomAD
rs764149835 CA378608305	782	A>V		No	ClinGen ExAC TOPMed gnomAD
CA378608315 rs1202998169	784	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs757120801 CA5727142	785	N>K		No	ClinGen ExAC TOPMed gnomAD
CA5727141 rs751501687	785	N>S		No	ClinGen ExAC TOPMed gnomAD
CA378608330 rs200414440	787	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs199833346 COSM3396954 CA5727145 COSM3396956	787	R>Q	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5727144 rs200414440	787	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs779551603 CA5727146	788	F>L		No	ClinGen ExAC gnomAD
rs1337590871 CA378608343	789	G>D		No	ClinGen TOPMed
CA378608350 rs1404563993	790	Q>R		No	ClinGen TOPMed
CA5727150 rs536688364	792	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200690313 CA5727149	792	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5727151 rs772557779	793	G>R		No	ClinGen ExAC gnomAD
CA5727152 rs118033581	794	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1312045482 CA378608369	794	P>T		No	ClinGen gnomAD
rs1316799910 CA378608382	796	V>L		No	ClinGen Ensembl
rs1316788146 CA378608389	797	L>Q		No	ClinGen gnomAD
rs1365023334 CA378608403	799	D>G		No	ClinGen TOPMed
CA5727155 rs776667535	799	D>H		No	ClinGen ExAC gnomAD
rs1308522345 CA378608407	800	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs199908786 CA5727158	801	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs757332645 CA5727159	801	R>H	Variant assessed as Somatic; 0.000193 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA215133328 rs1016467270	802	C>*		No	ClinGen TOPMed
CA215133333 rs963526763	804	G>E		No	ClinGen TOPMed gnomAD
CA378608434 rs963526763	804	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs565106021 CA5727162	805	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378608439 rs572119448 COSM683010 COSM683012	805	H>Q	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs868404208 CA215133349	805	H>R		No	ClinGen Ensembl
rs565106021 CA5727161	805	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378608441 rs370127001	806	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370127001 CA5727164	806	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370127001 CA378608440	806	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1172833545 CA378608451	807	S>Y		No	ClinGen gnomAD
CA5727166 rs560609692	808	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1326178496 CA378608472	810	W>C		No	ClinGen TOPMed
CA5727167 rs747649388	811	S>N		No	ClinGen ExAC gnomAD
CA5727168 rs772605027	811	S>R		No	ClinGen ExAC gnomAD
CA215133377 rs970799156	813	P>S		No	ClinGen TOPMed gnomAD
CA5727169 rs183148698	814	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378608493 rs183148698	814	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5727170 rs747418479	815	N>D		No	ClinGen ExAC gnomAD
CA5727171 rs376863791	816	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA378608510 rs376863791	816	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA5727172 rs776916270	818	L>P		No	ClinGen ExAC gnomAD
rs765542236 CA5727174	819	S>T		No	ClinGen ExAC TOPMed gnomAD
CA378608537 rs775753378	820	H>Q		No	ClinGen ExAC gnomAD
CA378608536 rs1445496518	820	H>R		No	ClinGen gnomAD
rs763105286 CA5727176	821	N>D		No	ClinGen ExAC gnomAD
rs1565759159 CA378608556	823	G>D		No	ClinGen Ensembl
rs767512064 CA5727178	823	G>R		No	ClinGen ExAC gnomAD
rs1258247740 CA378608560	824	H>Y		No	ClinGen gnomAD
rs1241302358 CA378608567	825	H>N		No	ClinGen TOPMed
rs200031449 CA5727180	825	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1393137278 CA378608571	825	H>R		No	ClinGen TOPMed gnomAD
rs766034913 CA378608588	827	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1241207344 CA378608587	827	D>G		No	ClinGen TOPMed
CA5727183 rs753619756	829	G>V		No	ClinGen ExAC gnomAD
CA215133495 rs374630057	832	C>S		No	ClinGen ESP TOPMed
CA378608618 rs374630057	832	C>Y		No	ClinGen ESP TOPMed
CA5727184 rs368311443	833	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs11499281 CA5727216	834	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5727217 rs11499282	835	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5727218 rs748231276	836	Q>K		No	ClinGen ExAC gnomAD
CA5727219 rs770901296	836	Q>L		No	ClinGen ExAC gnomAD
CA5727220 rs770901296	836	Q>R		No	ClinGen ExAC gnomAD
rs759353717 CA5727221	837	S>P		No	ClinGen ExAC TOPMed gnomAD
CA5727222 rs759353717	837	S>T		No	ClinGen ExAC TOPMed gnomAD
COSM1504769 rs561523976 CA5727225 COSM1504771	838	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5727224 rs139451145 COSM3382706 COSM3382708	838	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA378608659 rs1347196512	839	P>A		No	ClinGen gnomAD
rs117786926 COSM3978176 COSM3978178 CA5727226	839	P>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs117786926 CA378608660	839	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1412000451 CA378608662	840	T>P		No	ClinGen gnomAD
rs768169982 CA5727228	841	P>S		No	ClinGen ExAC gnomAD
rs768169982 CA378608668	841	P>T		No	ClinGen ExAC gnomAD
rs1413139991 CA378608675	842	S>C		No	ClinGen TOPMed gnomAD
rs369513067 CA5727229	842	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5727233 rs559341956	844	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1204098677 CA378608713	846	W>*		No	ClinGen gnomAD
rs1483368049 CA378608711	846	W>R		No	ClinGen TOPMed gnomAD
CA378608724 rs1259028592	847	P>L		No	ClinGen TOPMed gnomAD
rs902076193 CA215135607	848	T>I		No	ClinGen TOPMed gnomAD
CA378608738 rs1465445265	850	H>Y		No	ClinGen TOPMed
rs1394947872 CA378608749	851	A>E		No	ClinGen TOPMed gnomAD
CA378608748 rs1394947872	851	A>G		No	ClinGen TOPMed gnomAD
CA215135631 rs766963761	854	A>P		No	ClinGen ExAC TOPMed gnomAD
rs766963761 CA5727248	854	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5727250 rs573037864	855	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144450471 CA215135666 VAR_024801	856	P>S		No	ClinGen UniProt dbSNP gnomAD
rs1554991211 CA378608788	857	E>K		No	ClinGen Ensembl
rs104894157 CA215135676	919	Q>H		No	ClinGen Ensembl
CA5727255 rs143657230	968	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378609566 rs143657230	968	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378609571 rs1195952221	969	T>M		No	ClinGen TOPMed gnomAD
rs1195952221 VAR_080764 CA378609570	969	T>R	found in a consanguineous family with intellectual disability; unknown pathological significance [UniProt]	No	ClinGen UniProt TOPMed dbSNP gnomAD
CA215135819 rs968291026	969	T>S		No	ClinGen TOPMed
rs181123368 CA5727259	971	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs768465510 CA5727290	973	D>G		No	ClinGen ExAC TOPMed gnomAD
rs367912231 CA5727292	974	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1057218359 CA215128749	975	L>W		No	ClinGen Ensembl
rs200154322 CA5727294	976	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA378575178 rs200154322	976	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1047594491 CA215128750	977	T>S		No	ClinGen Ensembl
CA378575203 rs1308320744	978	I>T		No	ClinGen TOPMed
rs1014220333 CA215128751	978	I>V		No	ClinGen TOPMed gnomAD
CA5727297 rs777015288	979	T>A		No	ClinGen ExAC gnomAD
rs1291220864 CA378575216	979	T>I		No	ClinGen TOPMed gnomAD
rs1291220864 CA378575212	979	T>N		No	ClinGen TOPMed gnomAD
CA378575260 rs1452169164	982	A>P		No	ClinGen TOPMed gnomAD
CA378575262 rs1452169164	982	A>T		No	ClinGen TOPMed gnomAD
rs753099351 CA5727300	982	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5727301 rs368577187	983	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1483527081 CA378575271	983	S>P		No	ClinGen gnomAD
CA215128752 rs1037598863	984	T>A		No	ClinGen gnomAD
CA378575293 rs1565792486	985	V>L		No	ClinGen Ensembl
rs201288175 CA5727303	986	G>R		No	ClinGen ExAC gnomAD
CA5727327 rs758277518	987	S>P		No	ClinGen ExAC TOPMed gnomAD
rs758277518 CA378575774	987	S>T		No	ClinGen ExAC TOPMed gnomAD
CA378575807 rs372582382	989	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5727328 rs372582382	989	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA378575809 rs1218731073	990	S>R		No	ClinGen gnomAD
rs1465750489 CA378575839	992	A>T		No	ClinGen TOPMed
CA5727329 rs746793704	992	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1591396839 CA378575877	995	L>M		No	ClinGen Ensembl
rs769119473 CA5727333	995	L>P		No	ClinGen ExAC gnomAD
rs1591396911 CA378575887	996	V>G		No	ClinGen Ensembl
CA5727335 rs376363987	996	V>M		No	ClinGen ESP ExAC gnomAD
CA5727337 rs537132208	997	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1263240690 CA378575904	997	N>I		No	ClinGen TOPMed
CA378575928 rs1198326584	999	G>S		No	ClinGen TOPMed
rs773269788 CA5727340	1000	D>E		No	ClinGen ExAC TOPMed gnomAD
CA5727339 rs767806368	1000	D>G		No	ClinGen ExAC gnomAD
CA378575933 rs1482743468	1000	D>N		No	ClinGen TOPMed
rs1591397182 CA378575956	1002	C>G		No	ClinGen Ensembl
CA5727341 rs760810404	1003	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA5727343 rs369853325	1005	R>*		No	ClinGen ESP TOPMed gnomAD
CA5727345 rs753951872	1005	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764090682 CA5727347	1007	E>D		No	ClinGen ExAC TOPMed gnomAD
CA378576018 rs1287582806	1007	E>K		No	ClinGen TOPMed gnomAD
CA378576040 rs1591397435	1008	V>G		No	ClinGen Ensembl
CA5727349 rs756953868	1009	L>P		No	ClinGen ExAC TOPMed gnomAD
rs751418655 CA5727348	1009	L>V		No	ClinGen ExAC gnomAD
CA215128897 rs909091973	1010	Y>C		No	ClinGen TOPMed
CA378576069 rs1468263764	1011	Q>E		No	ClinGen gnomAD
rs202054356 CA5727350	1011	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5727351 rs373544648	1012	G>C		No	ClinGen ESP ExAC gnomAD
rs1460424109 CA378576095	1013	S>A		No	ClinGen gnomAD
rs755750716 CA5727352	1013	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs554359435 CA215128899	1014	W>*		No	ClinGen Ensembl
rs925315678 CA215128900	1015	G>D		No	ClinGen TOPMed gnomAD
rs565618253 CA378576143	1017	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5727355 rs565618253	1017	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs186928964 CA5727357	1018	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773492969 CA378576171	1019	D>H		No	ClinGen ExAC TOPMed gnomAD
COSM1128119 COSM1128117 CA5727359 rs773492969	1019	D>N	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs771270745 CA5727361	1020	D>E		No	ClinGen ExAC gnomAD
CA5727362 rs776888953	1021	S>C		No	ClinGen ExAC gnomAD
CA5727363 rs759664729	1021	S>I		No	ClinGen ExAC gnomAD
rs759664729 CA5727364	1021	S>N		No	ClinGen ExAC gnomAD
CA215128901 rs374651645	1021	S>R		No	ClinGen ESP ExAC gnomAD
rs761672252 CA5727366	1022	W>G		No	ClinGen ExAC gnomAD
CA378576229 rs1304789835	1022	W>L		No	ClinGen TOPMed gnomAD
rs767275117 CA5727367	1023	D>H		No	ClinGen ExAC TOPMed gnomAD
rs981574037 CA215128902	1024	T>I		No	ClinGen TOPMed
rs908265696 CA215128903	1025	N>K		No	ClinGen Ensembl
rs377586374 CA378576308	1027	A>G		No	ClinGen ESP ExAC gnomAD
rs377586374 COSM35634 CA5727371	1027	A>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs370180219 CA5727372	1028	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779483533 CA5727373	1028	N>I		No	ClinGen ExAC TOPMed gnomAD
rs779483533 CA378576319	1028	N>T		No	ClinGen ExAC TOPMed gnomAD
CA378576323 rs1341210529	1029	V>I		No	ClinGen TOPMed
CA378576338 rs1377376261	1030	V>A		No	ClinGen gnomAD
rs368405942 CA5727377	1030	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5727379 rs776942534	1032	R>K		No	ClinGen ExAC TOPMed gnomAD
CA215128905 rs776942534	1032	R>M		No	ClinGen ExAC TOPMed gnomAD
CA378576400 rs552141049 CA5727381	1033	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs999103469 CA215128907	1033	Q>P		No	ClinGen TOPMed
CA378576414 rs1184991603	1035	G>S		No	ClinGen TOPMed
rs372773993 CA5727383	1036	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs374726257 CA215128909	1037	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs374726257 CA5727384	1037	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5727385 rs565684525	1038	W>*		No	ClinGen 1000Genomes ExAC
CA5727386 rs563576220	1039	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1439402476 CA378576496	1039	A>S		No	ClinGen TOPMed
CA215128910 rs563576220	1039	A>V		No	ClinGen ExAC TOPMed gnomAD
CA378576526 rs1198283063	1040	M>I		No	ClinGen gnomAD
CA5727388 rs766054376	1040	M>K		No	ClinGen ExAC gnomAD
CA5727387 rs766054376	1040	M>T		No	ClinGen ExAC gnomAD
CA5727389 rs754500938	1041	S>*		No	ClinGen ExAC TOPMed gnomAD
CA5727390 rs754500938	1041	S>L		No	ClinGen ExAC TOPMed gnomAD
rs752244455 CA5727391	1042	A>T		No	ClinGen ExAC gnomAD
rs368362298 CA5727392	1042	A>V		No	ClinGen ESP ExAC gnomAD
rs372075793 CA5727394	1043	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs757654286 CA5727395	1043	P>L		No	ClinGen ExAC
rs372075793 CA378576566	1043	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA378576585 rs1394768225	1044	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs763599324 CA215128913	1045	N>I		No	ClinGen ExAC gnomAD
CA5727396 rs763599324	1045	N>S		No	ClinGen ExAC gnomAD
CA215128912 rs1008416824	1045	N>Y		No	ClinGen Ensembl
rs746028601 CA5727398	1046	A>D		No	ClinGen ExAC TOPMed gnomAD
rs746028601 CA5727397	1046	A>G		No	ClinGen ExAC TOPMed gnomAD
CA378576597 rs374888022	1047	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs200353568 CA5727401	1047	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5727399 rs374888022	1047	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs371192521 CA5727403	1048	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA378576606 rs1192298485	1048	F>L		No	ClinGen gnomAD
rs1298036610 CA378576617	1049	G>V		No	ClinGen TOPMed gnomAD
CA5727405 rs776393486	1051	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1257343595 CA378576638	1051	G>S		No	ClinGen gnomAD
rs759248480 CA5727406	1052	S>*		No	ClinGen ExAC TOPMed gnomAD
rs759248480 CA215128914	1052	S>L		No	ClinGen ExAC TOPMed gnomAD
CA378576659 rs369113788 CA5727407	1053	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5727408 rs190124750	1054	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5727410 rs144489236	1055	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5727409 rs757874016	1055	I>T		No	ClinGen ExAC
CA378576680 rs1271014354	1055	I>V		No	ClinGen TOPMed
CA378576694 rs1378358781	1057	L>V		No	ClinGen gnomAD
rs74913395 CA215128916	1058	D>A		No	ClinGen Ensembl
CA5727414 rs369690487	1058	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs576855274 CA5727413	1058	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs780276106 CA5727416	1059	D>A		No	ClinGen ExAC TOPMed gnomAD
rs780276106 CA215128917	1059	D>G		No	ClinGen ExAC TOPMed gnomAD
rs756341445 CA5727415	1059	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs749361568 CA5727417	1060	V>M		No	ClinGen ExAC TOPMed gnomAD
rs768718263 CA5727418	1061	R>C		No	ClinGen ExAC TOPMed gnomAD
rs768718263 CA378576715	1061	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5727419 rs773151482	1061	R>H		No	ClinGen ExAC TOPMed gnomAD
CA215128918 rs773151482	1061	R>P		No	ClinGen ExAC TOPMed gnomAD
rs747011103 COSM415136 COSM415134 CA378576729	1063	S>*	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs747011103 CA5727420	1063	S>L		No	ClinGen ExAC gnomAD
rs1318499380 CA378576732	1064	G>E		No	ClinGen TOPMed
CA5727421 rs373393616	1064	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5727422 rs374196411	1065	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs572813390 CA5727424	1065	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5727423 rs377494878	1065	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378576735 rs374196411	1065	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA378576745 rs763600757	1066	E>D		No	ClinGen ExAC gnomAD
CA5727426 rs762373579	1066	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1180161694 CA378576762	1069	L>V		No	ClinGen TOPMed gnomAD
rs1264014837 CA378576768	1070	W>*		No	ClinGen TOPMed
CA378576771 rs1218156361	1070	W>*		No	ClinGen TOPMed
CA5727429 rs762450011	1070	W>R		No	ClinGen ExAC gnomAD
rs1440943204 CA378576776	1071	S>G		No	ClinGen TOPMed
CA378576777 rs1278246255	1071	S>N		No	ClinGen TOPMed
CA378576790 rs1349161912	1073	P>S		No	ClinGen gnomAD
CA5727432 rs750842759	1074	H>N		No	ClinGen ExAC TOPMed gnomAD
CA378576802 rs891360739	1074	H>Q		No	ClinGen TOPMed gnomAD
rs1286019035 CA378576808	1075	N>K		No	ClinGen TOPMed gnomAD
rs756463512 CA5727433	1075	N>S		No	ClinGen ExAC gnomAD
rs1391062891 CA378576803	1075	N>Y		No	ClinGen gnomAD
CA378576826 rs1591400797	1078	L>V		No	ClinGen Ensembl
CA5727436 rs755146462	1079	S>F		No	ClinGen ExAC TOPMed gnomAD
CA5727435 COSM1250214 rs201802690 COSM1250216	1079	S>T	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs781055585 CA5727440	1081	N>D		No	ClinGen ExAC gnomAD
CA378576847 rs1203303271	1081	N>S		No	ClinGen gnomAD
rs781055585 CA378576843	1081	N>Y		No	ClinGen ExAC gnomAD
CA5727441 rs745679762	1082	C>G		No	ClinGen ExAC TOPMed gnomAD
CA378576862 rs1187301098	1083	G>D		No	ClinGen gnomAD
rs775018332 CA5727443 COSM1346450 COSM1346448	1084	H>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5727442 VAR_024802 rs2277244	1084	H>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs762724230 CA378576869	1085	S>G		No	ClinGen ExAC TOPMed gnomAD
CA378576871 rs768392729	1085	S>I		No	ClinGen ExAC TOPMed gnomAD
rs768392729 CA5727445	1085	S>N		No	ClinGen ExAC TOPMed gnomAD
CA5727444 rs762724230	1085	S>R		No	ClinGen ExAC TOPMed gnomAD
rs377379898 CA378576889	1087	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs895126681 CA215128921	1087	D>N		No	ClinGen TOPMed gnomAD
rs750891858 CA5727449	1088	A>G		No	ClinGen ExAC gnomAD
rs768172003 CA378576891	1088	A>S		No	ClinGen ExAC TOPMed gnomAD
rs768172003 CA5727448	1088	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1591401527 CA378576909	1090	V>G		No	ClinGen Ensembl
CA215128922 rs574927666	1090	V>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs754144160 CA5727452	1091	I>N		No	ClinGen ExAC TOPMed gnomAD
rs754144160 CA215128923	1091	I>T		No	ClinGen ExAC TOPMed gnomAD
CA5727451 rs182291307	1091	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5727495 rs143175745	1094	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5727454 rs779088156	1094	A>T		No	ClinGen ExAC TOPMed gnomAD
rs143175745 CA5727494	1094	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766342819 CA5727497	1095	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs200551848 VAR_057983 CA5727496	1095	S>P		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs753658240 CA5727498	1096	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs778915622 CA5727500	1096	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs754949135 CA5727499	1096	Q>R		No	ClinGen ExAC gnomAD
rs532371387 CA378577516	1097	S>F		No	ClinGen ExAC gnomAD
rs532371387 CA5727501	1097	S>Y		No	ClinGen ExAC gnomAD
rs191098913 CA5727505	1098	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs191098913 CA5727504	1098	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM2020480 rs377588744 COSM2020482 CA5727503	1098	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs770281969 CA5727508	1099	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1166331641 CA378577553	1100	T>I		No	ClinGen TOPMed
CA5727511 rs763253372	1101	P>A		No	ClinGen ExAC TOPMed gnomAD
rs774369241 CA5727512	1101	P>R		No	ClinGen ExAC TOPMed gnomAD
rs763253372 CA5727510	1101	P>T		No	ClinGen ExAC TOPMed gnomAD
rs535950821 CA378577578	1102	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs796230062 CA215129156	1102	S>T		No	ClinGen Ensembl
rs566926424 VAR_057984 CA5727514	1102	S>T		No	ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD
CA5727517 rs765239623	1103	P>L		No	ClinGen ExAC gnomAD
rs759583216 CA5727516	1103	P>T		No	ClinGen ExAC gnomAD
CA378577597 rs1307656040	1104	D>H		No	ClinGen gnomAD
CA378577772 rs1377216133	1106	W>S		No	ClinGen gnomAD
rs1464667104 CA378577787	1107	P>R		No	ClinGen gnomAD
CA5727548 rs749815554	1109	S>*		No	ClinGen ExAC gnomAD
CA378577819 rs749815554	1109	S>L		No	ClinGen ExAC gnomAD
rs372652149 CA5727551	1110	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1234581207 CA378577845	1112	S>T		No	ClinGen TOPMed
rs1462384955 CA378578163	1116	S>P		No	ClinGen TOPMed
CA378578212 rs879423631	1119	S>I		No	ClinGen TOPMed gnomAD
CA378578211 rs879423631	1119	S>N		No	ClinGen TOPMed gnomAD
CA215129405 rs879423631	1119	S>T		No	ClinGen TOPMed gnomAD
CA378578235 rs1345789953	1123	R>G		No	ClinGen TOPMed gnomAD
rs938007991 CA215129407	1123	R>M		No	ClinGen TOPMed
rs1345612785 CA378578249	1125	V>E		No	ClinGen gnomAD
CA378578270 rs1264263601	1128	G>V		No	ClinGen TOPMed
CA378578290 rs1211253854	1131	C>Y		No	ClinGen TOPMed
rs563215534 CA215129408	1132	Q>R		No	ClinGen 1000Genomes TOPMed gnomAD
rs894721508 CA215129410	1134	R>*		No	ClinGen TOPMed gnomAD
CA378578309 rs1333637720	1134	R>L		No	ClinGen TOPMed
COSM915632 COSM915634 CA378578310 rs1333637720	1134	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA378578312 rs1287078358	1135	V>M		No	ClinGen TOPMed gnomAD
rs1055179902 CA215129411	1137	V>F		No	ClinGen TOPMed
CA378578332 rs1460954203	1138	L>V		No	ClinGen TOPMed
CA378578344 rs1014556750	1140	R>*		No	ClinGen TOPMed gnomAD
CA215129412 rs1014556750	1140	R>G		No	ClinGen TOPMed gnomAD
CA215129413 rs888534293	1140	R>Q		No	ClinGen TOPMed gnomAD
rs1363441352 CA378578350	1141	G>D		No	ClinGen TOPMed
CA378578348 rs1487680756	1141	G>R		No	ClinGen gnomAD
CA378578356 rs1438923406	1142	S>F		No	ClinGen TOPMed gnomAD
rs1438923406 CA378578358	1142	S>Y		No	ClinGen TOPMed gnomAD
rs1421303381 CA378578365	1143	W>*		No	ClinGen TOPMed
CA378578374 rs1211871636	1145	T>P		No	ClinGen gnomAD
rs1482806782 CA378578380	1146	V>M		No	ClinGen gnomAD
rs1420778851 CA596579200	1150	Y>*		No	ClinGen gnomAD
rs1193516025 CA378578413	1150	Y>N		No	ClinGen TOPMed
rs755484058 CA5727566	1152	D>E		No	ClinGen ExAC TOPMed gnomAD
CA378578447 rs1171440288	1152	D>Y		No	ClinGen TOPMed gnomAD
rs779424059 CA5727567	1153	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1415757086 CA378578477	1154	N>S		No	ClinGen gnomAD
CA5727568 rs748496116	1158	V>M		No	ClinGen ExAC gnomAD
CA378578541 rs1304588394	1159	V>A		No	ClinGen gnomAD
CA378578566 rs1333920530	1161	R>K		No	ClinGen gnomAD
rs1305607747 CA378578595	1163	L>V		No	ClinGen gnomAD
CA215129416 rs1005677866	1164	G>D		No	ClinGen TOPMed
rs1337348905 CA378578625	1166	G>D		No	ClinGen TOPMed
rs758773696 CA5727569	1166	G>S		No	ClinGen ExAC gnomAD
rs1312562072 CA378578641	1167	W>L		No	ClinGen gnomAD
rs747296538 CA378578658	1168	A>G		No	ClinGen ExAC gnomAD
CA378578649 rs1320296291	1168	A>T		No	ClinGen gnomAD
rs747296538 CA5727571	1168	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA378578660 rs1341693309	1169	M>L		No	ClinGen TOPMed gnomAD
CA215129417 VAR_024803 rs149099696	1169	M>T		No	ClinGen UniProt dbSNP gnomAD
CA378578662 rs1341693309	1169	M>V		No	ClinGen TOPMed gnomAD
CA5727572 rs771275024	1170	S>L		No	ClinGen ExAC gnomAD
rs1177728475 CA378578726	1171	A>V		No	ClinGen gnomAD
rs1327929348 CA378578729	1172	P>A		No	ClinGen TOPMed
rs1255306847 CA378578737	1172	P>L		No	ClinGen TOPMed gnomAD
rs1591436212 CA378578759	1173	G>V		No	ClinGen Ensembl
rs371105355 CA5727575	1175	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA5727576 rs371105355	1175	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5727578 rs375997738	1176	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs761527369 VAR_024804 CA5727577	1176	R>W		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1355784617 CA378578831	1177	F>L		No	ClinGen gnomAD
CA5727579 rs772986097	1178	G>D		No	ClinGen ExAC gnomAD
CA378578861 rs1347217666	1179	Q>*		No	ClinGen TOPMed gnomAD
rs1347217666 CA378578860	1179	Q>E		No	ClinGen TOPMed gnomAD
CA215129419 rs527806117	1180	G>V		No	ClinGen 1000Genomes gnomAD
rs765991165 CA5727581	1181	S>L		No	ClinGen ExAC TOPMed gnomAD
rs753307012 CA5727582	1183	P>H		No	ClinGen ExAC gnomAD
rs1308158052 CA378578955	1186	L>Q		No	ClinGen gnomAD
CA5727585 rs753193351	1187	D>G		No	ClinGen ExAC gnomAD
CA5727586 rs758962768	1188	D>V		No	ClinGen ExAC TOPMed gnomAD
CA378578989 rs1482223563	1189	V>M		No	ClinGen gnomAD
rs778351758 CA5727587	1190	R>C		No	ClinGen ExAC TOPMed gnomAD
rs530150753 CA5727588	1190	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378579017 rs1591436748	1191	C>W		No	ClinGen Ensembl
rs1448585836 CA378579013	1191	C>Y		No	ClinGen gnomAD
CA378579054 rs1305601441	1194	H>Y		No	ClinGen TOPMed
CA378579098 rs1410097843	1197	Y>*		No	ClinGen gnomAD
rs1325890519 CA378579094	1197	Y>C		No	ClinGen TOPMed
CA378579113 rs1591436925	1199	W>R		No	ClinGen Ensembl
rs1357964859 CA378579138	1200	S>R		No	ClinGen gnomAD
CA378579207 rs1471262871	1205	G>V		No	ClinGen TOPMed gnomAD
CA378579238 rs1591436995	1207	L>R		No	ClinGen Ensembl
CA378579265 rs1373877536	1210	N>I		No	ClinGen TOPMed
CA378579264 rs1373877536	1210	N>S		No	ClinGen TOPMed
CA378579282 rs1591437046	1212	G>V		No	ClinGen Ensembl
rs1591437064 CA378579283	1213	H>N		No	ClinGen Ensembl
CA378579291 rs1337914427	1214	H>N		No	ClinGen gnomAD
CA378579295 rs1364944894	1214	H>R		No	ClinGen gnomAD
CA378579315 rs1168070232	1217	A>T		No	ClinGen TOPMed gnomAD
CA378579323 rs1166701005	1218	G>S		No	ClinGen TOPMed
CA378579396 rs1371068783	1227	Q>R		No	ClinGen TOPMed
rs1297582790 CA378579405	1228	P>L		No	ClinGen TOPMed
rs1462465030 CA378579421	1231	S>N		No	ClinGen TOPMed
CA378581937 rs1565852002	1239	H>R		No	ClinGen Ensembl
CA378582118 rs1565853717	1248	S>T		No	ClinGen Ensembl
CA378582294 rs1565853816	1261	Q>R		No	ClinGen Ensembl
rs1565853922 CA378582363	1269	R>Q		No	ClinGen Ensembl
CA378580782 rs1555003817	1282	T>I		No	ClinGen Ensembl
CA378582530 rs1555003870	1282	T>I		No	ClinGen Ensembl
rs1565854206 CA378582714	1298	T>M		No	ClinGen Ensembl
CA378582763 rs1565854328	1305	R>Q		No	ClinGen Ensembl
rs1555003824 CA378581059	1305	R>W		No	ClinGen Ensembl
rs1555003881 CA378582762	1305	R>W		No	ClinGen Ensembl
rs1555003833 CA378581245	1319	R>H		No	ClinGen Ensembl
rs1555003891 COSM3930949 CA378582857	1319	R>H	urinary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1555003907 CA378584128	1411	T>I		No	ClinGen Ensembl
CA378584325 rs1555003918 VAR_057985	1434	R>W		No	ClinGen Ensembl UniProt
rs1555003926 CA378584418	1448	R>H		No	ClinGen Ensembl
CA5727609 rs189970725	1491	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5727607 rs752147908	1491	D>G		No	ClinGen ExAC TOPMed gnomAD
rs751994478 CA5727610	1492	T>S		No	ClinGen ExAC gnomAD
rs757656340 CA5727611	1493	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1283909279 CA378584927	1494	P>Q		No	ClinGen gnomAD
CA378584925 rs1224197499	1494	P>S		No	ClinGen TOPMed gnomAD
CA378584922 rs1224197499	1494	P>T		No	ClinGen TOPMed gnomAD
rs1259686343 CA378584942	1495	T>A		No	ClinGen gnomAD
CA5727612 rs371686492	1495	T>S		No	ClinGen ESP ExAC gnomAD
COSM3396959 CA5727614 rs756284043 COSM3396961	1496	S>C	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs756284043 CA378584976	1496	S>F		No	ClinGen ExAC gnomAD
COSM3686548 CA5727616 COSM3686550 rs374958699	1497	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
COSM4144409 CA5727617 COSM4144407 rs148891350	1497	R>H	thyroid [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1199493336 CA378585013	1498	A>V		No	ClinGen gnomAD
rs925820309 CA215129493	1499	S>*		No	ClinGen gnomAD
rs746807256 CA5727619	1500	T>A		No	ClinGen ExAC TOPMed gnomAD
CA378585043 rs1409190095	1500	T>R		No	ClinGen gnomAD
rs770705963 CA5727620	1501	A>T		No	ClinGen ExAC gnomAD
CA5727664 rs772661670	1503	S>P		No	ClinGen ExAC gnomAD
rs947716909 CA215129645	1503	S>Y		No	ClinGen TOPMed gnomAD
CA215129646 rs185145281	1504	E>G		No	ClinGen 1000Genomes
rs773521067 CA5727665	1505	S>F		No	ClinGen ExAC gnomAD
rs761112046 CA5727666	1506	T>P		No	ClinGen ExAC TOPMed gnomAD
rs761112046 CA5727667	1506	T>S		No	ClinGen ExAC TOPMed gnomAD
rs550777735 CA5727668	1506	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378585268 rs1365053223	1507	L>F		No	ClinGen TOPMed
rs759799112 CA5727669	1510	R>G		No	ClinGen ExAC TOPMed gnomAD
CA378585340 rs1265843403	1512	V>L		No	ClinGen gnomAD
CA378585363 rs752845588	1513	N>I		No	ClinGen ExAC TOPMed gnomAD
rs762901314 CA5727672	1513	N>K		No	ClinGen ExAC TOPMed gnomAD
CA5727671 rs752845588	1513	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5727674 rs750271694	1515	G>A		No	ClinGen ExAC gnomAD
rs780033319 CA5727676 COSM3806637 COSM3806639	1516	D>E	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1377164885 CA378585400	1516	D>N		No	ClinGen gnomAD
CA378585431 rs753664514	1517	R>S		No	ClinGen ExAC gnomAD
CA5727679 rs376142921	1518	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA5727678 rs376142921	1518	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA5727681 rs746471340	1519	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs765143474 CA378585460	1519	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5727682 rs765143474	1519	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5727684 rs771399919	1520	G>C		No	ClinGen ExAC
CA5727687 rs770034352	1521	R>*		No	ClinGen ExAC TOPMed gnomAD
COSM537735 COSM537737 rs775509248 CA378585488	1521	R>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5727688 rs775509248	1521	R>P		No	ClinGen ExAC TOPMed gnomAD
CA215129647 COSM915640 rs775509248 COSM915638	1521	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA378585490 rs1285818396	1522	V>M		No	ClinGen TOPMed gnomAD
rs763108739 CA5727690	1524	V>F		No	ClinGen ExAC gnomAD
rs763108739 CA5727689	1524	V>I		No	ClinGen ExAC gnomAD
CA5727691 rs751625963	1525	L>P		No	ClinGen ExAC gnomAD
CA378585521 rs1228212016	1525	L>V		No	ClinGen gnomAD
COSM537732 rs1205960630 COSM537734 CA378585542	1526	Y>*	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA215129648 rs943938844	1527	Q>*		No	ClinGen TOPMed gnomAD
RCV000960922 rs150706313 CA5727692	1527	Q>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1340328117 CA378585564	1528	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs566954927 CA5727693	1528	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1011998009 CA215129649	1529	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA215129650 rs903262454	1531	G>S		No	ClinGen TOPMed gnomAD
CA5727697 rs752348276	1533	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA378585636 rs1591459645	1534	C>Y		No	ClinGen Ensembl
rs758061982 CA5727698	1535	D>V		No	ClinGen ExAC gnomAD
CA378585669 rs61622276	1536	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378585664 rs1422686231	1536	D>G		No	ClinGen TOPMed
CA378585656 rs1476696699	1536	D>N		No	ClinGen TOPMed
CA5727700 rs746508310	1537	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1013149031 CA215129652	1537	Y>C		No	ClinGen TOPMed gnomAD
CA215129651 rs960214751	1537	Y>N		No	ClinGen TOPMed gnomAD
rs771453352 CA5727701	1538	W>L		No	ClinGen ExAC gnomAD
rs995637025 CA215129653	1540	T>I		No	ClinGen Ensembl
rs781635770 CA5727702	1541	N>H		No	ClinGen ExAC gnomAD
rs878945810 CA215129655	1541	N>S		No	ClinGen Ensembl
rs746236693 CA5727703	1543	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5727704 rs770087909	1543	A>V		No	ClinGen ExAC gnomAD
rs775911634 CA5727705	1544	N>S		No	ClinGen ExAC gnomAD
VAR_024805 CA5727708 rs189221852	1545	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA378586087 rs1591460362	1546	V>A		No	ClinGen Ensembl
CA5727710 rs761943078	1546	V>L		No	ClinGen ExAC gnomAD
rs1248319604 CA378586112	1548	R>S		No	ClinGen TOPMed gnomAD
CA378586115 rs1420718206	1549	Q>K		No	ClinGen TOPMed gnomAD
CA5727707 rs779120641	1552	C>H		No	ClinGen ExAC
rs1353776854 CA378586166	1553	G>D		No	ClinGen gnomAD
CA378586179 rs1384124667	1554	W>L		No	ClinGen Ensembl
rs146160070 CA5727713	1555	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201501182 CA5727715 CA5727714	1556	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs958248943 CA215129659	1556	M>T		No	ClinGen gnomAD
CA378586206 rs1376137563	1557	S>T		No	ClinGen gnomAD
rs540411429 CA378586221	1558	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5727716 rs540411429	1558	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs763757917 CA5727717	1559	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5727718 rs751105407	1560	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1292686776 CA378586252	1562	A>D		No	ClinGen gnomAD
rs1202512978 CA378586259	1563	Q>*		No	ClinGen gnomAD
rs374308103 CA5727720	1563	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5727721 rs199926044	1564	F>L		No	ClinGen ExAC TOPMed gnomAD
CA378586271 rs1196268911	1564	F>S		No	ClinGen gnomAD
rs560035067 CA378586291	1565	G>C		No	ClinGen 1000Genomes ExAC gnomAD
rs560035067 CA5727722	1565	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
COSM537731 CA5727723 COSM537729 rs377104506	1565	G>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs768792206 CA5727725	1566	Q>*		No	ClinGen ExAC gnomAD
rs202126535 CA5727726	1566	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA5727729 rs773418616	1567	G>D		No	ClinGen ExAC TOPMed gnomAD
CA5727728 rs374931158	1567	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5727727 rs374931158	1567	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA378586339 rs773418616	1567	G>V		No	ClinGen ExAC TOPMed gnomAD
rs542292365 CA5727731	1569	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs775173681 CA378586398	1570	P>A		No	ClinGen ExAC TOPMed gnomAD
CA5727732 rs775173681	1570	P>S		No	ClinGen ExAC TOPMed gnomAD
CA378586479 rs1361505719	1572	V>A		No	ClinGen gnomAD
rs1316061809 CA378586475	1572	V>F		No	ClinGen gnomAD
rs367653910 CA5727734	1577	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5727735 rs751154755	1577	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5727736 rs756891288	1578	C>S		No	ClinGen ExAC gnomAD
rs1466682207 CA378586597	1578	C>Y		No	ClinGen gnomAD
rs749911769 CA5727738	1579	S>*		No	ClinGen ExAC
CA5727741 rs780570242	1580	G>E		No	ClinGen ExAC TOPMed gnomAD
rs140113910 CA5727739	1580	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780570242 CA5727740	1580	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1421037484 CA378586658	1581	H>P		No	ClinGen gnomAD
rs200418093 CA5727743 COSM915643 CA378586660 COSM915641	1581	H>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD NCI-TCGA
CA5727744 rs748445351	1582	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378586693 rs772389879	1583	S>C		No	ClinGen ExAC TOPMed gnomAD
CA5727746 rs772389879	1583	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs747039304 CA5727748	1587	S>G		No	ClinGen ExAC gnomAD
rs1184285516 CA378586771	1587	S>R		No	ClinGen TOPMed
CA5727749 rs769653651	1590	H>N		No	ClinGen ExAC gnomAD
rs775435457 CA5727751	1590	H>P		No	ClinGen ExAC gnomAD
CA5727750 rs775435457	1590	H>R		No	ClinGen ExAC gnomAD
CA378586831 rs368566929	1591	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs550822602 CA5727753	1593	W>*		No	ClinGen 1000Genomes ExAC gnomAD
CA215129661 rs369964334	1594	L>F		No	ClinGen gnomAD
CA5727754 rs761495688	1594	L>P		No	ClinGen ExAC gnomAD
rs1316056137 CA378586904	1595	S>F		No	ClinGen TOPMed gnomAD
rs754496710 CA215129662	1595	S>T		No	ClinGen TOPMed gnomAD
rs1316056137 CA378586901	1595	S>Y		No	ClinGen TOPMed gnomAD
rs1243480687 CA378586934	1597	N>K		No	ClinGen gnomAD
rs1213212024 CA378586931	1597	N>S		No	ClinGen gnomAD
rs760163771 CA5727757	1598	C>F		No	ClinGen ExAC gnomAD
CA5727758 rs766809988	1599	G>A		No	ClinGen ExAC gnomAD
CA378586946 rs1198038550	1599	G>S		No	ClinGen gnomAD
rs1481724206 CA378586960	1600	H>P		No	ClinGen gnomAD
CA378586961 rs1481724206	1600	H>R		No	ClinGen gnomAD
rs566212962 CA5727759	1601	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1407732561 CA378586974	1601	H>R		No	ClinGen gnomAD
CA215129663 rs566212962	1601	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA378587000 rs1565876262	1603	D>G		No	ClinGen Ensembl
CA5727761 rs779456612	1605	G>A		No	ClinGen ExAC gnomAD
rs753087620 CA5727762	1607	I>V		No	ClinGen ExAC gnomAD
CA5727765 rs747067265	1609	S>L		No	ClinGen ExAC TOPMed gnomAD
rs778104356 CA5727764	1609	S>P		No	ClinGen ExAC gnomAD
CA5727766 rs770990019	1610	A>S		No	ClinGen ExAC gnomAD
CA5727767 rs770990019	1610	A>T		No	ClinGen ExAC gnomAD
CA5727796 rs776224529	1611	A>S		No	ClinGen ExAC gnomAD
rs1394375900 CA378587257	1612	Q>P		No	ClinGen gnomAD
CA5727798 rs758931632	1613	S>F		No	ClinGen ExAC gnomAD
rs1591473212 CA378587272	1613	S>P		No	ClinGen Ensembl
rs765847799 CA5727800	1615	S>L		No	ClinGen ExAC gnomAD
CA5727802 rs776086353	1616	T>K		No	ClinGen ExAC TOPMed gnomAD
CA5727801 rs776086353	1616	T>M		No	ClinGen ExAC TOPMed gnomAD
CA5727804 rs138223632	1618	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA5727805 rs757550789	1618	R>S		No	ClinGen ExAC gnomAD
CA5727806 rs767592252	1619	P>S		No	ClinGen ExAC TOPMed gnomAD
rs767592252 CA378587410	1619	P>T		No	ClinGen ExAC TOPMed gnomAD
CA378587983 rs1349026307	1620	D>A		No	ClinGen TOPMed
rs769540990 CA5727839	1621	T>I		No	ClinGen ExAC TOPMed gnomAD
rs769540990 CA5727838	1621	T>S		No	ClinGen ExAC TOPMed gnomAD
rs886149609 CA215130142	1623	L>P		No	ClinGen Ensembl
CA5727840 rs748761996	1624	T>N		No	ClinGen ExAC gnomAD
rs769208775 CA5727841	1625	T>I		No	ClinGen ExAC TOPMed gnomAD
CA378588069 rs1456044590	1626	N>H		No	ClinGen TOPMed
CA5727842 rs374102516	1628	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs374102516 CA378588118	1628	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5727845 rs187427297 RCV000905730	1630	L>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1332106300 CA378588156	1631	T>A		No	ClinGen gnomAD
rs1181344114 CA378588172	1631	T>I		No	ClinGen TOPMed
CA378588183 rs1353080240	1632	V>A		No	ClinGen gnomAD
RCV000905731 rs192235573 CA5727846	1632	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1476169105 CA378588329	1637	S>R		No	ClinGen TOPMed
rs760986699 CA5727865	1637	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1591486327 CA378588378	1639	A>G		No	ClinGen Ensembl
CA5727867 rs776777502	1641	R>T		No	ClinGen ExAC gnomAD
CA378588433 rs1447963743	1643	V>G		No	ClinGen gnomAD
CA5727869 rs368409288	1643	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5727870 rs752790595	1644	N>S		No	ClinGen ExAC gnomAD
CA5727871 rs372289099	1645	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs941531148 CA215130337	1646	G>S		No	ClinGen TOPMed
rs987650942 CA215130338	1646	G>V		No	ClinGen TOPMed gnomAD
CA378588540 rs779978408	1647	D>E		No	ClinGen ExAC gnomAD
rs755912293 CA5727874	1647	D>G		No	ClinGen ExAC gnomAD
CA378588557 rs1199016220	1648	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1661475 COSM1661477 CA5727876 rs375631647	1650	R>*	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs754623524 CA5727877	1650	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5727878 rs778336161	1652	R>*		No	ClinGen ExAC gnomAD
rs199501579 CA5727880	1652	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5727879 rs199501579	1652	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1591486896 CA378588731	1655	V>G		No	ClinGen Ensembl
CA5727882 rs747389264	1655	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378588750 rs1450479035	1657	Y>C		No	ClinGen TOPMed gnomAD
rs201883302 CA5727885	1658	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770039772 COSM915646 CA5727886 COSM915644	1658	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5727890 COSM915649 COSM915647 rs201780709	1664	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA5727891 rs760683143	1666	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs150865923 CA5727892	1667	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754609896 CA5727894	1668	S>C		No	ClinGen ExAC gnomAD
CA378588892 rs764903103	1668	S>I		No	ClinGen ExAC TOPMed gnomAD
CA5727895 rs764903103	1668	S>N		No	ClinGen ExAC TOPMed gnomAD
rs757865614 CA5727897	1671	T>N		No	ClinGen ExAC gnomAD
rs777254019 CA5727898	1672	N>D		No	ClinGen ExAC gnomAD
CA5727899 rs747583716	1672	N>S		No	ClinGen ExAC TOPMed gnomAD
rs757731283 CA5727900	1673	D>E		No	ClinGen ExAC TOPMed gnomAD
CA378588972 rs1416516421	1675	N>S		No	ClinGen gnomAD
CA378589009 rs1344807932	1677	V>F		No	ClinGen TOPMed gnomAD
CA378589004 rs1344807932	1677	V>I		No	ClinGen TOPMed gnomAD
CA5727902 rs746199475	1680	Q>K		No	ClinGen ExAC gnomAD
rs1400555228 CA378589087	1681	L>R		No	ClinGen TOPMed gnomAD
rs1322799487 CA378589100	1682	G>A		No	ClinGen TOPMed gnomAD
CA378589156 rs1282487798	1685	W>*		No	ClinGen gnomAD
rs775717612 CA378589163	1686	A>D		No	ClinGen ExAC gnomAD
CA5727904 rs775717612	1686	A>G		No	ClinGen ExAC gnomAD
CA5727906 rs749343206	1687	M>K		No	ClinGen ExAC TOPMed gnomAD
rs749343206 CA5727905	1687	M>T		No	ClinGen ExAC TOPMed gnomAD
CA5727907 rs202031071	1688	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202031071 CA378589193	1688	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA215130389 rs994742622	1690	P>S		No	ClinGen Ensembl
rs1369722659 CA378589242	1691	G>V		No	ClinGen TOPMed
CA378589255 rs1287556659	1692	N>I		No	ClinGen gnomAD
rs749268445 CA215130390	1693	A>V		No	ClinGen Ensembl
CA5727911 rs111726992	1694	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5727912 rs111726992	1694	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM915652 CA5727913 COSM915650 rs111726992	1694	R>Q	kidney Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs545733226 COSM427187 COSM427185 CA5727910	1694	R>W	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs758043812 CA5727914	1695	F>C		No	ClinGen ExAC gnomAD
rs953311912 CA215130403	1696	G>D		No	ClinGen TOPMed gnomAD
rs1407666685 CA378589351	1699	S>L		No	ClinGen gnomAD
CA215130410 rs369067660	1701	P>L		No	ClinGen ESP TOPMed gnomAD
rs774992259 CA215130407	1701	P>S		No	ClinGen Ensembl
CA5727917 rs757788383	1705	D>G		No	ClinGen ExAC TOPMed gnomAD
rs756445282 CA5727920	1706	D>G		No	ClinGen ExAC gnomAD
rs750760735 CA5727919	1706	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750760735 CA378589452	1706	D>Y		No	ClinGen ExAC gnomAD
rs749561534 CA215130420	1707	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5727922 rs749561534	1707	V>M		No	ClinGen ExAC TOPMed gnomAD
rs200821930 CA5727924	1708	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5727925 rs748198152	1708	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5727926 rs770996669	1710	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5727927 rs776572095	1711	G>E		No	ClinGen ExAC gnomAD
rs769699362 CA5727929	1712	N>H		No	ClinGen ExAC TOPMed gnomAD
CA5727931 rs762644039	1713	E>K		No	ClinGen ExAC gnomAD
rs1254786086 CA378589636	1714	S>A		No	ClinGen TOPMed
CA378589643 rs1479826477	1714	S>C		No	ClinGen gnomAD
CA378589639 COSM1603089 COSM1603087 rs1479826477	1714	S>F	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA378589749 rs1444123770	1717	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5727934 rs761250550	1718	S>C		No	ClinGen ExAC gnomAD
rs767925651 CA5727935	1718	S>N		No	ClinGen ExAC TOPMed gnomAD
CA378589818 rs1418611451	1720	P>T		No	ClinGen TOPMed gnomAD
rs200348645 CA5727937	1721	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5727938 rs780513072	1721	H>P		No	ClinGen ExAC TOPMed gnomAD
CA378589867 rs1382686650	1721	H>Q		No	ClinGen TOPMed
CA215130458 rs780513072	1721	H>R		No	ClinGen ExAC TOPMed gnomAD
rs200348645 CA378589846	1721	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs377489432 CA5727939	1722	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA378589905 rs1301020865	1723	G>R		No	ClinGen TOPMed
rs370656275 CA5727940	1726	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA215130466 rs916182247	1727	H>N		No	ClinGen Ensembl
rs779210171 CA5727942	1728	N>K		No	ClinGen ExAC TOPMed gnomAD
rs772251223 CA5727943	1729	C>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA378590170 rs1565903803	1730	G>A		No	ClinGen Ensembl
rs745860277 CA5727945	1731	H>P		No	ClinGen ExAC TOPMed gnomAD
rs745860277 CA378590189	1731	H>R		No	ClinGen ExAC TOPMed gnomAD
CA5727948 rs201533269	1732	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5727946 rs201533269	1732	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200490714 CA5727951	1732	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199679394 CA5727949	1732	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_024806	1732	H>S	requires 2 nucleotide substitutions [UniProt]	No	UniProt
rs201533269 CA5727947	1732	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs115542822 CA5727952	1733	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1045906158 COSM274802 CA215130565 COSM915656	1733	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs570304514 CA5727955	1735	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs570304514 CA5727956	1735	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs570304514 CA5727954	1735	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA378590428 rs1239289086	1737	V>I		No	ClinGen gnomAD
rs1424082192 CA378591318	1742	T>S		No	ClinGen gnomAD
rs370682186 CA5727973	1743	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA378591327 rs1469100488	1743	Q>R		No	ClinGen gnomAD
CA378591340 rs1378445273	1745	N>S		No	ClinGen gnomAD
CA378591352 rs1403880203	1747	T>A		No	ClinGen gnomAD
CA5727974 rs368472779	1748	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1337689971 CA378591366	1749	T>K		No	ClinGen gnomAD
CA378591381 rs762092774	1750	D>G		No	ClinGen ExAC gnomAD
rs371606822 CA215132920	1750	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs371606822 CA5727976	1750	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5727999 rs762092774	1750	D>V		No	ClinGen ExAC gnomAD
rs989629244 CA215133276	1751	W>C		No	ClinGen TOPMed
rs560880257 CA5728000	1751	W>G		No	ClinGen 1000Genomes ExAC gnomAD
CA5728002 rs754937590	1751	W>L		No	ClinGen ExAC gnomAD
CA5728001 rs560880257	1751	W>R		No	ClinGen 1000Genomes ExAC gnomAD
rs914075616 CA215133282	1753	H>R		No	ClinGen TOPMed gnomAD
rs752549153 CA5728004	1757	T>A		No	ClinGen ExAC gnomAD
CA5728005 rs758184234	1758	T>I		No	ClinGen ExAC gnomAD
rs746678951 CA5728007	1760	A>T		No	ClinGen ExAC
rs976559906 CA215136379	1761	R>K		No	ClinGen TOPMed
rs201051943 CA5728029	1762	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs201051943 CA378592012	1762	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA378592031 rs1252024828	1763	S>A		No	ClinGen TOPMed
COSM369544 CA5728031 rs769188233 COSM369546	1768	G>D	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs749803265 CA5728030	1768	G>R		No	ClinGen ExAC gnomAD
CA378592258 rs999926273	1772	Y>*		No	ClinGen gnomAD
CA5728033 rs774605711	1778	S>Y		No	ClinGen ExAC gnomAD
rs1175680925 CA378592390	1779	S>R		No	ClinGen gnomAD
CA378592396 rs1476790191	1780	P>A		No	ClinGen TOPMed gnomAD
CA5728035 rs772293030	1780	P>L		No	ClinGen ExAC gnomAD
rs891689636 CA215136430	1783	P>L		No	ClinGen Ensembl
rs144313124 CA5728037	1783	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs549305010 CA215136431	1784	A>E		No	ClinGen 1000Genomes
CA5728038 rs766409222	1785	Y>*		No	ClinGen ExAC gnomAD
rs1565959717 CA378592498	1785	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA5728039 rs776750032	1786	Y>C		No	ClinGen ExAC
rs377585197 CA5728040	1787	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs377585197 CA5728041	1787	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1565960021 CA378592565	1788	N>K		No	ClinGen Ensembl
CA5728042 rs200265932	1788	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378592575 rs1484733624	1789	N>S		No	ClinGen TOPMed
rs757061553 CA5728043	1790	A>T		No	ClinGen ExAC gnomAD
CA5728044 rs767410970	1792	C>R		No	ClinGen ExAC gnomAD
CA378592623 rs767410970	1792	C>S		No	ClinGen ExAC gnomAD
CA5728045 rs750170346	1793	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5728046 rs755801308	1794	W>C		No	ClinGen ExAC
rs1211744150 CA378592689	1795	E>K		No	ClinGen gnomAD
rs538079484 CA5728047	1797	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA378592765 rs1265944900	1798	V>A		No	ClinGen gnomAD
CA5728048 rs748789089	1798	V>M		No	ClinGen ExAC gnomAD
rs1301299015 CA378592772	1799	N>D		No	ClinGen TOPMed
rs755440936 CA5728049	1800	S>A		No	ClinGen ExAC TOPMed gnomAD
rs755440936 CA378592786	1800	S>P		No	ClinGen ExAC TOPMed gnomAD
rs371156436 CA215136494	1801	G>D		No	ClinGen Ensembl
rs373094462 CA5728050	1803	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs376854088 CA5728051	1803	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs773532559 CA5728053	1804	I>M		No	ClinGen ExAC TOPMed gnomAD
CA378592910 rs747280704	1805	N>K		No	ClinGen ExAC gnomAD
CA378592938 rs1455780920	1806	L>P		No	ClinGen TOPMed
CA5728056 rs771135160	1807	G>D		No	ClinGen ExAC gnomAD
CA5728057 rs776606070	1809	S>I		No	ClinGen ExAC gnomAD
CA378593015 COSM1316746 COSM1316748 rs1431341687	1810	N>D	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5728058 rs759593893	1810	N>K		No	ClinGen ExAC gnomAD
rs1591544054 CA378593022	1810	N>S		No	ClinGen Ensembl
CA378593233 rs1238935022	1815	A>T		No	ClinGen gnomAD
CA5728078 rs775683568	1816	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs199684893 CA5728079	1817	H>R		No	ClinGen ExAC TOPMed gnomAD
rs772090187 CA5728080	1818	N>D		No	ClinGen ExAC gnomAD
rs773141977 CA5728082	1820	S>N		No	ClinGen ExAC gnomAD
rs773141977 CA5728081	1820	S>T		No	ClinGen ExAC gnomAD
rs1165421532 CA378593342	1821	F>L		No	ClinGen gnomAD
rs1463747395 CA378593450	1827	F>S		No	ClinGen TOPMed gnomAD
CA378593448 rs1463747395	1827	F>Y		No	ClinGen TOPMed gnomAD
rs1442119392 CA378593506	1829	G>E		No	ClinGen TOPMed
CA5728083 rs201261048	1830	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5728085 rs556058757	1832	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1328970652 CA378593576	1833	S>C		No	ClinGen TOPMed
rs764774305 CA5728087	1836	L>P		No	ClinGen ExAC TOPMed gnomAD
rs267602397 CA5728088	1838	G>E		No	ClinGen ExAC gnomAD
rs1001312809 CA215136910	1841	C>Y		No	ClinGen Ensembl
rs1239247200 CA378593741	1843	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs778186760 CA5728090	1843	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs751935805 CA5728091	1844	T>A		No	ClinGen ExAC TOPMed gnomAD
CA5728092 rs757700240	1845	R>G		No	ClinGen ExAC gnomAD
rs1476715559 CA378593769	1845	R>S		No	ClinGen TOPMed gnomAD
rs1156703528 CA378593777	1846	Q>L		No	ClinGen TOPMed
CA5728093 rs781407132	1847	I>R		No	ClinGen ExAC TOPMed gnomAD
rs746144599 CA5728094	1849	T>I		No	ClinGen ExAC TOPMed gnomAD
CA378593852 rs1413503709	1852	Y>H		No	ClinGen TOPMed gnomAD
CA5728095 rs769888802	1853	N>S		No	ClinGen ExAC gnomAD
rs780307703 CA5728096	1854	R>*		No	ClinGen ExAC gnomAD
CA378593885 rs1053096728	1854	R>L		No	ClinGen TOPMed
CA215136988 rs1053096728	1854	R>Q		No	ClinGen TOPMed
CA5728097 rs749343489	1855	M>V		No	ClinGen ExAC gnomAD
rs772145606 CA5728098	1857	I>T		No	ClinGen ExAC gnomAD
rs1338961956 CA378593920	1857	I>V		No	ClinGen gnomAD
rs1271089354 CA378594383	1859	F>C		No	ClinGen gnomAD
CA5728099 rs143073434	1860	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
VAR_044418 rs7099177 CA5728100	1860	R>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs7099177 COSM915663 COSM915665 CA5728101	1860	R>Q	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs776266415 CA5728102	1863	I>L		No	ClinGen ExAC gnomAD
rs759252739 CA378594427	1863	I>N		No	ClinGen ExAC TOPMed gnomAD
CA5728103 rs759252739	1863	I>T		No	ClinGen ExAC TOPMed gnomAD
CA378594432 rs1211594333	1864	S>G		No	ClinGen TOPMed gnomAD
CA378594450 rs1262348937	1865	F>S		No	ClinGen gnomAD
rs764828234 CA5728104	1866	Q>*		No	ClinGen ExAC gnomAD
CA378594458 rs764828234	1866	Q>E		No	ClinGen ExAC gnomAD
CA378594482 rs1191145177	1868	T>P		No	ClinGen gnomAD
CA378594490 rs1373389944	1869	G>S		No	ClinGen gnomAD
CA378594530 rs1170381782	1872	A>D		No	ClinGen gnomAD
rs762391705 CA5728106	1873	W>S		No	ClinGen ExAC gnomAD
rs763582805 CA5728107	1874	Y>C		No	ClinGen ExAC gnomAD
CA378594566 rs1420862476	1875	N>T		No	ClinGen Ensembl
COSM682983 rs757677103 COSM682985 CA5728109	1879	S>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs200827766 CA5728110	1879	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs756440328 CA215141046	1880	D>H		No	ClinGen ExAC TOPMed gnomAD
rs756440328 CA5728112 COSM1346460 COSM1346462	1880	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5728132 rs754150614	1882	T>I		No	ClinGen ExAC TOPMed gnomAD
rs755226740 CA5728133	1884	R>W		No	ClinGen ExAC TOPMed gnomAD
CA378594729 rs1235892656	1886	V>L		No	ClinGen gnomAD
CA378594801 rs1183216494	1892	Y>C		No	ClinGen gnomAD
CA215141571 rs867385580	1893	G>C		No	ClinGen gnomAD
CA378594809 rs867385580	1893	G>R		No	ClinGen gnomAD
CA378594811 rs1167588095	1893	G>V		No	ClinGen gnomAD
rs957213188 CA215141584	1894	L>P		No	ClinGen TOPMed
CA378594825 rs1465308962	1895	C>R		No	ClinGen gnomAD
CA378594844 rs1379290360	1897	G>R		No	ClinGen TOPMed gnomAD
COSM1203787 CA5728141 COSM1203785 rs367889743	1898	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs768251433 CA5728143	1898	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5728142 rs367889743	1898	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs773946911 CA5728144	1899	V>A		No	ClinGen ExAC TOPMed gnomAD
CA5728145 rs761165814	1900	E>K		No	ClinGen ExAC gnomAD
rs1303854660 CA378594913	1903	H>R		No	ClinGen TOPMed
rs1361705487 CA378594940	1906	T>P		No	ClinGen TOPMed
CA378594960 rs1481356132	1907	W>*		No	ClinGen gnomAD
rs766897872 CA5728149	1909	T>I		No	ClinGen ExAC gnomAD
rs754204092 CA5728150	1913	D>G		No	ClinGen ExAC gnomAD
rs960655197 CA378595034	1914	S>F		No	ClinGen TOPMed gnomAD
CA215141669 rs960655197	1914	S>Y		No	ClinGen TOPMed gnomAD
CA5728155 rs777905448	1917	I>T		No	ClinGen ExAC TOPMed gnomAD
rs377293429 CA5728154	1917	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5728156 rs754403299	1918	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs756025127 CA5728157	1919	E>Q		No	ClinGen ExAC gnomAD
CA378595096 rs1565974008	1920	A>S		No	ClinGen Ensembl
CA5728161 rs768362744	1922	V>A		No	ClinGen ExAC TOPMed
CA5728159 rs749045338	1922	V>L		No	ClinGen ExAC gnomAD
CA5728162 rs778375369	1923	V>I		No	ClinGen ExAC gnomAD
rs1426445435 CA378595217	1927	L>V		No	ClinGen TOPMed
CA5728163 rs747828097	1930	G>R		No	ClinGen ExAC gnomAD
CA5728164 rs369485069 COSM1346465 COSM1346463	1931	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
COSM915666 CA5728166 rs372441080 COSM915668	1931	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA378595281 rs372441080	1931	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378595326 rs1210342418	1935	A>T		No	ClinGen TOPMed
CA215141775 rs753874660	1935	A>V		No	ClinGen TOPMed gnomAD
CA215141779 rs564836236	1936	L>P		No	ClinGen 1000Genomes
CA5728169 rs777138564	1939	A>E		No	ClinGen ExAC gnomAD
CA215141788 rs909330297	1940	Y>C		No	ClinGen TOPMed gnomAD
rs759921065 CA5728171	1942	G>C		No	ClinGen ExAC gnomAD
CA5728170 rs759921065	1942	G>R		No	ClinGen ExAC gnomAD
rs941183886 CA215141806	1942	G>V		No	ClinGen Ensembl
rs752930747 CA5728172	1943	S>F		No	ClinGen ExAC gnomAD
CA378595447 rs1191996073	1944	G>V		No	ClinGen gnomAD
rs1039435367 CA215141837	1945	S>P		No	ClinGen Ensembl
CA5728175 rs751592621	1946	G>D		No	ClinGen ExAC gnomAD
CA378595495 rs1376061750	1950	L>R		No	ClinGen gnomAD
CA5728177 COSM682980 rs369454959 COSM682982	1952	D>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA5728178 rs753651349	1952	D>V		No	ClinGen ExAC gnomAD
CA5728180 rs778735182	1954	E>A		No	ClinGen ExAC gnomAD
CA378595562 rs1591552845	1956	S>*		No	ClinGen Ensembl
CA5728182 rs747800707	1957	G>E		No	ClinGen ExAC TOPMed gnomAD
rs747800707 CA5728181	1957	G>V		No	ClinGen ExAC TOPMed gnomAD
CA5728183 rs183604937	1958	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_024807	1961	T>P		No	UniProt
CA378595618 rs1235818602	1962	L>F		No	ClinGen gnomAD
rs1280372977 CA378595622	1962	L>P		No	ClinGen gnomAD
CA5728186 rs549756748	1963	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1565976225 CA378595625	1963	W>R		No	ClinGen Ensembl
rs760083900 CA5728187	1964	Q>*		No	ClinGen ExAC gnomAD
CA215141931 rs1050749482	1964	Q>R		No	ClinGen TOPMed gnomAD
CA5728189 rs202040313	1966	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs369082605 CA5728188	1966	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM3396964 CA378595681 rs1265509713 COSM3396962	1968	R>*	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs149958745 CA5728190	1968	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378595699 rs1174371380	1970	W>*		No	ClinGen gnomAD
CA378595695 rs1245135701	1970	W>R		No	ClinGen gnomAD
CA5728191 rs370648949	1971	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5728193 rs761827041	1977	H>Q		No	ClinGen ExAC gnomAD
CA5728192 rs751645926	1977	H>R		No	ClinGen ExAC gnomAD
CA5728194 rs747972203 COSM1346466 COSM1346468	1978	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs747972203 CA378595767	1978	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM427188 COSM427189 rs146475455 CA5728195	1978	R>H	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA378595789 rs1368357905	1981	A>V		No	ClinGen TOPMed gnomAD
CA5728196 rs754917957	1982	G>A		No	ClinGen ExAC TOPMed
CA378595853 rs1016233126	1989	H>L		No	ClinGen TOPMed gnomAD
CA5728214 rs773225123	1989	H>Q		No	ClinGen ExAC gnomAD
CA215142572 rs1016233126	1989	H>R		No	ClinGen TOPMed gnomAD
CA378595855 rs1206739663	1990	L>I		No	ClinGen gnomAD
CA5728216 rs140229076	1991	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1470481342 CA378595862	1991	S>P		No	ClinGen TOPMed gnomAD
rs1476047879 CA378595866	1992	T>A		No	ClinGen gnomAD
RCV000900638 rs189862352 CA5728218	1993	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA215143490 rs867737779	1995	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA378595924 rs1015170025	1999	I>F		No	ClinGen TOPMed gnomAD
CA215143492 rs1015170025	1999	I>V		No	ClinGen TOPMed gnomAD
CA5728238 rs761560604	2000	T>I		No	ClinGen ExAC gnomAD
CA378595929 rs1591565708	2000	T>P		No	ClinGen Ensembl
CA215143520 rs189464773	2001	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
rs78385368 CA5728239	2001	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs78385368 CA5728240	2001	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs78385368 CA378595936	2001	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs182056042 CA215143878	2004	T>R		No	ClinGen 1000Genomes
rs895372681 CA215143889	2005	D>N		No	ClinGen TOPMed gnomAD
rs779346078 CA5728265	2008	C>W		No	ClinGen ExAC gnomAD
CA5728268 rs747314121	2009	G>E		No	ClinGen ExAC gnomAD
CA5728266 rs553177521 CA5728267	2009	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1446102428 CA378596039	2010	G>A		No	ClinGen gnomAD
rs781336308 CA5728270	2013	S>Y		No	ClinGen ExAC gnomAD
rs1279935403 CA378596088	2014	Q>H		No	ClinGen gnomAD
rs745901681 CA5728271	2015	P>S		No	ClinGen ExAC TOPMed gnomAD
rs377323485 CA5728273	2016	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs377323485 CA5728272	2016	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5728274 rs761807920	2017	G>V		No	ClinGen ExAC gnomAD
rs79160954 CA215143983	2018	D>N		No	ClinGen 1000Genomes
rs112925346 CA215143990	2021	S>G		No	ClinGen Ensembl
CA378596223 rs1421413407	2023	F>S		No	ClinGen gnomAD
CA5728278 rs541947593	2026	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5728279 rs541947593	2026	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5728280 rs759098102	2028	Y>S		No	ClinGen ExAC gnomAD
CA5728281 rs764696806	2029	P>A		No	ClinGen ExAC gnomAD
rs764696806 CA378596362	2029	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753271049 CA5728282	2031	N>D		No	ClinGen ExAC gnomAD
rs201469950 CA5728283	2032	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1395617468 CA378596436	2032	A>V		No	ClinGen TOPMed
rs776913333 CA215144088	2033	K>R		No	ClinGen Ensembl
CA5728284 rs764532623	2035	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5728285 rs575220564	2036	W>G		No	ClinGen 1000Genomes ExAC gnomAD
CA5728286 rs757528594	2037	D>Y		No	ClinGen ExAC gnomAD
rs370145135 CA5728287	2038	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs112645522 CA5728289	2039	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367835325 CA5728290	2040	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5728291 rs780273180	2041	Q>H		No	ClinGen ExAC gnomAD
CA378596650 rs1481324786	2042	N>K		No	ClinGen gnomAD
CA378596673 rs1196926325	2043	N>S		No	ClinGen gnomAD
CA5728292 rs532637691	2045	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144201819 CA5728293	2045	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378596707 rs144201819	2045	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378596693 rs532637691	2045	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773094118 CA5728294	2047	T>I		No	ClinGen ExAC TOPMed gnomAD
CA378596799 rs1374905044	2050	F>L		No	ClinGen gnomAD
rs1591569707 CA378596830	2051	R>S		No	ClinGen Ensembl
COSM3435241 COSM3435239 CA378596835 rs1263207614	2052	D>N	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
rs559480293 CA5728298	2053	V>G		No	ClinGen 1000Genomes ExAC
rs759186120 CA5728299	2054	Q>E		No	ClinGen ExAC
rs777622215 CA5728318	2055	L>I		No	ClinGen ExAC gnomAD
rs202204913 CA5728319	2056	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1448143213 CA378597854	2060	N>D		No	ClinGen TOPMed
CA378597864 rs1247977519	2060	N>K		No	ClinGen TOPMed
rs776397755 CA5728321	2062	D>G		No	ClinGen ExAC gnomAD
CA215147306 rs1031864801	2062	D>N		No	ClinGen TOPMed gnomAD
CA5728322 rs745534209	2064	I>T		No	ClinGen ExAC gnomAD
rs1485932313 CA378597912	2064	I>V		No	ClinGen TOPMed
CA378597984 rs549719991	2068	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549719991 CA5728325	2068	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1363676447 CA378598015	2070	P>S		No	ClinGen TOPMed gnomAD
rs374738106 CA5728327	2072	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5728328 rs199856639 COSM915687 COSM915689	2072	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs374738106 CA378598038	2072	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA215147368 rs952970432	2074	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1316796359 CA378598135	2078	A>T		No	ClinGen gnomAD
rs1214135890 CA378598148	2078	A>V		No	ClinGen gnomAD
CA5728330 rs750755212	2079	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA378598160 rs147966171	2079	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5728331 rs147966171	2079	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs754071848 CA5728333	2080	V>L		No	ClinGen ExAC TOPMed gnomAD
rs755056574 CA5728334	2081	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA378598234 rs1418390448	2084	A>T		No	ClinGen gnomAD
CA5728336 rs201786091	2086	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1591596949 CA378598281	2088	F>L		No	ClinGen Ensembl
CA378598321 rs1263305734	2092	S>T		No	ClinGen TOPMed
CA378598333 rs1591597019	2093	N>H		No	ClinGen Ensembl
COSM915692 rs780971341 CA5728338 COSM915690	2096	S>F	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5728340 rs745621942	2098	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5728341 rs769457915 COSM915693 COSM915695	2098	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5728342 rs779728403	2100	I>F		No	ClinGen ExAC gnomAD
rs748938371 CA5728343	2100	I>N		No	ClinGen ExAC gnomAD
CA378598466 rs1212700503	2102	D>G		No	ClinGen TOPMed
rs768113995 CA5728344	2104	S>G		No	ClinGen ExAC gnomAD
rs773895518 CA5728345	2106	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1214426823 CA378598542	2107	R>S		No	ClinGen gnomAD
rs762236735 CA5728346	2108	R>T		No	ClinGen ExAC TOPMed gnomAD
rs922749508 CA215147522	2109	G>A		No	ClinGen Ensembl
CA5728347 rs772671261	2109	G>W		No	ClinGen ExAC gnomAD
CA5728349 rs761172549	2110	F>L		No	ClinGen ExAC TOPMed gnomAD
CA5728351 rs201259183	2111	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5728350 rs201079729	2111	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1415255632 CA378598622	2113	E>G		No	ClinGen gnomAD
CA215147544 rs988127835	2113	E>Q		No	ClinGen Ensembl
rs759793489 CA5728352	2114	Y>C		No	ClinGen ExAC gnomAD
rs1323660881 CA378598657	2115	Y>*		No	ClinGen gnomAD
rs765246518 CA5728353	2116	S>C		No	ClinGen ExAC TOPMed gnomAD
CA215147567 rs1041018294	2118	P>A		No	ClinGen TOPMed gnomAD
rs1300388440 CA378598701	2118	P>L		No	ClinGen TOPMed gnomAD
CA378598700 rs1300388440	2118	P>R		No	ClinGen TOPMed gnomAD
CA378598735 rs1233078328	2121	D>N		No	ClinGen gnomAD
CA378598760 rs1408365371	2122	S>N		No	ClinGen TOPMed
CA5728367 rs771481402	2124	N>K		No	ClinGen ExAC gnomAD
CA378598948 rs1591602900	2124	N>T		No	ClinGen Ensembl
rs776998114 CA5728368	2129	P>S		No	ClinGen ExAC gnomAD
CA5728369 rs373935397	2130	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA5728370 rs765461014	2132	M>K		No	ClinGen ExAC gnomAD
rs1187881314 CA378599006	2133	Q>*		No	ClinGen TOPMed gnomAD
rs1187881314 CA378599004	2133	Q>K		No	ClinGen TOPMed gnomAD
CA5728371 rs188286425	2135	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5728373 rs764126755	2136	V>M		No	ClinGen ExAC gnomAD
rs1187765967 CA378599033	2137	S>N		No	ClinGen gnomAD
rs750425602 CA5728374	2140	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1475229059 CA378599061	2141	L>V		No	ClinGen gnomAD
CA5728376 rs543589037	2142	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1434533732 CA378599078	2143	S>F		No	ClinGen TOPMed
rs754612360 CA5728378	2144	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1318013365 CA378599088	2145	G>D		No	ClinGen gnomAD
rs563349883 CA215148358	2146	F>S		No	ClinGen 1000Genomes
rs1433087312 CA378599110	2149	S>G		No	ClinGen gnomAD
rs758052524 CA5728381	2149	S>R		No	ClinGen ExAC TOPMed gnomAD
rs200885594 CA378599124	2150	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378599127 rs1162663772	2151	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA378599134 rs1233532401	2152	V>F		No	ClinGen gnomAD
CA5728383 rs747533805	2153	I>V		No	ClinGen ExAC TOPMed gnomAD
rs771403045 CA215148413	2157	N>I		No	ClinGen ExAC TOPMed gnomAD
CA5728384 rs771403045	2157	N>T		No	ClinGen ExAC TOPMed gnomAD
rs368725778 CA378599191	2160	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378599196 rs1304462206	2161	E>A		No	ClinGen gnomAD
CA378599198 rs1444933487	2161	E>D		No	ClinGen gnomAD
CA5728386 rs746193538	2161	E>K		No	ClinGen ExAC gnomAD
CA378599193 rs746193538	2161	E>Q		No	ClinGen ExAC gnomAD
CA5728387 rs770032518	2162	C>R		No	ClinGen ExAC TOPMed gnomAD
rs374290451 CA5728389	2163	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs200198868 CA5728388	2163	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774353798 CA5728391	2164	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs909602555 CA215148472	2166	I>L		No	ClinGen Ensembl
rs760606614 CA5728392	2167	T>A		No	ClinGen ExAC gnomAD
rs368472383 CA5728393	2167	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378599235 rs1566031587	2168	P>A		No	ClinGen Ensembl
CA5728394 rs371601589	2168	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA378599241 rs1364604628	2169	N>T		No	ClinGen TOPMed gnomAD
rs1591604213 CA378599253	2171	V>G		No	ClinGen Ensembl
CA215148506 rs763076234	2171	V>L		No	ClinGen TOPMed
CA215148505 rs763076234	2171	V>M		No	ClinGen TOPMed
CA378599288 rs1376519191	2176	P>L		No	ClinGen TOPMed
rs1393901830 CA378599307	2179	G>A		No	ClinGen TOPMed gnomAD
rs1393901830 CA378599306	2179	G>D		No	ClinGen TOPMed gnomAD
CA378599308 rs1393901830	2179	G>V		No	ClinGen TOPMed gnomAD
CA5728397 rs752458397	2181	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5728398 rs758067219	2183	F>I		No	ClinGen ExAC gnomAD
rs1233807377 CA378599364	2185	Q>*		No	ClinGen gnomAD
rs567110840 CA5728416	2188	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5728417 rs752474526	2189	D>N		No	ClinGen ExAC TOPMed gnomAD
rs762727515 CA5728418	2190	T>I		No	ClinGen ExAC gnomAD
CA378600423 rs763791912	2191	I>M		No	ClinGen ExAC TOPMed gnomAD
CA215151503 rs759806458	2192	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1243873675 CA378600496	2194	S>Y		No	ClinGen TOPMed
CA378600513 rs1484301243	2195	N>S		No	ClinGen gnomAD
CA5728421 rs756830330	2199	A>V		No	ClinGen ExAC gnomAD
CA378600675 rs780563570	2203	G>D		No	ClinGen ExAC TOPMed gnomAD
CA5728422 rs780563570	2203	G>V		No	ClinGen ExAC TOPMed gnomAD
rs765686955 CA215151556	2207	K>Q		No	ClinGen Ensembl
CA378600756 rs1369163163	2208	R>G		No	ClinGen gnomAD
CA5728423 rs190602319	2213	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144244700 CA5728424	2213	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5728425 rs144244700	2213	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs190602319 CA378600849	2213	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5728427 CA378600916 rs147956447	2215	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3686551 CA5728428 COSM3686553 rs544748787	2216	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs748316261 CA5728429	2217	S>G		No	ClinGen ExAC TOPMed gnomAD
rs772255615 CA5728430	2217	S>N		No	ClinGen ExAC gnomAD
rs1314409159 CA378601011	2219	R>G		No	ClinGen gnomAD
rs934864434 CA215151636	2220	M>I		No	ClinGen TOPMed gnomAD
rs1226104808 CA378601064	2221	L>F		No	ClinGen gnomAD
CA5728431 rs773111850	2225	W>C		No	ClinGen ExAC TOPMed gnomAD
rs759522525 CA5728432	2226	V>F		No	ClinGen ExAC gnomAD
rs558231169 CA5728435	2227	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs369691816 CA5728434	2227	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs751290221 CA5728437	2229	M>R		No	ClinGen ExAC gnomAD
rs751290221 CA378601262	2229	M>T		No	ClinGen ExAC gnomAD
rs1169519912 CA378601253	2229	M>V		No	ClinGen TOPMed
CA5728439 rs373611718	2231	I>L		No	ClinGen ESP ExAC gnomAD
CA5728440 rs749832714	2231	I>N		No	ClinGen ExAC gnomAD
CA5728438 rs373611718	2231	I>V		No	ClinGen ESP ExAC gnomAD
CA5728441 rs377582283	2233	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1377948329 CA378601336	2233	N>S		No	ClinGen TOPMed gnomAD
CA378601389 rs1464379986	2235	T>A		No	ClinGen gnomAD
CA215151772 rs754318659	2237	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA5728445 rs755405576	2238	V>A		No	ClinGen ExAC gnomAD
rs1402479155 CA378601455	2238	V>I		No	ClinGen TOPMed gnomAD
CA215151800 rs907208985	2241	N>D		No	ClinGen Ensembl
rs372643846 CA5728450	2246	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA378601644 rs1346280874	2247	E>*		No	ClinGen TOPMed gnomAD
rs183135544 VAR_057986 CA5728454	2255	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5728455 rs187802884	2256	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1381323949 CA378601868 COSM1492185 COSM1492183	2257	I>T	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed
rs761528801 CA5728456	2257	I>V		No	ClinGen ExAC gnomAD
rs562376502 CA5728458	2261	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA215151953 rs267602398	2262	S>F		No	ClinGen Ensembl
CA5728462 rs754402736	2267	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA5728461 rs754402736	2267	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA5728464 rs752965644	2268	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5728463 rs765593993	2268	P>S		No	ClinGen ExAC gnomAD
rs1324587780 COSM1346474 COSM1346472 CA378602107	2269	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs141809676 CA5728465	2270	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1366115774 CA378602133	2270	T>S		No	ClinGen gnomAD
CA5728466 rs200589297	2272	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5728467 rs368301130	2272	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1237218385 CA378602236	2274	Y>*		No	ClinGen gnomAD
CA378602259 rs1213153817	2276	V>E		No	ClinGen TOPMed gnomAD
CA5728469 rs781407212	2276	V>M		No	ClinGen ExAC TOPMed gnomAD
CA378602294 rs1251159156	2278	L>P		No	ClinGen gnomAD
rs1487499752 CA378602323	2279	N>K		No	ClinGen gnomAD
CA5728470 rs749251188	2280	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA378602369 rs1178135963	2281	D>Y		No	ClinGen TOPMed
CA5728472 rs199571070	2284	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1156620814 CA378602510	2287	E>D		No	ClinGen gnomAD
CA378602541 rs1222333287	2289	L>P		No	ClinGen TOPMed
rs747845252 CA5728473	2291	S>P		No	ClinGen ExAC gnomAD
rs1347595765 CA378602602	2294	V>I		No	ClinGen TOPMed gnomAD
CA215152085 rs750428679	2295	L>R		No	ClinGen Ensembl
CA378602623 rs1314748265	2296	T>S		No	ClinGen TOPMed
CA5728475 rs772777167	2298	F>L		No	ClinGen ExAC gnomAD
CA378602660 rs1591627181	2300	D>N		No	ClinGen Ensembl
rs760310355 CA5728476	2301	T>I		No	ClinGen ExAC TOPMed gnomAD
rs760310355 CA378602676	2301	T>N		No	ClinGen ExAC TOPMed gnomAD
rs368058687 CA5728478	2303	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5728479 rs760067260	2304	A>T		No	ClinGen ExAC gnomAD
rs1330101358 CA378602707	2304	A>V		No	ClinGen gnomAD
CA5728480 rs371661466	2306	P>L		No	ClinGen ESP ExAC gnomAD
CA378602760 rs373679456	2309	N>K		No	ClinGen ESP TOPMed gnomAD
CA215152123 rs969577717	2309	N>S		No	ClinGen TOPMed
rs764514168 CA5728483	2310	D>G		No	ClinGen ExAC gnomAD
rs1165524350 CA378602786	2311	F>L		No	ClinGen TOPMed
CA5728484 rs751886071	2312	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378602843 rs1160030675	2317	D>E		No	ClinGen TOPMed
rs556075976 CA5728488	2320	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5728487 rs367820947	2320	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA5728489 rs778761716	2321	S>N		No	ClinGen ExAC TOPMed gnomAD
CA5728508 rs372434439	2324	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM915699 COSM915701 rs372434439 CA5728507	2324	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs376742160 CA5728509	2325	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1591642343 CA378603855	2326	D>G		No	ClinGen Ensembl
rs1448278192 CA378603846	2326	D>N		No	ClinGen gnomAD
CA378603893 rs1171002723	2328	T>N		No	ClinGen gnomAD
CA378603896 rs1171002723	2328	T>S		No	ClinGen gnomAD
rs777578701 CA378603931	2330	G>*		No	ClinGen ExAC gnomAD
rs746758106 CA5728512	2330	G>A		No	ClinGen ExAC gnomAD
CA5728511 rs777578701	2330	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5728513 rs770692570	2331	P>R		No	ClinGen ExAC gnomAD
rs892569294 CA378603954	2332	Y>C		No	ClinGen TOPMed
rs892569294 CA215154568	2332	Y>F		No	ClinGen TOPMed
CA378603952 rs892569294	2332	Y>S		No	ClinGen TOPMed
CA378603968 rs1269734859	2333	S>Y		No	ClinGen gnomAD
rs200864849 CA5728514	2334	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs769244065 CA5728516	2335	P>L		No	ClinGen ExAC TOPMed gnomAD
CA378604025 COSM3414773 rs763374104 COSM3414775	2338	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5728518 rs763374104	2338	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5728519 COSM1560903 COSM1560905 rs373485754	2338	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5728520 rs373485754	2338	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1442969101 CA378604083	2343	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA215154622 rs867500352 COSM302063	2343	R>W	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs767959534 CA5728522	2345	R>G		No	ClinGen ExAC gnomAD
CA378604153 rs1566079797	2348	H>Q		No	ClinGen Ensembl
rs534952521 CA5728523	2348	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA378604154 rs1591642897	2349	F>I		No	ClinGen Ensembl
rs1000076290 CA215154647	2350	L>P		No	ClinGen Ensembl
CA5728524 rs760896399	2351	N>I		No	ClinGen ExAC TOPMed gnomAD
COSM1346477 COSM1346475 rs1034308642 CA215154663	2352	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1034308642 CA378604185	2352	R>G		No	ClinGen Ensembl
CA378604190 rs1455738382	2352	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1455738382 CA378604195	2352	R>L		No	ClinGen TOPMed
CA378604223 rs1223135085	2354	P>H		No	ClinGen gnomAD
rs766376568 CA5728525	2354	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs766376568 CA378604217	2354	P>T		No	ClinGen ExAC gnomAD
CA215154680 rs866363921	2355	S>F		No	ClinGen Ensembl
rs1415325438 CA378604249	2356	V>M		No	ClinGen gnomAD
rs1386667641 CA378604282	2358	L>V		No	ClinGen gnomAD
rs1437407547 CA378604292	2359	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs147761345 CA5728529	2359	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1024157502 CA215154737	2362	M>T		No	ClinGen Ensembl
rs373370046 CA5728530	2362	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1442399540 CA378604363	2363	V>E		No	ClinGen TOPMed
rs1272927240 CA378604386	2365	C>G		No	ClinGen gnomAD
CA5728531 rs780953372	2367	A>S		No	ClinGen ExAC gnomAD
rs376479942 CA5728532	2367	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs779461438 CA5728534	2370	P>S		No	ClinGen ExAC gnomAD
rs748783097 CA5728535	2371	S>F		No	ClinGen ExAC gnomAD
rs1016513703 CA215154796	2372	S>C		No	ClinGen Ensembl
rs962392411 CA215154798	2373	R>C		No	ClinGen gnomAD
rs193149514 CA5728537	2373	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs193149514 CA5728538	2373	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1346480 CA5728539 COSM1346478 rs537234062	2376	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs773647369 CA378604526	2377	G>C		No	ClinGen ExAC TOPMed gnomAD
rs773647369 CA5728540	2377	G>S		No	ClinGen ExAC TOPMed gnomAD
rs760842026 CA5728541	2379	V>A		No	ClinGen ExAC gnomAD
rs1158836498 CA378604544	2379	V>M		No	ClinGen gnomAD
rs1160076916 CA378604583	2382	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1271759295 CA378604575	2382	S>T		No	ClinGen TOPMed
rs1198325908 CA378604587	2383	K>E		No	ClinGen gnomAD
rs1393828128 CA378604609	2384	R>S		No	ClinGen gnomAD
rs557026873 CA5728543	2387	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378604638 rs557026873	2387	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA215154870 rs1054873397	2388	S>A		No	ClinGen TOPMed gnomAD
CA5728545 rs765298946	2388	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1168150049 CA378604651	2389	Y>D		No	ClinGen TOPMed
rs1287410971 CA378604672	2391	E>Q		No	ClinGen gnomAD
rs914086927 CA378604694	2392	K>N		No	ClinGen TOPMed
rs751557529 CA5728546	2393	V>M		No	ClinGen ExAC gnomAD
CA215154934 rs201579246	2394	D>E		No	ClinGen ExAC TOPMed gnomAD
CA215154913 rs199985306	2394	D>G		No	ClinGen 1000Genomes
COSM915707 CA5728548 rs767302521 COSM915705	2395	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
COSM1504738 rs755743749 COSM1504736 CA5728550	2396	V>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5728551 rs576815460	2397	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA5728552 rs374294775	2398	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA378604760 rs1181925811	2400	I>L		No	ClinGen gnomAD
CA5728554 rs778550174	2401	Q>*		No	ClinGen ExAC gnomAD
rs1183130263 CA378604776	2401	Q>H		No	ClinGen gnomAD
CA215154995 rs925273303	2401	Q>R		No	ClinGen Ensembl
CA378604795 rs1456479693	2403	Q>H		No	ClinGen gnomAD
CA215155035 rs938029461	2404	T>I		No	ClinGen TOPMed gnomAD
CA378604806 rs938029461	2404	T>N		No	ClinGen TOPMed gnomAD
CA378604799 rs1486339690	2404	T>P		No	ClinGen TOPMed
CA378604801 rs1486339690	2404	T>S		No	ClinGen TOPMed
rs539918670 CA215155059	2405	P>T		No	ClinGen gnomAD
CA5728557 rs772671163	2406	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA378604819 rs1405821637	2406	P>T		No	ClinGen gnomAD
CA5728559 rs747458876	2407	R>C		No	ClinGen ExAC TOPMed gnomAD
CA378604828 rs747458876	2407	R>S		No	ClinGen ExAC TOPMed gnomAD
CA215155075 rs894370695	2408	R>*		No	ClinGen Ensembl
COSM1203793 COSM1203791 rs771169614 CA5728560	2408	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs867219606 CA215155080	2410	E>K		No	ClinGen Ensembl
rs376321748 CA5728561	2412	P>S		No	ClinGen ESP ExAC gnomAD
rs959215360 CA215155104	2413	R>Q		No	ClinGen TOPMed gnomAD
CA215155091 rs370475460	2413	R>W		No	ClinGen ESP TOPMed gnomAD

1 associated diseases with Q9UGM3

[MIM: 137800]: Glioma (GLM)

Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. Note=The gene represented in this entry is involved in disease pathogenesis. Homozygous deletions may be the predominant mechanism of DMBT1 inactivation playing a role in carcinogenesis. DMBT1 is deleted in medulloblastoma and glioblastoma cell lines; point mutations have also been reported in patients with glioma. A loss or reduction of DMBT1 expression has been seen in esophageal, gastric, lung and colorectal carcinomas as well.

Without disease ID

Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. Note=The gene represented in this entry is involved in disease pathogenesis. Homozygous deletions may be the predominant mechanism of DMBT1 inactivation playing a role in carcinogenesis. DMBT1 is deleted in medulloblastoma and glioblastoma cell lines; point mutations have also been reported in patients with glioma. A loss or reduction of DMBT1 expression has been seen in esophageal, gastric, lung and colorectal carcinomas as well.

No regional properties for Q9UGM3

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9UGM3

Functions

		Description
EC Number
Subcellular Localization	Secreted	Some isoforms may be membrane-bound Localized to the lumenal aspect of crypt cells in the small intestine In the colon, seen in the lumenal aspect of surface epithelial cells Formed in the ducts of von Ebner gland, and released into the fluid bathing the taste buds contained in the taste papillae (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
extracellular matrix	A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
extrinsic component of membrane	The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
phagocytic vesicle membrane	The lipid bilayer surrounding a phagocytic vesicle.
zymogen granule membrane	The lipid bilayer surrounding a zymogen granule.

9 GO annotations of molecular function

Name	Definition
calcium-dependent protein binding	Binding to a protein or protein complex in the presence of calcium.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
extracellular matrix binding	Binding to a component of the extracellular matrix.
heparan sulfate binding	Binding to heparan sulfate.
lipopolysaccharide binding	Binding to a lipopolysaccharide.
lipoteichoic acid binding	Binding to lipoteichoic acid.
pattern recognition receptor activity	Combining with a pathogen-associated molecular pattern (PAMP), a structure conserved among microbial species to initiate an innate immune response.
scavenger receptor activity	Combining with any modified low-density lipoprotein (LDL) or other polyanionic ligand and delivering the ligand into the cell via endocytosis. Ligands include acetylated and oxidized LDL, Gram-positive and Gram-negative bacteria, apoptotic cells, amyloid-beta fibrils, and advanced glycation end products (AGEs).
zymogen binding	Binding to a zymogen, an enzymatically inactive precursor of an enzyme that is often convertible to an active enzyme by proteolysis.

11 GO annotations of biological process

Name	Definition
antimicrobial humoral immune response mediated by antimicrobial peptide	An immune response against microbes mediated by anti-microbial peptides in body fluid.
defense response	Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack.
defense response to Gram-negative bacterium	Reactions triggered in response to the presence of a Gram-negative bacterium that act to protect the cell or organism.
defense response to Gram-positive bacterium	Reactions triggered in response to the presence of a Gram-positive bacterium that act to protect the cell or organism.
defense response to virus	Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
detection of bacterial lipoprotein	The series of events in which a bacterial lipoprotein stimulus is received by a cell and converted into a molecular signal. Bacterial lipoproteins are lipoproteins characterized by the presence of conserved sequence motifs called pathogen-associated molecular patterns (PAMPs).
epithelial cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium.
induction of bacterial agglutination	Any process in which infecting bacteria are clumped together by a host organism.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
receptor-mediated endocytosis	An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8CIZ5	Dmbt1	Deleted in malignant brain tumors 1 protein	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MGISTVILEM	CLLWGQVLST	GGWIPRTTDY	ASLIPSEVPL	DPTVAEGSPF	PSESTLESTV
70	80	90	100	110	120
AEGSPISLES	TLESTVAEGS	LIPSESTLES	TVAEGSDSGL	ALRLVNGDGR	CQGRVEILYR
130	140	150	160	170	180
GSWGTVCDDS	WDTNDANVVC	RQLGCGWAMS	APGNAWFGQG	SGPIALDDVR	CSGHESYLWS
190	200	210	220	230	240
CPHNGWLSHN	CGHGEDAGVI	CSAAQPQSTL	RPESWPVRIS	PPVPTEGSES	SLALRLVNGG
250	260	270	280	290	300
DRCRGRVEVL	YRGSWGTVCD	DYWDTNDANV	VCRQLGCGWA	MSAPGNAQFG	QGSGPIVLDD
310	320	330	340	350	360
VRCSGHESYL	WSCPHNGWLT	HNCGHSEDAG	VICSAPQSRP	TPSPDTWPTS	HASTAGPESS
370	380	390	400	410	420
LALRLVNGGD	RCQGRVEVLY	RGSWGTVCDD	SWDTSDANVV	CRQLGCGWAT	SAPGNARFGQ
430	440	450	460	470	480
GSGPIVLDDV	RCSGYESYLW	SCPHNGWLSH	NCQHSEDAGV	ICSAAHSWST	PSPDTLPTIT
490	500	510	520	530	540
LPASTVGSES	SLALRLVNGG	DRCQGRVEVL	YRGSWGTVCD	DSWDTNDANV	VCRQLGCGWA
550	560	570	580	590	600
MLAPGNARFG	QGSGPIVLDD	VRCSGNESYL	WSCPHNGWLS	HNCGHSEDAG	VICSGPESSL
610	620	630	640	650	660
ALRLVNGGDR	CQGRVEVLYR	GSWGTVCDDS	WDTNDANVVC	RQLGCGWATS	APGNARFGQG
670	680	690	700	710	720
SGPIVLDDVR	CSGHESYLWS	CPNNGWLSHN	CGHHEDAGVI	CSAAQSRSTP	RPDTLSTITL
730	740	750	760	770	780
PPSTVGSESS	LTLRLVNGSD	RCQGRVEVLY	RGSWGTVCDD	SWDTNDANVV	CRQLGCGWAT
790	800	810	820	830	840
SAPGNARFGQ	GSGPIVLDDV	RCSGHESYLW	SCPHNGWLSH	NCGHHEDAGV	ICSVSQSRPT
850	860	870	880	890	900
PSPDTWPTSH	ASTAGPESSL	ALRLVNGGDR	CQGRVEVLYR	GSWGTVCDDS	WDTSDANVVC
910	920	930	940	950	960
RQLGCGWATS	APGNARFGQG	SGPIVLDDVR	CSGYESYLWS	CPHNGWLSHN	CQHSEDAGVI
970	980	990	1000	1010	1020
CSAAHSWSTP	SPDTLPTITL	PASTVGSESS	LALRLVNGGD	RCQGRVEVLY	QGSWGTVCDD
1030	1040	1050	1060	1070	1080
SWDTNDANVV	CRQLGCGWAM	SAPGNARFGQ	GSGPIVLDDV	RCSGHESYLW	SCPHNGWLSH
1090	1100	1110	1120	1130	1140
NCGHSEDAGV	ICSASQSRPT	PSPDTWPTSH	ASTAGSESSL	ALRLVNGGDR	CQGRVEVLYR
1150	1160	1170	1180	1190	1200
GSWGTVCDDY	WDTNDANVVC	RQLGCGWAMS	APGNARFGQG	SGPIVLDDVR	CSGHESYLWS
1210	1220	1230	1240	1250	1260
CPHNGWLSHN	CGHHEDAGVI	CSASQSQPTP	SPDTWPTSHA	STAGSESSLA	LRLVNGGDRC
1270	1280	1290	1300	1310	1320
QGRVEVLYRG	SWGTVCDDYW	DTNDANVVCR	QLGCGWATSA	PGNARFGQGS	GPIVLDDVRC
1330	1340	1350	1360	1370	1380
SGHESYLWSC	PHNGWLSHNC	GHHEDAGVIC	SASQSQPTPS	PDTWPTSHAS	TAGSESSLAL
1390	1400	1410	1420	1430	1440
RLVNGGDRCQ	GRVEVLYRGS	WGTVCDDYWD	TNDANVVCRQ	LGCGWATSAP	GNARFGQGSG
1450	1460	1470	1480	1490	1500
PIVLDDVRCS	GHESYLWSCP	HNGWLSHNCG	HHEDAGVICS	ASQSQPTPSP	DTWPTSRAST
1510	1520	1530	1540	1550	1560
AGSESTLALR	LVNGGDRCRG	RVEVLYQGSW	GTVCDDYWDT	NDANVVCRQL	GCGWAMSAPG
1570	1580	1590	1600	1610	1620
NAQFGQGSGP	IVLDDVRCSG	HESYLWSCPH	NGWLSHNCGH	HEDAGVICSA	AQSQSTPRPD
1630	1640	1650	1660	1670	1680
TWLTTNLPAL	TVGSESSLAL	RLVNGGDRCR	GRVEVLYRGS	WGTVCDDSWD	TNDANVVCRQ
1690	1700	1710	1720	1730	1740
LGCGWAMSAP	GNARFGQGSG	PIVLDDVRCS	GNESYLWSCP	HKGWLTHNCG	HHEDAGVICS
1750	1760	1770	1780	1790	1800
ATQINSTTTD	WWHPTTTTTA	RPSSNCGGFL	FYASGTFSSP	SYPAYYPNNA	KCVWEIEVNS
1810	1820	1830	1840	1850	1860
GYRINLGFSN	LKLEAHHNCS	FDYVEIFDGS	LNSSLLLGKI	CNDTRQIFTS	SYNRMTIHFR
1870	1880	1890	1900	1910	1920
SDISFQNTGF	LAWYNSFPSD	ATLRLVNLNS	SYGLCAGRVE	IYHGGTWGTV	CDDSWTIQEA
1930	1940	1950	1960	1970	1980
EVVCRQLGCG	RAVSALGNAY	FGSGSGPITL	DDVECSGTES	TLWQCRNRGW	FSHNCNHRED
1990	2000	2010	2020	2030	2040
AGVICSGNHL	STPAPFLNIT	RPNTDYSCGG	FLSQPSGDFS	SPFYPGNYPN	NAKCVWDIEV
2050	2060	2070	2080	2090	2100
QNNYRVTVIF	RDVQLEGGCN	YDYIEVFDGP	YRSSPLIARV	CDGARGSFTS	SSNFMSIRFI
2110	2120	2130	2140	2150	2160
SDHSITRRGF	RAEYYSSPSN	DSTNLLCLPN	HMQASVSRSY	LQSLGFSASD	LVISTWNGYY
2170	2180	2190	2200	2210	2220
ECRPQITPNL	VIFTIPYSGC	GTFKQADNDT	IDYSNFLTAA	VSGGIIKRRT	DLRIHVSCRM
2230	2240	2250	2260	2270	2280
LQNTWVDTMY	IANDTIHVAN	NTIQVEEVQY	GNFDVNISFY	TSSSFLYPVT	SRPYYVDLNQ
2290	2300	2310	2320	2330	2340
DLYVQAEILH	SDAVLTLFVD	TCVASPYSND	FTSLTYDLIR	SGCVRDDTYG	PYSSPSLRIA
2350	2360	2370	2380	2390	2400
RFRFRAFHFL	NRFPSVYLRC	KMVVCRAYDP	SSRCYRGCVL	RSKRDVGSYQ	EKVDVVLGPI
2410
QLQTPPRREE	EPR