AiPD: Autoinhibited Protein Database

Q6N022

Gene name	TENM4 (KIAA1302, ODZ4, TNM4)
Protein name	Teneurin-4
Names	Ten-4, Protein Odd Oz/ten-m homolog 4, Tenascin-M4, Ten-m4, Teneurin transmembrane protein 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26011
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-63 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-63 (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

4 structures for Q6N022

Entry ID	Method	Resolution	Chain	Position	Source
7BAM	EM	350 A	A/B	834-2765	PDB
7BAN	EM	270 A	A/B	834-2765	PDB
7BAO	EM	270 A	A	834-2765	PDB
7PLP	X-ray	140 A	A/B	833-871	PDB

2246 variants for Q6N022

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6207720 VAR_076654 rs760852624	53	R>P	ETM5; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC dbSNP
RCV001333755 rs928920799 CA225155012	116	D>N	Tremor, hereditary essential, 5 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_076655	474	A>D	ETM5; unknown pathological significance [UniProt]	Yes	UniProt
CA6207545 RCV002536818 rs191549326 RCV000879997	485	P>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs201191369 CA6207535 VAR_076656	518	R>Q	ETM5; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1591072819 CA382181188 RCV000824806 VAR_085138	519	G>E	Cleft palate found in a patiend with developmental delay, cleft palate and proliferative retinopathy; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA6207194 RCV000879996 RCV002539289 rs141706152	935	P>R	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA382122927 VAR_076657 rs556858741	1128	V>M	ETM5; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes TOPMed dbSNP gnomAD
rs538881762 RCV000203554 RCV002247628 VAR_076521 CA251321	1138	V>M	Tremor, hereditary essential, 5 ETM5; dominant negative effect on central nervous myelination and axon guidance; changed localization to the plasma membrane; clustered plasma membrane localization [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA224956031 rs1026919229 RCV001267483	1300	R>W	Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs763485258 VAR_076522 CA251317 RCV000203504	1367	T>N	Tremor, hereditary essential, 5 ETM5; dominant negative effect on central nervous myelination and axon guidance; changed localization to the plasma membrane; clustered plasma membrane localization [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA251319 RCV000203527 VAR_076523 rs375681722	1442	A>T	Tremor, hereditary essential, 5 ETM5; dominant negative effect on central nervous myelination and axon guidance; changed localization to the plasma membrane; clustered plasma membrane localization [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA6206779 RCV001091737 RCV002554838 rs199624205	1520	N>D	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA6206774 rs770111861 VAR_076658	1535	K>Q	ETM5; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
COSM932350 COSM932349 CA382144597 RCV001198717 rs375897439	1561	R>W	Tremor, hereditary essential, 5 large_intestine endometrium [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000994692 RCV001333756 VAR_076659 CA6206737 rs199687168	1632	R>H	Tremor, hereditary essential, 5 ETM5; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA6206647 rs201995608 VAR_076660	1763	G>R	ETM5; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6206430 RCV001267482 rs199597334	2108	Y>C	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs761633956 CA6206391 RCV001265920	2191	R>H	Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs950098538 CA224929144 RCV001197189	2223	L>P	Tremor, hereditary essential, 5 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA6206267 VAR_076661 rs201769315	2451	M>I	ETM5; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA382186220 rs758363238	2	D>E		No	ClinGen ExAC TOPMed gnomAD
rs748920581 CA225155658	3	V>G		No	ClinGen Ensembl
rs1354452697 CA382186216	3	V>L		No	ClinGen gnomAD
rs1312406939 CA382186195	6	R>K		No	ClinGen TOPMed gnomAD
CA382186193 rs1312406939	6	R>M		No	ClinGen TOPMed gnomAD
rs763375008 CA225155657	8	P>L		No	ClinGen Ensembl
rs1383097565 CA382186180	8	P>S		No	ClinGen gnomAD
rs1383097565 CA382186182	8	P>T		No	ClinGen gnomAD
rs1250208925 CA382186161	11	S>L		No	ClinGen gnomAD
rs1043000556 CA225155656	11	S>P		No	ClinGen TOPMed
CA225155655 rs878912515	12	L>P		No	ClinGen Ensembl
rs1287621114 CA382186157	12	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	13	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA225155654 rs947277837	14	R>G		No	ClinGen TOPMed gnomAD
VAR_062167 RCV000882478 CA6207725 rs58537389	14	R>Q		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA382186148 rs947277837	14	R>W		No	ClinGen TOPMed gnomAD
CA382186143 rs1410637100	15	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6207724 rs765061654	15	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	17	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1368080725 CA382186126	18	A>T		No	ClinGen TOPMed gnomAD
CA382186117 rs1430067811	19	E>G		No	ClinGen gnomAD
rs750883732 CA6207723	19	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	20	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382186113 rs1313334113	20	R>S		No	ClinGen TOPMed
CA382186104 rs1565191212	21	R>H		No	ClinGen Ensembl
CA382186092 rs1187780287	23	T>A		No	ClinGen gnomAD
rs1468869681 CA382186083	24	S>T		No	ClinGen gnomAD
rs1339433774 COSM932425 COSM932426 CA382186074	25	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
CA225155651 rs1056051604	27	A>S		No	ClinGen TOPMed gnomAD
CA382186067 rs1056051604	27	A>T		No	ClinGen TOPMed gnomAD
rs753636753 CA6207722	29	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1251506433 CA382186047	30	E>K		No	ClinGen gnomAD
rs938478797 CA225155650	31	E>K		No	ClinGen TOPMed gnomAD
CA382186028 rs1293890881	32	G>A		No	ClinGen gnomAD
CA382186030 rs1309630576	32	G>C		No	ClinGen gnomAD
TCGA novel	32	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763822977 CA225155649	33	K>N		No	ClinGen gnomAD
TCGA novel	36	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382186007 rs1328563039	36	Q>K		No	ClinGen gnomAD
rs1438773048 CA382186004	36	Q>R		No	ClinGen gnomAD
rs1390179278 CA382185986	38	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA382185970 rs1371069851	40	S>R		No	ClinGen gnomAD
rs1213448713 CA382185976	40	S>R		No	ClinGen TOPMed
rs1463723707 CA382185974	40	S>T		No	ClinGen TOPMed gnomAD
CA382185956 rs1287629024	42	S>R		No	ClinGen gnomAD
rs1167752119 CA382185948	43	E>D		No	ClinGen gnomAD
CA382185953 rs1591259252	43	E>K		No	ClinGen Ensembl
CA382185928 rs1488067927	47	A>T		No	ClinGen TOPMed
CA382185921 rs1191723989	48	Y>H		No	ClinGen TOPMed gnomAD
CA382185914 rs1450526627	49	D>N		No	ClinGen gnomAD
rs1197116400 CA382185887	52	A>D		No	ClinGen gnomAD
rs61745035 CA382185883	53	R>C		No	ClinGen TOPMed gnomAD
rs61745035 CA225155645	53	R>S		No	ClinGen TOPMed gnomAD
rs1591259192 CA382185862	56	Y>*		No	ClinGen Ensembl
CA382185865 rs1249931088	56	Y>C		No	ClinGen gnomAD
TCGA novel	56	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382185857 rs1591259184	57	G>A		No	ClinGen Ensembl
CA6207718 rs772170430	58	S>N		No	ClinGen ExAC gnomAD
CA382185847 rs1349107459	59	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1306249551 CA382185845	59	R>H		No	ClinGen gnomAD
CA225155643 rs969757737	61	K>E		No	ClinGen Ensembl
rs1359710717 CA382185832	61	K>M		No	ClinGen TOPMed
rs558299726 CA6207717	61	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775285270 CA382185823	62	D>E		No	ClinGen TOPMed
rs774851616 CA6207716	64	V>A		No	ClinGen ExAC gnomAD
CA6207715 rs538574005	65	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs960081280 CA225155641	67	E>D		No	ClinGen TOPMed gnomAD
rs1435117297 CA382185797	67	E>K		No	ClinGen TOPMed
rs1307703687 CA382185792	67	E>V		No	ClinGen gnomAD
rs1396722123 CA382185788	68	A>T		No	ClinGen gnomAD
CA6207714 COSM1357269 rs749650726 COSM1357270	69	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1183390510 CA382185770	70	E>D		No	ClinGen TOPMed gnomAD
CA382185763 rs1416902192	71	F>L		No	ClinGen gnomAD
rs1203771651 CA382185751	73	R>C		No	ClinGen TOPMed
CA382185752 rs1203771651	73	R>G		No	ClinGen TOPMed
rs566743822 CA225155638	73	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
CA382185742 rs1326874942	75	G>S		No	ClinGen TOPMed gnomAD
CA382185720 rs1410593095	76	A>T		No	ClinGen gnomAD
CA382185715 rs1188217816	76	A>V		No	ClinGen gnomAD
rs1487913701 CA382185705	77	N>K		No	ClinGen TOPMed gnomAD
CA382185709 rs1188932714	77	N>S		No	ClinGen TOPMed gnomAD
rs546728680 COSM1235934 COSM1235933 RCV001091738 CA6207712	81	R>Q	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1260024596 CA382185684	81	R>W		No	ClinGen gnomAD
rs1480046455 CA382185670	83	L>P		No	ClinGen TOPMed
rs1442238560 CA382185663	84	G>V		No	ClinGen gnomAD
rs1007198084 CA225155026	86	E>D		No	ClinGen TOPMed
CA225155027 rs1029358066	86	E>K		No	ClinGen TOPMed gnomAD
CA225155025 rs988547538	87	E>K		No	ClinGen Ensembl
CA382185634 rs1267659269	89	T>M		No	ClinGen TOPMed gnomAD
rs879929335 CA225155023	90	P>L		No	ClinGen TOPMed gnomAD
CA225155024 rs1051681862	90	P>S		No	ClinGen TOPMed
rs879255355 RCV000239103 CA10586009	91	P>H		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1001445184 CA382185618	92	H>Q		No	ClinGen TOPMed gnomAD
rs1031168133 CA225155021	92	H>Y		No	ClinGen Ensembl
COSM1357267 COSM1357268 rs561431723 CA6207710	93	G>R	kidney large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1387263324 CA382185606	94	T>I		No	ClinGen TOPMed gnomAD
rs1462665358 CA382185599	96	Y>H		No	ClinGen gnomAD
rs752626042 CA225155017	97	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1056419910 CA382185592	97	R>P		No	ClinGen TOPMed gnomAD
CA225155016 rs1056419910	97	R>Q		No	ClinGen TOPMed gnomAD
CA6207708 rs752626042	97	R>W		No	ClinGen ExAC TOPMed gnomAD
rs897270091 CA225155015	100	I>T		No	ClinGen TOPMed
CA382185556 rs1247464366	103	P>S		No	ClinGen gnomAD
rs1055732515 CA225155014	104	H>D		No	ClinGen TOPMed
CA382185545 rs1292262502	105	C>S		No	ClinGen TOPMed
CA382185536 rs544941834	106	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6207705 rs544941834	106	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1347455414 CA382185514	109	M>T		No	ClinGen gnomAD
rs1339828660 CA382185503	111	A>S		No	ClinGen TOPMed gnomAD
rs1339828660 CA382185502	111	A>T		No	ClinGen TOPMed gnomAD
rs1271776305 CA382185484	114	D>N		No	ClinGen TOPMed gnomAD
rs1271776305 CA382185482	114	D>Y		No	ClinGen TOPMed gnomAD
CA225155011 rs928920799	116	D>Y		No	ClinGen TOPMed gnomAD
rs983036652 CA225155010	117	M>I		No	ClinGen TOPMed
rs951661299 CA225155009	118	E>K		No	ClinGen TOPMed gnomAD
CA6207703 rs756316313	119	A>V		No	ClinGen ExAC TOPMed gnomAD
rs750614405 CA6207702	121	T>A		No	ClinGen ExAC
rs985357407 CA225155008	121	T>M		No	ClinGen TOPMed gnomAD
rs985357407 CA382185433	121	T>R		No	ClinGen TOPMed gnomAD
rs562502162 CA225155007	122	V>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs1432074545 CA382185432	122	V>L		No	ClinGen gnomAD
rs1368572540 CA382185417	124	S>C		No	ClinGen TOPMed
CA382185399 rs1591254485	127	H>P		No	ClinGen Ensembl
CA6207700 rs761865864	127	H>Q		No	ClinGen ExAC gnomAD
rs922258177 CA382185389	129	V>L		No	ClinGen gnomAD
CA225155006 rs922258177	129	V>M		No	ClinGen gnomAD
CA225155004 rs367619898	130	R>C		No	ClinGen ESP TOPMed gnomAD
COSM429941 CA225155003 COSM429940 rs955778763	130	R>H	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA225155005 rs367619898	130	R>S		No	ClinGen ESP TOPMed gnomAD
rs1332268796 CA382185381	131	L>M		No	ClinGen TOPMed
CA382185364 rs1221098082	133	G>D		No	ClinGen gnomAD
CA382185365 rs1245128451	133	G>S		No	ClinGen gnomAD
rs1221098082 CA382185362	133	G>V		No	ClinGen gnomAD
rs373725569 CA6207699	134	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA382185360 rs1438660351	134	R>W		No	ClinGen TOPMed gnomAD
rs1591254441 CA382185356	135	S>G		No	ClinGen Ensembl
rs764554334 CA6207698	135	S>N		No	ClinGen ExAC
CA6207697 rs548462044	137	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1561960 CA382185343 rs1225850519 COSM1561959	137	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1591254429 CA382185339	138	S>A		No	ClinGen Ensembl
CA382185326 rs1303990981	140	R>C		No	ClinGen gnomAD
CA6207696 rs545775431	140	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382185321 rs1186875571	141	S>C		No	ClinGen gnomAD
rs1364868192 CA382185320	141	S>N		No	ClinGen TOPMed gnomAD
CA6207695 rs770086414	142	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1442450582 CA382185292	145	S>F		No	ClinGen gnomAD
rs1442450582 CA382185294	145	S>Y		No	ClinGen gnomAD
CA6207694 rs370511760	147	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1357263 CA382185282 COSM1357264 rs1305828373	147	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA382185276 rs1370346480	148	A>D		No	ClinGen gnomAD
TCGA novel	148	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1591254368 CA382185270	149	N>T		No	ClinGen Ensembl
CA382185235 rs1456012989	154	L>R		No	ClinGen gnomAD
CA225155000 rs1023779877	154	L>V		No	ClinGen TOPMed gnomAD
rs954382330 CA225154999	155	T>I		No	ClinGen TOPMed
CA382185229 rs1190728041	156	D>N		No	ClinGen TOPMed gnomAD
rs1295203777 CA382185218	157	T>N		No	ClinGen gnomAD
rs1295203777 CA382185217	157	T>S		No	ClinGen gnomAD
CA382185208 rs1234770534	158	E>D		No	ClinGen TOPMed gnomAD
rs1482567168 CA382185203	159	H>R		No	ClinGen gnomAD
CA382185207 rs1203298775	159	H>Y		No	ClinGen TOPMed gnomAD
CA382185199 rs1198146530	160	E>K		No	ClinGen Ensembl
rs868806623 CA225154998	161	N>D		No	ClinGen Ensembl
rs1379983060 CA382185184	162	T>P		No	ClinGen TOPMed
rs1276205272 CA382185173	163	E>D		No	ClinGen TOPMed
rs747660392 CA6207691	163	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1591254300 CA382185178	163	E>K		No	ClinGen Ensembl
CA382185166 rs1310417973	164	T>I		No	ClinGen gnomAD
rs1407420605 CA382185060	166	H>L		No	ClinGen gnomAD
rs943858934 CA225135915	166	H>Q		No	ClinGen TOPMed
CA225135916 rs867890134	166	H>Y		No	ClinGen Ensembl
CA382185057 rs1431343920	167	P>A		No	ClinGen TOPMed gnomAD
rs912417077 CA225135914 COSM932419 COSM932420	167	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA382185056 rs1431343920	167	P>S		No	ClinGen TOPMed gnomAD
rs1454702226 CA382185051	168	G>D		No	ClinGen gnomAD
rs551202427 CA382185053	168	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs551202427 CA6207669	168	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745630345 CA6207668	169	G>S		No	ClinGen ExAC TOPMed gnomAD
CA225135913 rs925231288	171	Q>P		No	ClinGen TOPMed
rs1565118644 CA382185029	172	N>Y		No	ClinGen Ensembl
rs1046830439 CA225135912	173	H>Y		No	ClinGen Ensembl
rs757424213 CA382185012	174	A>G		No	ClinGen ExAC TOPMed gnomAD
CA382185015 rs1250727716	174	A>T		No	ClinGen TOPMed gnomAD
CA6207666 rs757424213	174	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1419899092 CA382185010	175	R>Q		No	ClinGen gnomAD
rs929500779 CA225135911	175	R>W		No	ClinGen Ensembl
CA382185003 rs1331038584	176	L>H		No	ClinGen TOPMed
CA382185004 rs1331038584	176	L>P		No	ClinGen TOPMed
CA382185001 rs1273011065	177	R>G		No	ClinGen TOPMed gnomAD
CA225135909 rs920753338	177	R>P		No	ClinGen TOPMed gnomAD
rs1349291549 CA382184996	178	T>A		No	ClinGen gnomAD
CA225135907 rs572476843	178	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA382184997 rs1349291549	178	T>P		No	ClinGen gnomAD
rs1330613710 CA382184987	179	P>L		No	ClinGen gnomAD
TCGA novel	179	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6207664 rs777764585	180	P>L		No	ClinGen ExAC TOPMed gnomAD
rs777764585 CA225135906	180	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1250513590 CA382184986	180	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs565315108 CA225135905	181	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs565315108 CA382184979	181	P>Q		No	ClinGen 1000Genomes TOPMed gnomAD
rs1307235393 CA382184972	182	P>L		No	ClinGen TOPMed gnomAD
CA382184973 rs1307235393	182	P>Q		No	ClinGen TOPMed gnomAD
CA6207663 rs548602509	183	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA225135901 rs954719188	184	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs954719188 CA382184962	184	S>W		No	ClinGen gnomAD
CA225135900 rs371659604	185	H>Y		No	ClinGen gnomAD
rs1481708121 CA382184952	186	A>S		No	ClinGen TOPMed gnomAD
rs1481708121 CA382184954	186	A>T		No	ClinGen TOPMed gnomAD
CA382184934 rs1465055694	188	T>I		No	ClinGen gnomAD
CA225135899 rs1005064640	189	P>A		No	ClinGen TOPMed
CA382184930 rs1183888305	189	P>R		No	ClinGen gnomAD
rs1301678738 CA382184921	190	N>K		No	ClinGen TOPMed
CA382184919 rs1471437529	191	Q>E		No	ClinGen TOPMed gnomAD
rs914009067 CA382184916	191	Q>L		No	ClinGen TOPMed gnomAD
CA225135898 rs914009067	191	Q>R		No	ClinGen TOPMed gnomAD
CA382184909 rs1181864984	192	H>R		No	ClinGen gnomAD
rs1443381145 CA382184904	193	H>D		No	ClinGen gnomAD
rs887992589 CA225135897	193	H>Q		No	ClinGen TOPMed
rs1281277339 CA382184897	194	A>T		No	ClinGen gnomAD
rs1199250847 CA382184893	194	A>V		No	ClinGen gnomAD
rs374968391 CA6207658	197	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374968391 CA6207659	197	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1230439020 CA382184875	198	N>H		No	ClinGen gnomAD
rs1229297926 CA382184866	199	S>P		No	ClinGen TOPMed
rs532997214 CA225135893	202	R>P		No	ClinGen 1000Genomes TOPMed gnomAD
rs532997214 COSM3383860 CA382184846 COSM3383861	202	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed gnomAD
CA382184847 rs1032098012	202	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA382184842 rs1332029776	203	G>C		No	ClinGen gnomAD
rs1392680211 CA382184841	203	G>D		No	ClinGen gnomAD
CA382184843 rs1332029776	203	G>R		No	ClinGen gnomAD
rs754203789 CA6207657	205	F>I		No	ClinGen ExAC gnomAD
CA382184825 rs766879572	205	F>L		No	ClinGen ExAC TOPMed gnomAD
rs754203789 CA382184829	205	F>L		No	ClinGen ExAC gnomAD
rs1455219178 CA382184818	206	T>M		No	ClinGen gnomAD
rs1165216331 CA382184814	207	P>Q		No	ClinGen TOPMed gnomAD
rs1165216331 CA382184813	207	P>R		No	ClinGen TOPMed gnomAD
CA382184809 rs1400135905	208	R>K		No	ClinGen Ensembl
rs1388123302 CA382184787	211	P>A		No	ClinGen gnomAD
CA382184771 rs1473292668	213	P>L		No	ClinGen gnomAD
rs1186033275 CA382184760	215	P>T		No	ClinGen gnomAD
CA6207654 rs774156074	216	T>K		No	ClinGen ExAC TOPMed gnomAD
CA382184747 rs1287966462	217	D>G		No	ClinGen TOPMed
CA382184739 rs944768628	218	H>L		No	ClinGen TOPMed gnomAD
CA382184743 rs1463617459	218	H>N		No	ClinGen gnomAD
rs944768628 CA225135892	218	H>R		No	ClinGen TOPMed gnomAD
CA382184741 rs1463617459	218	H>Y		No	ClinGen gnomAD
rs775103927 CA6207651	219	S>L		No	ClinGen ExAC gnomAD
rs1229103005 CA382184735	219	S>P		No	ClinGen gnomAD
COSM932415 COSM932416 CA6207650 rs541146378	222	G>R	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs745830367 CA6207649 CA225135891	223	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1472188003 CA382184705	224	P>H		No	ClinGen TOPMed gnomAD
rs886771772 CA225135890	225	P>S		No	ClinGen TOPMed gnomAD
CA6207648 rs780924725	226	A>G		No	ClinGen ExAC gnomAD
CA382184691 rs1189874053	227	G>S		No	ClinGen TOPMed
TCGA novel	229	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000884585 rs182302962 CA6207646	229	A>T		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA225135887 rs1038250425	229	A>V		No	ClinGen TOPMed
CA382184662 rs1391271072	231	E>D		No	ClinGen gnomAD
CA382184668 rs1378971834	231	E>K		No	ClinGen TOPMed
TCGA novel	231	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382184654 rs1213357860	233	A>T		No	ClinGen TOPMed gnomAD
CA225135885 rs943645972	234	H>Y		No	ClinGen gnomAD
CA382184631 rs991838974	236	Q>P		No	ClinGen TOPMed gnomAD
rs991838974 CA225135883	236	Q>R		No	ClinGen TOPMed gnomAD
CA6207645 rs377037323	237	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1014687153 CA225135882	242	N>S		No	ClinGen TOPMed
rs758716831 CA6207644	243	S>G		No	ClinGen ExAC gnomAD
CA382184580 rs1591115534	243	S>R		No	ClinGen Ensembl
rs752691696 CA6207643	245	I>N		No	ClinGen ExAC TOPMed
CA6207642 rs779068770	246	P>L		No	ClinGen ExAC gnomAD
rs1226178995 CA382184544	246	P>S		No	ClinGen TOPMed gnomAD
rs1226178995 CA382184546	246	P>T		No	ClinGen TOPMed gnomAD
CA382184506 rs1438131052	249	T>A		No	ClinGen TOPMed gnomAD
rs1212156015 CA382183821	251	N>D		No	ClinGen gnomAD
rs1309929814 CA382183809	253	G>S		No	ClinGen gnomAD
CA382183796 rs1291073875	254	K>N		No	ClinGen TOPMed
CA6207632 rs373286228	256	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1330819093 CA382183773	258	L>V		No	ClinGen TOPMed gnomAD
CA382183768 rs1179650771	259	G>R		No	ClinGen TOPMed
CA225134447 rs972268579	260	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs972268579 CA382183760	260	T>K		No	ClinGen gnomAD
rs550281558 CA225134446	263	D>V		No	ClinGen 1000Genomes
rs1591104858 CA382183733	264	N>T		No	ClinGen Ensembl
rs963362845 CA225134445	266	I>T		No	ClinGen gnomAD
CA225134444 rs1016708053	269	D>E		No	ClinGen gnomAD
rs1357479176 CA382183691	270	I>V		No	ClinGen gnomAD
CA382183679 rs770915750	272	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6207630 rs770915750	272	G>S		No	ClinGen ExAC TOPMed gnomAD
CA382183673 rs777667492	273	A>P		No	ClinGen ExAC TOPMed gnomAD
rs777667492 CA6207628	273	A>T		No	ClinGen ExAC TOPMed gnomAD
CA225134443 rs997352911	274	S>C		No	ClinGen gnomAD
rs997352911 CA382183665	274	S>F		No	ClinGen gnomAD
rs1472102875 CA382183668	274	S>P		No	ClinGen gnomAD
CA6207627 rs772165174	275	R>C		No	ClinGen ExAC TOPMed gnomAD
rs779124670 CA6207626	275	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1450312028 CA382183648	277	D>A		No	ClinGen TOPMed
rs1450312028 CA382183647	277	D>G		No	ClinGen TOPMed
rs1331725081 CA382183651	277	D>N		No	ClinGen TOPMed
TCGA novel	279	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1465874848 CA382183620	281	S>N		No	ClinGen gnomAD
CA382183623 rs1208762181	281	S>R		No	ClinGen gnomAD
rs1227479502 CA382183607	283	G>R		No	ClinGen gnomAD
TCGA novel	283	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA225134310 rs576407370	284	H>P		No	ClinGen 1000Genomes TOPMed gnomAD
CA6207621 rs535736889	284	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs916651457 CA225134309	285	F>C		No	ClinGen Ensembl
CA382183550 rs1295525615	289	P>H		No	ClinGen gnomAD
CA382183551 rs1295525615	289	P>L		No	ClinGen gnomAD
CA382183535 rs1591103475	292	T>P		No	ClinGen Ensembl
rs767947807 CA6207619	294	P>L		No	ClinGen ExAC TOPMed gnomAD
rs960495166 CA225134308	295	L>F		No	ClinGen gnomAD
CA382183508 rs1166076348	296	F>L		No	ClinGen Ensembl
rs1387752316 CA382183502	297	C>F		No	ClinGen gnomAD
CA382183499 rs1191795401	298	T>P		No	ClinGen gnomAD
rs927888313 CA225134307	299	T>I		No	ClinGen Ensembl
rs1591103429 CA382183487	300	S>P		No	ClinGen Ensembl
rs1173074530 CA382183468	303	Y>F		No	ClinGen TOPMed gnomAD
CA6207616 rs570928368	303	Y>N		No	ClinGen 1000Genomes ExAC gnomAD
rs375229637 CA6207615	306	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1235884513 CA382183431	309	T>A		No	ClinGen TOPMed
rs1591103388 CA382183418	311	Y>C		No	ClinGen Ensembl
CA6207613 rs766277653	313	P>S		No	ClinGen ExAC gnomAD
COSM4135706 COSM4135705 CA225134304 rs1016623744	314	P>L	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA382183397 rs1303674624	315	P>A		No	ClinGen TOPMed gnomAD
rs1303674624 CA382183395	315	P>S		No	ClinGen TOPMed gnomAD
rs759269885 CA225134303	316	R>*		No	ClinGen Ensembl
CA225134301 rs267603209	316	R>L		No	ClinGen TOPMed gnomAD
rs267603209 CA225134302	316	R>Q		No	ClinGen TOPMed gnomAD
CA382183384 rs1449724621	317	P>L		No	ClinGen TOPMed
rs774561683 CA225134300	318	L>V		No	ClinGen gnomAD
rs184938151 CA225134299	320	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
COSM932411 COSM932412 CA6207609 rs568435430	320	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA382183346 rs901986243	324	A>S		No	ClinGen TOPMed gnomAD
rs901986243 CA225134298	324	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs998880480 CA225134297	324	A>V		No	ClinGen TOPMed
CA6207606 rs373911172	325	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6207607 rs769064934	325	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6207604 rs773939766	326	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1484251845 CA382183332	327	A>D		No	ClinGen gnomAD
rs1011678921 CA225134295	328	F>I		No	ClinGen TOPMed gnomAD
rs1405155450 CA382183317	329	N>I		No	ClinGen TOPMed
CA382183299 rs1324564155	332	K>E		No	ClinGen TOPMed
rs531838713 CA225134294	335	K>R		No	ClinGen 1000Genomes TOPMed gnomAD
rs1257888688 CA382183269	336	Y>C		No	ClinGen TOPMed gnomAD
rs1210974364 CA382183264	337	C>R		No	ClinGen gnomAD
TCGA novel	338	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868705085 CA225134293	339	W>*		No	ClinGen Ensembl
rs781345515 CA6207602	342	A>T		No	ClinGen ExAC TOPMed gnomAD
COSM1218381 CA225134291 rs369432996 COSM1218382	346	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
CA6207601 COSM932405 rs552320703 COSM932406	348	V>I	oesophagus endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs532589873 CA6207600	350	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1300609754 CA382183176	350	S>P		No	ClinGen gnomAD
CA382183158 rs1412186716	352	T>I		No	ClinGen gnomAD
rs927922601 CA225134290	353	L>V		No	ClinGen TOPMed
CA6207599 rs541109300	358	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1362481884 CA382183078	360	F>L		No	ClinGen gnomAD
CA382183067 rs1443540946	361	V>L		No	ClinGen gnomAD
CA6207588 rs775673267	362	A>G		No	ClinGen ExAC TOPMed gnomAD
CA382182231 rs775673267	362	A>V		No	ClinGen ExAC TOPMed gnomAD
CA382182229 rs1445533401	363	M>V		No	ClinGen gnomAD
CA382182217 rs574784231	364	H>P		No	ClinGen gnomAD
CA225131207 rs574784231	364	H>R		No	ClinGen gnomAD
rs1210163344 CA382182210	365	L>P		No	ClinGen TOPMed gnomAD
TCGA novel	366	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	367	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150039445 CA225131205	368	L>V		No	ClinGen 1000Genomes
rs112046949 CA225131204	369	N>H		No	ClinGen Ensembl
rs1312745124 CA382182173	371	H>N		No	ClinGen TOPMed gnomAD
rs1591079999 CA382182169	371	H>P		No	ClinGen Ensembl
rs1312745124 CA382182172	371	H>Y		No	ClinGen TOPMed gnomAD
rs1245237460 CA382182163	372	L>P		No	ClinGen gnomAD
rs1169998865 CA382182152	374	P>A		No	ClinGen gnomAD
CA382182148 rs1299225763	374	P>L		No	ClinGen TOPMed gnomAD
CA382182143 rs1325438404	375	M>T		No	ClinGen gnomAD
rs1000535747 CA225131203	376	E>K		No	ClinGen TOPMed gnomAD
CA6207586 rs111280970 RCV000959712	378	Q>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA225131202 rs1025280520	378	Q>K		No	ClinGen TOPMed gnomAD
CA382182113 CA382182112 rs1162211905	379	M>I		No	ClinGen TOPMed gnomAD
CA382182118 rs1230639071	379	M>V		No	ClinGen gnomAD
CA6207585 rs368601922	380	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1390829132 CA382182091	382	I>T		No	ClinGen gnomAD
CA382182083 rs1190544356 RCV000513146	383	T>M		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1274761099 CA382182074	385	D>N		No	ClinGen gnomAD
rs747371174 CA6207583	386	T>I		No	ClinGen ExAC gnomAD
rs1289394647 CA382182049	388	S>R		No	ClinGen TOPMed gnomAD
rs1453108995 CA382182054	388	S>R		No	ClinGen TOPMed gnomAD
CA225131200 rs918147101	389	S>G		No	ClinGen TOPMed
rs568236696 CA382182030	391	P>A		No	ClinGen 1000Genomes ExAC gnomAD
COSM932403 COSM932404 CA6207582 rs568236696	391	P>S	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA225131198 rs1039461301	395	D>A		No	ClinGen Ensembl
CA6207580 rs753490323	395	D>N		No	ClinGen ExAC TOPMed gnomAD
CA382181998 rs1344198560	396	V>A		No	ClinGen TOPMed
rs3812723 CA6207579 VAR_060130	396	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	397	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1275073092 CA382181994	397	S>Y		No	ClinGen TOPMed gnomAD
CA382181988 rs1347749825	398	L>P		No	ClinGen gnomAD
CA6207578 rs755634579	400	P>T		No	ClinGen ExAC gnomAD
rs371387619 CA6207577	402	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs371387619 CA382181963	402	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs767456713 CA382181962	403	G>R		No	ClinGen ExAC TOPMed gnomAD
rs767456713 CA6207576	403	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA382181957 rs761703290	404	T>P		No	ClinGen ExAC TOPMed gnomAD
CA6207575 rs761703290	404	T>S		No	ClinGen ExAC TOPMed gnomAD
rs984792755 CA225131197	405	G>C		No	ClinGen TOPMed gnomAD
rs953420367 CA225131196	406	L>F		No	ClinGen TOPMed
rs1267078492 CA382181944	406	L>S		No	ClinGen gnomAD
CA6207574 rs751350376	408	T>N		No	ClinGen ExAC TOPMed gnomAD
rs922025493 CA225131195	409	P>H		No	ClinGen TOPMed
CA382181916 rs1483268193	410	D>E		No	ClinGen TOPMed gnomAD
CA382181919 rs1477687193	410	D>G		No	ClinGen Ensembl
rs1455162625 CA382181915	411	R>G		No	ClinGen TOPMed
rs1202439168 CA382181905	412	K>R		No	ClinGen gnomAD
CA382181900 rs1436712706	413	G>S		No	ClinGen gnomAD
rs764010967 CA6207573	414	K>E		No	ClinGen ExAC gnomAD
CA382181885 rs1441644109	415	G>*		No	ClinGen gnomAD
CA225131194 rs975229976	415	G>E		No	ClinGen TOPMed gnomAD
CA382181887 rs1441644109	415	G>R		No	ClinGen gnomAD
rs933557928 CA225131193	417	T>A		No	ClinGen TOPMed gnomAD
rs1282263206 CA382181872	417	T>R		No	ClinGen gnomAD
CA225131192 rs867661231	418	E>K		No	ClinGen Ensembl
CA225130447 rs374033066	419	G>A		No	ClinGen gnomAD
rs374033066 CA382181850	419	G>E		No	ClinGen gnomAD
CA225130446 rs1023680759	420	K>E		No	ClinGen TOPMed gnomAD
rs569217502 CA6207559	422	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs896312317 CA225130445	423	S>G		No	ClinGen TOPMed gnomAD
CA382181820 rs1418304988	424	F>L		No	ClinGen gnomAD
rs1414359872 CA382181804	426	P>A		No	ClinGen gnomAD
CA382181802 rs1183526709	426	P>L		No	ClinGen gnomAD
rs1442234634 CA382181782	429	S>G		No	ClinGen gnomAD
CA382181779 rs1242052542	429	S>T		No	ClinGen TOPMed gnomAD
rs1210346321 CA382181773	430	F>V		No	ClinGen TOPMed
CA6207558 rs757178432	430	F>Y		No	ClinGen ExAC gnomAD
rs1466005284 CA382181766	431	I>L		No	ClinGen gnomAD
rs1466005284 CA382181767	431	I>V		No	ClinGen gnomAD
rs929858988 CA225130444	436	I>T		No	ClinGen TOPMed gnomAD
CA382181732 rs1269642094	436	I>V		No	ClinGen TOPMed
rs187996084 CA6207557	438	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs865881633 CA225130442	439	G>E		No	ClinGen Ensembl
rs1038052417 CA225130443	439	G>R		No	ClinGen Ensembl
rs1316702173 CA382181708	440	R>K		No	ClinGen TOPMed gnomAD
rs1248881354 CA382181702	441	R>*		No	ClinGen gnomAD
rs763923313 CA382181701	441	R>P		No	ClinGen ExAC TOPMed gnomAD
rs763923313 CA6207556	441	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	442	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762051987 CA225130441	443	S>P		No	ClinGen Ensembl
rs1314512611 CA382181686	444	Q>*		No	ClinGen gnomAD
rs1343914757 CA382181672	446	I>F		No	ClinGen TOPMed gnomAD
CA382181654 rs1435943588	448	P>L		No	ClinGen TOPMed gnomAD
rs1364285881 CA382181648	449	G>D		No	ClinGen gnomAD
rs891039202 CA225130440	452	W>R		No	ClinGen TOPMed gnomAD
CA6207554 rs532352340	455	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA6207552 rs142408675	458	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382181579 rs376949480	459	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA382181569 rs1384042670	461	P>T		No	ClinGen TOPMed gnomAD
rs1429792127 CA382181559	462	V>A		No	ClinGen TOPMed gnomAD
CA382181563 rs1188590217	462	V>L		No	ClinGen gnomAD
rs773691801 CA6207548 RCV000585310	463	H>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA382181554 rs773691801	463	H>R		No	ClinGen ExAC TOPMed gnomAD
CA6207549 rs761109346	463	H>Y		No	ClinGen ExAC gnomAD
rs1247709684 CA382181529	467	N>D		No	ClinGen gnomAD
CA6207547 rs376984266	467	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA382181506 rs1591074417	471	G>R		No	ClinGen Ensembl
rs1291716190 CA382181487	473	A>V		No	ClinGen gnomAD
CA225130435 rs764288669	476	V>I		No	ClinGen Ensembl
TCGA novel	479	Y>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1309334646 CA382181449	480	G>S		No	ClinGen gnomAD
rs530452107 CA225130434	483	G>C		No	ClinGen 1000Genomes TOPMed
CA6207546 rs183458164	484	L>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382181420 rs183458164	484	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3810516 CA382181411 COSM3810517 rs1368014038	486	P>S	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA382181388 rs1255986743	489	T>I		No	ClinGen TOPMed
rs938749663 CA225130248	498	D>V		No	ClinGen TOPMed gnomAD
rs1297070039 CA382181305	500	R>G		No	ClinGen gnomAD
rs1466127433 CA382181285	503	L>V		No	ClinGen TOPMed gnomAD
CA382181278 rs1288683968	504	T>N		No	ClinGen TOPMed gnomAD
CA382181281 rs1591072959	504	T>P		No	ClinGen Ensembl
CA6207541 rs17137261 VAR_060131	506	E>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs981953897 CA225130247	507	A>V		No	ClinGen TOPMed gnomAD
rs932746364 CA382181255	508	R>G		No	ClinGen TOPMed gnomAD
CA382181254 rs1183136961	508	R>Q		No	ClinGen TOPMed gnomAD
COSM3788076 COSM3788075 CA225130245 rs932746364	508	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs150761356 CA6207540	509	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1249072084 CA382181241	510	L>P		No	ClinGen TOPMed gnomAD
TCGA novel	511	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382181234 rs1461832204	511	E>V		No	ClinGen TOPMed gnomAD
CA382181227 rs1433635372	512	G>E		No	ClinGen gnomAD
rs777849950 CA6207539	512	G>R		No	ClinGen ExAC gnomAD
CA382181221 rs1175182573	513	T>I		No	ClinGen gnomAD
CA382181226 rs1591072871	513	T>P		No	ClinGen Ensembl
rs758451846 CA6207538	514	P>L		No	ClinGen ExAC TOPMed gnomAD
COSM1357254 rs1333862005 CA382181214 COSM1357255	515	R>C	pancreas large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA6207536 rs764967851	515	R>H		No	ClinGen ExAC TOPMed gnomAD
CA382181196 rs1396035828	518	R>G		No	ClinGen gnomAD
CA382181195 rs1396035828	518	R>W		No	ClinGen gnomAD
CA225130244 rs757154988	521	V>M		No	ClinGen Ensembl
rs1017274988 CA225130243	522	P>L		No	ClinGen TOPMed gnomAD
rs754015316 CA6207534	522	P>S		No	ClinGen ExAC gnomAD
CA382181168 rs79508298	523	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6207533 rs79508298	523	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1405767852 CA382181169	523	P>S		No	ClinGen gnomAD
TCGA novel	524	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1591072765 CA382181165	524	S>P		No	ClinGen Ensembl
rs954475773 CA225130242	525	S>G		No	ClinGen TOPMed gnomAD
rs1030446769 CA225130240	526	H>R		No	ClinGen TOPMed
rs924568393 CA225130241	526	H>Y		No	ClinGen Ensembl
rs760735543 CA225130239	529	G>D		No	ClinGen ExAC gnomAD
CA6207532 rs760735543	529	G>V		No	ClinGen ExAC gnomAD
CA382181116 rs1245094838	531	I>T		No	ClinGen TOPMed gnomAD
rs968439537 CA225130238	542	A>G		No	ClinGen TOPMed gnomAD
CA382181034 rs1323521706	543	F>L		No	ClinGen TOPMed
rs543183944 CA6207530	547	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382180980 rs1206617501	550	S>A		No	ClinGen gnomAD
TCGA novel	551	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1348275829 CA382180966	552	V>M		No	ClinGen gnomAD
rs1246693581 CA382180953	554	S>F		No	ClinGen gnomAD
CA382180926 rs1471936744	558	T>S		No	ClinGen TOPMed
rs1591072692 CA382180921	559	A>D		No	ClinGen Ensembl
rs1312327139 CA382180923	559	A>T		No	ClinGen gnomAD
rs768906608 CA6207527	560	I>V		No	ClinGen ExAC TOPMed gnomAD
CA225125948 rs767518041	562	S>L		No	ClinGen TOPMed gnomAD
rs1424089581 CA382184562	562	S>P		No	ClinGen gnomAD
rs1474570861 CA382184547	563	V>A		No	ClinGen gnomAD
CA225125946 rs562273134	563	V>L		No	ClinGen Ensembl
CA382184550 rs562273134	563	V>M		No	ClinGen Ensembl
rs539031637 CA225125945	564	D>N		No	ClinGen 1000Genomes TOPMed
TCGA novel	565	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1372750310 CA382184473	568	S>R		No	ClinGen gnomAD
rs1199814228 CA382184469	569	N>T		No	ClinGen gnomAD
CA382184471 rs1170871225	569	N>Y		No	ClinGen gnomAD
CA382184417 rs1221733377	576	C>Y		No	ClinGen gnomAD
TCGA novel	577	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs576393662 CA6207513	577	I>N		No	ClinGen 1000Genomes ExAC gnomAD
CA382184397 rs1274553621	579	G>A		No	ClinGen gnomAD
CA225125943 COSM4004519 COSM4004520 rs889343909	579	G>R	ovary [Cosmic]	No	ClinGen cosmic curated Ensembl
rs200151130 CA6207511	580	T>P		No	ClinGen ExAC gnomAD
CA382184346 rs1347853089	587	F>L		No	ClinGen gnomAD
CA382184344 rs1285663536	587	F>Y		No	ClinGen TOPMed
CA382184320 rs1227092539	591	D>A		No	ClinGen TOPMed
CA225125941 rs933300819	591	D>N		No	ClinGen TOPMed
rs764719922 CA6207509	593	G>C		No	ClinGen ExAC gnomAD
rs1292350213 CA382184277	595	A>V		No	ClinGen TOPMed
rs1042781930 CA225125735	596	S>C		No	ClinGen Ensembl
CA225125734 rs559914503	599	V>G		No	ClinGen 1000Genomes
CA6207501 rs374785058	599	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs768680070 CA6207498	602	S>R		No	ClinGen ExAC TOPMed gnomAD
rs371427024 CA6207497	603	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6207496 rs760808415	608	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1175483639 CA382184194	608	M>T		No	ClinGen gnomAD
CA382184197 rs760808415	608	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1469167261 CA382184180	610	G>R		No	ClinGen gnomAD
CA382184148 rs1185016423	614	C>Y		No	ClinGen gnomAD
CA382184137 rs1459667948	616	S>G		No	ClinGen gnomAD
rs1262142502 CA382184134	616	S>N		No	ClinGen gnomAD
CA382184126 rs1209783358	617	G>D		No	ClinGen gnomAD
CA382184123 rs1317902498	618	W>R		No	ClinGen gnomAD
rs750647178 CA6207495	619	K>E		No	ClinGen ExAC TOPMed gnomAD
rs76738817 CA6207493	621	A>T		No	ClinGen ExAC TOPMed gnomAD
rs751728217 CA6207492	622	E>G		No	ClinGen ExAC gnomAD
rs1315774769 CA382184096	622	E>K		No	ClinGen gnomAD
rs374126261 COSM3416265 COSM3416264 CA225125732	624	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs868160010 CA225125731	626	P>S		No	ClinGen Ensembl
CA382184063 rs1156806655	627	T>P		No	ClinGen gnomAD
rs1158277597 CA382184050	628	N>K		No	ClinGen TOPMed
rs763566005 CA6207490	630	C>R		No	ClinGen ExAC gnomAD
CA6207488 rs560830049	632	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA6207489 rs370767956	632	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs984185110 CA225125729	633	V>A		No	ClinGen Ensembl
CA382184014 rs1365457794	634	A>D		No	ClinGen TOPMed
CA225125728 rs953890233	634	A>P		No	ClinGen gnomAD
rs953890233 CA382184016	634	A>T		No	ClinGen gnomAD
CA225125727 rs916246254	636	S>G		No	ClinGen TOPMed gnomAD
rs1214131423 CA382184001	636	S>N		No	ClinGen TOPMed gnomAD
rs921111906 CA225125726	638	H>R		No	ClinGen TOPMed gnomAD
rs1293158567 CA382183970	640	T>I		No	ClinGen gnomAD
CA225125725 rs752573807 COSM1357245 COSM1357244	643	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1168084848 CA382183945	644	G>D		No	ClinGen TOPMed
CA382183938 rs1312267163	645	T>I		No	ClinGen gnomAD
rs773017104 CA6207486	647	I>V		No	ClinGen ExAC gnomAD
rs510833 CA225125723	649	N>K		No	ClinGen Ensembl
rs1286857056 CA382183911	649	N>S		No	ClinGen gnomAD
rs1288996549 CA382183906	650	P>A		No	ClinGen TOPMed
rs529992617 CA225125722	653	K>R		No	ClinGen TOPMed gnomAD
rs771912708 CA6207485	654	G>S		No	ClinGen ExAC gnomAD
CA382183871 rs1367443440	655	E>D		No	ClinGen gnomAD
CA6207483 rs773957257	655	E>K		No	ClinGen ExAC TOPMed gnomAD
rs968353531 CA225125721	658	E>K		No	ClinGen Ensembl
CA6207482 rs768426452	660	V>M		No	ClinGen ExAC TOPMed gnomAD
CA382183139 rs1414817113	661	D>V		No	ClinGen TOPMed
rs201567517 CA6207471	662	C>G		No	ClinGen 1000Genomes ExAC
rs1460398111 CA382183124	662	C>Y		No	ClinGen TOPMed
CA6207470 rs759970081	663	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1163002370 CA382183106	663	M>T		No	ClinGen TOPMed
rs1481660492 CA382183073	665	P>L		No	ClinGen gnomAD
rs754291585 CA6207469	665	P>S		No	ClinGen ExAC TOPMed gnomAD
rs200271895 CA6207467	668	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs773692737 CA6207466	669	G>A		No	ClinGen ExAC TOPMed gnomAD
CA382183030 rs773692737	669	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1156794390 CA382183033	669	G>S		No	ClinGen gnomAD
CA6207464 rs376494916	670	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6207465 rs763663817	670	R>W		No	ClinGen ExAC gnomAD
rs1370618984 CA382183022	671	G>D		No	ClinGen TOPMed gnomAD
rs1392624516 CA382183024	671	G>R		No	ClinGen TOPMed gnomAD
rs1392624516 CA382183025	671	G>S		No	ClinGen TOPMed gnomAD
CA382183020 rs1370618984	671	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1330245044 CA382183015	672	V>A		No	ClinGen gnomAD
CA6207462 rs769789491	673	C>G		No	ClinGen ExAC gnomAD
CA6207461 rs745632267	673	C>Y		No	ClinGen ExAC gnomAD
rs199597779 CA6207459	674	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA382182996 rs1183248766	675	R>S		No	ClinGen gnomAD
rs1482884506 CA382182999	675	R>T		No	ClinGen TOPMed
CA382182989 COSM1719746 rs1193400951 COSM1719745	677	E>K	NS Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs375506357 CA225125101	679	H>D		No	ClinGen ESP
CA382182970 rs1469227181	679	H>R		No	ClinGen gnomAD
CA225125100 rs531047971	683	G>A		No	ClinGen Ensembl
CA6207455 rs748300251	684	W>L		No	ClinGen ExAC TOPMed gnomAD
CA382182932 rs1369578266	685	G>R		No	ClinGen TOPMed
TCGA novel	688	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382182904 rs1245215041	689	C>Y		No	ClinGen gnomAD
rs779526196 CA6207454	690	E>K		No	ClinGen ExAC TOPMed gnomAD
rs367826626 CA6207452	691	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3355824 CA6207453 rs367826626 COSM3355823	691	T>N	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs866961124 CA225125099	692	P>S		No	ClinGen Ensembl
rs766879511 CA6207451	693	R>K		No	ClinGen ExAC gnomAD
TCGA novel	693	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374861307 CA6207450	694	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA6207449 rs751236898	696	C>Y		No	ClinGen ExAC gnomAD
CA225125098 rs536409102	698	D>N		No	ClinGen gnomAD
CA382182843 rs1159630807	699	Q>*		No	ClinGen gnomAD
rs763710670 CA6207448	699	Q>P		No	ClinGen ExAC gnomAD
CA382182842 rs763710670	699	Q>R		No	ClinGen ExAC gnomAD
rs368277119 CA6207446	704	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6207445 rs567601027	705	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA6207444 rs759482315	705	T>I		No	ClinGen ExAC gnomAD
CA382182803 rs759482315	705	T>S		No	ClinGen ExAC gnomAD
rs1262213531 CA382182791	707	L>F		No	ClinGen gnomAD
rs924989886 CA225125096	708	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs924989886 CA382182784	708	P>R		No	ClinGen TOPMed gnomAD
rs773458228 CA6207440	710	T>P		No	ClinGen ExAC gnomAD
CA6207437 rs779150923	711	G>E		No	ClinGen ExAC gnomAD
rs748228946 CA6207438	711	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1384287952 CA382182741	715	C>G		No	ClinGen gnomAD
CA382182737 rs1298190370	715	C>W		No	ClinGen gnomAD
rs749845727 CA6207435	715	C>Y		No	ClinGen ExAC gnomAD
rs1385603403 CA382182729	716	D>E		No	ClinGen TOPMed gnomAD
CA6207434 rs756479952	717	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6207433 rs756479952	717	P>R		No	ClinGen ExAC TOPMed gnomAD
CA6207432 rs750793566	718	S>G		No	ClinGen ExAC gnomAD
rs1161645035 CA382182721	718	S>N		No	ClinGen gnomAD
CA382182717 rs1472566660	719	W>R		No	ClinGen gnomAD
rs763798753 CA6207431 CA382182701	721	G>R		No	ClinGen ExAC gnomAD
CA6207430 rs571702529	722	H>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1476722929 CA382182695	722	H>P		No	ClinGen gnomAD
rs1223213256 CA382182689	723	D>N		No	ClinGen gnomAD
rs764729552 CA6207428	725	S>T		No	ClinGen ExAC gnomAD
rs759427227	726	I>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1490691419 CA382182662	727	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1243610692 CA382182639	728	I>V		No	ClinGen Ensembl
CA382182632 rs1188167592	729	C>R		No	ClinGen TOPMed
CA6207366 rs778343842	732	D>H		No	ClinGen ExAC TOPMed gnomAD
CA6207367 rs778343842	732	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	733	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1312353860 CA382182603	733	C>Y		No	ClinGen gnomAD
CA382182596 rs1565378919	734	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA6207364 rs753325324	737	G>D		No	ClinGen ExAC TOPMed gnomAD
CA382182574 rs760546987	738	V>L		No	ClinGen ExAC TOPMed gnomAD
rs760546987 CA6207362	738	V>M		No	ClinGen ExAC TOPMed gnomAD
CA382182568 rs1464301265	739	C>R		No	ClinGen gnomAD
rs1432332457 CA382182557	740	V>G		No	ClinGen TOPMed
CA6207360 COSM1357243 COSM1357242 rs370272010	740	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA382182552 rs1171983399	741	G>E		No	ClinGen TOPMed gnomAD
CA382182556 rs1422966959	741	G>R		No	ClinGen gnomAD
rs762080102 CA6207359	742	G>A		No	ClinGen ExAC gnomAD
CA382182547 rs762080102	742	G>D		No	ClinGen ExAC gnomAD
rs1457001783 CA382182541	743	T>I		No	ClinGen gnomAD
rs769042058 CA6207357	743	T>P		No	ClinGen ExAC gnomAD
CA6207356 rs763121716	745	R>C		No	ClinGen ExAC gnomAD
rs561987247 CA6207355	745	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561987247 CA6207354	745	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1277107566 CA382182527	746	C>G		No	ClinGen gnomAD
rs768259798 CA6207352	747	E>K		No	ClinGen ExAC gnomAD
rs771305818 CA6207351 CA382182484	751	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1474531799 CA382182488	751	M>T		No	ClinGen TOPMed gnomAD
rs747420000 CA6207350	752	G>E		No	ClinGen ExAC
rs1376362538 CA382182483	752	G>R		No	ClinGen gnomAD
rs1357263378 CA382182465	755	C>R		No	ClinGen TOPMed gnomAD
CA6207346 rs779438921	756	D>A		No	ClinGen ExAC gnomAD
rs753335970 CA6207347	756	D>N		No	ClinGen ExAC TOPMed gnomAD
rs750353231 CA225123206	758	R>P		No	ClinGen ExAC gnomAD
CA6207344 rs750353231	758	R>Q		No	ClinGen ExAC gnomAD
CA225123207 rs773251664	758	R>W		No	ClinGen TOPMed gnomAD
CA382182437 rs1484430869	759	A>V		No	ClinGen gnomAD
rs1236131749 CA382182424	761	H>R		No	ClinGen gnomAD
rs1209896347 CA382182415	762	P>L		No	ClinGen gnomAD
rs751467112 CA6207341	763	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA382182409 rs1238051499	764	C>R		No	ClinGen gnomAD
CA6207339 rs763097623	765	A>T		No	ClinGen ExAC gnomAD
rs775572268 CA6207338	765	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs760037052 CA382182396	766	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760037052 CA6207336	766	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA6207335 rs776978697	769	T>P		No	ClinGen ExAC gnomAD
rs771465298 CA6207334	770	C>Y		No	ClinGen ExAC gnomAD
rs747366543 CA6207333	771	R>C		No	ClinGen ExAC TOPMed gnomAD
rs548492856 CA225123205	771	R>H		No	ClinGen gnomAD
CA382182361 rs548492856	771	R>L		No	ClinGen gnomAD
rs375389326 COSM1605272 CA6207330 COSM1605271	772	D>E	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs201592066 CA6207331	772	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382182353 rs373463824	773	G>C		No	ClinGen ESP TOPMed gnomAD
CA225123204 rs373463824	773	G>S		No	ClinGen ESP TOPMed gnomAD
rs755560010 CA6207328	774	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	775	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751342249 CA6207325	776	E>D		No	ClinGen ExAC gnomAD
CA6207326 rs556434614	776	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1223889814 CA382182327	777	C>R		No	ClinGen gnomAD
rs952804108 CA225123203	777	C>Y		No	ClinGen TOPMed
CA6207321 rs752883920	778	S>R		No	ClinGen ExAC TOPMed gnomAD
CA6207322 rs368806075	778	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1342210550 CA382182313	779	P>S		No	ClinGen gnomAD
rs1555080708 RCV000512861	784	E>missing		No	ClinVar dbSNP
CA225123202 rs867363808	784	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1412382672 CA382182269	785	H>R		No	ClinGen TOPMed
rs766854452	788	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs374780385 CA6207319	788	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761178978 COSM3687671 CA6207316 COSM196742	789	A>T	large_intestine Variant assessed as Somatic; 5.011e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs766480591 CA6207300	790	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA6207298 rs750910735	793	D>V		No	ClinGen ExAC TOPMed gnomAD
rs781589545 CA6207299	793	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs78279199 CA6207297	794	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382132011 rs1200202726	795	V>E		No	ClinGen TOPMed
rs1241672392 CA382130720	800	C>Y		No	ClinGen gnomAD
CA382130707 rs1350936202	801	P>R		No	ClinGen gnomAD
rs866776342 CA224956415	803	L>F		No	ClinGen Ensembl
CA224956406 rs941127675	805	N>H		No	ClinGen TOPMed gnomAD
rs1246313679 CA382130668	805	N>I		No	ClinGen TOPMed gnomAD
rs1246313679 CA382130669	805	N>S		No	ClinGen TOPMed gnomAD
rs1180594991 CA382130658	806	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs985650619 CA224956391	808	G>S		No	ClinGen TOPMed gnomAD
rs1402039412 CA382130604	811	T>I		No	ClinGen gnomAD
rs772112114 CA6207287	814	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1358756933 CA382130559	816	G>S		No	ClinGen gnomAD
CA382130530 rs1437250652	818	H>R		No	ClinGen TOPMed
CA382130533 rs1473220605	818	H>Y		No	ClinGen gnomAD
CA382130507 rs1423092663	820	V>D		No	ClinGen gnomAD
CA382130510 rs1423092663	820	V>G		No	ClinGen gnomAD
CA6207283 rs372765091	820	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA382130467 rs1284640499	824	G>D		No	ClinGen gnomAD
CA382130471 rs1303693522	824	G>S		No	ClinGen TOPMed
rs1591011248 CA382130458	825	W>*		No	ClinGen Ensembl
TCGA novel	825	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382130417 rs1357959225	829	G>S		No	ClinGen gnomAD
rs1243065032 CA382130382	832	T>N		No	ClinGen gnomAD
rs750570107 CA6207280	833	S>T		No	ClinGen ExAC gnomAD
rs1279365026 CA382130357	835	E>K		No	ClinGen gnomAD
CA6207277 rs200778282	839	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000238818 CA10586008 rs879255354	841	S>R		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA6207276 rs377170654	844	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6207264 rs756386973	850	V>A		No	ClinGen ExAC gnomAD
rs1420855089 CA382128109	852	C>F		No	ClinGen TOPMed
rs745891961 CA6207263	852	C>R		No	ClinGen ExAC gnomAD
CA382128093 rs1590998537	854	D>A		No	ClinGen Ensembl
rs1457887139 CA382128087	855	P>A		No	ClinGen gnomAD
rs1457887139 CA382128086	855	P>S		No	ClinGen gnomAD
TCGA novel	855	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1168453754 CA382128070	857	C>S		No	ClinGen TOPMed
CA382128046 rs1456759687	860	Q>H		No	ClinGen gnomAD
CA6207257 rs555732369	862	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766114047 CA6207256	865	I>T		No	ClinGen ExAC TOPMed
CA382128011 rs1347786792	866	N>D		No	ClinGen gnomAD
CA6207255 rs760415394	866	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs376224501 CA6207254	867	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774317123 CA6207252	867	P>L		No	ClinGen ExAC TOPMed gnomAD
rs774317123 CA6207251	867	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA6207253 rs376224501	867	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	870	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382127973 rs1353758778	872	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6207248 rs775279496	873	P>L		No	ClinGen ExAC gnomAD
CA224948800 rs990103374	875	P>L		No	ClinGen Ensembl
rs549997412 CA6207246	878	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1171413993 CA382127908	882	T>R		No	ClinGen gnomAD
rs1439844175 CA382127902	883	Q>P		No	ClinGen gnomAD
rs533421205 CA6207245	885	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382127873 rs1176443435	888	Q>*		No	ClinGen gnomAD
rs1590998406 CA382127852	890	N>K		No	ClinGen Ensembl
rs1281562959 CA382127842	892	H>R		No	ClinGen TOPMed
CA6207242 rs778419016	893	S>F		No	ClinGen ExAC gnomAD
CA6207243 rs188166086	893	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA224948773 rs778419016	893	S>Y		No	ClinGen ExAC gnomAD
CA382127835 rs1260536913	894	F>I		No	ClinGen TOPMed
CA6207240 rs753050946	895	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA382127827 rs1277128919	895	Y>N		No	ClinGen gnomAD
rs1354578705 CA382127814	896	D>E		No	ClinGen TOPMed gnomAD
rs765696833 CA6207239	897	R>C		No	ClinGen ExAC TOPMed gnomAD
rs765696833 CA382127811	897	R>G		No	ClinGen ExAC TOPMed gnomAD
rs755784769 CA6207238	897	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	900	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382127789 rs1172925975	900	F>S		No	ClinGen TOPMed
CA6207235 rs761384133	902	V>G		No	ClinGen ExAC TOPMed gnomAD
rs547738962 CA382127779 CA6207237	902	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547738962 CA6207236	902	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs763963055 CA6207233	905	D>G		No	ClinGen ExAC gnomAD
CA382127756 rs1294491150	906	S>G		No	ClinGen gnomAD
rs762883831 CA6207232	906	S>T		No	ClinGen ExAC gnomAD
rs775225883 CA6207231	907	T>M		No	ClinGen ExAC gnomAD
CA382127725 rs1329404060	910	I>S		No	ClinGen TOPMed
rs1320445568 CA382127728	910	I>V		No	ClinGen TOPMed
CA6207229 rs759297983	911	P>L		No	ClinGen ExAC gnomAD
CA382127720 rs1438638183	911	P>S		No	ClinGen gnomAD
CA382127715 rs1236221100	912	G>E		No	ClinGen gnomAD
rs771124363 CA6207228	912	G>R		No	ClinGen ExAC TOPMed gnomAD
rs771124363 CA6207227	912	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA382127707 rs542165366	913	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	913	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA224948704 CA6207224 rs183776911	916	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1214574455 CA382127685	917	D>N		No	ClinGen TOPMed gnomAD
CA6207222 rs779367718	918	G>E		No	ClinGen ExAC gnomAD
rs1290941936 CA382127677	918	G>R		No	ClinGen gnomAD
CA382127673 rs779367718	918	G>V		No	ClinGen ExAC gnomAD
rs554290319 CA6207204	920	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554290319 CA6207203	920	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769105201 CA6207202	921	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6207201 rs749611883	923	V>L		No	ClinGen ExAC TOPMed gnomAD
rs374688338 CA6207200	925	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1452737087 CA382126911	925	R>H		No	ClinGen TOPMed
TCGA novel	928	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3687669 RCV000952966 COSM3687668 rs76283314 CA6207198	930	T>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs756893898 CA6207199	930	T>S		No	ClinGen ExAC gnomAD
CA6207197 rs777452028	932	D>G		No	ClinGen ExAC TOPMed gnomAD
CA6207196 rs757872169	933	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA382126824 rs757872169	933	G>V		No	ClinGen ExAC gnomAD
rs1416705374 CA382126816	934	T>N		No	ClinGen TOPMed
TCGA novel	936	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6207193 rs759404311	938	G>D		No	ClinGen ExAC gnomAD
CA224939556 rs200422375	940	N>K		No	ClinGen 1000Genomes
CA382126756 rs1226654676	941	I>L		No	ClinGen gnomAD
CA382126752 rs1300202774	941	I>T		No	ClinGen TOPMed
rs1312733916 CA382126747	942	S>G		No	ClinGen gnomAD
CA6207191 rs766114694	946	N>H		No	ClinGen ExAC TOPMed gnomAD
CA224939548 rs947553322	947	P>L		No	ClinGen gnomAD
CA6207190 rs760900410	948	L>P		No	ClinGen ExAC gnomAD
CA382126660 rs1402957057	949	F>L		No	ClinGen gnomAD
CA6207189 rs773543096	951	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1461875533 CA382126620	953	I>T		No	ClinGen TOPMed gnomAD
CA382126610 rs1347930918	954	S>N		No	ClinGen TOPMed
rs1220413831 CA382126604	954	S>R		No	ClinGen TOPMed
CA224936922 rs747847751	961	D>E		No	ClinGen Ensembl
CA382126368 rs1310341823	962	L>S		No	ClinGen TOPMed
rs1000499905 CA224936918	962	L>V		No	ClinGen TOPMed
CA6207168 rs764103605	964	T>K		No	ClinGen ExAC TOPMed gnomAD
CA6207166 rs141471364 RCV000953661	965	N>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1188359 COSM1188360 rs1198088971 CA382126321	967	G>S	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	967	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA224936884 rs866714114	969	S>F		No	ClinGen Ensembl
CA6207164 rs746216487	970	I>V		No	ClinGen ExAC gnomAD
CA6207160 rs754421992	973	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6207159 rs754421992	973	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201737432 COSM1218387 CA6207161 COSM1218388	973	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs190748251 CA6207156	975	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM467472 CA382126233 rs1341498279 COSM467473	976	R>Q	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs750180695 CA6207155	977	A>S		No	ClinGen ExAC TOPMed gnomAD
CA382126222 rs1413432539	977	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA382126192 rs1300944999	980	I>M		No	ClinGen TOPMed
rs373597617 CA6207154	980	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs757506241 CA6207153	983	E>K		No	ClinGen ExAC gnomAD
CA6207152 rs751710316	984	H>P		No	ClinGen ExAC TOPMed gnomAD
CA382126147 rs1590976391	985	T>P		No	ClinGen Ensembl
CA382126136 rs1458189779	986	L>V		No	ClinGen gnomAD
CA382126119 rs1369936747	987	W>C		No	ClinGen gnomAD
COSM240959 rs562229153 CA224936772	987	W>R	prostate [Cosmic]	No	ClinGen cosmic curated Ensembl
CA382126108 rs1474806601	989	P>A		No	ClinGen gnomAD
CA6207150 rs762935979	989	P>L		No	ClinGen ExAC gnomAD
rs755164200 CA224936766	990	W>R		No	ClinGen Ensembl
CA382126082 rs1590976322	991	D>G		No	ClinGen Ensembl
rs1195203941 CA382126089	991	D>N		No	ClinGen gnomAD
COSM932379 CA6207149 rs752878204 COSM932380	992	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6207148 rs760040389	992	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6207147 rs760040389	992	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6207146 rs776937260	994	F>L		No	ClinGen ExAC gnomAD
CA382126051 rs1218141713	994	F>S		No	ClinGen TOPMed
CA382126056 rs776937260	994	F>V		No	ClinGen ExAC gnomAD
CA382126032 rs1358065924	996	M>V		No	ClinGen gnomAD
rs751990098 CA224936741	998	T>S		No	ClinGen Ensembl
rs1275391439 CA382125981	1000	I>T		No	ClinGen gnomAD
CA382125964 rs1278937316	1001	M>I		No	ClinGen TOPMed
CA224936732 rs954232489	1001	M>T		No	ClinGen gnomAD
CA382125946 rs1231863815	1003	H>P		No	ClinGen gnomAD
TCGA novel	1005	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1459971613 CA382125926	1005	E>K		No	ClinGen TOPMed
rs1279462158 CA382125870	1009	P>H		No	ClinGen TOPMed gnomAD
CA382125872 rs1279462158	1009	P>L		No	ClinGen TOPMed gnomAD
CA382125812 rs1483815434	1014	S>R		No	ClinGen TOPMed
CA6207142 rs773841864	1015	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1387513322 CA382125781	1016	F>I		No	ClinGen TOPMed gnomAD
CA224936717 rs953382937	1018	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6207140 rs748691958	1018	R>H		No	ClinGen ExAC TOPMed gnomAD
CA382125727 rs1424230452	1019	P>L		No	ClinGen TOPMed gnomAD
rs868178493 CA224936710	1021	P>S		No	ClinGen Ensembl
COSM1218376 CA6207138 COSM1218375 rs769818383	1023	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1371957640 CA382125668	1024	S>P		No	ClinGen gnomAD
rs1590976198 CA382125636	1026	S>Y		No	ClinGen Ensembl
CA382125581 rs1358332761	1027	P>L		No	ClinGen TOPMed
CA382125577 rs1399657923	1028	L>M		No	ClinGen TOPMed
CA6207136 rs781327845	1029	T>A		No	ClinGen ExAC TOPMed gnomAD
rs757089839 CA6207135	1029	T>M		No	ClinGen ExAC TOPMed gnomAD
rs752652886 CA6207131	1032	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6207130 rs376631231	1033	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs759983457 CA6207129	1033	S>N		No	ClinGen ExAC TOPMed gnomAD
CA382125513 rs759983457	1033	S>T		No	ClinGen ExAC TOPMed gnomAD
CA382125497 rs1590976155	1034	S>C		No	ClinGen Ensembl
rs201629484 CA224936684	1035	C>R		No	ClinGen 1000Genomes
rs766909798 CA6207127	1037	E>D		No	ClinGen ExAC gnomAD
CA382125453 rs1439866746	1038	K>E		No	ClinGen gnomAD
CA6207126 rs760940373	1039	G>D		No	ClinGen ExAC gnomAD
CA382125398 rs755452984	1041	I>M		No	ClinGen TOPMed
COSM3935645 RCV001301047 CA6207125 rs773642439 COSM3935644	1043	P>L	oesophagus [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
TCGA novel	1044	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762701928 CA6207123	1045	I>V		No	ClinGen ExAC gnomAD
CA6207098 rs199949924	1047	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1450145154 CA382123772	1051	E>A		No	ClinGen TOPMed
CA224935290 rs964474255	1053	S>A		No	ClinGen TOPMed gnomAD
CA382123721 rs1349753594	1054	I>V		No	ClinGen TOPMed gnomAD
rs779100178 CA382123666	1057	C>F		No	ClinGen ExAC TOPMed gnomAD
CA6207097 rs747930397	1057	C>G		No	ClinGen ExAC gnomAD
COSM1218378 COSM1218377 CA6207096 rs779100178	1057	C>Y	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA382123623 rs1346582883	1060	R>S		No	ClinGen TOPMed gnomAD
CA6207095 rs755248479	1063	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA382123597 rs1590973843	1063	Y>S		No	ClinGen Ensembl
CA382123553 rs1164223025	1067	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs756533379 CA6207092	1067	R>W		No	ClinGen ExAC gnomAD
CA382123542 rs1476439950	1068	T>I		No	ClinGen gnomAD
CA6207090 rs767950158	1069	P>A		No	ClinGen ExAC gnomAD
rs1488694189 CA382123531	1069	P>L		No	ClinGen gnomAD
rs1444186134 CA382123518	1071	Y>H		No	ClinGen TOPMed
rs757638678 CA6207089	1080	T>A		No	ClinGen ExAC gnomAD
rs1590973799 CA382123413	1081	H>P		No	ClinGen Ensembl
CA382123416 rs1234905744	1081	H>Y		No	ClinGen gnomAD
CA6207087 rs764922741	1082	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs368394260 CA224935238	1083	T>I		No	ClinGen ESP TOPMed gnomAD
CA382123378 rs1429535166	1084	I>T		No	ClinGen gnomAD
rs1286642519 COSM3398160 COSM3398159 CA382123383	1084	I>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	1086	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765936751 CA6207084	1087	N>S		No	ClinGen ExAC TOPMed gnomAD
rs893667142 CA224935236	1088	L>V		No	ClinGen Ensembl
CA6207083 rs773167379	1089	M>L		No	ClinGen ExAC TOPMed gnomAD
rs773167379 CA6207082	1089	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1416321837 CA382123309	1090	K>N		No	ClinGen gnomAD
rs879068753 CA224935226	1091	V>G		No	ClinGen Ensembl
rs1164895199 CA382123304	1091	V>L		No	ClinGen gnomAD
CA382123290 rs1590973741	1092	H>P		No	ClinGen Ensembl
CA6207080 rs747922682	1092	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs774139090 CA6207079	1096	A>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774139090 CA382123246	1096	A>V		No	ClinGen ExAC TOPMed gnomAD
CA382123237 rs1375762232	1097	V>A		No	ClinGen gnomAD
CA382123226 rs1247576060	1098	E>G		No	ClinGen gnomAD
CA382123216 rs1590973715	1099	G>A		No	ClinGen Ensembl
rs749538415 COSM3687666 COSM3687667 CA6207077	1100	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs780193847 CA224935207	1100	R>H		No	ClinGen ExAC TOPMed gnomAD
rs780193847 CA6207076	1100	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1272438251 CA382123185	1102	F>L		No	ClinGen gnomAD
rs1199147375 CA382123176	1103	R>S		No	ClinGen gnomAD
CA382123130 rs746002346	1107	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6207074 rs746002346	1107	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6207072 COSM3810511 COSM3810512 rs757720188	1108	A>T	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1001969207 CA224935186	1112	L>M		No	ClinGen Ensembl
rs1443542827 CA382123069	1113	S>C		No	ClinGen gnomAD
TCGA novel	1114	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751904355 CA6207071	1114	Y>C		No	ClinGen ExAC gnomAD
rs371168354 CA6207070	1115	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6207069 rs754627201	1116	F>L		No	ClinGen ExAC gnomAD
CA6207068 rs753518649	1117	I>T		No	ClinGen ExAC gnomAD
CA382123000 rs1428052290	1119	D>Y		No	ClinGen gnomAD
rs1465773315 CA382122991	1120	K>Q		No	ClinGen TOPMed
rs1251538156 CA382122977	1121	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1395895733 CA382122974	1121	T>K		No	ClinGen gnomAD
rs370394958 CA6207064	1123	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA382122946 rs1252090549	1125	N>S		No	ClinGen TOPMed gnomAD
CA382122940 rs1478777278	1126	Q>*		No	ClinGen TOPMed
rs1177585356 CA382122938	1126	Q>R		No	ClinGen gnomAD
rs774086084 CA6207062	1127	K>N		No	ClinGen ExAC gnomAD
CA224935163 rs556858741	1128	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA224935152 rs868132648	1130	G>W		No	ClinGen Ensembl
rs1565352530 CA382122909	1131	L>I		No	ClinGen Ensembl
CA382122899 rs1231579392	1132	S>L		No	ClinGen gnomAD
rs762781020 CA6207060	1132	S>P		No	ClinGen ExAC TOPMed gnomAD
CA382122898 rs1369802186	1133	E>K		No	ClinGen gnomAD
rs538881762 CA382122587	1138	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382122510 rs1356672394	1144	S>Y		No	ClinGen TOPMed gnomAD
rs375607076 CA382122487	1147	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375607076 CA6207049	1147	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1149	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs536747454 CA6207048	1152	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1156	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA224932877 rs530364831	1160	G>C		No	ClinGen TOPMed
rs1201218759 CA382122387	1162	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs762723848 CA6207044	1163	I>T		No	ClinGen ExAC TOPMed gnomAD
rs689369 CA6207041	1164	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6207042 rs769994566	1164	D>G		No	ClinGen ExAC TOPMed gnomAD
rs775163380 CA6207043	1164	D>N		No	ClinGen ExAC gnomAD
COSM1218384 CA6207039 rs550968777 COSM1218383	1165	A>T	large_intestine Variant assessed as Somatic; 0.0009746 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA6207038 rs751731151	1165	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1368464256 CA382122344	1168	L>P		No	ClinGen gnomAD
rs748484706 CA6207035	1170	G>R		No	ClinGen ExAC gnomAD
rs1303057454 CA382122276	1175	K>E		No	ClinGen TOPMed
CA382122260 rs1228170698	1176	H>Y		No	ClinGen gnomAD
rs1565350859 CA382122234	1178	A>G		No	ClinGen Ensembl
rs755745184 CA6207033	1179	L>F		No	ClinGen ExAC TOPMed gnomAD
rs745488399 CA6207032	1180	N>S		No	ClinGen ExAC gnomAD
rs748626873 CA6207017	1184	G>A		No	ClinGen ExAC gnomAD
rs774972974 CA6207016	1185	I>V		No	ClinGen ExAC gnomAD
CA382121325 rs1425251507	1190	N>S		No	ClinGen TOPMed
rs768872161 CA6207015	1192	E>K		No	ClinGen ExAC gnomAD
CA6207014 rs749728177	1194	Q>*		No	ClinGen ExAC
CA382121230 rs1323669583	1194	Q>R		No	ClinGen gnomAD
CA6207013 CA6207012 rs200612048	1196	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6207011 rs746453335	1197	S>P		No	ClinGen ExAC gnomAD
CA382121164 rs1565349261	1197	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA6207010 rs777299006	1200	P>S		No	ClinGen ExAC gnomAD
CA6207009 rs565805963	1203	I>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1204	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6207008 rs752550989	1205	S>I		No	ClinGen ExAC gnomAD
CA6207007 rs765255470	1207	M>I		No	ClinGen ExAC gnomAD
CA382120991 rs1475474683	1207	M>R		No	ClinGen TOPMed
TCGA novel	1208	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1016732729 CA224931274	1209	N>I		No	ClinGen Ensembl
CA6207004 rs766649764	1211	R>C		No	ClinGen ExAC TOPMed gnomAD
rs555336301 CA6207003	1211	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs368593142 CA6207001	1212	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs371317384 COSM385112 COSM385111 CA6207002	1212	R>W	lung breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA382120872 rs1452684149	1214	S>G		No	ClinGen TOPMed gnomAD
CA6206999 rs774717758	1214	S>R		No	ClinGen ExAC gnomAD
CA224931255 rs879058500	1215	I>L		No	ClinGen Ensembl
rs1051773629 CA224931252	1215	I>T		No	ClinGen Ensembl
CA382120829 rs1590967802	1216	S>P		No	ClinGen Ensembl
CA6206998 rs769264084	1218	P>A		No	ClinGen ExAC gnomAD
TCGA novel	1220	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs543381484 CA6206997	1221	N>S		No	ClinGen ExAC gnomAD
TCGA novel	1221	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6206995 rs764166454	1222	G>S		No	ClinGen ExAC gnomAD
rs569641503 CA6206992	1225	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA224931247 rs1047015849	1225	D>Y		No	ClinGen TOPMed
rs776760211 CA6206991	1226	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA382120575 rs1436139001	1231	A>D		No	ClinGen gnomAD
TCGA novel	1232	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754955637 CA6206988	1233	V>A		No	ClinGen ExAC gnomAD
rs936461118 CA224931230	1234	A>V		No	ClinGen Ensembl
rs1590967699 CA382120531	1236	T>P		No	ClinGen Ensembl
CA382120488 rs1485101486	1240	D>H		No	ClinGen TOPMed
CA6206984 rs375133114	1241	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382120463 rs1436600762	1242	S>I		No	ClinGen TOPMed gnomAD
CA6206983 rs767847626	1243	L>F		No	ClinGen ExAC gnomAD
rs751677117 CA6206981	1245	V>M		No	ClinGen ExAC gnomAD
CA224931198 rs941884273	1246	G>R		No	ClinGen TOPMed
rs764445309 CA6206980	1247	D>G		No	ClinGen ExAC gnomAD
rs1218405558 CA382120406	1248	F>L		No	ClinGen gnomAD
rs1351184914 CA382120375	1250	Y>C		No	ClinGen TOPMed gnomAD
CA382120365 rs1439875400	1251	I>L		No	ClinGen TOPMed gnomAD
CA382120366 rs1439875400	1251	I>V		No	ClinGen TOPMed gnomAD
rs1379255017 CA382120345	1253	R>G		No	ClinGen TOPMed
rs1565349082 CA382120324	1254	I>M		No	ClinGen Ensembl
CA382120332 rs1565349088	1254	I>V		No	ClinGen Ensembl
CA382120302 rs1565349073	1256	P>L		No	ClinGen Ensembl
rs1195904662 CA382120307	1256	P>S		No	ClinGen TOPMed
rs1349812936 CA382120299	1257	S>P		No	ClinGen gnomAD
rs1385994057 CA382120245	1262	N>S		No	ClinGen TOPMed
CA6206977 rs547224784	1265	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1384126090 CA382120218	1265	E>Q		No	ClinGen TOPMed
rs866343117 CA224931184	1266	L>M		No	ClinGen Ensembl
TCGA novel	1267	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382120083 rs1565348040	1268	N>S		No	ClinGen Ensembl
CA6206956 rs777067345	1269	K>T		No	ClinGen ExAC gnomAD
rs771556118 CA382120058	1270	D>A		No	ClinGen ExAC TOPMed gnomAD
rs771556118 CA6206955	1270	D>G		No	ClinGen ExAC TOPMed gnomAD
CA224930519 rs369921564	1272	R>K		No	ClinGen ESP TOPMed
CA6206954 rs761557428	1272	R>S		No	ClinGen ExAC
rs202046911 CA6206953	1273	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382151871 rs1264854309	1276	S>G		No	ClinGen TOPMed gnomAD
CA6206937 rs760992133	1277	P>A		No	ClinGen ExAC gnomAD
rs763898748 CA6206935	1279	H>Q		No	ClinGen ExAC gnomAD
rs775145562 CA6206933	1281	Y>N		No	ClinGen ExAC gnomAD
TCGA novel	1282	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382151827 rs1590959842	1282	Y>S		No	ClinGen Ensembl
rs1304545369 CA382151797	1287	P>T		No	ClinGen gnomAD
rs1366101193 CA382151790	1288	M>V		No	ClinGen gnomAD
CA382151779 rs1308049734	1289	S>N		No	ClinGen TOPMed
rs1565344785 CA382151765	1291	A>D		No	ClinGen Ensembl
rs776483085 CA6206930	1292	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6206929 rs770730818	1294	L>F		No	ClinGen ExAC gnomAD
rs778040411 CA6206927	1298	N>K		No	ClinGen ExAC gnomAD
CA6206926 rs758629996	1299	S>G		No	ClinGen ExAC TOPMed gnomAD
rs778995940 CA6206924	1299	S>N		No	ClinGen ExAC TOPMed gnomAD
CA6206925 rs778995940	1299	S>T		No	ClinGen ExAC TOPMed gnomAD
rs754346137 CA6206922	1300	R>L		No	ClinGen ExAC TOPMed gnomAD
rs754346137 CA382151709	1300	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6206921 rs371993500	1301	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1348152890 CA382151700	1302	V>G		No	ClinGen gnomAD
rs1590959753 CA382151703	1302	V>I		No	ClinGen Ensembl
CA382151680 rs1210003623	1305	I>V		No	ClinGen TOPMed
rs1238468748 CA382151669	1306	K>R		No	ClinGen TOPMed
rs1310857302 CA382151649	1309	V>A		No	ClinGen gnomAD
rs1236932737 CA382151654	1309	V>M		No	ClinGen gnomAD
CA6206919 rs750766943	1310	V>M		No	ClinGen ExAC gnomAD
CA6206918 rs763773455	1311	V>M		No	ClinGen ExAC gnomAD
CA382151630 rs1484439189	1313	D>N		No	ClinGen TOPMed
rs762729414 CA6206917	1315	V>L		No	ClinGen ExAC gnomAD
CA6206916 rs559054035	1318	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs138148769 CA6206915	1319	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1416962565 CA382151581	1320	V>L		No	ClinGen TOPMed
CA6206914 rs201680932	1321	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6206913 rs200340921	1322	A>V	Variant assessed as Somatic; 9.282e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs760456132 CA6206911	1325	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1590959658 CA382151547	1326	D>A		No	ClinGen Ensembl
CA382151515 rs1359598622	1330	P>A		No	ClinGen TOPMed
TCGA novel	1331	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1159582133 CA382151497	1331	F>Y		No	ClinGen gnomAD
rs1590959635 CA382151425	1334	T>P		No	ClinGen Ensembl
COSM2019818 rs1277524987 COSM2019819 CA382151400	1335	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA382151408 rs1277524987	1335	R>G		No	ClinGen TOPMed gnomAD
rs772241911 CA6206909	1335	R>H		No	ClinGen ExAC TOPMed gnomAD
rs772241911 CA6206910	1335	R>L		No	ClinGen ExAC TOPMed gnomAD
CA382151358 rs1180812388	1337	G>R		No	ClinGen gnomAD
rs1299976423 CA382151322	1338	D>G		No	ClinGen TOPMed
rs912687808 CA224955943	1339	G>R		No	ClinGen TOPMed
CA224955939 rs988425387	1343	T>I		No	ClinGen TOPMed gnomAD
CA382151207 rs988425387	1343	T>K		No	ClinGen TOPMed gnomAD
CA382151182 rs1482730141	1344	E>G		No	ClinGen gnomAD
CA6206905 rs749386349	1344	E>K		No	ClinGen ExAC gnomAD
rs567659476 CA6206904	1346	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1565344656 CA382151116	1347	L>F		No	ClinGen Ensembl
CA6206901 rs781709920	1351	R>K		No	ClinGen ExAC TOPMed
CA6206886 rs372822859	1352	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs367588977 CA6206883	1354	T>I		No	ClinGen ESP ExAC gnomAD
CA6206884 rs367588977	1354	T>R		No	ClinGen ESP ExAC gnomAD
rs1383680386 CA382149548	1358	F>S		No	ClinGen gnomAD
RCV000886253 rs200821670 CA6206880	1361	I>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6206879 rs754587488	1362	Y>C		No	ClinGen ExAC gnomAD
rs892237369 CA382149461	1363	F>L		No	ClinGen TOPMed gnomAD
rs370492629 CA6206877	1364	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6206878 rs370492629	1364	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs763485258 CA6206875	1367	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1340978674 CA382149410	1367	T>S		No	ClinGen Ensembl
rs376488079 CA6206874	1368	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs761540661 CA6206873	1369	I>L		No	ClinGen ExAC gnomAD
CA6206871 rs374934640 COSM932364 COSM932363	1371	R>C	Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs374934640 CA382149336	1371	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA382149328 rs1249272927	1371	R>H		No	ClinGen TOPMed
rs374934640 CA6206872	1371	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs539542652 CA224954017	1373	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
CA382149222 rs1270178367	1377	I>M		No	ClinGen TOPMed gnomAD
CA224954013 rs904749986	1378	I>V		No	ClinGen gnomAD
CA6206867 rs746014119	1380	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6206866 rs777267487	1380	T>N		No	ClinGen ExAC gnomAD
CA382149190 rs746014119	1380	T>P		No	ClinGen ExAC TOPMed gnomAD
rs746014119 CA6206868	1380	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1340326511 CA382149178	1381	L>M		No	ClinGen gnomAD
rs1183184347 CA382149154	1383	G>S		No	ClinGen TOPMed
CA6206863 rs778025775	1384	S>F		No	ClinGen ExAC gnomAD
CA6206864 rs747308870	1384	S>T		No	ClinGen ExAC gnomAD
rs754606983 CA6206862	1385	N>K		No	ClinGen ExAC gnomAD
rs748869982 CA6206861	1386	D>E		No	ClinGen ExAC TOPMed gnomAD
CA224953991 rs866609416	1386	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs779794630 CA6206860	1388	T>A		No	ClinGen ExAC gnomAD
rs376235404 CA6206858	1388	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6206859 rs376235404	1388	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1168345801 CA382149057	1390	A>P		No	ClinGen gnomAD
rs369898476 CA6206855	1391	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs373349956 CA6206856	1391	R>W		No	ClinGen ESP ExAC gnomAD
CA382148929 rs1467658791	1398	V>F		No	ClinGen TOPMed
rs748505989 CA224953959	1400	D>A		No	ClinGen ExAC TOPMed gnomAD
CA6206852 rs748505989	1400	D>G		No	ClinGen ExAC TOPMed gnomAD
rs762851307 CA224953962	1400	D>N		No	ClinGen ExAC gnomAD
rs748505989 CA382148896	1400	D>V		No	ClinGen ExAC TOPMed gnomAD
rs762851307 CA6206853	1400	D>Y		No	ClinGen ExAC gnomAD
CA382146670 rs1176695922	1404	V>I		No	ClinGen TOPMed
CA6206840 rs745342573	1409	P>A		No	ClinGen ExAC gnomAD
CA6206838 rs756811298	1410	T>P		No	ClinGen ExAC
rs1329723538 CA382146605	1413	A>V		No	ClinGen TOPMed gnomAD
rs1351303794 CA382146585	1416	P>R		No	ClinGen gnomAD
CA382146588 rs1199720248	1416	P>T		No	ClinGen gnomAD
rs777835234 CA6206836	1417	M>V		No	ClinGen ExAC gnomAD
CA6206835 rs758118710	1419	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs752553424 CA6206834	1421	L>I		No	ClinGen ExAC gnomAD
CA6206832 rs202074383	1425	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1214746713 CA382146513	1427	N>D		No	ClinGen TOPMed
rs766541446 CA6206830	1428	V>M		No	ClinGen ExAC TOPMed gnomAD
rs773588451 CA6206828	1431	Q>H		No	ClinGen ExAC gnomAD
CA382146477 rs1220151193	1432	I>M		No	ClinGen TOPMed
rs780601935 CA382146455	1435	N>K		No	ClinGen TOPMed
rs1590950998 CA382146457	1435	N>T		No	ClinGen Ensembl
rs1161944312 CA382146448	1436	H>Q		No	ClinGen gnomAD
rs772692474 CA6206827	1436	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs543359413 CA6206826	1439	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA6206824 rs201076845 RCV000895916	1439	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6206825 rs201076845	1439	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs543359413 CA382146433	1439	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745499494 CA6206823	1441	V>A		No	ClinGen ExAC gnomAD
CA6206820 rs777517764	1443	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1269805721 CA382146406	1444	R>K		No	ClinGen TOPMed gnomAD
CA6206817 rs191709491	1446	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1273199056 CA382146391	1446	M>R		No	ClinGen gnomAD
CA6206818 rs201627026	1446	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1431044981 CA382146375	1448	C>F		No	ClinGen gnomAD
rs1283288669 CA382146379	1448	C>R		No	ClinGen gnomAD
TCGA novel	1451	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA224950936 rs373847798	1453	I>L		No	ClinGen ESP TOPMed gnomAD
CA224950941 rs373847798	1453	I>V		No	ClinGen ESP TOPMed gnomAD
rs754081135 CA6206815	1455	H>Y		No	ClinGen ExAC gnomAD
rs1243562334 CA382146320	1456	F>L		No	ClinGen TOPMed
CA6206814 rs766772507	1457	L>M		No	ClinGen ExAC gnomAD
CA6206813 rs760657360	1457	L>R		No	ClinGen ExAC TOPMed gnomAD
rs370520099 CA224950922	1459	S>N		No	ClinGen ESP TOPMed gnomAD
CA224950912 rs971899214	1461	V>E		No	ClinGen Ensembl
CA224950917 rs953107198	1461	V>M		No	ClinGen TOPMed
CA382146224 rs1565339434	1463	I>F		No	ClinGen Ensembl
TCGA novel	1464	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382146172 rs1239668343	1465	A>G		No	ClinGen TOPMed
rs182220231 CA6206810	1465	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774771199 CA6206809	1467	L>V		No	ClinGen ExAC TOPMed gnomAD
CA382146090 rs1464386535	1470	A>T		No	ClinGen gnomAD
CA224950876 rs985823523	1471	T>I		No	ClinGen gnomAD
COSM932359 rs776255394 CA6206806 COSM932360	1472	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6206805 rs770588404	1473	L>F		No	ClinGen ExAC TOPMed gnomAD
rs370829010 CA6206804	1474	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1475	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1229028928 CA382146005	1475	V>I		No	ClinGen gnomAD
CA6206802 rs771852058	1478	N>D		No	ClinGen ExAC TOPMed gnomAD
CA382145939 rs771852058	1478	N>H		No	ClinGen ExAC TOPMed gnomAD
rs200630789 COSM932358 CA6206801 COSM932357	1478	N>S	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA224950862 rs937422336	1479	G>E		No	ClinGen TOPMed gnomAD
CA382145890 rs1439245244	1480	V>L		No	ClinGen gnomAD
TCGA novel	1481	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1164175109 CA382145849	1482	Y>H		No	ClinGen gnomAD
CA6206798 rs370081442	1483	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs780364953 CA6206797	1486	T>A		No	ClinGen ExAC gnomAD
rs1166454739 CA382145766	1486	T>S		No	ClinGen gnomAD
TCGA novel	1487	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA224950845 rs1032355299	1490	K>N		No	ClinGen gnomAD
CA6206796 rs756391724	1490	K>R		No	ClinGen ExAC TOPMed gnomAD
CA6206795 rs71471420	1492	N>S		No	ClinGen ExAC TOPMed gnomAD
CA224950840 rs71471420	1492	N>T		No	ClinGen ExAC TOPMed gnomAD
CA6206794 rs767614186	1493	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs201135194 CA6206793	1493	R>H		No	ClinGen ExAC TOPMed gnomAD
rs752059393 CA6206792	1495	R>S		No	ClinGen ExAC TOPMed gnomAD
rs868125910 CA224950827	1497	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6206791 rs764646016	1499	T>A		No	ClinGen ExAC gnomAD
CA6206790 rs763249245	1499	T>I		No	ClinGen ExAC TOPMed gnomAD
CA224950787 rs71473383	1501	G>E		No	ClinGen Ensembl
rs765972604 CA6206788	1501	G>R		No	ClinGen ExAC gnomAD
rs972380612 CA224950779	1504	S>A		No	ClinGen TOPMed
CA224950777 rs1043286853	1505	L>P		No	ClinGen TOPMed gnomAD
CA6206784 rs747677047	1506	V>A		No	ClinGen ExAC gnomAD
rs550019697 CA6206785	1506	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1349871776 CA382145400	1507	A>S		No	ClinGen gnomAD
rs768727566 CA6206782	1509	A>D		No	ClinGen ExAC gnomAD
CA382145356 rs1182229254	1510	P>R		No	ClinGen gnomAD
rs894560000 COSM932351 CA224950745 COSM932352	1510	P>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	1511	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1590950626 CA382145315	1513	C>W		No	ClinGen Ensembl
CA382145320 rs1203947427	1513	C>Y		No	ClinGen gnomAD
rs1485795360 CA382145230	1519	A>D		No	ClinGen gnomAD
CA382145217 rs1406646286	1520	N>K		No	ClinGen gnomAD
CA382145219 rs1469497535	1520	N>S		No	ClinGen TOPMed
CA6206778 rs376909228	1522	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA382145163 rs1226559173	1524	F>S		No	ClinGen Ensembl
CA6206777 rs539785794	1525	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA224950729 rs539785794	1525	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1301249641 CA382145140	1526	G>E		No	ClinGen gnomAD
CA382145129 rs1383257541	1527	D>G		No	ClinGen TOPMed
CA382145137 rs1229577295	1527	D>N		No	ClinGen gnomAD
rs1361219152 CA382145116	1528	D>G		No	ClinGen TOPMed
CA6206775 rs369707945	1528	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA382145031 rs1409378899	1534	A>G		No	ClinGen gnomAD
CA382145020 rs1381870231	1535	K>R		No	ClinGen gnomAD
TCGA novel	1535	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201389910 CA6206773	1538	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6206771 rs564341349	1543	A>T		No	ClinGen ExAC gnomAD
CA6206770 rs759856095	1545	C>R		No	ClinGen ExAC gnomAD
COSM1717187 COSM1717186 rs1458781055 CA382144885	1546	A>D	NS [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	1546	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382144864 rs1565339165	1547	D>E		No	ClinGen Ensembl
CA6206769 rs772910164	1547	D>N		No	ClinGen ExAC gnomAD
CA382144852 rs1424012887	1548	G>A		No	ClinGen gnomAD
rs1180840524 CA382144858	1548	G>R		No	ClinGen TOPMed gnomAD
rs1477653453 CA382144787	1551	Y>F		No	ClinGen gnomAD
rs199784483 CA6206767	1552	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA224950708 rs1010885630	1553	A>T		No	ClinGen TOPMed
CA224950691 COSM196728 rs1033019883	1554	D>E	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA382144695 rs1209837271	1556	G>E		No	ClinGen TOPMed gnomAD
CA6206764 COSM545380 COSM545381 rs749216369	1559	R>*	lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA6206763 rs775610240 COSM1357232 COSM1357233	1559	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs745710630 CA6206761	1561	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA224950655 rs371433282	1563	I>V		No	ClinGen ESP TOPMed gnomAD
rs771067289 CA6206759	1564	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs781121962 CA6206760	1564	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1565	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1437112114 CA382144517	1565	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA224950652 rs949278124	1569	F>I		No	ClinGen TOPMed
CA382144435 rs1157763456	1569	F>Y		No	ClinGen gnomAD
rs1344472048 CA382144371	1572	T>A		No	ClinGen TOPMed
CA224950649 rs896293501	1572	T>I		No	ClinGen TOPMed gnomAD
CA224950646 rs975748078	1574	N>T		No	ClinGen TOPMed
rs747054177 CA6206758	1575	M>T		No	ClinGen ExAC gnomAD
CA224950645 rs956562026	1575	M>V		No	ClinGen TOPMed gnomAD
CA382144264 rs1422888637	1577	E>K		No	ClinGen gnomAD
TCGA novel	1579	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6206757 rs777848560	1581	P>T		No	ClinGen ExAC gnomAD
CA382144160 rs1246771436	1582	I>M		No	ClinGen gnomAD
CA382144166 rs1590950387	1582	I>T		No	ClinGen Ensembl
rs758518569 CA6206756	1582	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1346723174 CA382144065	1587	Y>*		No	ClinGen TOPMed
CA6206755 rs753169052	1587	Y>S		No	ClinGen ExAC gnomAD
rs1359009805 CA382143960	1592	T>N		No	ClinGen gnomAD
CA224950615 rs940615738	1594	K>E		No	ClinGen TOPMed
CA382143916 rs1565339040	1594	K>N		No	ClinGen Ensembl
rs767129747 CA6206751	1595	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	1599	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs551046518 CA224950608	1600	S>R		No	ClinGen TOPMed gnomAD
CA6206749 rs751305661	1601	L>M		No	ClinGen ExAC TOPMed gnomAD
CA382143784 rs1200265273	1602	P>L		No	ClinGen TOPMed
CA382143791 rs1490201666	1602	P>S		No	ClinGen TOPMed
CA6206746 rs775486549	1613	T>I		No	ClinGen ExAC TOPMed gnomAD
CA224950583 rs775486549	1613	T>N		No	ClinGen ExAC TOPMed gnomAD
CA6206744 rs747412492	1616	G>S		No	ClinGen ExAC TOPMed gnomAD
CA6206742 COSM3383849 rs771139493 COSM3383848	1617	D>N	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1452697349 CA382143427	1619	T>I		No	ClinGen TOPMed gnomAD
rs894536585 CA224950552	1620	L>V		No	ClinGen Ensembl
CA382143221 rs1490245326 CA382143227	1628	M>I		No	ClinGen TOPMed gnomAD
rs201868385 CA6206740	1628	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA382143205 rs1242833996	1629	V>A		No	ClinGen TOPMed
rs772131708 CA6206739	1631	V>I		No	ClinGen ExAC TOPMed gnomAD
CA6206738 rs368506803	1632	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs754190422 CA6206735	1633	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1332823308 CA382143146	1633	R>Q		No	ClinGen gnomAD
TCGA novel	1634	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382143090 rs1565338932	1635	S>F		No	ClinGen Ensembl
rs371545691 CA6206734	1638	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA382142994 rs1565338916	1639	P>L		No	ClinGen Ensembl
CA6206733 rs756587746	1639	P>S		No	ClinGen ExAC gnomAD
CA382142877 rs1590950158	1643	V>G		No	ClinGen Ensembl
CA382142890 rs763900351	1643	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6206731 rs763900351	1643	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6206729 rs752156297	1647	G>V		No	ClinGen ExAC gnomAD
rs765185601 CA6206728	1649	V>M		No	ClinGen ExAC gnomAD
CA6206727 rs759418548	1650	Y>S		No	ClinGen ExAC gnomAD
CA224950510 rs373010579	1652	V>M		No	ClinGen ESP TOPMed
CA382142583 rs1480177209	1654	M>V		No	ClinGen gnomAD
CA382142555 rs1252672226	1655	G>S		No	ClinGen gnomAD
CA6206726 rs776676395	1657	N>K		No	ClinGen ExAC gnomAD
rs770678522 CA6206725	1658	S>N		No	ClinGen ExAC gnomAD
CA382142372 rs760527169	1661	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1163268106 CA382142393	1661	K>Q		No	ClinGen TOPMed
rs1024420477 CA224950480	1662	S>G		No	ClinGen TOPMed gnomAD
CA382142357 rs1200891502	1662	S>N		No	ClinGen gnomAD
CA6206723 rs773407680	1663	V>M		No	ClinGen ExAC gnomAD
rs1193117890 CA382142315	1664	T>N		No	ClinGen gnomAD
CA6206722 rs772293282	1665	T>I		No	ClinGen ExAC TOPMed gnomAD
CA382142239 rs1449392967	1667	G>R		No	ClinGen TOPMed
rs774324627 CA6206720	1669	E>K		No	ClinGen ExAC gnomAD
rs201497367 CA6206719	1672	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA382142162 rs1407552128	1672	M>L		No	ClinGen TOPMed gnomAD
CA224950454 rs1036610743	1672	M>R		No	ClinGen TOPMed
rs1407552128 CA382142164	1672	M>V		No	ClinGen TOPMed gnomAD
CA6206718 rs377537356	1676	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs756534663 CA6206716	1680	G>S		No	ClinGen ExAC TOPMed gnomAD
rs777502608 CA6206714	1683	A>E		No	ClinGen ExAC gnomAD
rs746250130 CA6206715	1683	A>T		No	ClinGen ExAC gnomAD
CA6206713 rs369416614	1684	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1187974211 CA382141951	1686	S>G		No	ClinGen gnomAD
TCGA novel	1686	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA224950427 rs931823130	1687	N>D		No	ClinGen Ensembl
rs75749344 CA224950426	1689	N>K		No	ClinGen ExAC TOPMed gnomAD
CA6206709 rs753711216	1690	G>E		No	ClinGen ExAC gnomAD
rs528761321 CA224950423	1690	G>R		No	ClinGen TOPMed gnomAD
CA224950418 rs543165849	1692	T>I		No	ClinGen 1000Genomes
CA6206692 rs200713317	1698	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753399520 CA6206691	1699	S>I		No	ClinGen ExAC gnomAD
rs766235028 CA6206690	1702	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs756075933 CA6206689 COSM429928 COSM429929	1702	R>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs756075933 CA224942674	1702	R>L		No	ClinGen ExAC TOPMed gnomAD
CA382138442 rs1324295516	1705	N>D		No	ClinGen gnomAD
rs1383688319 CA382138434	1706	V>L		No	ClinGen gnomAD
rs371313766 CA224942664	1709	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA382138405 rs1482691162	1710	T>I		No	ClinGen TOPMed
CA382138404 rs1449897205	1711	G>S		No	ClinGen gnomAD
CA6206688 rs750168212	1714	S>G		No	ClinGen ExAC TOPMed gnomAD
CA6206687 rs767277720	1715	S>G		No	ClinGen ExAC gnomAD
rs1485512005 CA382138375	1715	S>N		No	ClinGen gnomAD
CA382138359 rs761735333	1717	R>L		No	ClinGen ExAC TOPMed gnomAD
rs761735333 CA6206686	1717	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774424482 CA224942624	1720	T>I		No	ClinGen ExAC gnomAD
CA6206685 rs774424482	1720	T>K		No	ClinGen ExAC gnomAD
CA6206682 rs775746851	1721	D>E		No	ClinGen ExAC gnomAD
rs762876610 CA6206683	1721	D>N		No	ClinGen ExAC gnomAD
rs1300276287 CA382138331	1722	S>G		No	ClinGen gnomAD
rs1213263925 CA382138310	1725	H>Y		No	ClinGen gnomAD
rs770379416 CA6206681	1726	V>G		No	ClinGen ExAC gnomAD
CA382138293 rs1275508063	1727	Q>H		No	ClinGen gnomAD
CA6206679 rs777322462	1729	E>D		No	ClinGen ExAC gnomAD
CA382138281 rs1168796448	1729	E>G		No	ClinGen TOPMed
CA382138269 rs1370410760	1731	S>C		No	ClinGen TOPMed
CA6206678 rs771191896	1731	S>P		No	ClinGen ExAC gnomAD
CA382138260 rs1565332604	1732	S>R		No	ClinGen Ensembl
CA382138258 rs1430676354	1733	K>E		No	ClinGen gnomAD
CA6206677 rs367830600	1734	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs267603208 CA224942597	1734	D>N		No	ClinGen Ensembl
CA224942587 rs909355183	1735	D>G		No	ClinGen TOPMed gnomAD
rs1427848593 CA382138238	1736	V>I		No	ClinGen gnomAD
CA382138227 rs1425840299	1737	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA224942586 rs965848850	1738	I>T		No	ClinGen Ensembl
rs1373683631 CA382138225	1738	I>V		No	ClinGen TOPMed
CA382138148 rs1479142782	1744	A>V		No	ClinGen gnomAD
rs768356690 CA6206675	1745	S>L		No	ClinGen ExAC gnomAD
rs779560391 CA6206673	1747	A>T		No	ClinGen ExAC gnomAD
rs140736587 CA6206672	1752	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6206671 rs750329526	1754	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1316559610 CA382136972	1755	Q>E		No	ClinGen gnomAD
rs1229135752 CA382136969	1755	Q>R		No	ClinGen TOPMed gnomAD
CA224933620 rs754531954	1757	R>G		No	ClinGen ExAC TOPMed gnomAD
rs200318543 CA6206655	1757	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6206656 rs754531954	1757	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6206654 rs769280005	1758	N>S		No	ClinGen ExAC gnomAD
CA6206653 rs745395614	1760	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs751261787 CA382136930	1761	Y>*		No	ClinGen ExAC gnomAD
CA6206651 rs757247880	1761	Y>C		No	ClinGen ExAC gnomAD
CA382136932 rs757247880	1761	Y>F		No	ClinGen ExAC gnomAD
rs777599746 CA6206649	1762	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1159218874 CA382136927	1762	I>V		No	ClinGen gnomAD
CA382136919 rs1304368237	1763	G>A		No	ClinGen TOPMed gnomAD
rs1304368237 CA382136918	1763	G>E		No	ClinGen TOPMed gnomAD
rs78133229 CA224933548	1765	D>H		No	ClinGen ExAC TOPMed gnomAD
rs78133229 CA6206645	1765	D>N		No	ClinGen ExAC TOPMed gnomAD
rs78133229 CA6206644	1765	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1185884924 CA382136896	1767	S>C		No	ClinGen gnomAD
rs761269282 CA6206642 COSM1259888 COSM1259887	1769	R>Q	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs766758919 CA6206643	1769	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1486869266 CA382136878	1771	L>V		No	ClinGen gnomAD
CA224933530 rs979109665	1773	A>G		No	ClinGen TOPMed
rs575393534 CA6206640	1775	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1331895256 CA382136850	1776	M>L		No	ClinGen TOPMed
rs1322617772 CA382136840	1777	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1231509015 CA382136830	1778	V>A		No	ClinGen TOPMed
CA6206639 rs112224496	1779	A>V		No	ClinGen ExAC gnomAD
rs745340596 CA6206636 CA382136813	1781	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs769439475 CA382136815	1781	Q>P		No	ClinGen ExAC gnomAD
rs769439475 CA6206637	1781	Q>R		No	ClinGen ExAC gnomAD
rs776224530 CA6206635	1783	E>D		No	ClinGen ExAC gnomAD
rs1013302995 CA382136784	1786	L>V		No	ClinGen TOPMed gnomAD
rs1287795194 CA382136768	1788	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6206633 rs577360738	1791	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382136739 rs1165840027	1793	P>R		No	ClinGen gnomAD
rs779214042 CA6206629	1795	V>A		No	ClinGen ExAC gnomAD
rs201960718 CA6206631	1795	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201960718 CA6206630	1795	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755284324 CA6206628	1796	G>S		No	ClinGen ExAC gnomAD
rs200327703 CA6206626	1799	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1458045138 CA382136705	1799	N>I		No	ClinGen TOPMed
rs370803896 CA6206625	1801	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA224933413 rs1011568972	1803	P>S		No	ClinGen gnomAD
CA382136679 rs1298066491	1804	I>V		No	ClinGen TOPMed gnomAD
rs762097519 CA6206622	1805	D>H		No	ClinGen ExAC gnomAD
CA6206623 rs762097519	1805	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA382136661 rs1481919173	1806	N>I		No	ClinGen gnomAD
rs202020330 CA6206620	1807	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202020330 CA6206619	1807	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382136652 rs1243481306	1808	L>F		No	ClinGen gnomAD
CA382136653 rs1243481306	1808	L>V		No	ClinGen gnomAD
rs1423614947 CA382136600	1813	W>C		No	ClinGen TOPMed gnomAD
CA382136613 rs1316780446	1813	W>R		No	ClinGen TOPMed gnomAD
COSM196722 CA224933379 rs912426848 COSM932348	1814	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs770466860 CA6206617	1814	R>H		No	ClinGen ExAC gnomAD
TCGA novel	1816	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs940545514 CA224933334	1817	K>R		No	ClinGen gnomAD
TCGA novel	1818	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs907615676 CA382136517	1818	E>D		No	ClinGen TOPMed
rs1192529800 CA382136534	1818	E>K		No	ClinGen gnomAD
CA224933323 rs373584472	1820	A>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6206615 rs373584472	1820	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs747915374 CA6206613	1821	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6206614 rs772143588	1821	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6206612 rs778876768	1823	Q>E		No	ClinGen ExAC gnomAD
CA382136454 rs1197403577	1823	Q>L		No	ClinGen gnomAD
CA6206611 rs754872057	1829	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA382136367 rs1393046009	1829	R>H		No	ClinGen TOPMed gnomAD
CA382136361 rs1250643833	1830	R>G		No	ClinGen TOPMed gnomAD
rs925239438 CA224933268	1830	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1250643833 COSM1357230 COSM1357231 CA382136359	1830	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	1832	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6206609 rs780208260	1832	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1402947525 CA382136347	1832	R>W		No	ClinGen TOPMed
rs368814082 CA6206588	1835	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM246182 CA6206587 rs752054887 COSM246183	1836	R>*	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6206583 rs766019045	1840	S>C		No	ClinGen ExAC TOPMed gnomAD
rs766019045 CA382135840	1840	S>Y		No	ClinGen ExAC TOPMed gnomAD
COSM1357229 CA382135787 COSM1357228 rs1213950721	1845	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs760270892 CA6206582	1845	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM2019733 CA6206580 rs567221953 COSM2019732	1846	V>I	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1565326043 CA382135764	1847	T>A		No	ClinGen Ensembl
rs761483068 CA6206579	1848	R>C		No	ClinGen ExAC gnomAD
CA6206578 rs369387606	1848	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs772977333 CA6206577 RCV000904841	1849	T>A		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1279332630 CA382135694	1853	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1247222266 CA382135688	1854	D>H		No	ClinGen gnomAD
CA382135669 rs1590929089	1855	D>A		No	ClinGen Ensembl
CA382135674 rs1385468109	1855	D>N		No	ClinGen gnomAD
TCGA novel	1855	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs977013281 CA382135644	1857	R>G		No	ClinGen TOPMed gnomAD
CA224930805 rs375398771	1857	R>H		No	ClinGen ESP TOPMed gnomAD
rs977013281 CA224930812	1857	R>S		No	ClinGen TOPMed gnomAD
CA382135602 rs1590929069	1860	T>P		No	ClinGen Ensembl
rs372403377 CA6206575	1861	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1862	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368379990 CA6206573	1862	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs775169708 CA6206574	1862	R>W		No	ClinGen ExAC gnomAD
CA382135574 rs1442046944	1863	I>F		No	ClinGen TOPMed
rs969886766 CA224930784	1865	Y>N		No	ClinGen TOPMed
rs781457620 CA6206571	1866	D>N		No	ClinGen ExAC gnomAD
rs1159503809 CA382135527	1867	Q>H		No	ClinGen TOPMed gnomAD
rs747100917 CA382135522	1868	A>G		No	ClinGen ExAC TOPMed gnomAD
rs201082605 CA6206570	1868	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747100917 CA6206569	1868	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6206567 rs758862894	1870	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1450015058 CA382135514	1870	R>W		No	ClinGen gnomAD
CA382135510 rs1590928996	1871	P>A		No	ClinGen Ensembl
CA6206565 RCV000971333 rs199973967	1871	P>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA382135506 rs1590928986	1872	S>R		No	ClinGen Ensembl
CA382135502 rs1472139455	1872	S>T		No	ClinGen gnomAD
rs1448780341 CA382135487	1874	W>L		No	ClinGen TOPMed
CA224930748 rs1022527566	1882	G>A		No	ClinGen Ensembl
CA6206562 rs767337464	1884	N>D		No	ClinGen ExAC TOPMed gnomAD
rs377174822 CA382135417	1885	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs377174822 CA6206560	1885	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs201074147 CA382135399	1887	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1325956291 CA382135396	1888	S>C		No	ClinGen TOPMed gnomAD
rs1325956291 CA382135394	1888	S>F		No	ClinGen TOPMed gnomAD
CA6206558 rs201179027	1888	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382135391 rs1303941784	1889	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	1892	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1894	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1895	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1590928923 CA382135337	1897	Q>R		No	ClinGen Ensembl
CA6206556 rs764933459	1899	G>V		No	ClinGen ExAC gnomAD
CA382135308 rs1162753490	1901	M>I		No	ClinGen gnomAD
rs1256069255 CA382135312	1901	M>L		No	ClinGen TOPMed
TCGA novel	1903	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6206555 rs759382211	1904	R>I		No	ClinGen ExAC TOPMed gnomAD
rs370993371 CA6206552	1905	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs776771365 CA6206554	1905	M>L		No	ClinGen ExAC gnomAD
CA6206553 rs771142627	1905	M>T		No	ClinGen ExAC gnomAD
CA382135278 rs1206542988	1906	E>Q		No	ClinGen gnomAD
rs1201064079 CA382135260	1908	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6206550 rs189247153	1908	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1489754229 CA382135254	1909	Q>*		No	ClinGen gnomAD
rs1290042781 CA382135252	1909	Q>R		No	ClinGen gnomAD
rs577072159 CA6206549	1910	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1275666406 CA382135238	1911	G>V		No	ClinGen gnomAD
rs1398298634 CA382135235	1912	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs369792880 CA6206545 COSM1259879 COSM1259880	1912	R>H	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA382135220 rs1337733312	1914	T>I		No	ClinGen TOPMed
CA382135193 rs1406976860	1918	F>L		No	ClinGen gnomAD
rs756992151 CA6206544	1919	A>T		No	ClinGen ExAC TOPMed gnomAD
CA382135184 rs1302269001	1920	D>N		No	ClinGen gnomAD
TCGA novel	1924	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382135156 rs1356083405	1924	W>R		No	ClinGen gnomAD
rs1384135564 CA382135138	1926	Y>C		No	ClinGen TOPMed gnomAD
CA382135107 rs1409319409	1930	E>A		No	ClinGen gnomAD
rs769291719 CA6206529	1932	S>C		No	ClinGen ExAC TOPMed gnomAD
CA6206527 rs780543087	1933	M>I		No	ClinGen ExAC gnomAD
rs1034308446 CA224929830	1934	V>A		No	ClinGen Ensembl
CA6206525 RCV000895543 rs192931562	1937	L>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6206524 rs777536756	1938	H>R		No	ClinGen ExAC gnomAD
rs188162389 CA6206523	1939	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs188162389 CA224929826	1939	S>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1940	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1477177653 CA382134745	1941	R>K		No	ClinGen TOPMed gnomAD
TCGA novel	1941	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1943	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1944	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1263281254 CA382134677	1945	F>L		No	ClinGen gnomAD
CA382134645 rs752252798	1947	F>L		No	ClinGen ExAC TOPMed gnomAD
CA6206520 rs754933715	1948	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6206521 rs754933715	1948	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA6206519 rs753825411	1949	K>R		No	ClinGen ExAC gnomAD
CA6206517 rs760533280	1950	N>S		No	ClinGen ExAC gnomAD
rs76161186 CA224929805	1951	D>A		No	ClinGen gnomAD
CA382134589 rs1304093676	1951	D>E		No	ClinGen TOPMed
rs376797038 CA6206515	1952	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs140341040 COSM265320 CA6206514 COSM265321	1952	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1957	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6206513 rs774521396	1957	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1289001268 CA382134511	1958	M>T		No	ClinGen gnomAD
rs867406342 CA382134500	1959	P>A		No	ClinGen gnomAD
rs867406342 CA224929791	1959	P>S		No	ClinGen gnomAD
TCGA novel	1960	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6206511 COSM1628240 rs776203610 COSM1628241	1960	N>K	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs113698645 CA224929789	1960	N>S		No	ClinGen Ensembl
COSM1644853 CA6206509 COSM1644852 rs770269024	1961	V>M	salivary_gland [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1218392 CA6206507 rs201318281 COSM1218391	1962	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA6206505 rs539606746	1963	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372515689 CA6206506	1963	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA382134431 rs368479596	1964	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754525655 CA6206503	1967	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1216209583 CA382134373	1969	I>V		No	ClinGen gnomAD
rs146739182 CA6206502	1970	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA6206501 rs199958891	1970	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377317773 CA6206499	1973	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382134317 rs1295635848	1973	G>V		No	ClinGen gnomAD
CA382134307 rs1359279562	1974	Y>C		No	ClinGen gnomAD
CA382134286 rs767595997	1975	Y>*		No	ClinGen ExAC gnomAD
rs1225068050 CA382134275	1976	R>S		No	ClinGen TOPMed
CA382134255 rs762072594	1978	I>F		No	ClinGen ExAC gnomAD
CA6206496 rs531636279	1978	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs762072594 CA6206497	1978	I>V		No	ClinGen ExAC gnomAD
rs1165937840 CA382134239	1979	Y>C		No	ClinGen gnomAD
rs1270901205 CA382134223	1980	Q>R		No	ClinGen TOPMed
TCGA novel	1981	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6206494 rs371772071	1981	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1436628230 CA382134199	1982	P>S		No	ClinGen TOPMed
CA382134171 rs1194550346	1984	G>D		No	ClinGen gnomAD
CA382134168 rs1194550346	1984	G>V		No	ClinGen gnomAD
rs776078477 CA6206493	1986	A>P		No	ClinGen ExAC gnomAD
rs1193150250 CA382134141	1986	A>V		No	ClinGen gnomAD
CA382134129 rs1181137547	1987	S>L		No	ClinGen TOPMed
TCGA novel	1989	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770426559 CA6206492	1990	Q>R		No	ClinGen ExAC gnomAD
CA382134085 rs1419547508	1991	D>Y		No	ClinGen gnomAD
rs1169194499 CA382134069	1992	F>I		No	ClinGen gnomAD
TCGA novel	1993	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382134005 rs777073450	1996	G>A		No	ClinGen ExAC gnomAD
rs777073450 CA6206490	1996	G>E		No	ClinGen ExAC gnomAD
TCGA novel	1997	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6206489 rs771253274	2000	H>Y		No	ClinGen ExAC gnomAD
CA382133911 rs1180275995	2003	Y>C		No	ClinGen TOPMed
rs778605809 CA6206487	2005	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1165450326 CA382133875	2006	T>I		No	ClinGen TOPMed
CA224929699 rs947675854	2008	R>H		No	ClinGen TOPMed gnomAD
rs748812112 CA6206485	2012	Y>C		No	ClinGen ExAC gnomAD
rs1335777317 CA382133758	2015	G>V		No	ClinGen TOPMed
CA6206483 rs756108078	2016	K>E		No	ClinGen ExAC gnomAD
CA382133690 rs1463994321	2021	A>E		No	ClinGen gnomAD
CA382133673 rs1371389628	2022	E>D		No	ClinGen gnomAD
CA6206481 rs370572793	2023	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1234258802 CA382133654	2024	L>F		No	ClinGen TOPMed
rs1431779004 CA382133651	2024	L>H		No	ClinGen gnomAD
CA382133637 rs1275486193	2025	Y>F		No	ClinGen TOPMed
CA382133590 rs1337892501	2028	T>I		No	ClinGen TOPMed
rs368134001 CA6206479	2029	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	2031	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1250978476 CA382133517	2034	Y>C		No	ClinGen gnomAD
rs764423791 CA6206478	2034	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA224929646 rs1024122762	2035	D>G		No	ClinGen Ensembl
rs200508306 CA6206475	2036	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6206474 rs370873891	2037	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6206471 rs540437636	2041	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs370235815 CA6206470	2042	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1565324218 CA382133392	2044	I>V		No	ClinGen Ensembl
rs571774239 CA6206469	2045	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs571774239 CA382133373	2045	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382133324 rs1590927004	2048	N>K		No	ClinGen Ensembl
rs748759081 CA6206468	2048	N>S		No	ClinGen ExAC gnomAD
rs1397213173 CA382133322	2049	E>K		No	ClinGen TOPMed
CA6206467 rs775005150	2050	G>V		No	ClinGen ExAC gnomAD
CA6206466 rs769225940	2051	F>L		No	ClinGen ExAC TOPMed gnomAD
CA382133292 rs1590926985	2051	F>S		No	ClinGen Ensembl
CA382133281 rs745811359	2052	T>A		No	ClinGen ExAC gnomAD
CA6206465 rs745811359	2052	T>P		No	ClinGen ExAC gnomAD
rs745450056 CA224929584	2054	T>N		No	ClinGen Ensembl
rs781048464 CA6206464	2054	T>P		No	ClinGen ExAC gnomAD
rs1477830378 CA382133240	2055	I>V		No	ClinGen TOPMed gnomAD
COSM240958 CA6206463 rs757018454	2056	R>C	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs555192700 CA6206462	2056	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382133210 rs1417213892	2057	Y>F		No	ClinGen gnomAD
rs1237443982 CA382133201	2058	R>C		No	ClinGen TOPMed gnomAD
rs778097996 CA6206461	2058	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1271281244 CA382133189	2059	Q>L		No	ClinGen TOPMed
CA382133134 rs765332754	2063	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6206457 rs535411148	2066	R>G		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	2066	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376239024 CA6206456	2066	R>Q		No	ClinGen ESP ExAC TOPMed
rs1241683116 CA382133077	2067	Q>H		No	ClinGen gnomAD
rs766812511 CA6206455	2067	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1375171503 CA382133072	2068	I>V		No	ClinGen gnomAD
CA6206454 rs761034390	2070	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6206453 rs773597999	2070	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6206451 rs762572739	2071	F>I		No	ClinGen ExAC gnomAD
CA382133006 rs1192280731	2072	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6206449 rs769331668	2073	E>D		No	ClinGen ExAC gnomAD
CA6206450 rs775188994	2073	E>K		No	ClinGen ExAC gnomAD
CA6206448 rs758980878	2074	E>D		No	ClinGen ExAC gnomAD
rs946235703 CA224929519	2075	G>C		No	ClinGen TOPMed
rs759353141 CA6206446	2076	M>I		No	ClinGen ExAC TOPMed gnomAD
rs776563835 CA6206447	2076	M>V		No	ClinGen ExAC gnomAD
CA6206445 rs556415271	2077	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA6206443 rs772029249	2079	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1447189784 CA382132907	2080	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA224929492 rs935968915	2080	R>H		No	ClinGen TOPMed gnomAD
CA382132880 rs1203035878	2082	D>Y		No	ClinGen gnomAD
rs1389402885 CA382132845	2084	N>S		No	ClinGen gnomAD
CA6206442 rs748379930	2085	Y>C		No	ClinGen ExAC gnomAD
rs755031203 CA6206440	2089	F>L		No	ClinGen ExAC gnomAD
CA6206438 rs376915445	2090	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM246181 CA6206439 rs753869062 COSM246180	2090	R>W	pancreas prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6206437 rs756638304	2091	V>M		No	ClinGen ExAC gnomAD
rs1327135273 CA382132743	2092	T>I		No	ClinGen gnomAD
rs1565324004 CA382132722	2094	M>I		No	ClinGen Ensembl
rs750979713 CA382132726	2094	M>L		No	ClinGen ExAC TOPMed gnomAD
rs374147027 CA6206435	2094	M>R		No	ClinGen ESP ExAC gnomAD
CA6206436 rs750979713	2094	M>V		No	ClinGen ExAC TOPMed gnomAD
rs369727398 CA224929468	2096	A>S		No	ClinGen ESP
rs1359653018 CA382132688	2097	V>L		No	ClinGen gnomAD
rs752288267 CA6206433	2100	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2104	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382132585 rs1243347688	2105	I>T		No	ClinGen gnomAD
rs1056649372 CA224929464	2105	I>V		No	ClinGen TOPMed
CA6206431 rs547577508	2107	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA6206432 rs547577508	2107	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs770521921 CA6206429	2109	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6206428 rs760654898	2109	R>H		No	ClinGen ExAC gnomAD
CA6206427 rs773353010	2110	Y>S		No	ClinGen ExAC gnomAD
CA382132504 rs1228259831	2111	D>V		No	ClinGen gnomAD
TCGA novel	2127	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs367616110 CA6206423	2129	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs749341010 CA6206422	2130	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA382132181 rs1449872178	2134	I>V		No	ClinGen gnomAD
CA6206421 rs779977336	2135	T>I		No	ClinGen ExAC gnomAD
CA382132143 rs1590926691	2137	A>T		No	ClinGen Ensembl
rs750915110 CA6206419	2137	A>V		No	ClinGen ExAC TOPMed gnomAD
rs781672573 CA382132060	2142	T>A		No	ClinGen ExAC TOPMed gnomAD
rs781672573 CA6206418	2142	T>S		No	ClinGen ExAC TOPMed gnomAD
CA382132006 rs1454327458	2144	H>Y		No	ClinGen TOPMed
CA224929372 rs1047870015	2145	F>C		No	ClinGen TOPMed
TCGA novel	2146	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757551251 CA6206417	2147	A>T		No	ClinGen ExAC gnomAD
CA382131880 rs1361683579	2151	M>R		No	ClinGen TOPMed
rs751900588 CA6206416	2152	K>R		No	ClinGen ExAC
rs374996334 CA224929361	2154	V>L		No	ClinGen ESP
rs568544327 CA6206415	2155	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1158814835 CA382131774	2158	I>T		No	ClinGen TOPMed
CA224929348 rs190768766	2160	R>C		No	ClinGen 1000Genomes gnomAD
COSM932340 rs144957611 CA6206413 COSM932341	2160	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs371876037 CA6206411 COSM1722385 COSM1722386	2161	S>L	NS [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs767570583 CA382131718	2163	M>K		No	ClinGen ExAC TOPMed gnomAD
CA6206409 rs767570583	2163	M>T		No	ClinGen ExAC TOPMed gnomAD
CA224929322 rs1017258778	2164	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs200474747 CA382131642	2168	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200474747 COSM259068 COSM259069 CA6206406	2168	V>I	large_intestine Variant assessed as Somatic; 9.29e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1464613220 CA382131609	2170	Y>C		No	ClinGen gnomAD
rs775838053 CA6206404	2170	Y>H		No	ClinGen ExAC gnomAD
TCGA novel	2172	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769805550 CA6206403	2173	M>T		No	ClinGen ExAC gnomAD
rs1374672415 CA382131541	2174	G>E		No	ClinGen TOPMed gnomAD
COSM545394 rs745950858 COSM545395 CA382131529	2175	R>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6206402 COSM231257 rs745950858	2175	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs757780293 CA6206400	2176	V>I		No	ClinGen ExAC gnomAD
rs370622946 CA224929275	2177	V>A		No	ClinGen ESP TOPMed gnomAD
TCGA novel	2178	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368338653 CA6206398	2181	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs758860337 CA6206397	2183	V>I		No	ClinGen ExAC gnomAD
CA6206396 rs753423302	2184	G>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2186	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382131385 rs1224178847	2187	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	2189	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs956136808 CA224929249	2190	T>S		No	ClinGen TOPMed
rs532627479 CA382131347	2191	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6206392 rs532627479	2191	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	2192	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382131312 rs1338213623	2193	S>F		No	ClinGen gnomAD
CA382131238 rs1164723470	2198	A>T		No	ClinGen TOPMed
rs770034158 CA6206386	2200	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1590926459 CA382131192	2201	Q>H		No	ClinGen Ensembl
rs1296983524 CA382131170	2205	V>I		No	ClinGen TOPMed
rs1439681125 CA382131154	2207	I>N		No	ClinGen gnomAD
rs747463954 CA6206382	2208	N>K		No	ClinGen ExAC gnomAD
CA6206384 rs776666864	2208	N>S		No	ClinGen ExAC gnomAD
rs748552443 CA6206378	2209	D>E		No	ClinGen ExAC gnomAD
CA6206380 rs758633961	2209	D>G		No	ClinGen ExAC gnomAD
rs778400025 CA6206381	2209	D>N		No	ClinGen ExAC TOPMed gnomAD
CA224929193 rs778400025	2209	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA6206377 rs199514320	2212	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs755853085 CA6206376	2212	L>H		No	ClinGen ExAC TOPMed gnomAD
CA6206375 rs750150227	2214	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6206374 rs767106649	2214	R>H		No	ClinGen ExAC TOPMed gnomAD
CA382131091 rs1377844307	2217	Y>C		No	ClinGen gnomAD
rs1393746128 CA382131094	2217	Y>H		No	ClinGen gnomAD
COSM1218370 COSM1218369 CA6206371 rs764096276	2218	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA382131078 rs1362829379	2219	L>F		No	ClinGen gnomAD
rs1044401698 CA224929156	2220	N>S		No	ClinGen TOPMed gnomAD
rs1479986304 CA382131064	2221	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1167555188 CA382131067	2221	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA382131034 rs1187316348	2226	L>M		No	ClinGen gnomAD
rs917132331 CA224929141	2227	S>R		No	ClinGen Ensembl
CA6206367 rs377556160	2228	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA382131012 rs1215685782	2229	G>E		No	ClinGen gnomAD
rs1242527390 CA382131006 CA382131005	2230	N>K		No	ClinGen gnomAD
rs372549247 CA6206365	2230	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA382131001 rs1425941443	2231	S>T		No	ClinGen TOPMed
rs561808396 CA6206364	2233	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA224929123 rs950531192	2233	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA382130974 rs772669808	2236	P>A		No	ClinGen ExAC TOPMed gnomAD
CA6206362 rs772669808	2236	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6206359 rs769183456	2238	R>Q		No	ClinGen ExAC gnomAD
COSM1218364 rs779398356 COSM1218363 CA6206360	2238	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs745513028 CA6206358	2239	Y>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs865922915 CA224929100	2242	R>C		No	ClinGen TOPMed gnomAD
CA6206356 COSM1357224 COSM1357225 rs756653480	2242	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA382130936 rs1478910963	2243	D>N		No	ClinGen TOPMed gnomAD
rs777521844 CA6206354	2244	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6206355 rs777521844	2244	R>G		No	ClinGen ExAC gnomAD
CA382130927 rs1193250974	2244	R>H		No	ClinGen TOPMed gnomAD
rs370470074 CA224929074	2247	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370470074 CA6206352	2247	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs758333727 CA6206353	2247	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs186319631 CA6206350	2249	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	2250	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs555843468 CA382130890	2251	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555843468 CA6206348 COSM87442	2251	V>M	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA6206347 rs760634695	2252	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1277136171 CA382130882	2252	Q>P		No	ClinGen TOPMed gnomAD
rs1277136171 CA382130883	2252	Q>R		No	ClinGen TOPMed gnomAD
rs1010508624 CA224929033	2253	Y>F		No	ClinGen Ensembl
CA382130878 rs1223763693	2253	Y>H		No	ClinGen gnomAD
CA6206346 rs773368159	2254	K>E		No	ClinGen ExAC gnomAD
CA6206345 rs772097398	2254	K>N		No	ClinGen ExAC TOPMed gnomAD
CA382130870 rs1303951955	2254	K>T		No	ClinGen gnomAD
rs200325719 CA6206344	2255	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1467210008 CA382130845	2257	E>V		No	ClinGen gnomAD
CA382130813 rs1170172424	2262	R>K		No	ClinGen gnomAD
rs1039733613 CA224929027	2264	R>W		No	ClinGen TOPMed gnomAD
TCGA novel	2265	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373812159 CA224929008	2266	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs373812159 COSM196719 CA6206342	2266	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs780667870 CA6206340	2268	I>T		No	ClinGen ExAC TOPMed gnomAD
CA6206341 rs749673647	2268	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA382130765 rs1256931101	2270	E>K		No	ClinGen gnomAD
rs1044883537 CA224928983	2278	I>F		No	ClinGen gnomAD
rs1449930684 CA382130612	2279	K>R		No	ClinGen TOPMed
CA6206334 rs778832577 COSM932337 COSM932336	2283	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs201369626 CA6206335	2283	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1374749843 CA382130516	2284	A>G		No	ClinGen gnomAD
CA6206333 rs754703622	2285	G>S		No	ClinGen ExAC TOPMed gnomAD
rs766466346 CA6206331	2288	S>N		No	ClinGen ExAC gnomAD
rs1346694651 CA382130429	2289	V>I		No	ClinGen gnomAD
CA6206330 rs756340982	2291	Y>D		No	ClinGen ExAC gnomAD
rs750652207 CA6206329	2292	R>C		No	ClinGen ExAC TOPMed gnomAD
rs543741690 CA6206328	2292	R>H		No	ClinGen ExAC TOPMed gnomAD
rs774943359 CA6206326	2294	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs764728212 CA6206325	2295	G>R		No	ClinGen ExAC gnomAD
rs369423440 CA224928936	2298	R>Q		No	ClinGen ESP TOPMed
COSM932334 CA6206324 COSM932335 rs763360287	2298	R>W	liver large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1253592523 CA382130254	2299	R>C		No	ClinGen TOPMed gnomAD
TCGA novel	2299	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382130235 rs375613256	2300	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1357222 CA6206322 COSM1357223 rs375613256	2300	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA6206321 rs373818555	2301	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA382130194 rs772793737	2304	S>N		No	ClinGen ExAC TOPMed
rs772793737 CA6206320	2304	S>T		No	ClinGen ExAC TOPMed
CA382130183 rs1352206651	2305	S>R		No	ClinGen gnomAD
CA382130179 rs771510269	2306	H>P		No	ClinGen ExAC TOPMed gnomAD
CA6206319 rs771510269	2306	H>R		No	ClinGen ExAC TOPMed gnomAD
rs747659423 CA6206317	2309	H>L		No	ClinGen ExAC gnomAD
TCGA novel	2310	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382130132 rs778785352	2312	F>L		No	ClinGen ExAC gnomAD
CA382130113 rs1160276183	2315	A>T		No	ClinGen gnomAD
CA224928899 rs770506363	2318	T>S		No	ClinGen Ensembl
CA382130076 rs1368774392	2321	T>A		No	ClinGen TOPMed
CA6206315 rs754933671	2322	K>R		No	ClinGen ExAC gnomAD
CA382130060 rs1590925940	2323	V>A		No	ClinGen Ensembl
TCGA novel	2324	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382130058 rs1590925937	2324	T>P		No	ClinGen Ensembl
CA6206312 rs755929903	2330	S>F		No	ClinGen ExAC gnomAD
rs1264312973 CA382129998	2332	S>C		No	ClinGen gnomAD
rs767649128 CA6206310	2334	I>V		No	ClinGen ExAC TOPMed gnomAD
CA382129976 rs1487526152	2336	S>T		No	ClinGen gnomAD
rs1229398455 CA382129946	2340	D>N		No	ClinGen gnomAD
rs1358488666 CA382129933	2342	Q>E		No	ClinGen gnomAD
CA6206308 rs751710519	2343	G>E		No	ClinGen ExAC TOPMed gnomAD
CA382129918 rs1244294719	2344	H>Y		No	ClinGen gnomAD
rs1486327665 CA382129891	2348	M>V		No	ClinGen gnomAD
TCGA novel	2349	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA224928867 rs929211805	2351	S>N		No	ClinGen Ensembl
rs1476476500 CA382129817	2358	I>V		No	ClinGen Ensembl
rs1208511218 CA382129800	2359	A>G		No	ClinGen gnomAD
rs1461256718 CA382129744	2363	I>V		No	ClinGen gnomAD
COSM3398156 COSM3398155 rs759828629 CA6206303	2364	G>R	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	2365	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1410993952 CA382129685	2368	A>S		No	ClinGen gnomAD
TCGA novel	2368	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382129669 rs1475526094	2369	V>A		No	ClinGen gnomAD
CA6206301 rs199956990	2369	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1176770055 CA382129630	2372	G>E		No	ClinGen TOPMed
rs1225894670 CA382129619	2373	T>I		No	ClinGen TOPMed gnomAD
rs1225894670 CA382129623	2373	T>K		No	ClinGen TOPMed gnomAD
TCGA novel	2373	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382129548 rs1477008236	2378	K>R		No	ClinGen gnomAD
rs768199920 CA6206298	2379	Q>K		No	ClinGen ExAC gnomAD
CA224928818 rs890733810	2380	I>M		No	ClinGen TOPMed gnomAD
rs183461078 CA6206297	2381	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1214775325 CA382129495	2382	Y>C		No	ClinGen gnomAD
CA382129482 rs1318729268	2383	T>A		No	ClinGen gnomAD
rs1341888668 CA382129477	2383	T>I		No	ClinGen Ensembl
rs1300862429 CA382129474	2384	A>P		No	ClinGen TOPMed gnomAD
rs1280260156 CA382129467	2384	A>V		No	ClinGen gnomAD
CA6206295 rs755882779 CA382129390	2390	M>I		No	ClinGen ExAC TOPMed gnomAD
CA382129402 rs1338544510	2390	M>V		No	ClinGen TOPMed gnomAD
CA382129336 rs1438488873	2394	P>H		No	ClinGen gnomAD
TCGA novel	2397	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1465654923 CA382129259	2399	I>M		No	ClinGen gnomAD
CA224928779 rs1033684159	2399	I>V		No	ClinGen Ensembl
CA382129255 rs1401851543	2400	I>L		No	ClinGen TOPMed gnomAD
rs1210899482 CA382129251	2400	I>T		No	ClinGen TOPMed
rs1401851543 CA382129258	2400	I>V		No	ClinGen TOPMed gnomAD
rs1292653365 CA382129213	2403	H>R		No	ClinGen TOPMed
rs906042048 CA224928773	2408	D>A		No	ClinGen Ensembl
TCGA novel	2409	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1203991083 CA382129141	2409	P>S		No	ClinGen TOPMed
CA382129086 rs1192185918	2413	L>F		No	ClinGen gnomAD
CA6206291 rs751869725	2416	M>R		No	ClinGen ExAC gnomAD
CA382129047 rs1479220661	2416	M>V		No	ClinGen gnomAD
COSM3752762 rs201567760 CA6206289 COSM3752761	2418	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs200984022 CA6206290	2418	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1196975348 CA382129014	2419	R>G		No	ClinGen gnomAD
rs753186879 CA6206288	2419	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs372540311 CA6206287	2421	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA6206286 rs759903805	2423	V>M		No	ClinGen ExAC gnomAD
CA6206285 rs754178742	2425	A>S		No	ClinGen ExAC
rs368652809 CA6206283	2426	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM932333 rs774057206 COSM932332 CA6206282	2427	R>C	Variant assessed as Somatic; 0.0001393 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1464758410 CA382128909	2427	R>H		No	ClinGen TOPMed gnomAD
TCGA novel CA382128886 rs1359327025	2428	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
TCGA novel	2428	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768145085 CA6206281	2431	P>L		No	ClinGen ExAC gnomAD
CA382128842 rs1411223043	2432	D>Y		No	ClinGen TOPMed
CA6206278 rs201676053	2434	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6206276 rs370159104	2437	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000905418 rs199909021 CA6206275	2438	H>Y		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs747221055 CA6206274	2439	L>R		No	ClinGen ExAC gnomAD
rs1038029140 CA224928705	2442	S>G		No	ClinGen TOPMed gnomAD
CA6206272 rs199569704	2443	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779428528 CA6206269	2444	V>A		No	ClinGen ExAC gnomAD
rs779428528 CA382128668	2444	V>G		No	ClinGen ExAC gnomAD
COSM3383845 rs531273162 CA6206270 COSM3383844	2444	V>I	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs755418723 CA6206268	2445	M>I		No	ClinGen ExAC gnomAD
rs1445346561 CA382128655	2445	M>K		No	ClinGen gnomAD
rs1304159627 CA382128646	2446	P>A		No	ClinGen gnomAD
TCGA novel	2446	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	2453	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382128540 rs1441626873	2453	K>R		No	ClinGen TOPMed
CA382128539 rs1441626873	2453	K>T		No	ClinGen TOPMed
rs373129571 CA224928660	2458	I>L		No	ClinGen ESP TOPMed gnomAD
CA382128462 rs1382654221	2460	N>S		No	ClinGen TOPMed gnomAD
CA382128463 rs1382654221	2460	N>T		No	ClinGen TOPMed gnomAD
rs1167908504 CA382128449	2462	Q>R		No	ClinGen TOPMed
CA6206265 rs766726011	2464	I>T		No	ClinGen ExAC gnomAD
rs761090860 CA6206264	2465	K>R		No	ClinGen ExAC TOPMed gnomAD
CA382128411 rs1308878528	2466	C>Y		No	ClinGen gnomAD
rs1414646546 CA382128390	2467	F>L		No	ClinGen gnomAD
CA382128378 rs1256512694	2468	M>I		No	ClinGen TOPMed gnomAD
rs751158811 CA6206263	2468	M>T		No	ClinGen ExAC gnomAD
rs1007731073 CA224928637	2468	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	2469	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382126999 rs750821001	2470	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1391144616 CA382127001	2470	D>G		No	ClinGen TOPMed
rs1218683396 CA382126997	2471	V>I		No	ClinGen gnomAD
TCGA novel	2473	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1333563340 CA382126872	2480	F>I		No	ClinGen gnomAD
rs757953192 CA6206243	2483	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA6206242 rs752457406	2484	N>S		No	ClinGen ExAC TOPMed gnomAD
rs538672500 CA6206241	2485	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1368856742 CA382126757	2486	I>T		No	ClinGen gnomAD
TCGA novel	2487	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1456397887 CA382126743	2487	P>S		No	ClinGen gnomAD
rs776642107 CA6206239	2488	G>D		No	ClinGen ExAC TOPMed gnomAD
rs766448601 CA6206238	2492	P>S		No	ClinGen ExAC gnomAD
CA382126633 rs1467437793	2493	D>E		No	ClinGen gnomAD
TCGA novel	2493	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760495327 CA6206237	2494	M>L		No	ClinGen ExAC gnomAD
CA382126537 rs1194945259	2498	E>V		No	ClinGen TOPMed
CA6206234 rs748314290	2502	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1467595863 CA382126504	2503	L>F		No	ClinGen gnomAD
rs749378766 CA6206231	2504	I>N		No	ClinGen ExAC gnomAD
CA6206232 rs768565409	2504	I>V		No	ClinGen ExAC TOPMed gnomAD
rs867519365 CA224926024	2505	H>Y		No	ClinGen Ensembl
rs780501532 CA6206230	2507	Q>H		No	ClinGen ExAC gnomAD
rs756638363 CA6206229	2508	M>V		No	ClinGen ExAC gnomAD
CA6206228 rs201311854	2510	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1166510141 CA382126451	2511	Q>P		No	ClinGen TOPMed
CA382126429 rs1385648703	2514	D>N		No	ClinGen gnomAD
rs1370326611 CA382126420	2515	N>D		No	ClinGen gnomAD
rs781402948 CA6206227	2515	N>K		No	ClinGen ExAC gnomAD
rs1449247844 CA382126411	2516	S>N		No	ClinGen gnomAD
CA6206226 rs757694233	2517	K>E		No	ClinGen ExAC gnomAD
TCGA novel	2518	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA224925396 rs199816257	2519	I>M		No	ClinGen ESP TOPMed
CA382125780 rs1467753716	2519	I>T		No	ClinGen TOPMed
CA6206203 rs747430578	2519	I>V		No	ClinGen ExAC gnomAD
COSM932329 rs778379264 COSM932328 CA6206202	2520	L>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA6206200 rs371420147	2521	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs779708255 CA6206199	2522	V>A		No	ClinGen ExAC gnomAD
rs755744059 CA6206198	2523	Q>H		No	ClinGen ExAC gnomAD
rs750269836 CA6206197	2524	C>Y		No	ClinGen ExAC gnomAD
rs200705126 CA6206195	2527	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382125585 rs1385047900	2529	Q>E		No	ClinGen TOPMed
rs763928282 CA6206193	2529	Q>H		No	ClinGen ExAC gnomAD
rs751396249 CA6206194	2529	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs996808793 CA224925381	2532	A>S		No	ClinGen TOPMed gnomAD
CA382125504 rs1473504952	2532	A>V		No	ClinGen TOPMed gnomAD
rs1328068135 CA382125408	2536	L>F		No	ClinGen TOPMed
CA6206190 rs769803689	2538	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6206191 rs376296325	2538	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs776864685 CA6206188	2540	D>A		No	ClinGen ExAC TOPMed gnomAD
CA224925369 rs771491025	2541	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA382125304 rs1210459235	2543	Y>C		No	ClinGen gnomAD
rs550177440 CA6206185	2544	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs748937811 CA382125283	2546	T>I		No	ClinGen ExAC gnomAD
CA6206183 rs748937811	2546	T>K		No	ClinGen ExAC gnomAD
rs1232960154 CA382125288	2546	T>P		No	ClinGen gnomAD
rs779865872 CA6206182	2547	I>V		No	ClinGen ExAC gnomAD
CA382125266 rs1428521849	2548	T>A		No	ClinGen gnomAD
CA382125263 rs1428521849	2548	T>P		No	ClinGen gnomAD
CA6206181 rs755619375	2549	S>N		No	ClinGen ExAC gnomAD
rs749983243 CA6206180	2551	Q>*		No	ClinGen ExAC gnomAD
CA382125194 rs780946140	2553	A>P		No	ClinGen ExAC gnomAD
CA6206179 rs780946140	2553	A>S		No	ClinGen ExAC gnomAD
rs780946140 CA224925357	2553	A>T		No	ClinGen ExAC gnomAD
CA6206178 rs757198808	2556	T>S		No	ClinGen ExAC TOPMed gnomAD
rs532521048 CA224925355	2558	K>M		No	ClinGen TOPMed gnomAD
rs1465880944 CA382125088	2561	S>P		No	ClinGen gnomAD
CA6206176 rs763860618	2562	S>N		No	ClinGen ExAC TOPMed gnomAD
CA224925348 rs199594129	2563	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6206174 rs199594129	2563	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765473636 CA6206173	2564	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1453387930 CA382125025	2566	F>L		No	ClinGen gnomAD
CA382125023 rs1366505536	2566	F>S		No	ClinGen gnomAD
CA6206171 rs776748223	2567	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6206170 rs770955010	2567	G>V		No	ClinGen ExAC gnomAD
rs761241041 CA6206169	2568	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1260257366 CA382124982	2569	G>A		No	ClinGen gnomAD
TCGA novel	2570	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6206168 rs773915403	2571	K>R		No	ClinGen ExAC gnomAD
rs1275314829 CA382124946	2572	F>C		No	ClinGen gnomAD
CA6206167 rs368515496	2572	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368515496 CA6206166	2572	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	2573	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382124939 rs1309572886	2573	A>T		No	ClinGen TOPMed
CA382124932 rs1320239656	2573	A>V		No	ClinGen TOPMed
rs1015394925 CA224925333	2575	K>R		No	ClinGen Ensembl
rs1565317595 CA382124888	2576	D>E		No	ClinGen Ensembl
CA6206165 rs61745704 RCV000969266	2577	G>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1565317588 CA382124881	2577	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA382124873 rs1368149051	2578	R>*		No	ClinGen TOPMed gnomAD
CA382124874 rs1368149051	2578	R>G		No	ClinGen TOPMed gnomAD
CA382124868 rs769596800	2578	R>L		No	ClinGen ExAC TOPMed gnomAD
rs769596800 CA6206164	2578	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1316239390 CA382124849	2580	T>N		No	ClinGen Ensembl
CA382124813 rs1167921603	2585	S>I		No	ClinGen TOPMed gnomAD
CA382124815 rs1167921603	2585	S>N		No	ClinGen TOPMed gnomAD
rs1408508793 CA382124799	2587	A>S		No	ClinGen gnomAD
CA224925326 rs917022901	2588	N>H		No	ClinGen TOPMed
CA6206161 rs188600631	2588	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs188600631 CA6206162	2588	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382124751 rs1368974998	2590	D>G		No	ClinGen TOPMed
CA382124754 rs1368974998	2590	D>V		No	ClinGen TOPMed
CA6206159 rs367596461	2592	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs752510832 CA6206157	2593	R>T		No	ClinGen ExAC gnomAD
rs754072715 CA6206154	2594	V>D		No	ClinGen ExAC gnomAD
CA6206155 rs374802257	2594	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs766469610 CA6206153	2595	A>T		No	ClinGen ExAC gnomAD
rs773788517 CA6206151	2597	I>T		No	ClinGen ExAC TOPMed gnomAD
rs760685813 CA6206152	2597	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2601	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768170165 CA6206150	2602	H>P		No	ClinGen ExAC TOPMed gnomAD
rs201429886 CA6206149	2605	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382124567 rs1378477704	2605	E>K		No	ClinGen gnomAD
CA382124547 rs202241833	2606	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs202241833 CA6206147	2606	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA224925304 rs868522083	2607	L>M		No	ClinGen TOPMed gnomAD
CA6206146 rs745533143	2608	H>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2608	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745533143 CA224925302	2608	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1028543720 CA224925300	2609	F>I		No	ClinGen TOPMed
rs1206725543 CA382124475	2611	I>T		No	ClinGen TOPMed
CA6206145 rs573376955	2613	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA6206144 rs75922333	2614	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs75922333 CA6206143	2614	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382124426 rs1175699698	2615	D>A		No	ClinGen gnomAD
CA382124432 rs1565317401	2615	D>Y		No	ClinGen Ensembl
rs1261121143 CA382124415	2616	T>S		No	ClinGen gnomAD
CA382124347 rs1237820310	2621	K>E		No	ClinGen gnomAD
CA6206142 rs200925721	2621	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1446345612 CA382124266	2624	P>L		No	ClinGen TOPMed
CA224925289 rs752165239	2624	P>T		No	ClinGen TOPMed gnomAD
CA382124255 rs1166584052	2625	S>A		No	ClinGen TOPMed
rs1279439028 CA382124245	2625	S>L		No	ClinGen gnomAD
CA382124204 rs1355219374	2627	G>S		No	ClinGen TOPMed gnomAD
CA6206140 rs752195445	2630	A>D		No	ClinGen ExAC TOPMed gnomAD
rs778673217 CA224925283	2631	I>M		No	ClinGen ExAC gnomAD
CA6206138 COSM932320 rs754788136 COSM932321	2632	L>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1416933792 CA382124061	2633	G>A		No	ClinGen TOPMed gnomAD
rs754035363 CA6206137	2633	G>C		No	ClinGen ExAC gnomAD
rs1416933792 CA382124063	2633	G>D		No	ClinGen TOPMed gnomAD
rs1416933792 CA382124058	2633	G>V		No	ClinGen TOPMed gnomAD
CA6206135 rs756179453	2636	G>A		No	ClinGen ExAC gnomAD
CA224925276 rs756179453	2636	G>V		No	ClinGen ExAC gnomAD
CA6206136 rs766514094	2636	G>W		No	ClinGen ExAC gnomAD
rs915433286 CA224925271	2637	G>E		No	ClinGen Ensembl
CA6206132 RCV000969612 rs114100394	2638	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6206133 rs200437630	2638	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs775067963 CA6206131	2639	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA382123890 rs1297430914	2643	N>D		No	ClinGen TOPMed
rs764458923 CA6206130	2643	N>T		No	ClinGen ExAC TOPMed gnomAD
rs776302209 CA6206129	2644	G>R		No	ClinGen ExAC TOPMed gnomAD
rs776302209 CA6206128	2644	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
RCV000969611 CA6206127 rs76975254	2645	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6206125 COSM163065 rs184305763	2647	V>I	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA382123701 rs1321794105	2650	S>T		No	ClinGen gnomAD
CA6206122 rs778730877	2652	I>M		No	ClinGen ExAC gnomAD
rs1565317261 CA382123643	2653	N>T		No	ClinGen Ensembl
rs1353952390 CA382123620	2654	T>K		No	ClinGen gnomAD
CA6206121 rs768434000	2655	V>I		No	ClinGen ExAC gnomAD
CA6206119 rs759431347	2658	G>A		No	ClinGen ExAC TOPMed gnomAD
CA224925232 rs759431347	2658	G>D		No	ClinGen ExAC TOPMed gnomAD
rs749070096 CA6206120	2658	G>S		No	ClinGen ExAC gnomAD
CA382123562 rs759431347	2658	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1004027885 CA224925227	2659	R>G		No	ClinGen gnomAD
TCGA novel	2659	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6206117 rs750718475	2660	T>A		No	ClinGen ExAC gnomAD
CA382123510 rs1460106951	2662	R>C		No	ClinGen TOPMed gnomAD
CA6206116 rs369788944	2662	R>H	Variant assessed as Somatic; 9.288e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	2662	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6206115 rs757473649	2663	Y>C		No	ClinGen ExAC gnomAD
rs752043294 CA6206114	2665	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA382123443 rs879153818	2666	I>L		No	ClinGen TOPMed gnomAD
CA6206112 rs763324594	2666	I>M		No	ClinGen ExAC gnomAD
rs879153818 CA224925220	2666	I>V		No	ClinGen TOPMed gnomAD
CA224925217 rs758741960	2667	Q>H		No	ClinGen Ensembl
CA6206111 RCV000968228 rs78572681	2667	Q>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs772906103 CA6206108	2671	G>E		No	ClinGen ExAC
CA6206109 rs114114492 RCV000881566	2671	G>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs771514418 CA6206107	2673	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA6206106 rs761318240	2677	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6206105 rs774305028	2678	R>C		No	ClinGen ExAC TOPMed gnomAD
CA224925208 rs984294601	2678	R>H		No	ClinGen TOPMed gnomAD
CA382123215 rs1393965750	2680	G>E		No	ClinGen gnomAD
CA382123221 CA6206104 rs768500242	2680	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
rs375148621 CA6206103	2682	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1265157165 CA382123190	2682	T>M		No	ClinGen TOPMed
CA382123180 rs769781599	2683	L>M		No	ClinGen ExAC TOPMed gnomAD
CA6206100 rs746077495	2684	D>G		No	ClinGen ExAC gnomAD
CA382123084 rs1267342382	2688	A>T		No	ClinGen TOPMed
rs757369572 CA6206098	2689	R>Q		No	ClinGen ExAC gnomAD
CA6206099 rs200759241	2689	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs377107284 CA6206097	2690	V>I		No	ClinGen ESP ExAC gnomAD
CA6206096 rs777954652	2694	A>D		No	ClinGen ExAC TOPMed gnomAD
CA382123006 rs1481818048	2694	A>T		No	ClinGen gnomAD
CA382122995 rs777954652	2694	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1349164696 CA382122985	2695	R>Q		No	ClinGen gnomAD
rs758799184 CA6206095	2695	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6206094 rs753311762	2696	Q>R		No	ClinGen ExAC gnomAD
rs190084027 CA6206093	2697	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6206092 rs190084027	2697	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6206090 rs766212604	2698	A>V		No	ClinGen ExAC TOPMed gnomAD
rs533363061 CA382122306	2699	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs533363061 CA6206088	2699	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA6206087 rs763702880	2700	R>C		No	ClinGen ExAC gnomAD
CA6206086 rs762798194	2700	R>H		No	ClinGen ExAC gnomAD
rs775560022 CA6206085	2702	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs570712669 CA224925175	2705	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
rs377301519 CA6206083	2705	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1416984284 CA382122180	2706	E>D		No	ClinGen gnomAD
CA382122197 rs1348853705	2706	E>K		No	ClinGen TOPMed
CA224925169 rs908570140	2707	Q>L		No	ClinGen TOPMed
rs1565317013 CA382122156	2708	Q>R		No	ClinGen Ensembl
COSM932316 CA6206079 rs148029717 COSM932317	2711	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs747291762 CA6206080	2711	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA382122129 rs1206679324	2713	G>R		No	ClinGen TOPMed
CA382122124 rs1287574525	2713	G>V		No	ClinGen TOPMed
CA382122104 rs1486204118	2716	G>V		No	ClinGen gnomAD
CA6206075 rs373894701	2718	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs779399051 CA6206076	2718	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1334157685 CA382122074	2721	T>I		No	ClinGen gnomAD
rs754226607 CA6206074	2721	T>S		No	ClinGen ExAC gnomAD
rs766780922 CA6206073	2722	E>D		No	ClinGen ExAC gnomAD
CA6206071 rs751296058 CA6206072	2723	G>R		No	ClinGen ExAC TOPMed gnomAD
rs751296058 CA382122066	2723	G>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2724	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763503091 CA6206070	2726	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs549600898 CA6206069	2727	Q>H		No	ClinGen ExAC gnomAD
CA382122028 rs1434101286	2728	V>A		No	ClinGen gnomAD
rs1434101286 CA382122027	2728	V>G		No	ClinGen gnomAD
CA6206068 rs562430110	2729	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA224925152 rs754237893	2730	S>I		No	ClinGen ExAC TOPMed gnomAD
CA6206067 rs754237893	2730	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1451029987 CA382122014	2731	T>A		No	ClinGen TOPMed gnomAD
CA382122006 rs1270930724	2732	G>E		No	ClinGen gnomAD
rs759593391 CA6206066	2732	G>R		No	ClinGen ExAC gnomAD
TCGA novel	2732	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs185503085 CA6206064	2733	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000981536 CA6206063 rs185503085	2733	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs776533434 CA6206065	2733	R>W		No	ClinGen ExAC TOPMed gnomAD
CA382121998 rs1590916407	2734	V>G		No	ClinGen Ensembl
CA382121996 rs527857070	2735	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs527857070 CA6206062	2735	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA224925141 rs944321831	2736	G>S		No	ClinGen TOPMed
rs748290796 CA6206060	2738	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6206057 rs749835816	2739	G>A		No	ClinGen ExAC gnomAD
rs370869672 CA382121969	2739	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6206058 rs370869672	2739	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs371501350 COSM1357215 CA6206056 COSM1357214	2742	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA6206055 rs756561721	2743	I>T		No	ClinGen ExAC TOPMed gnomAD
CA382121934 rs1414072102	2744	S>F		No	ClinGen gnomAD
CA6206053 rs777489674	2745	V>I		No	ClinGen ExAC gnomAD
CA224925130 rs938188545	2746	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1383683856 CA382121904	2749	P>T		No	ClinGen TOPMed gnomAD
rs1061858 CA224925126	2752	S>*		No	ClinGen Ensembl
rs377035207 CA6206048	2755	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6206046 rs760523164	2756	N>S		No	ClinGen ExAC gnomAD
rs372769324 CA6206045	2758	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs372769324 CA6206044	2758	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	2759	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	2760	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM690546 CA6206043 COSM690545 rs369408263	2761	M>I	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA6206042 rs774384379	2763	Q>H		No	ClinGen ExAC gnomAD
rs376914004 CA6206040	2765	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA382121787 rs1339842469	2766	M>L		No	ClinGen TOPMed gnomAD
CA382121785 rs1339842469	2766	M>V		No	ClinGen TOPMed gnomAD
CA224925109 rs780556556	2768	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6206038 COSM932311 rs374118156 COSM932310	2768	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs780556556 CA6206039	2768	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	2769	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

1 associated diseases with Q6N022

[MIM: 616736]: Tremor, hereditary essential 5 (ETM5)

A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles may also be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant. {ECO:0000269|PubMed:26188006}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles may also be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant. {ECO:0000269|PubMed:26188006}. Note=The disease is caused by variants affecting the gene represented in this entry.

6 regional properties for Q6N022

Type	Name	Position	InterPro Accession
domain	Helix-hairpin-helix DNA-binding motif, class 1	2 - 21	IPR003583-1
domain	Helix-hairpin-helix DNA-binding motif, class 1	35 - 54	IPR003583-2
domain	AAA+ ATPase domain	96 - 281	IPR003593
domain	DNA recombination and repair protein Rad51-like, C-terminal	62 - 311	IPR013632
domain	DNA recombination and repair protein RecA, monomer-monomer interface	252 - 311	IPR020587
domain	DNA recombination and repair protein RecA-like, ATP-binding domain	75 - 247	IPR020588

Functions

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

5 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name	Definition
cell adhesion molecule binding	Binding to a cell adhesion molecule.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
protein homodimerization activity	Binding to an identical protein to form a homodimer.

11 GO annotations of biological process

Name	Definition
cardiac cell fate specification	The process involved in the specification of cardiac cell identity. Once specification has taken place, a cell will be committed to differentiate down a specific pathway if left in its normal environment.
cardiac muscle cell proliferation	The expansion of a cardiac muscle cell population by cell division.
central nervous system myelin formation	The process in which the wraps of cell membrane that constitute myelin are laid down around an axon by an oligodendrocyte in the central nervous system.
gastrulation with mouth forming second	A gastrulation process in which the initial invagination becomes the anus and the mouth forms second.
heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	The attachment of an adhesion molecule in one cell to a nonidentical adhesion molecule in an adjacent cell.
neuron development	The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell.
positive regulation of gastrulation	Any process that activates or increases the frequency, rate or extent of gastrulation.
positive regulation of myelination	Any process that activates or increases the frequency, rate or extent of the formation of a myelin sheath around nerve axons.
positive regulation of oligodendrocyte differentiation	Any process that activates or increases the frequency, rate or extent of oligodendrocyte differentiation.
regulation of myelination	Any process that modulates the frequency, rate or extent of the formation of a myelin sheath around nerve axons.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MDVKERKPYR	SLTRRRDAER	RYTSSSADSE	EGKAPQKSYS	SSETLKAYDQ	DARLAYGSRV
70	80	90	100	110	120
KDIVPQEAEE	FCRTGANFTL	RELGLEEVTP	PHGTLYRTDI	GLPHCGYSMG	AGSDADMEAD
130	140	150	160	170	180
TVLSPEHPVR	LWGRSTRSGR	SSCLSSRANS	NLTLTDTEHE	NTETDHPGGL	QNHARLRTPP
190	200	210	220	230	240
PPLSHAHTPN	QHHAASINSL	NRGNFTPRSN	PSPAPTDHSL	SGEPPAGGAQ	EPAHAQENWL
250	260	270	280	290	300
LNSNIPLETR	NLGKQPFLGT	LQDNLIEMDI	LGASRHDGAY	SDGHFLFKPG	GTSPLFCTTS
310	320	330	340	350	360
PGYPLTSSTV	YSPPPRPLPR	STFARPAFNL	KKPSKYCNWK	CAALSAIVIS	ATLVILLAYF
370	380	390	400	410	420
VAMHLFGLNW	HLQPMEGQMY	EITEDTASSW	PVPTDVSLYP	SGGTGLETPD	RKGKGTTEGK
430	440	450	460	470	480
PSSFFPEDSF	IDSGEIDVGR	RASQKIPPGT	FWRSQVFIDH	PVHLKFNVSL	GKAALVGIYG
490	500	510	520	530	540
RKGLPPSHTQ	FDFVELLDGR	RLLTQEARSL	EGTPRQSRGT	VPPSSHETGF	IQYLDSGIWH
550	560	570	580	590	600
LAFYNDGKES	EVVSFLTTAI	ESVDNCPSNC	YGNGDCISGT	CHCFLGFLGP	DCGRASCPVL
610	620	630	640	650	660
CSGNGQYMKG	RCLCHSGWKG	AECDVPTNQC	IDVACSNHGT	CITGTCICNP	GYKGESCEEV
670	680	690	700	710	720
DCMDPTCSGR	GVCVRGECHC	SVGWGGTNCE	TPRATCLDQC	SGHGTFLPDT	GLCSCDPSWT
730	740	750	760	770	780
GHDCSIEICA	ADCGGHGVCV	GGTCRCEDGW	MGAACDQRAC	HPRCAEHGTC	RDGKCECSPG
790	800	810	820	830	840
WNGEHCTIAH	YLDRVVKEGC	PGLCNGNGRC	TLDLNGWHCV	CQLGWRGAGC	DTSMETACGD
850	860	870	880	890	900
SKDNDGDGLV	DCMDPDCCLQ	PLCHINPLCL	GSPNPLDIIQ	ETQVPVSQQN	LHSFYDRIKF
910	920	930	940	950	960
LVGRDSTHII	PGENPFDGGH	ACVIRGQVMT	SDGTPLVGVN	ISFVNNPLFG	YTISRQDGSF
970	980	990	1000	1010	1020
DLVTNGGISI	ILRFERAPFI	TQEHTLWLPW	DRFFVMETII	MRHEENEIPS	CDLSNFARPN
1030	1040	1050	1060	1070	1080
PVVSPSPLTS	FASSCAEKGP	IVPEIQALQE	EISISGCKMR	LSYLSSRTPG	YKSVLRISLT
1090	1100	1110	1120	1130	1140
HPTIPFNLMK	VHLMVAVEGR	LFRKWFAAAP	DLSYYFIWDK	TDVYNQKVFG	LSEAFVSVGY
1150	1160	1170	1180	1190	1200
EYESCPDLIL	WEKRTTVLQG	YEIDASKLGG	WSLDKHHALN	IQSGILHKGN	GENQFVSQQP
1210	1220	1230	1240	1250	1260
PVIGSIMGNG	RRRSISCPSC	NGLADGNKLL	APVALTCGSD	GSLYVGDFNY	IRRIFPSGNV
1270	1280	1290	1300	1310	1320
TNILELRNKD	FRHSHSPAHK	YYLATDPMSG	AVFLSDSNSR	RVFKIKSTVV	VKDLVKNSEV
1330	1340	1350	1360	1370	1380
VAGTGDQCLP	FDDTRCGDGG	KATEATLTNP	RGITVDKFGL	IYFVDGTMIR	RIDQNGIIST
1390	1400	1410	1420	1430	1440
LLGSNDLTSA	RPLSCDSVMD	ISQVHLEWPT	DLAINPMDNS	LYVLDNNVVL	QISENHQVRI
1450	1460	1470	1480	1490	1500
VAGRPMHCQV	PGIDHFLLSK	VAIHATLESA	TALAVSHNGV	LYIAETDEKK	INRIRQVTTS
1510	1520	1530	1540	1550	1560
GEISLVAGAP	SGCDCKNDAN	CDCFSGDDGY	AKDAKLNTPS	SLAVCADGEL	YVADLGNIRI
1570	1580	1590	1600	1610	1620
RFIRKNKPFL	NTQNMYELSS	PIDQELYLFD	TTGKHLYTQS	LPTGDYLYNF	TYTGDGDITL
1630	1640	1650	1660	1670	1680
ITDNNGNMVN	VRRDSTGMPL	WLVVPDGQVY	WVTMGTNSAL	KSVTTQGHEL	AMMTYHGNSG
1690	1700	1710	1720	1730	1740
LLATKSNENG	WTTFYEYDSF	GRLTNVTFPT	GQVSSFRSDT	DSSVHVQVET	SSKDDVTITT
1750	1760	1770	1780	1790	1800
NLSASGAFYT	LLQDQVRNSY	YIGADGSLRL	LLANGMEVAL	QTEPHLLAGT	VNPTVGKRNV
1810	1820	1830	1840	1850	1860
TLPIDNGLNL	VEWRQRKEQA	RGQVTVFGRR	LRVHNRNLLS	LDFDRVTRTE	KIYDDHRKFT
1870	1880	1890	1900	1910	1920
LRILYDQAGR	PSLWSPSSRL	NGVNVTYSPG	GYIAGIQRGI	MSERMEYDQA	GRITSRIFAD
1930	1940	1950	1960	1970	1980
GKTWSYTYLE	KSMVLLLHSQ	RQYIFEFDKN	DRLSSVTMPN	VARQTLETIR	SVGYYRNIYQ
1990	2000	2010	2020	2030	2040
PPEGNASVIQ	DFTEDGHLLH	TFYLGTGRRV	IYKYGKLSKL	AETLYDTTKV	SFTYDETAGM
2050	2060	2070	2080	2090	2100
LKTINLQNEG	FTCTIRYRQI	GPLIDRQIFR	FTEEGMVNAR	FDYNYDNSFR	VTSMQAVINE
2110	2120	2130	2140	2150	2160
TPLPIDLYRY	DDVSGKTEQF	GKFGVIYYDI	NQIITTAVMT	HTKHFDAYGR	MKEVQYEIFR
2170	2180	2190	2200	2210	2220
SLMYWMTVQY	DNMGRVVKKE	LKVGPYANTT	RYSYEYDADG	QLQTVSINDK	PLWRYSYDLN
2230	2240	2250	2260	2270	2280
GNLHLLSPGN	SARLTPLRYD	IRDRITRLGD	VQYKMDEDGF	LRQRGGDIFE	YNSAGLLIKA
2290	2300	2310	2320	2330	2340
YNRAGSWSVR	YRYDGLGRRV	SSKSSHSHHL	QFFYADLTNP	TKVTHLYNHS	SSEITSLYYD
2350	2360	2370	2380	2390	2400
LQGHLFAMEL	SSGDEFYIAC	DNIGTPLAVF	SGTGLMIKQI	LYTAYGEIYM	DTNPNFQIII
2410	2420	2430	2440	2450	2460
GYHGGLYDPL	TKLVHMGRRD	YDVLAGRWTS	PDHELWKHLS	SSNVMPFNLY	MFKNNNPISN
2470	2480	2490	2500	2510	2520
SQDIKCFMTD	VNSWLLTFGF	QLHNVIPGYP	KPDMDAMEPS	YELIHTQMKT	QEWDNSKSIL
2530	2540	2550	2560	2570	2580
GVQCEVQKQL	KAFVTLERFD	QLYGSTITSC	QQAPKTKKFA	SSGSVFGKGV	KFALKDGRVT
2590	2600	2610	2620	2630	2640
TDIISVANED	GRRVAAILNH	AHYLENLHFT	IDGVDTHYFV	KPGPSEGDLA	ILGLSGGRRT
2650	2660	2670	2680	2690	2700
LENGVNVTVS	QINTVLNGRT	RRYTDIQLQY	GALCLNTRYG	TTLDEEKARV	LELARQRAVR
2710	2720	2730	2740	2750	2760
QAWAREQQRL	REGEEGLRAW	TEGEKQQVLS	TGRVQGYDGF	FVISVEQYPE	LSDSANNIHF

MRQSEMGRR