AiPD: Autoinhibited Protein Database

Q8TDI0

Gene name	CHD5
Protein name	Chromodomain-helicase-DNA-binding protein 5
Names	CHD-5, ATP-dependent helicase CHD5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26038
EC number	3.6.4.12: Acting on ATP; involved in cellular and subcellular movement
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

23-151 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

23-151 (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

2 structures for Q8TDI0

Entry ID	Method	Resolution	Chain	Position	Source
6GUU	X-ray	295 A	A/B	412-649	PDB
AF-Q8TDI0-F1	Predicted				AlphaFoldDB

1230 variants for Q8TDI0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_087312	193	R>Q	PMNDS [UniProt]	Yes	UniProt
rs1571164162 VAR_087313 CA338088782	193	R>W	PMNDS [UniProt]	Yes	ClinGen Ensembl UniProt
VAR_087314	272	A>V	PMNDS; unknown pathological significance [UniProt]	Yes	UniProt
VAR_087315	314	E>del	PMNDS [UniProt]	Yes	UniProt
VAR_087316	427	E>K	PMNDS [UniProt]	Yes	UniProt
VAR_087317	596	R>del	PMNDS [UniProt]	Yes	UniProt
VAR_087318	912	S>F	PMNDS [UniProt]	Yes	UniProt
rs760743983 VAR_087319 COSM168435 CA556537	1084	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine PMNDS [NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated ExAC NCI-TCGA gnomAD UniProt
TCGA novel VAR_087320	1124	P>L	Variant assessed as Somatic; impact. PMNDS [NCI-TCGA, UniProt]	Yes	NCI-TCGA UniProt
CA338076336 VAR_087321 rs1162494442	1136	R>H	Variant assessed as Somatic; 5.441e-05 impact. PMNDS [NCI-TCGA, UniProt]	Yes	ClinGen NCI-TCGA gnomAD UniProt
VAR_087322	1140	N>I	PMNDS [UniProt]	Yes	UniProt
CA17153029 VAR_087323 rs371488822	1419	I>M	PMNDS [UniProt]	Yes	ClinGen ESP ExAC TOPMed gnomAD UniProt
VAR_087324	1488	D>V	PMNDS [UniProt]	Yes	UniProt
CA555884 VAR_087325 rs781200968	1714	E>G	PMNDS [UniProt]	Yes	ClinGen ExAC gnomAD UniProt
RCV001262899 rs139581412 CA555861	1750	T>M	Neurodevelopmental disorder [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA17144248 rs943382091	4	P>L		No	ClinGen TOPMed
TCGA novel	5	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338062784 rs1333950052	8	E>G		No	ClinGen TOPMed
CA557467 rs777999082	9	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1336240806 CA338062776	9	E>V		No	ClinGen TOPMed gnomAD
CA338062769 rs1471540799	10	E>G		No	ClinGen TOPMed gnomAD
rs1329647020 CA338062764	11	L>V		No	ClinGen gnomAD
rs867830198 CA338062754	13	R>G		No	ClinGen TOPMed gnomAD
CA17144215 rs867830198	13	R>W		No	ClinGen TOPMed gnomAD
CA17144213 rs987514659	14	L>P		No	ClinGen TOPMed gnomAD
CA338062745 rs1425517471	15	F>L		No	ClinGen gnomAD
CA17144207 rs913710576	17	E>A		No	ClinGen TOPMed gnomAD
rs1364932230 CA338062718	18	E>D		No	ClinGen gnomAD
CA557466 rs758593833	19	M>T		No	ClinGen ExAC TOPMed gnomAD
CA338062707 rs1416866222	20	E>*		No	ClinGen gnomAD
rs1571179798 CA338062706	20	E>G		No	ClinGen Ensembl
CA338062695 rs1250408396	21	N>K		No	ClinGen TOPMed gnomAD
rs1222788379 CA338062689	22	E>G		No	ClinGen gnomAD
rs753808491 CA557465	23	D>N		No	ClinGen ExAC TOPMed gnomAD
CA338062678 rs1253301720	24	E>K		No	ClinGen TOPMed
rs1208966523 CA338062658	26	S>L		No	ClinGen TOPMed gnomAD
CA338061555 rs1418326777	27	E>A		No	ClinGen TOPMed
rs926389285 CA17137135	27	E>D		No	ClinGen Ensembl
CA557455 rs370334823	31	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	32	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1476270696 CA338061456	33	L>F		No	ClinGen TOPMed
CA557454 rs770335903	34	E>G		No	ClinGen ExAC gnomAD
CA338061411 rs377478068	35	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA557453 rs377478068	35	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338061417 rs1328306817	35	A>T		No	ClinGen gnomAD
rs146996909 CA557451	36	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs777038711 CA557452	36	F>S		No	ClinGen ExAC gnomAD
rs917617491 CA17137113	37	D>G		No	ClinGen TOPMed
CA338061383 rs778192266	37	D>H		No	ClinGen ExAC gnomAD
CA557449 rs778192266	37	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	38	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1436016933 COSM1686927 CA338061308	41	P>S	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA338061270 rs1381055945	43	E>G		No	ClinGen gnomAD
rs571052710 CA557447 RCV000914827	43	E>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs552385891 CA557446	44	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA17137098 COSM1343735 rs995346223	45	V>A	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
VAR_035475 COSM3361627 CA338061234 COSM32706 rs1470692239	45	V>M	kidney breast a breast cancer sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt dbSNP gnomAD
rs1171694675 CA338061205	46	S>R		No	ClinGen gnomAD
rs750388086 CA557444	48	P>R		No	ClinGen ExAC gnomAD
rs1301912021 CA338061179	49	K>E		No	ClinGen TOPMed
CA557443 rs781038373	50	K>E		No	ClinGen ExAC gnomAD
CA557442 rs757091559 CA338061152	50	K>N		No	ClinGen ExAC gnomAD
CA557441 rs751162737	51	K>E		No	ClinGen ExAC gnomAD
rs746370238 CA557440	51	K>R		No	ClinGen ExAC TOPMed gnomAD
CA557438 rs964095593	52	K>N		No	ClinGen TOPMed gnomAD
CA17137091 rs867679567	53	P>L		No	ClinGen Ensembl
rs762381552 CA557437	55	K>R		No	ClinGen ExAC gnomAD
rs1325830214 CA338060990	58	E>G		No	ClinGen gnomAD
rs752261233 CA557436	59	N>D		No	ClinGen ExAC gnomAD
rs764708277 CA557435	59	N>S		No	ClinGen ExAC gnomAD
CA17137086 rs975312459	61	C>Y		No	ClinGen TOPMed
CA17137082 rs373532903	64	K>R		No	ClinGen ESP TOPMed
rs771401780 CA557433	65	R>G		No	ClinGen ExAC TOPMed gnomAD
CA338060860 rs761147748	65	R>L		No	ClinGen ExAC TOPMed gnomAD
CA557431 rs761147748 COSM1560540	65	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs771401780 CA557432	65	R>W		No	ClinGen ExAC TOPMed gnomAD
CA557430 rs201480612	66	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	67	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs891114415 CA17137052	67	K>R		No	ClinGen Ensembl
CA338060818 rs1338036350	68	K>T		No	ClinGen gnomAD
CA557428 rs748119660	69	E>K		No	ClinGen ExAC gnomAD
rs1292996588	70	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1482810915 CA338091336	70	G>E		No	ClinGen gnomAD
CA557406 rs770868415	71	S>N		No	ClinGen ExAC gnomAD
rs1320265955 CA338091277	73	D>N		No	ClinGen gnomAD
TCGA novel	74	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	76	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1224815568 CA338091174	77	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1312719259 CA338091190	77	E>K		No	ClinGen gnomAD
CA338091103 rs1374897232	80	E>D		No	ClinGen gnomAD
rs1231112944 CA338091116	80	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA338091101 rs1285833856	81	D>N		No	ClinGen TOPMed gnomAD
CA17180975 rs996449819	82	L>P		No	ClinGen TOPMed gnomAD
CA17180971 rs868549386	84	E>*		No	ClinGen gnomAD
CA338091069 rs868549386	84	E>K		No	ClinGen gnomAD
CA557405 rs747002991	86	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1304561609 CA338091040	86	S>P		No	ClinGen gnomAD
CA17180961 rs901741189	88	S>N		No	ClinGen TOPMed
rs778454890 CA557401	95	P>L		No	ClinGen ExAC TOPMed gnomAD
CA557402 rs370460601	95	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs936580215 CA17180944 COSM3721238	97	K>R	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
CA557398 rs150931729	99	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA338090768 rs756677443	100	K>R		No	ClinGen ExAC TOPMed gnomAD
CA557397 rs756677443	100	K>T		No	ClinGen ExAC TOPMed gnomAD
CA17180933 rs991640795	103	L>P		No	ClinGen TOPMed gnomAD
rs1373588152 CA338090688	104	K>Q		No	ClinGen gnomAD
rs1323586565 CA338090638	105	D>G		No	ClinGen gnomAD
rs1284881155 CA338090629	106	K>E		No	ClinGen gnomAD
CA557393 rs762105742	107	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	108	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA557392 rs774590928	111	A>S		No	ClinGen ExAC gnomAD
CA17180918 rs184576673	113	R>*		No	ClinGen 1000Genomes TOPMed
CA338090419 rs184576673	113	R>G		No	ClinGen 1000Genomes TOPMed
CA557390 rs542999319	113	R>Q	Variant assessed as Somatic; 6.4e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1386302592 CA338090365	115	K>N		No	ClinGen gnomAD
rs937537501 CA17180907	115	K>R		No	ClinGen TOPMed
CA557389 rs575662511	117	D>H		No	ClinGen 1000Genomes ExAC
rs575662511 CA17180900	117	D>Y		No	ClinGen 1000Genomes ExAC
CA338090255 rs1158305877	119	D>E		No	ClinGen gnomAD
VAR_035476	119	D>N	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
TCGA novel	120	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769924450 CA557388	120	E>K		No	ClinGen ExAC gnomAD
CA338090208 rs1430060502	121	D>G		No	ClinGen gnomAD
CA17180889 rs907887218	123	N>S		No	ClinGen TOPMed
CA557386 rs746915354	124	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1165858294 CA338090032	129	K>T		No	ClinGen TOPMed gnomAD
CA17178959 rs1004932652	132	K>E		No	ClinGen Ensembl
rs1206177987 CA338089197	134	S>L		No	ClinGen TOPMed gnomAD
rs1353523965 CA338089184	136	Q>R		No	ClinGen TOPMed
rs1312174421 CA338089172	138	M>L		No	ClinGen TOPMed
rs765274899 CA557369	138	M>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	139	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338089161 rs1310465393	139	A>V		No	ClinGen gnomAD
CA557367 rs773096618	140	E>D		No	ClinGen ExAC gnomAD
COSM159977 rs1401581688 CA338089160	140	E>K	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA338089144 rs1049080646	142	G>C		No	ClinGen TOPMed gnomAD
CA338089142 rs1369097319	142	G>D		No	ClinGen gnomAD
rs1049080646 CA17178893	142	G>S		No	ClinGen TOPMed gnomAD
rs747840356 CA557364	145	D>N		No	ClinGen ExAC TOPMed gnomAD
CA557362 rs748919576	146	V>M		No	ClinGen ExAC gnomAD
rs779904423 CA557361	147	D>N		No	ClinGen ExAC gnomAD
CA557360 rs769387538	148	Y>C		No	ClinGen ExAC gnomAD
CA557357 rs150062924	151	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1339962381 CA338089060	154	D>E		No	ClinGen gnomAD
CA557355 rs117780546	157	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780191237 CA17178835	159	T>N		No	ClinGen Ensembl
CA338089014 rs1446132439	161	Y>F		No	ClinGen TOPMed
rs765477546 CA557352	162	K>N		No	ClinGen ExAC gnomAD
CA338089004 rs1284478278	163	A>T		No	ClinGen TOPMed
TCGA novel	166	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338088956 rs1162035103	169	R>M		No	ClinGen gnomAD
CA338088912 rs1273277772	174	K>R		No	ClinGen gnomAD
CA557327 rs764129653	176	N>S		No	ClinGen ExAC
CA557326 rs139233286	177	P>L		No	ClinGen ESP ExAC TOPMed
rs926957306 CA17178345	180	P>S		No	ClinGen gnomAD
rs557846811 CA17178343	181	M>V		No	ClinGen TOPMed
CA338088824 rs1571164175	186	T>N		No	ClinGen Ensembl
rs1387287471 CA338088818	187	V>G		No	ClinGen gnomAD
COSM1296625 CA17178341 rs866020323	187	V>I	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1308579765 CA338088797	191	K>R		No	ClinGen TOPMed
rs922574776 CA17178337	194	E>G		No	ClinGen Ensembl
rs1372526540 CA338088777	194	E>Q		No	ClinGen TOPMed
CA17178333 rs1039744677	195	F>V		No	ClinGen Ensembl
TCGA novel	196	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1232715298 CA338088760	196	S>T		No	ClinGen TOPMed gnomAD
rs146062488 CA557321	197	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA338088743 rs1171603389	199	N>H		No	ClinGen gnomAD
CA557320 rs746557410	199	N>K		No	ClinGen ExAC gnomAD
rs1391771216 CA338088727	201	F>L		No	ClinGen gnomAD
CA338088722 rs1186608392	201	F>L		No	ClinGen TOPMed gnomAD
rs1448723300 CA338088720	202	K>E		No	ClinGen gnomAD
rs149538663 CA557318	203	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs920435597 CA17178304	205	S>F		No	ClinGen Ensembl
rs779249848 CA557316	206	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1200082377 CA338088688	206	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs749449609 CA557314	207	A>V		No	ClinGen ExAC gnomAD
CA338088669 rs1226887215	208	A>V		No	ClinGen gnomAD
rs1365039028 CA338088660	209	A>V		No	ClinGen TOPMed gnomAD
CA338088652 rs1449629415	210	A>V		No	ClinGen gnomAD
CA338088643 rs1333162189	211	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA338088630 rs1372180404	212	A>V		No	ClinGen TOPMed gnomAD
CA557309 rs767762669	213	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs767762669 CA338088621	213	V>G		No	ClinGen ExAC TOPMed
rs758404905 CA557307	215	A>T		No	ClinGen ExAC gnomAD
rs1385833924 CA338088604	215	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	217	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA557304 rs759393769	218	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA557303 rs372515565	219	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA557300 rs772696978	223	S>A		No	ClinGen ExAC TOPMed gnomAD
rs772696978 CA17178260	223	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1322542634 CA338088513	224	P>A		No	ClinGen TOPMed gnomAD
rs1322542634 CA338088512	224	P>S		No	ClinGen TOPMed gnomAD
rs771637239 CA557299	225	P>L		No	ClinGen ExAC TOPMed gnomAD
CA338088502 rs1230512841	225	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA17178234 COSM3705957 rs1034284360	228	V>I	Variant assessed as Somatic; 4.729e-05 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs780078526 CA557294	230	P>H		No	ClinGen ExAC gnomAD
rs376898938 CA17178218	231	P>A		No	ClinGen ESP
CA557293 rs370035599 COSM535780	231	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs766709340	232	Q>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs781385165 CA557290	232	Q>H		No	ClinGen ExAC
CA338088396 rs1472944465	233	V>G		No	ClinGen TOPMed gnomAD
CA17178191 rs757461454	233	V>L		No	ClinGen ExAC TOPMed gnomAD
CA557289 rs757461454	233	V>M		No	ClinGen ExAC TOPMed gnomAD
CA557287 rs765294822	234	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1180278686 CA338088386	234	P>T		No	ClinGen gnomAD
CA557286 rs754661119	235	Q>R		No	ClinGen ExAC gnomAD
rs1320403703 CA338088357	237	V>M		No	ClinGen gnomAD
rs753681850 CA557285	239	I>L		No	ClinGen ExAC gnomAD
rs965603223 CA17178163	240	R>C		No	ClinGen TOPMed
CA557284 rs149780291	240	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA338088326 rs965603223	240	R>S		No	ClinGen TOPMed
CA557282 rs772891328	246	E>K		No	ClinGen ExAC gnomAD
rs1321689876 CA338088225	247	G>S		No	ClinGen TOPMed
rs1434246662 CA338088212	248	K>R		No	ClinGen gnomAD
TCGA novel	249	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	250	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA557263 rs201483063	258	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA557264 rs750032524	258	G>S		No	ClinGen ExAC gnomAD
CA17176777 rs201483063	258	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA557261 rs140726881	259	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA338087508 rs1390505261	261	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA338087498 rs1373605926	261	D>V		No	ClinGen TOPMed
rs763482119 CA557259	263	K>N		No	ClinGen ExAC gnomAD
COSM179392 CA557258 rs759139485	271	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1008928617 CA17176760	272	A>S		No	ClinGen TOPMed gnomAD
CA557255 rs150572969 COSM1248216 CA557254	273	G>R	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	275	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1000382138 CA17176757	277	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA557252 rs777905560	277	R>H		No	ClinGen ExAC TOPMed gnomAD
rs903564985 CA17176753	279	G>R		No	ClinGen TOPMed gnomAD
CA557249 rs755867591 CA557248	280	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1304823433	281	I>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA338087231 rs1484509736	282	S>I		No	ClinGen TOPMed
CA557247 rs750227062	282	S>R		No	ClinGen ExAC gnomAD
CA557246 rs780767406	283	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA557245 rs756897096	284	K>E		No	ClinGen ExAC gnomAD
rs751250623 CA557244	288	G>S		No	ClinGen ExAC gnomAD
rs773723773 CA557242	290	S>L		No	ClinGen ExAC TOPMed gnomAD
CA557217 rs761143686	291	S>N		No	ClinGen ExAC gnomAD
CA338086556 rs1401894338	293	E>D		No	ClinGen TOPMed
CA557216 CA17175968 rs267598682	294	D>E		No	ClinGen ExAC
rs267598681 CA17175960	295	E>*		No	ClinGen Ensembl
CA557214 rs767641232 COSM911258	296	R>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA338086462 rs1477375151	299	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs774283774 CA557212	300	D>A		No	ClinGen ExAC gnomAD
CA338086439 rs9434711	301	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140594423 CA557209	303	S>R		No	ClinGen ESP
rs768430028 CA557208 COSM911257	304	A>T	Variant assessed as Somatic; 0.0001387 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs544143020 CA557207	305	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1460525269 CA338086378	307	H>R		No	ClinGen gnomAD
rs770668383 CA557206	308	S>G		No	ClinGen ExAC gnomAD
CA338086345 rs1160932350	310	S>F		No	ClinGen gnomAD
CA338086340 rs1363035377	311	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs532035771 CA557204	312	R>C		No	ClinGen ExAC TOPMed gnomAD
rs779247363 CA557203	312	R>H		No	ClinGen ExAC TOPMed gnomAD
CA338086325 rs1235633072	313	S>P		No	ClinGen TOPMed
CA338086315 rs754586094	314	E>*		No	ClinGen ExAC TOPMed gnomAD
CA557200 rs754586094	314	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1268773844 CA338086299	315	C>F		No	ClinGen gnomAD
rs767024877 CA557198	316	S>F		No	ClinGen ExAC gnomAD
rs1256723626 CA338086293	316	S>P		No	ClinGen gnomAD
rs750769067 CA557196	319	L>V		No	ClinGen ExAC gnomAD
TCGA novel	320	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA17175920 rs199924699	323	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA557195 rs199924699	323	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338086232 rs199924699	323	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1483949061 CA338086207	325	R>S		No	ClinGen gnomAD
CA557194 rs377603924	326	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
COSM179387 CA557193 rs751854770	327	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA338086193 rs751854770	327	R>G		No	ClinGen ExAC TOPMed gnomAD
rs763049065 CA557191	327	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA557192 rs763049065	327	R>L		No	ClinGen ExAC gnomAD
rs1321915524 CA338086168 COSM3805685	329	K>N	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA338086171 rs1388775566	329	K>R		No	ClinGen TOPMed gnomAD
CA338086151 rs1455169102	331	R>K		No	ClinGen TOPMed gnomAD
TCGA novel	331	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776484404 CA557190	332	I>V		No	ClinGen ExAC gnomAD
rs1014635388 CA17174599	333	D>V		No	ClinGen TOPMed
TCGA novel	335	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1372674175 CA338085914	335	G>S		No	ClinGen TOPMed
rs774082049 CA338085903	336	D>E		No	ClinGen ExAC TOPMed gnomAD
rs914145567 CA17174583	337	G>S		No	ClinGen TOPMed gnomAD
CA338085863 rs1557554130	342	H>R		No	ClinGen Ensembl
TCGA novel	347	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	349	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338085792 rs1311864850	351	Q>R		No	ClinGen gnomAD
CA338085785 rs1557554105	352	G>D		No	ClinGen Ensembl
CA557164 rs558877285	352	G>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	354	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338085761 rs1372162079	356	I>V		No	ClinGen gnomAD
rs1435656050 CA338085741 COSM1343730	359	D>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs746309035 CA557161	362	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA338085712 rs1557554072	363	R>K		No	ClinGen Ensembl
CA338085708 rs1187484434	364	A>T		No	ClinGen gnomAD
rs1254343815 CA338085698	365	Y>C		No	ClinGen gnomAD
rs778168292 CA557157	369	C>Y		No	ClinGen ExAC gnomAD
rs528747250 CA557156	371	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA338085653 rs1408037198	372	P>S		No	ClinGen TOPMed
CA557154 rs765209995	374	L>V		No	ClinGen ExAC gnomAD
CA557153 rs755109010	377	A>S		No	ClinGen ExAC gnomAD
rs767495411 CA557151	379	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1325443411 CA338085603	380	G>S		No	ClinGen gnomAD
rs1032714700 CA17174528	381	K>Q		No	ClinGen Ensembl
rs761646495 CA557150	383	S>T		No	ClinGen ExAC gnomAD
rs774278917 CA557149	384	C>G		No	ClinGen ExAC gnomAD
rs774278917 CA338085573	384	C>R		No	ClinGen ExAC gnomAD
rs1571160605 CA338085571	384	C>S		No	ClinGen Ensembl
TCGA novel	385	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1232024535 CA338085533	388	E>Q		No	ClinGen gnomAD
TCGA novel	395	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA557125 rs776199928	396	P>L		No	ClinGen ExAC TOPMed gnomAD
CA338085467 rs776199928	396	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1270677882 CA338085465	397	K>E		No	ClinGen gnomAD
CA557123 rs747491646	399	D>Y		No	ClinGen ExAC gnomAD
CA17174372 rs773732605	400	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1453242840 CA338085443	400	D>N		No	ClinGen gnomAD
CA17174370 rs981376427	403	E>Q		No	ClinGen TOPMed
rs1258970596 CA338085389	407	G>D		No	ClinGen gnomAD
rs150785441 CA557117	407	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1483342274 CA338085357	410	E>K		No	ClinGen gnomAD
rs1238826843 CA338085342	411	E>K		No	ClinGen gnomAD
CA17174349 rs951751222	412	E>A		No	ClinGen TOPMed gnomAD
rs780153511 CA557114	412	E>D		No	ClinGen ExAC TOPMed gnomAD
CA338085302 rs751499625	414	D>H		No	ClinGen ExAC gnomAD
rs751499625 CA557110	414	D>N		No	ClinGen ExAC gnomAD
rs751499625 CA557109	414	D>Y		No	ClinGen ExAC gnomAD
rs1248741346 CA338085288	415	H>Y		No	ClinGen TOPMed
CA338085279 rs1483624105	416	M>L		No	ClinGen TOPMed
rs777855759 CA338085228	420	R>C		No	ClinGen ExAC gnomAD
CA557108 rs777855759	420	R>G		No	ClinGen ExAC gnomAD
rs375577706 CA557107	421	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA338085190 rs1314998243	423	K>R		No	ClinGen TOPMed gnomAD
CA338085192 rs1314998243	423	K>T		No	ClinGen TOPMed gnomAD
rs148051969 CA557104	424	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765007504 CA557105	424	D>G		No	ClinGen ExAC gnomAD
rs765825151 CA557102	425	G>R		No	ClinGen ExAC gnomAD
rs1485231148 CA338084980	441	H>P		No	ClinGen gnomAD
TCGA novel	443	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200120769 CA17174281	444	N>S		No	ClinGen ExAC gnomAD
CA557096 rs200120769	444	N>T		No	ClinGen ExAC gnomAD
rs768943855 CA557095	446	P>T		No	ClinGen ExAC gnomAD
CA17174269 rs1009562776	448	P>R		No	ClinGen TOPMed gnomAD
CA338084883 rs1226874121	449	E>K		No	ClinGen gnomAD
rs1323890779 CA338084824	452	N>D		No	ClinGen gnomAD
CA338084801 rs1467681403	453	G>C		No	ClinGen TOPMed
CA338084726 rs1362127459	456	L>V		No	ClinGen TOPMed
CA557093 rs780448929	457	C>Y		No	ClinGen ExAC gnomAD
CA338084612 rs1437377798	461	T>A		No	ClinGen gnomAD
rs749050123 CA557065	464	P>A		No	ClinGen ExAC TOPMed gnomAD
CA557064 rs779883746	466	K>E		No	ClinGen ExAC gnomAD
rs868145919 CA17173201	467	G>D		No	ClinGen Ensembl
rs755760822 CA557063	468	K>R		No	ClinGen ExAC TOPMed gnomAD
CA557061 rs527562697	471	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA557062 rs750119008	471	R>W		No	ClinGen ExAC gnomAD
CA338083664 rs1327140374	474	H>Y		No	ClinGen gnomAD
rs1272391617 CA338083637	476	R>T		No	ClinGen TOPMed
rs1373892922 CA338083618	477	W>*		No	ClinGen gnomAD
rs1341771058 CA338083615	478	T>A		No	ClinGen TOPMed
CA338083612 rs148974462	478	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA557059 rs148974462	478	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1313195110 CA338083608	479	E>K		No	ClinGen gnomAD
CA557057 rs150260986	480	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150260986 CA17173183	480	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1380126630 CA338083580	482	A>S		No	ClinGen gnomAD
CA17173164 rs925143700	482	A>V		No	ClinGen TOPMed
CA17173161 rs545109480	483	P>H		No	ClinGen gnomAD
rs545109480 CA338083565	483	P>L		No	ClinGen gnomAD
CA557055 rs375308991	485	M>T		No	ClinGen ESP ExAC gnomAD
CA557054 rs759808786	489	P>L		No	ClinGen ExAC TOPMed gnomAD
CA338083507 rs759808786	489	P>R		No	ClinGen ExAC TOPMed gnomAD
CA338083501 rs1453888976	490	G>E		No	ClinGen gnomAD
rs1445447237 CA338083492	491	P>L		No	ClinGen gnomAD
rs771002339 CA557052	491	P>S		No	ClinGen ExAC TOPMed gnomAD
CA338083487 rs1261270270	492	D>H		No	ClinGen TOPMed gnomAD
rs529823213 CA557050	493	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768467200 CA557049 CA338083463	494	E>D		No	ClinGen ExAC TOPMed gnomAD
CA338083466 rs1480680099	494	E>G		No	ClinGen TOPMed
rs201587240 CA557048	496	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA557047 rs367573457	496	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs745478057 CA557045	498	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1224581521 CA338083432	498	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA338083421 rs1313102688	499	P>S		No	ClinGen gnomAD
rs142665362 CA557044	500	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA17173126 rs141633582	501	K>E		No	ClinGen ESP gnomAD
rs756730179 CA557043	501	K>R		No	ClinGen ExAC TOPMed gnomAD
CA557041 rs763725149	502	P>L		No	ClinGen ExAC gnomAD
COSM1290218 rs751016124 CA557042	502	P>S	Variant assessed as Somatic; 9.323e-05 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA338083399 rs751016124	502	P>T		No	ClinGen ExAC gnomAD
rs758797269 CA557040	505	G>A		No	ClinGen ExAC gnomAD
CA338083364 rs1276840467	506	I>T		No	ClinGen TOPMed
CA557039 rs753304572	507	P>S		No	ClinGen ExAC gnomAD
rs1203264041 CA338083346	508	E>A		No	ClinGen TOPMed
CA557038 rs765645870	508	E>K		No	ClinGen ExAC gnomAD
rs1049712592 CA17173119	510	E>Q		No	ClinGen Ensembl
rs1255798790 CA338083320	510	E>V		No	ClinGen TOPMed gnomAD
rs1210822034 CA338083295	513	V>I		No	ClinGen TOPMed gnomAD
rs202175580 CA557037	516	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761080972 CA17173110	520	Y>H		No	ClinGen Ensembl
CA557035 rs766524187	526	V>A		No	ClinGen ExAC gnomAD
CA557033 rs773163009	527	K>R		No	ClinGen ExAC gnomAD
CA338082953 rs1195000490 COSM252437	536	T>M	ovary Variant assessed as Somatic; 0.0 impact. oesophagus [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
COSM911251 CA338082901 rs1215979211	540	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA17172878 rs1041067908	546	N>K		No	ClinGen TOPMed gnomAD
rs368618884 CA17172863	547	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs1305525986 CA338082779	548	M>V		No	ClinGen TOPMed gnomAD
CA557001 rs755538474	550	E>A		No	ClinGen ExAC gnomAD
rs143479789 CA557000	551	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143479789 CA556999	551	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338082720 rs1489955359	551	P>S		No	ClinGen TOPMed
rs750573843 CA556997	552	P>T		No	ClinGen ExAC gnomAD
CA17172827 rs947595346	553	P>A		No	ClinGen gnomAD
rs375622476 CA556996	553	P>H		No	ClinGen ESP ExAC gnomAD
rs375622476 CA556995	553	P>L		No	ClinGen ESP ExAC gnomAD
rs375622476 CA338082694	553	P>R		No	ClinGen ESP ExAC gnomAD
CA556994 rs751629609	556	Y>C		No	ClinGen ExAC gnomAD
CA338082651 rs1165591709	556	Y>H		No	ClinGen gnomAD
TCGA novel	557	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338082632 rs1452036228	557	G>S		No	ClinGen gnomAD
CA338082622 rs1297253608	558	S>P		No	ClinGen TOPMed
COSM1503520 CA556992 rs759443731	559	G>E	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA338082555 rs1486670161	562	D>G		No	ClinGen gnomAD
TCGA novel	563	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772682936 CA556988	563	G>D		No	ClinGen ExAC gnomAD
rs150733401 CA556989	563	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150733401 CA556990	563	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1368579320 CA338082499	566	E>K		No	ClinGen TOPMed
rs929900104 CA17172812	568	R>G		No	ClinGen TOPMed
CA556986 rs747876873	568	R>K		No	ClinGen ExAC TOPMed gnomAD
rs773970113 CA556985	568	R>S		No	ClinGen ExAC gnomAD
rs1355385703 COSM1627136 CA338082422	570	N>D	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
CA556984 rs768333409	571	K>E		No	ClinGen ExAC gnomAD
CA338082392 rs1571158694	572	D>A		No	ClinGen Ensembl
CA556982 rs780645925	573	P>H		No	ClinGen ExAC gnomAD
CA556983 rs780645925	573	P>R		No	ClinGen ExAC gnomAD
CA338082370 rs1376386319	574	L>H		No	ClinGen gnomAD
CA338082357 rs1433346204	575	Y>S		No	ClinGen TOPMed gnomAD
rs1272578108 CA338082342	576	A>V		No	ClinGen gnomAD
CA338082333 rs1479697309	577	K>R		No	ClinGen TOPMed
rs573765041 CA17172788	578	M>T		No	ClinGen 1000Genomes
rs1170581389 CA338082309	579	E>K		No	ClinGen gnomAD
CA338082292 rs1571158656	580	E>G		No	ClinGen Ensembl
CA556979 rs368326401	581	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs757436403 CA556978	581	R>H		No	ClinGen ExAC TOPMed gnomAD
rs751825704 CA556977 COSM1503521	584	R>C	lung Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA556975 rs141210110 COSM1296624	584	R>H	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs141210110 CA556976	584	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs961246098 CA17172769	585	Y>H		No	ClinGen Ensembl
rs1259309389 CA338082218	586	G>S		No	ClinGen gnomAD
CA17172768 rs375098527	586	G>V		No	ClinGen ESP
rs753649917 CA556974	587	I>V		No	ClinGen ExAC TOPMed gnomAD
rs760587600 CA556972	592	M>L		No	ClinGen ExAC gnomAD
rs773137731 CA556971	592	M>T		No	ClinGen ExAC gnomAD
CA338082132 rs760587600	592	M>V		No	ClinGen ExAC gnomAD
CA556970 rs767460450	594	I>S		No	ClinGen ExAC gnomAD
CA556969 rs200072245	595	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1028387499 CA17172754	596	R>Q		No	ClinGen Ensembl
CA338081791 rs1171306339	603	D>A		No	ClinGen TOPMed
rs1179261028 CA338081787	603	D>E		No	ClinGen TOPMed gnomAD
CA338081785 rs1470750498	604	K>E		No	ClinGen gnomAD
CA338081783 rs1232515950	604	K>R		No	ClinGen TOPMed gnomAD
CA556942 rs747386923	606	G>E		No	ClinGen ExAC gnomAD
rs1451298100 CA338081770	606	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1451298100 CA338081768	606	G>W		No	ClinGen TOPMed
rs748359129 CA556939	608	V>A		No	ClinGen ExAC gnomAD
CA556940 rs772333361	608	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1241599567 CA338081749	609	H>R		No	ClinGen gnomAD
CA338081744 rs1268299403	610	Y>H		No	ClinGen TOPMed
CA556935 rs781281474	612	I>M		No	ClinGen ExAC TOPMed gnomAD
rs757063544 CA556934	613	K>N		No	ClinGen ExAC TOPMed gnomAD
CA338081696 rs1323487449	616	D>E		No	ClinGen TOPMed gnomAD
rs1385839678 CA338081694	617	L>M		No	ClinGen TOPMed gnomAD
CA338081686 rs1160125729	618	P>S		No	ClinGen gnomAD
rs1332509616 CA338081677	619	Y>H		No	ClinGen gnomAD
rs554923142 CA17171332	620	D>N		No	ClinGen ExAC gnomAD
CA556931 rs554923142	620	D>Y		No	ClinGen ExAC gnomAD
CA556929 rs141495842	623	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA556928 rs777063752	626	I>M		No	ClinGen ExAC gnomAD
rs1411629541 CA338081497	632	P>L		No	ClinGen TOPMed
CA17171309 rs867938398 COSM911250	635	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs748353998 CA556922	637	L>V		No	ClinGen ExAC gnomAD
rs749395025 CA556919	638	K>R		No	ClinGen ExAC gnomAD
CA556918 rs370143399	640	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1007557168 CA338081366	643	G>C		No	ClinGen gnomAD
CA338081362 rs1319866472	643	G>D		No	ClinGen gnomAD
CA17171297 rs1007557168	643	G>S		No	ClinGen gnomAD
CA556917 rs377035401	644	H>Q		No	ClinGen ESP ExAC gnomAD
rs1236244607 CA338081042	649	L>V		No	ClinGen gnomAD
CA556891 rs554284427	652	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1333432502 CA338081009	654	R>K		No	ClinGen TOPMed
CA338080997 rs1196182116	656	P>S		No	ClinGen gnomAD
rs150216526 CA556890	658	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA556889 rs141014768	658	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1571157225 CA338080974	660	L>V		No	ClinGen Ensembl
CA338080943 rs1175558087	664	K>R		No	ClinGen TOPMed
CA17169561 rs948395858	666	L>P		No	ClinGen TOPMed gnomAD
VAR_035477	667	R>G	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
CA338080925 rs1379896526 COSM1343726	667	R>K	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA556888 rs750901129	668	D>H		No	ClinGen ExAC TOPMed gnomAD
CA556886 rs146510214	669	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs146510214 CA556885	669	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA338080890 rs1557551296	672	E>Q		No	ClinGen Ensembl
rs775863580 CA556882	673	K>M		No	ClinGen ExAC gnomAD
rs1399914278 CA338080871	674	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA556880 rs144464596	675	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA17169537 rs142551574	676	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
CA338080853 rs1163210157	677	T>M		No	ClinGen TOPMed gnomAD
rs1557551264 CA338080842	679	I>T		No	ClinGen Ensembl
CA17169515 rs1011683490	680	V>A		No	ClinGen TOPMed gnomAD
COSM535785 rs139532134 CA556877	680	V>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs759025918 CA556848	682	P>H		No	ClinGen ExAC TOPMed
CA338080811 rs759025918 COSM681585	682	P>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
rs999797256 CA17168614	683	T>M		No	ClinGen TOPMed gnomAD
CA556845 rs759665731	687	D>N		No	ClinGen ExAC TOPMed gnomAD
rs138478240 CA556844	688	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1310458921 CA338080734	690	P>S		No	ClinGen gnomAD
TCGA novel	693	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760839265 CA556842	693	I>V		No	ClinGen ExAC TOPMed gnomAD
COSM1343724 rs774223603 CA556841	694	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	698	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201805131 CA556839	699	T>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1571156484 CA338080623	701	H>P		No	ClinGen Ensembl
rs146566155 CA556835	702	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1361883882 CA338080616	702	P>S		No	ClinGen TOPMed
TCGA novel	704	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	706	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA556833 rs556178109	712	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338080547 rs556178109	712	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	713	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1256835141 CA338080517	716	A>D		No	ClinGen TOPMed
rs199560287 COSM2157524 CA556831	718	G>D	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA338080506 rs1420980884	718	G>S		No	ClinGen gnomAD
TCGA novel	720	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1571156455 CA338080487	721	T>P		No	ClinGen Ensembl
rs1571156447 CA338080428	729	L>R		No	ClinGen Ensembl
CA556827 rs753965800	733	V>M		No	ClinGen ExAC gnomAD
CA338080394 rs1571156436	735	T>P		No	ClinGen Ensembl
CA17168510 rs766645058	736	I>M		No	ClinGen ExAC gnomAD
CA17168512 rs920691061	736	I>V		No	ClinGen TOPMed
CA556825 rs756337392	737	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	738	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs973488871 CA17168499	740	Y>D		No	ClinGen TOPMed gnomAD
CA338080327 rs1557550646	745	E>*		No	ClinGen Ensembl
TCGA novel	745	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs965925767 CA17168378	749	K>Q		No	ClinGen Ensembl
CA556800 rs765202272	749	K>R		No	ClinGen ExAC gnomAD
rs1441655970 CA338080267	752	Y>C		No	ClinGen gnomAD
TCGA novel	756	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA556797 rs144145989	756	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs747682429 CA556793	760	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1571156264 CA338080221	760	T>P		No	ClinGen Ensembl
CA338080216 rs1395111222	761	I>V		No	ClinGen TOPMed
CA338080199 rs1475400680	763	N>S		No	ClinGen gnomAD
CA338080175 rs1219384828	766	R>C		No	ClinGen gnomAD
CA556791 rs769174090	769	E>V		No	ClinGen ExAC gnomAD
rs749824587 CA556790	770	M>I		No	ClinGen ExAC gnomAD
CA556789 rs200205875	772	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA556788 COSM177220 rs770153232	772	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs777785518 CA556783	774	D>E		No	ClinGen ExAC gnomAD
CA556784 rs751630064	774	D>N		No	ClinGen ExAC TOPMed gnomAD
CA338080120 rs751630064	774	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs571442653 CA556781	777	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs939369028 CA17168328	779	T>A		No	ClinGen Ensembl
rs1250224589 CA338080078	780	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs941633809 CA17168312	783	D>N		No	ClinGen Ensembl
rs767255983 CA556776	784	K>R		No	ClinGen ExAC gnomAD
rs761595588 CA556775	786	S>C		No	ClinGen ExAC gnomAD
rs747181134 CA556774	788	S>L		No	ClinGen ExAC TOPMed gnomAD
rs763457372 CA556772	791	R>Q		No	ClinGen ExAC gnomAD
rs1253890454 CA338079960	797	F>L		No	ClinGen TOPMed gnomAD
rs758448519 CA17168296	800	N>D		No	ClinGen TOPMed
CA556769 rs567329094 COSM179381	801	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA17168294 rs866793259	802	I>S		No	ClinGen Ensembl
rs1397903786 CA338079922	803	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs781580398 CA556768	803	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA556767 rs771140431	804	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1171933419 CA338079914	805	G>R		No	ClinGen TOPMed
TCGA novel	805	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338079904 rs1415112967	806	K>R		No	ClinGen TOPMed gnomAD
rs1404391126 CA338079894	807	K>N		No	ClinGen gnomAD
rs1571156117 CA338079889	808	V>E		No	ClinGen Ensembl
CA338079876 rs1424567700	810	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA556765 rs147522329	810	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs147522329 CA338079875	810	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	814	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA556738 rs757005064	814	E>A		No	ClinGen ExAC gnomAD
rs1290392160 CA338079648	814	E>D		No	ClinGen gnomAD
rs763673468 CA338079632	817	I>F		No	ClinGen ExAC TOPMed gnomAD
rs763673468 CA556736	817	I>V		No	ClinGen ExAC TOPMed gnomAD
CA556733 rs764789004	821	V>L		No	ClinGen ExAC TOPMed gnomAD
CA338079601 rs764789004	821	V>M		No	ClinGen ExAC TOPMed gnomAD
CA338079586 rs1571153133	824	T>P		No	ClinGen Ensembl
CA17163884 rs943304160	826	Y>C		No	ClinGen TOPMed gnomAD
CA338079539 rs1163116197	829	I>V		No	ClinGen gnomAD
rs1571153100 CA338079526	830	T>P		No	ClinGen Ensembl
rs2250358 CA338079506	831	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA17163873 rs868710116	832	D>N		No	ClinGen Ensembl
CA338079474 rs1291029530	834	A>T		No	ClinGen TOPMed
rs773676884 CA338079446	837	G>C		No	ClinGen ExAC TOPMed gnomAD
rs773676884 CA556728	837	G>R		No	ClinGen ExAC TOPMed gnomAD
rs773676884 CA338079447	837	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	838	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM911246 rs866633572 CA17163849	840	E>K	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA556725 rs774557215	843	C>S		No	ClinGen ExAC gnomAD
CA338079404 rs774557215	843	C>Y		No	ClinGen ExAC gnomAD
CA338079389 rs1311604640	846	V>I		No	ClinGen gnomAD
CA338079351 COSM1343722 rs1372942526	851	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1333439739 CA338079349	851	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	853	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1192833096 CA338079318	855	N>K		No	ClinGen TOPMed
TCGA novel	860	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338079267 rs1485596237	861	R>G		No	ClinGen gnomAD
rs778558709 CA556697	862	V>F		No	ClinGen ExAC gnomAD
rs1320370457 CA338079228	866	Y>C		No	ClinGen gnomAD
CA338079231 rs1219650887	866	Y>H		No	ClinGen gnomAD
CA338079223 rs1470017902	867	K>E		No	ClinGen TOPMed
CA556693 rs756564028	869	D>G		No	ClinGen ExAC gnomAD
CA17163664 rs895843981	871	K>R		No	ClinGen TOPMed
TCGA novel	884	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1445150069 CA338079097	886	L>M		No	ClinGen TOPMed gnomAD
CA338079061 rs1331526606	891	N>T		No	ClinGen gnomAD
CA338079035 rs1467019165	895	P>S		No	ClinGen gnomAD
rs1304685989 CA338079008	899	N>D		No	ClinGen TOPMed
CA338079004 rs1169458140	899	N>S		No	ClinGen gnomAD
TCGA novel	902	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	907	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1165578703 CA338078912	910	D>E		No	ClinGen TOPMed
rs1474624774 CA338078899	912	S>C		No	ClinGen TOPMed
TCGA novel	924	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	925	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA556667 rs759685621	928	M>L		No	ClinGen ExAC TOPMed gnomAD
rs367567207 CA556665	934	A>T		No	ClinGen ESP ExAC gnomAD
CA556663 rs143566579	936	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA556661 COSM911243 rs748825072	942	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	943	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338078677 rs1361057477	944	T>N		No	ClinGen gnomAD
TCGA novel	953	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338078600 COSM3386265 rs1557547746	955	M>I	pancreas [Cosmic]	No	ClinGen cosmic curated Ensembl
CA556655 rs747533927	956	Q>E		No	ClinGen ExAC
rs201418790 CA338078568	958	K>M		No	ClinGen ExAC TOPMed gnomAD
CA556625 rs201418790	958	K>R		No	ClinGen ExAC TOPMed gnomAD
rs764957871 CA556624	961	K>R		No	ClinGen ExAC gnomAD
rs1557547572 CA338078514	966	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA556623 rs370687084	972	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1024604852 CA17161940	973	S>F		No	ClinGen Ensembl
rs770520672 CA338078451	975	G>A		No	ClinGen ExAC gnomAD
rs770520672 CA556621	975	G>V		No	ClinGen ExAC gnomAD
rs1474737639 CA338078438	977	G>R		No	ClinGen TOPMed gnomAD
rs982624932 CA17161908	981	S>L		No	ClinGen gnomAD
rs779277974 CA556616	986	M>T		No	ClinGen ExAC gnomAD
CA338078284 rs951339557 CA17161836	987	M>I		No	ClinGen Ensembl
CA338078268 rs1457915130	988	D>E		No	ClinGen gnomAD
CA338078193 rs1571151830	994	N>T		No	ClinGen Ensembl
CA338078177 rs1571151826	995	H>P		No	ClinGen Ensembl
CA338078149 rs1571151816	997	Y>S		No	ClinGen Ensembl
rs1571151813 CA338078118	999	F>S		No	ClinGen Ensembl
CA338078091 rs1571151807	1001	V>G		No	ClinGen Ensembl
rs1571151805 CA338078086	1002	A>P		No	ClinGen Ensembl
rs756372764 CA556612	1004	V>M		No	ClinGen ExAC gnomAD
CA556587 rs755006150	1005	E>D		No	ClinGen ExAC gnomAD
rs188029046 CA556584	1008	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA556582 rs767012844	1011	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1046773276 CA17161295	1014	Y>H		No	ClinGen Ensembl
rs1222325613 CA338077832	1015	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1023	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA556579 rs764473779	1034	K>R		No	ClinGen ExAC gnomAD
rs746052525 CA556575	1037	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs200489902 CA556576	1037	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1557547225 CA338077609	1038	D>E		No	ClinGen Ensembl
rs898155631 CA17161228	1038	D>Y		No	ClinGen Ensembl
rs1399801843 CA338077608	1039	E>K		No	ClinGen TOPMed gnomAD
CA338077607 rs1399801843	1039	E>Q		No	ClinGen TOPMed gnomAD
CA556574 rs776744869	1042	R>G		No	ClinGen ExAC TOPMed gnomAD
CA338077545 rs1571151365	1048	Q>P		No	ClinGen Ensembl
TCGA novel	1067	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752257270 CA556542	1073	G>A		No	ClinGen ExAC gnomAD
CA556539 rs754139925	1080	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1490684735 CA338077269	1081	E>K		No	ClinGen TOPMed
rs201975429 CA556538	1083	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1178140926 CA338077186	1087	N>S		No	ClinGen gnomAD
rs1481788520 CA338077176	1088	A>P		No	ClinGen gnomAD
CA556511 rs774559118	1090	G>R		No	ClinGen ExAC gnomAD
rs1159184117 CA338076886	1101	R>P		No	ClinGen gnomAD
rs902336928 CA17158455	1101	R>W		No	ClinGen Ensembl
CA17158448 rs866230027	1103	G>D		No	ClinGen Ensembl
CA338076811 rs1571149174	1108	N>T		No	ClinGen Ensembl
rs1158845188 CA338076740	1114	T>S		No	ClinGen TOPMed gnomAD
CA338076603 rs1261881368	1126	N>I		No	ClinGen gnomAD
CA556505 rs138898133	1127	D>V		No	ClinGen ESP ExAC
rs760543451 CA556470	1132	S>N		No	ClinGen ExAC gnomAD
rs1390212280 CA338076355 COSM243673	1133	R>H	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs767255088 CA556468	1134	A>T		No	ClinGen ExAC gnomAD
CA17157502 rs866043562	1138	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA338076321 rs1179380048	1139	Q>*		No	ClinGen gnomAD
CA17157470 rs939052597	1142	K>E		No	ClinGen TOPMed
rs1269428222 CA338076247	1149	V>M		No	ClinGen gnomAD
rs775003471 CA556463	1151	R>W		No	ClinGen ExAC gnomAD
rs1351642953 CA338076220 COSM2150715 COSM42644	1153	S>L	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA338076195 rs1237325968	1157	R>C		No	ClinGen gnomAD
rs1304235291 CA338076179	1159	T>M		No	ClinGen gnomAD
TCGA novel	1164	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1363216674 CA338076147	1164	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1331857533 CA338076080	1174	R>W		No	ClinGen TOPMed
TCGA novel	1178	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1178	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338076036 rs1465629853	1181	S>A		No	ClinGen TOPMed
rs1008462843 CA17157392	1181	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA556454 rs139775820	1182	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA17157341 rs1029272043	1184	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	1187	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA556450 rs761802456	1191	D>N		No	ClinGen ExAC gnomAD
rs1253698140 CA338075935	1196	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA338075911 rs1571148433	1199	E>G		No	ClinGen Ensembl
CA556447 rs762599632	1203	D>N		No	ClinGen ExAC gnomAD
rs868243347 CA17157331	1204	D>N		No	ClinGen gnomAD
rs201380508 CA556444 COSM378860	1205	V>M	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	1206	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1449164955 CA338075841	1207	G>V		No	ClinGen TOPMed gnomAD
CA338075795 rs1329899149	1213	Q>H		No	ClinGen TOPMed
CA338075782 rs1185828363	1215	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA338075787 rs1323282584	1215	P>T		No	ClinGen TOPMed
CA556426 rs759321461	1216	V>F		No	ClinGen ExAC gnomAD
rs1205880419 CA338075771	1217	T>I		No	ClinGen gnomAD
TCGA novel	1218	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA556424 rs765992512	1219	I>V		No	ClinGen ExAC gnomAD
rs773619212 CA556422	1222	V>I		No	ClinGen ExAC TOPMed gnomAD
CA556420 rs748432869	1223	Q>E		No	ClinGen ExAC gnomAD
CA556419 rs201075301	1223	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
CA556418 rs768850601	1225	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1557544846 CA338075711	1227	G>E		No	ClinGen Ensembl
CA338075712 rs1444367541	1227	G>W		No	ClinGen gnomAD
rs749521960 CA556417	1228	G>R		No	ClinGen ExAC gnomAD
rs1429123770 CA338075700	1229	N>S		No	ClinGen gnomAD
CA556416 rs372589199	1229	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs746915140 CA556414	1230	L>F		No	ClinGen ExAC TOPMed gnomAD
rs201442436 CA556413	1231	A>S		No	ClinGen ExAC TOPMed gnomAD
CA556411 rs558552874	1232	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM1343717 CA556408 rs754610815	1235	K>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs753577746 COSM1728345 CA556407	1237	K>Q	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1243384412 CA338075634	1239	G>D		No	ClinGen gnomAD
CA17157096 rs966745807	1239	G>S		No	ClinGen TOPMed
CA338075623 rs1571148200	1241	T>P		No	ClinGen Ensembl
CA338075619 rs1307528653	1241	T>S		No	ClinGen gnomAD
CA556404 rs772821101	1242	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1307287207 CA338075609	1243	P>L		No	ClinGen gnomAD
CA338075577 rs1205077790	1246	N>T		No	ClinGen TOPMed
CA17156877 VAR_048729 rs6657997	1253	S>I		No	ClinGen UniProt Ensembl dbSNP
TCGA novel	1253	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1013342220 CA17156876	1257	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs775870386 CA556372	1259	D>N		No	ClinGen ExAC gnomAD
rs759818397 CA556370	1260	A>V		No	ClinGen ExAC TOPMed gnomAD
CA556366 rs778975171	1267	D>N		No	ClinGen ExAC gnomAD
TCGA novel	1268	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338075410 rs1384195841	1269	N>H		No	ClinGen gnomAD
CA338075349 rs1470474576	1273	T>A		No	ClinGen gnomAD
rs1470474576 CA338075347	1273	T>S		No	ClinGen gnomAD
rs200671755 CA338075311	1276	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs200671755 CA556363	1276	T>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1280	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780524771 CA556360	1281	M>I		No	ClinGen ExAC TOPMed gnomAD
rs750093164 CA556361	1281	M>V		No	ClinGen ExAC gnomAD
rs1364035397 CA338075174	1286	S>T		No	ClinGen TOPMed
CA338075104 COSM243674 rs1462447310	1291	A>V	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
CA556357 rs764554049	1294	V>L		No	ClinGen ExAC gnomAD
CA338075070 rs764554049	1294	V>M		No	ClinGen ExAC gnomAD
CA556356 rs763516028	1296	R>G		No	ClinGen ExAC gnomAD
CA338075039 rs1340320056	1296	R>L		No	ClinGen gnomAD
CA338075041 rs1340320056	1296	R>P		No	ClinGen gnomAD
rs1453878947 CA338074992	1299	D>E		No	ClinGen TOPMed gnomAD
rs1332580403 CA338074982	1300	G>D		No	ClinGen gnomAD
CA338074989 rs1342678997	1300	G>S		No	ClinGen TOPMed gnomAD
CA338074188 rs1321012112	1302	E>V		No	ClinGen TOPMed
rs779444902 CA17154113	1304	V>L		No	ClinGen ExAC TOPMed gnomAD
CA556319 rs779444902	1304	V>M		No	ClinGen ExAC TOPMed gnomAD
CA556317 rs754219250	1305	E>G		No	ClinGen ExAC gnomAD
rs1250073123 CA338074137	1306	R>W		No	ClinGen gnomAD
rs951592063 CA17154093	1312	E>*		No	ClinGen TOPMed
CA556315 rs756334293	1312	E>D		No	ClinGen ExAC
rs761927673 CA556312	1315	V>M		No	ClinGen ExAC TOPMed gnomAD
CA338073987 rs1571147007	1316	D>A		No	ClinGen Ensembl
rs774334456 CA338073976	1316	D>E		No	ClinGen ExAC gnomAD
CA338073968 rs1310946425	1317	P>S		No	ClinGen gnomAD
CA338073949 rs1456459424	1318	D>G		No	ClinGen TOPMed
CA338073875 rs1571146994	1323	L>V		No	ClinGen Ensembl
rs1214575518 CA338073850	1325	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs978646000 CA17154069	1325	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1329	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1343869532 CA338073781	1330	Q>H		No	ClinGen gnomAD
CA556309 rs759449371	1332	Q>R		No	ClinGen ExAC gnomAD
rs1571146981 CA338073752	1334	D>A		No	ClinGen Ensembl
COSM310081 CA556307 rs770744143	1334	D>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA338073755 rs770744143	1334	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA338073739 rs1445804841	1336	A>V		No	ClinGen gnomAD
CA556305 rs772831691	1337	R>C		No	ClinGen ExAC gnomAD
CA338073736 rs1333610393	1337	R>H		No	ClinGen TOPMed gnomAD
rs527411269 CA17154049	1338	N>S		No	ClinGen 1000Genomes gnomAD
TCGA novel	1346	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778348411 CA556303	1352	N>K		No	ClinGen ExAC TOPMed gnomAD
rs769153589 CA556301	1354	A>T		No	ClinGen ExAC gnomAD
CA556275 rs781466103	1362	Q>K		No	ClinGen ExAC gnomAD
rs751734553 CA556273	1363	D>E		No	ClinGen ExAC
CA556274 rs199847565	1363	D>G		No	ClinGen ExAC gnomAD
CA556272 rs758386703	1364	E>D		No	ClinGen ExAC
CA338073530 rs766300383	1365	L>F		No	ClinGen ExAC TOPMed gnomAD
CA556269 rs766300383	1365	L>I		No	ClinGen ExAC TOPMed gnomAD
CA556270 rs766300383	1365	L>V		No	ClinGen ExAC TOPMed gnomAD
CA556267 rs750163696	1374	I>T		No	ClinGen ExAC
rs371081328 CA556265	1387	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1387	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338073355 rs1180858757	1389	G>V		No	ClinGen gnomAD
rs1363527047 CA338073330	1391	S>N		No	ClinGen gnomAD
CA338073326 rs1571146419	1391	S>R		No	ClinGen Ensembl
rs1320291435 CA338073316	1393	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1404901753 CA338073312	1394	R>Q		No	ClinGen gnomAD
rs1049610312 CA338073297	1396	S>C		No	ClinGen gnomAD
rs1049610312 CA17153081	1396	S>F		No	ClinGen gnomAD
CA338073294 rs1390434993	1397	R>Q		No	ClinGen gnomAD
CA338073295 rs1465068123	1397	R>W		No	ClinGen gnomAD
CA556247 rs756976603	1403	D>G		No	ClinGen ExAC gnomAD
CA17153055 rs201323551	1406	K>N		No	ClinGen TOPMed gnomAD
rs1482059598 CA338072875	1407	P>T		No	ClinGen TOPMed
CA338072859 rs1187993181	1409	P>L		No	ClinGen gnomAD
rs1250734951 CA338072862	1409	P>S		No	ClinGen TOPMed
CA338072853 rs1253919554	1410	P>L		No	ClinGen gnomAD
rs1485409960 CA338072850	1411	L>F		No	ClinGen gnomAD
rs1340300787 CA338072822	1413	A>G		No	ClinGen gnomAD
rs1207635729 CA338072827	1413	A>S		No	ClinGen gnomAD
rs1269987544 CA338072819	1414	R>*		No	ClinGen gnomAD
CA556243 rs775080261 COSM229649	1414	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1234081934 CA338072793	1416	G>A		No	ClinGen gnomAD
rs764844670 CA556242	1416	G>S		No	ClinGen ExAC gnomAD
CA338072790 rs1311151970	1417	G>S		No	ClinGen gnomAD
CA556241 rs376892740	1418	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA338072623 rs993127014	1424	F>L		No	ClinGen TOPMed gnomAD
rs1241539073 CA338072609	1425	N>S		No	ClinGen TOPMed
CA556215 rs749319838 COSM3689790	1427	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA338072586 rs1156910848	1427	R>Q		No	ClinGen gnomAD
rs770713905 CA556213	1429	R>Q		No	ClinGen ExAC gnomAD
rs1449170317 CA338072502	1435	A>T		No	ClinGen TOPMed
CA556211 rs777670164	1435	A>V		No	ClinGen ExAC gnomAD
CA17152678 rs199805203	1436	I>V		No	ClinGen 1000Genomes gnomAD
rs1250253333 CA338072468	1437	M>I		No	ClinGen TOPMed gnomAD
CA556210 rs758289975	1437	M>L		No	ClinGen ExAC TOPMed gnomAD
rs758289975 CA338072480	1437	M>V		No	ClinGen ExAC TOPMed gnomAD
CA17152672 rs866772665	1438	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	1439	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1440	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147015402 CA556209	1440	G>S		No	ClinGen ESP ExAC gnomAD
rs1294452709 CA338072432	1441	M>V		No	ClinGen TOPMed
rs990972796 CA17152655	1443	P>L		No	ClinGen gnomAD
CA338072400 rs1278720940	1443	P>S		No	ClinGen gnomAD
CA338072383 rs1225701396	1444	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1338358525 CA338072367	1445	D>G		No	ClinGen TOPMed
CA556205 rs143075819	1446	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1571146128 CA338072328	1448	N>S		No	ClinGen Ensembl
CA556204 rs761049455	1449	S>C		No	ClinGen ExAC TOPMed gnomAD
CA17152618 rs754212438	1450	H>Q		No	ClinGen gnomAD
CA556203 rs750954058	1453	V>G		No	ClinGen ExAC gnomAD
rs1557542934 CA338072265	1453	V>L		No	ClinGen Ensembl
CA556202 rs768065431	1454	R>G		No	ClinGen ExAC TOPMed gnomAD
CA338072249 COSM345080 rs1405522150	1454	R>Q	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA338072253 rs768065431	1454	R>W		No	ClinGen ExAC TOPMed gnomAD
rs774760080 CA556200	1455	D>G		No	ClinGen ExAC
CA338072223 rs1571146105	1456	L>P		No	ClinGen Ensembl
rs1416194984 CA338072214 COSM911227	1457	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA556198 rs377385106	1460	S>I		No	ClinGen ExAC TOPMed gnomAD
rs769945939 CA556196	1461	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1462	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1186993989 CA338072167	1463	E>D		No	ClinGen TOPMed gnomAD
rs746871078 CA556195	1464	F>L		No	ClinGen ExAC gnomAD
CA556194 rs777831280	1465	R>G		No	ClinGen ExAC gnomAD
rs1417697507 CA338072029	1467	Y>H		No	ClinGen gnomAD
rs567200676 CA556156	1471	F>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1473263560 CA338071982 CA338071980	1472	M>I		No	ClinGen gnomAD
rs907585802 CA17151973	1473	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA338071969 rs1176316864	1474	H>Y		No	ClinGen gnomAD
CA338071934 rs1197654187	1478	P>L		No	ClinGen gnomAD
CA338071922 rs1334100221	1480	A>V		No	ClinGen TOPMed gnomAD
rs930319952 CA17151953	1482	G>C		No	ClinGen Ensembl
TCGA novel	1483	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1484	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338071881 rs1331377830	1486	F>L		No	ClinGen gnomAD
CA338071859 rs1368486904	1490	V>L		No	ClinGen gnomAD
CA338071852 rs1295664716	1491	P>S		No	ClinGen gnomAD
rs774327302 CA556148	1492	R>Q		No	ClinGen ExAC gnomAD
rs761795865 CA556149	1492	R>W	Variant assessed as Somatic; 4.721e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1459263902 CA338071831	1495	L>V		No	ClinGen TOPMed gnomAD
rs749109172 COSM535799 CA556146	1496	S>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA556145 rs148542692	1498	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1057206674 CA17151914	1500	V>M		No	ClinGen TOPMed
CA338071753 rs1191550582	1503	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs539999609 CA556140	1506	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA338071697 rs1238343036	1508	S>T		No	ClinGen gnomAD
rs758887148 CA556138	1510	V>L		No	ClinGen ExAC TOPMed gnomAD
CA338071676 rs1232326373	1511	R>K		No	ClinGen gnomAD
rs568577877 CA17151610	1521	N>S		No	ClinGen gnomAD
CA338071453 rs1425470885	1526	T>N		No	ClinGen gnomAD
CA556123 rs200938629	1526	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA556122 rs746518710	1527	P>L		No	ClinGen ExAC gnomAD
CA338071445 rs1338369337	1527	P>S		No	ClinGen TOPMed gnomAD
CA556120 rs772563408	1531	P>S		No	ClinGen ExAC gnomAD
CA338071397 rs1330251647	1532	E>K		No	ClinGen gnomAD
rs1337915803 CA338071377	1533	G>V		No	ClinGen TOPMed gnomAD
TCGA novel	1534	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755369914 CA556117	1534	P>S		No	ClinGen ExAC gnomAD
CA338071360 rs1290913801 CA338071358	1535	E>D		No	ClinGen TOPMed gnomAD
CA556115 rs780415966	1535	E>K		No	ClinGen ExAC gnomAD
CA338071352 rs1413573305	1536	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs750463410 CA338071316	1539	S>*		No	ClinGen ExAC gnomAD
CA556113 rs750463410	1539	S>L		No	ClinGen ExAC gnomAD
CA556114 rs2843493 VAR_048730	1539	S>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA338071321 rs2843493	1539	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA556111 rs150095781	1540	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA338071303 rs1416327618	1541	E>K		No	ClinGen TOPMed gnomAD
CA338071290 rs147998739	1542	V>A		No	ClinGen ExAC TOPMed gnomAD
CA556108 rs147998739	1542	V>G		No	ClinGen ExAC TOPMed gnomAD
CA556109 rs765209407	1542	V>M		No	ClinGen ExAC gnomAD
rs776477384 CA556107	1543	I>T		No	ClinGen ExAC gnomAD
rs201559496 CA556106	1545	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1436290428 CA338071271	1546	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA17151457 rs199810631	1550	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1210756253 CA338071228	1552	P>L		No	ClinGen gnomAD
COSM175530 CA338071226 rs1160075084	1553	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA556103 rs570770301	1553	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA338071184 rs1384011416	1556	A>S		No	ClinGen TOPMed
rs1329297742 CA338071178	1556	A>V		No	ClinGen gnomAD
CA556101 rs779528061	1557	H>P		No	ClinGen ExAC gnomAD
rs779528061 CA338071171	1557	H>R		No	ClinGen ExAC gnomAD
rs749653354 CA556099	1558	L>I		No	ClinGen ExAC gnomAD
rs749653354 CA556100	1558	L>V		No	ClinGen ExAC gnomAD
rs1323983162 CA338071146	1559	L>P		No	ClinGen gnomAD
CA338071137 rs1447358853	1560	P>S		No	ClinGen TOPMed
CA556095 rs781286534	1562	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs200173777 CA556096	1562	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA338071078 rs1160310339	1566	P>S		No	ClinGen gnomAD
rs1244287146 CA338070184	1567	D>E		No	ClinGen TOPMed gnomAD
CA17148817 rs932601154	1568	K>T		No	ClinGen TOPMed gnomAD
CA556076 rs757567388	1571	A>T		No	ClinGen ExAC gnomAD
rs374832412 CA17148799	1571	A>V		No	ClinGen Ensembl
rs747078427 CA556075	1572	Q>H		No	ClinGen ExAC TOPMed
rs1278696521 CA338070031	1575	Y>C		No	ClinGen TOPMed gnomAD
CA556072 rs138962606	1576	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA556073 rs754869172	1576	M>T		No	ClinGen ExAC TOPMed gnomAD
rs955901532 CA17148779	1577	D>G		No	ClinGen Ensembl
COSM1686925 rs1228803022 CA338069977	1578	E>K	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs766351253 CA556071	1579	K>E		No	ClinGen ExAC TOPMed gnomAD
CA338069913 rs1571144280	1580	D>A		No	ClinGen Ensembl
CA338069910 rs866978202 COSM1474120	1580	D>E	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1557541194 CA338069923	1580	D>N		No	ClinGen Ensembl
rs945772099 CA17148765	1581	P>R		No	ClinGen TOPMed
CA556068 rs527819079	1582	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs185960707 CA556067	1583	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1436823071 CA338069855	1583	A>V		No	ClinGen gnomAD
CA556066 rs773935601	1584	Q>R		No	ClinGen ExAC gnomAD
CA338069819 rs1173430823	1585	K>R		No	ClinGen gnomAD
CA338069759 rs1410918223	1588	Q>K		No	ClinGen gnomAD
rs1469595109 CA338069688	1592	V>F		No	ClinGen TOPMed
CA338069248 rs1420495273	1596	P>L		No	ClinGen TOPMed gnomAD
rs1018048435 CA17148400	1597	A>V		No	ClinGen TOPMed gnomAD
CA556035 rs761874883	1598	A>S		No	ClinGen ExAC TOPMed gnomAD
rs761874883 CA556034	1598	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1156906773 CA338069227	1600	D>G		No	ClinGen gnomAD
CA338069223 rs1416618450	1601	R>G		No	ClinGen gnomAD
CA556033 rs780805084	1602	V>M		No	ClinGen ExAC TOPMed gnomAD
CA338069211 rs1420518236	1603	E>K		No	ClinGen gnomAD
rs1176439995 CA338069201	1604	S>R		No	ClinGen TOPMed gnomAD
rs1006816516 CA17148388	1605	E>K		No	ClinGen Ensembl
rs888174519 CA338069174	1607	K>N		No	ClinGen TOPMed
CA338069160 rs1477004432	1609	E>G		No	ClinGen gnomAD
CA556029 rs139264279	1609	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338069156 rs1467924521	1610	S>G		No	ClinGen gnomAD
CA556028 rs752090790	1610	S>R		No	ClinGen ExAC gnomAD
TCGA novel	1615	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1318984020 CA338069109	1615	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs759911109 CA556026	1616	R>S		No	ClinGen ExAC gnomAD
CA338069076 rs1223406120	1618	R>G		No	ClinGen gnomAD
rs754347862 CA556025	1618	R>P		No	ClinGen ExAC TOPMed gnomAD
CA17148338 rs754347862	1618	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA338069068 rs1306083617	1619	E>Q		No	ClinGen gnomAD
CA17148309 rs761021667	1620	E>G		No	ClinGen ExAC TOPMed gnomAD
CA556024 rs766833642	1620	E>K		No	ClinGen ExAC gnomAD
CA556023 rs761021667	1620	E>V		No	ClinGen ExAC TOPMed gnomAD
RCV000903484 rs147417867 CA556020	1621	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs772221709 CA556021	1621	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1454444445 CA338069029	1623	E>Q		No	ClinGen gnomAD
rs774252696 CA556019	1625	T>M		No	ClinGen ExAC TOPMed gnomAD
CA338068997 rs774252696	1625	T>R		No	ClinGen ExAC TOPMed gnomAD
rs370163365 CA556016	1629	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA556017 rs749380220	1629	P>S		No	ClinGen ExAC TOPMed gnomAD
CA338068938 rs1571144002	1631	S>P		No	ClinGen Ensembl
rs201640978 COSM2156475 CA556013	1632	P>L	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1259030492 CA338068926	1632	P>S		No	ClinGen gnomAD
rs747866802 CA556011	1633	E>K		No	ClinGen ExAC TOPMed gnomAD
CA556010 rs148282370	1634	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1370951963 CA338068884	1636	P>A		No	ClinGen gnomAD
CA556009 COSM304287 rs754478607	1636	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA555975 rs747961240	1638	E>G		No	ClinGen ExAC gnomAD
rs1290416093 CA338067483	1639	E>K		No	ClinGen TOPMed
rs774026286 CA555974	1640	V>M		No	ClinGen ExAC TOPMed gnomAD
CA555973 rs748920909	1643	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs779486662 CA555970	1646	K>R		No	ClinGen ExAC gnomAD
rs1274231161 CA338067398	1647	I>T		No	ClinGen gnomAD
rs376036147 CA555969	1648	L>P		No	ClinGen ESP ExAC gnomAD
rs781663550 CA555967	1649	D>E		No	ClinGen ExAC gnomAD
CA555968 rs745426545	1649	D>N		No	ClinGen ExAC TOPMed gnomAD
CA338067347 rs1366086680	1652	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	1652	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338067308 rs1323118176	1655	L>F		No	ClinGen TOPMed
rs1174697815 CA338067291	1656	I>T		No	ClinGen gnomAD
rs937389187 CA17140988	1658	S>T		No	ClinGen TOPMed
CA555964 rs778006752	1660	G>W		No	ClinGen ExAC gnomAD
CA555963 rs758606696	1662	S>G		No	ClinGen ExAC gnomAD
CA338067128 COSM1200984 rs1476026134	1664	E>K	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1476026134 CA338067124	1664	E>Q		No	ClinGen TOPMed gnomAD
rs755263508 CA555942 COSM3977792	1668	D>G	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs753900117 CA555941	1669	D>A		No	ClinGen ExAC TOPMed
CA555940 rs766396804	1670	T>A		No	ClinGen ExAC TOPMed gnomAD
CA555938 rs764136045	1672	A>P		No	ClinGen ExAC gnomAD
rs764136045 CA555937	1672	A>T		No	ClinGen ExAC gnomAD
TCGA novel	1673	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA17140328 rs910444082	1675	K>M		No	ClinGen Ensembl
CA338066930 rs1166392675	1675	K>Q		No	ClinGen TOPMed gnomAD
rs1408178847 CA338066895	1677	P>R		No	ClinGen TOPMed
CA338066882 rs1371118721	1678	I>M		No	ClinGen TOPMed gnomAD
rs188510777 CA555932	1678	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA555931 rs770372437	1680	T>I		No	ClinGen ExAC gnomAD
CA338066862 rs1471069702	1680	T>P		No	ClinGen gnomAD
CA338066853 rs1295044750	1681	Q>*		No	ClinGen gnomAD
rs755282092 CA555930	1684	G>V		No	ClinGen ExAC TOPMed gnomAD
rs751350223 CA555929	1685	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1273907487 CA338066794	1686	K>E		No	ClinGen TOPMed gnomAD
rs780006802 CA555927	1686	K>I		No	ClinGen ExAC gnomAD
CA338066754 rs1348931135	1689	D>N		No	ClinGen TOPMed gnomAD
CA338066747 rs1162329591	1689	D>V		No	ClinGen gnomAD
CA555924 rs749539777	1692	G>A		No	ClinGen ExAC gnomAD
CA17140265 rs749539777	1692	G>E		No	ClinGen ExAC gnomAD
CA338066708 rs185660854	1692	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA555925 rs185660854	1692	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3805676 rs756114243 CA555922	1693	K>E	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1693	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA555921 rs200902435	1694	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1277299153 CA338066681	1694	K>R		No	ClinGen TOPMed
CA555917 rs752425317	1697	K>E		No	ClinGen ExAC gnomAD
rs1402081839 CA338066637	1697	K>R		No	ClinGen gnomAD
rs759140917 CA555915	1698	K>E		No	ClinGen ExAC TOPMed gnomAD
rs759140917 CA338066630	1698	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA555914 rs776126972	1699	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1227521432 CA338066616	1699	G>R		No	ClinGen TOPMed
rs1444720831 CA338066551	1702	K>M		No	ClinGen TOPMed
CA17140237 rs202017595	1702	K>Q		No	ClinGen gnomAD
CA338066497 rs1557536877	1704	M>T		No	ClinGen Ensembl
rs1264933429 CA338066476	1706	N>H		No	ClinGen gnomAD
COSM911226 CA338066456 rs1318894130	1708	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA555910 rs145127316	1708	A>V		No	ClinGen ESP ExAC gnomAD
rs769117837 CA555907	1710	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA338066427 rs1385585427	1710	G>V		No	ClinGen gnomAD
CA338066422 rs1288873176	1711	G>S		No	ClinGen gnomAD
CA17140204 rs375129927	1713	T>M		No	ClinGen ESP
TCGA novel	1714	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338066306 rs1373529184	1716	H>Q		No	ClinGen gnomAD
CA338066300 rs1172404265	1717	T>M		No	ClinGen gnomAD
rs754955470 CA555880	1722	E>K		No	ClinGen ExAC gnomAD
CA555879 rs753507616	1723	E>G		No	ClinGen ExAC gnomAD
CA17139922 rs1028098568	1724	R>Q		No	ClinGen TOPMed gnomAD
CA555877 rs573796175	1724	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1301069267 CA338066195	1725	A>G		No	ClinGen gnomAD
CA338066179 rs750062959	1727	V>I		No	ClinGen ExAC TOPMed gnomAD
CA555876 CA338066176 rs750062959	1727	V>L		No	ClinGen ExAC TOPMed gnomAD
CA338066163 rs1441818113	1728	S>F		No	ClinGen Ensembl
rs1315600199 CA338066167	1728	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA555874 rs761399990	1730	G>A		No	ClinGen ExAC gnomAD
CA555873 rs142975797	1731	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA17139898 rs201248560	1732	I>T		No	ClinGen TOPMed gnomAD
rs1406342900 CA338066091	1734	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA17139889 rs775681121	1735	I>N		No	ClinGen ExAC TOPMed gnomAD
CA555870 rs775681121	1735	I>S		No	ClinGen ExAC TOPMed gnomAD
rs763524984 CA555871	1735	I>V		No	ClinGen ExAC TOPMed gnomAD
CA555869 rs770217575	1736	W>R		No	ClinGen ExAC
CA555868 rs759868081	1737	H>L		No	ClinGen ExAC gnomAD
CA338066053 rs1360828017	1738	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1463998531 CA338066054	1738	R>W		No	ClinGen gnomAD
rs776805670 CA555867	1739	R>C		No	ClinGen ExAC TOPMed gnomAD
rs771211793 CA555866	1739	R>H		No	ClinGen ExAC gnomAD
rs776805670 CA338066050	1739	R>S		No	ClinGen ExAC TOPMed gnomAD
CA17139857 rs1017414532	1742	Y>S		No	ClinGen TOPMed gnomAD
CA338066001 rs747031590	1746	A>E		No	ClinGen ExAC TOPMed gnomAD
CA555865 rs747031590	1746	A>V		No	ClinGen ExAC TOPMed gnomAD
rs749269983 CA555862	1749	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA555839 rs746685685	1753	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1297262403 CA338065739	1755	R>H		No	ClinGen gnomAD
rs777340365 CA555838	1756	W>*		No	ClinGen ExAC gnomAD
CA555837 rs757896112	1756	W>C		No	ClinGen ExAC gnomAD
CA17136376 rs267598680	1760	Q>*		No	ClinGen Ensembl
TCGA novel	1760	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA17136369 rs879222785	1762	D>H		No	ClinGen Ensembl
CA17136365 rs765762799	1764	R>L		No	ClinGen ExAC TOPMed gnomAD
CA555835 rs765762799	1764	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs752217521 CA555836	1764	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA338065676 rs1571137803	1765	Y>D		No	ClinGen Ensembl
CA338065667 rs755479085	1766	M>L		No	ClinGen ExAC TOPMed gnomAD
CA555834 rs755479085	1766	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1768	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA555833 rs754161216	1769	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1381174395 CA338065643	1769	N>S		No	ClinGen TOPMed
CA555831 rs761076818	1770	E>K		No	ClinGen ExAC TOPMed gnomAD
rs773387477 CA555830	1771	P>L		No	ClinGen ExAC gnomAD
rs1399808132 CA338065600	1775	E>D		No	ClinGen TOPMed
CA338065590 rs1350673323	1777	H>Y		No	ClinGen Ensembl
CA338065571 rs1487874350	1779	G>V		No	ClinGen gnomAD
CA338065561 rs1360575891	1781	Y>H		No	ClinGen TOPMed
TCGA novel	1783	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1571137759 CA338065520	1786	N>S		No	ClinGen Ensembl
rs1466962190 CA338065512	1787	K>R		No	ClinGen gnomAD
CA338065485 rs1232676436	1791	R>H		No	ClinGen gnomAD
rs750731381 CA555794	1798	Q>P		No	ClinGen ExAC gnomAD
CA338065333 rs1166555488	1799	A>S		No	ClinGen gnomAD
rs574274586 CA555791	1800	L>S		No	ClinGen 1000Genomes ExAC gnomAD
CA555788 rs752883486	1807	R>Q		No	ClinGen ExAC gnomAD
CA555789 rs762238932	1807	R>W		No	ClinGen ExAC TOPMed gnomAD
CA338065143 rs1247364207	1809	A>S		No	ClinGen gnomAD
rs376526371 CA555786	1810	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1370468031 CA338065063	1813	N>I		No	ClinGen gnomAD
CA555783 rs761707043	1814	M>V		No	ClinGen ExAC gnomAD
rs573215215 CA555782	1815	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1571137253 CA338064972	1817	D>A		No	ClinGen Ensembl
TCGA novel	1819	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1819	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA555776 rs373083783	1822	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA338064800 rs1392018286	1825	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA338064786 rs1295813824	1826	N>D		No	ClinGen TOPMed
CA338064778 rs1298395512	1826	N>I		No	ClinGen gnomAD
rs778128816 CA338064753	1827	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778128816 CA555773	1827	A>T		No	ClinGen ExAC TOPMed gnomAD
CA338064744 rs1158047658	1827	A>V		No	ClinGen gnomAD
CA555771 rs775830653	1828	R>C		No	ClinGen ExAC gnomAD
CA555770 rs765427175	1828	R>H		No	ClinGen ExAC TOPMed gnomAD
CA338064701 rs1557535609	1830	A>S		No	ClinGen Ensembl
CA338064530 rs1451692059	1841	H>Q		No	ClinGen TOPMed
CA338064498 rs1489513792	1845	E>K		No	ClinGen gnomAD
rs761495028 CA555766	1847	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	1850	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774141281 CA555765	1854	N>Y		No	ClinGen ExAC gnomAD
rs762621807 CA338064374	1856	V>F		No	ClinGen ExAC TOPMed gnomAD
CA555763 rs762621807	1856	V>I	Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1278512323 CA338064359	1858	H>Q		No	ClinGen gnomAD
rs1377503976 CA338063908	1863	Q>*		No	ClinGen gnomAD
rs1027830535 CA17133686	1864	L>M		No	ClinGen Ensembl
CA17133683 rs944088931	1866	E>Q		No	ClinGen TOPMed gnomAD
rs1370579254 CA338063802	1869	S>N		No	ClinGen gnomAD
rs1444357332 CA338063786	1870	D>N		No	ClinGen gnomAD
rs1239367714 CA338063748	1871	M>T		No	ClinGen gnomAD
rs759234296 CA555723	1874	D>N		No	ClinGen ExAC gnomAD
rs765938870 CA555721 COSM1200983	1875	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA555720 rs760299084	1876	T>I		No	ClinGen ExAC gnomAD
rs947205115 CA17133632	1877	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA338063586 rs1354124889 COSM319434	1881	M>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs773847893 CA555719	1884	R>C		No	ClinGen ExAC TOPMed gnomAD
rs867977204 CA17133608	1884	R>H		No	ClinGen gnomAD
rs991361795 CA17133605	1886	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs928253921	1887	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1571134343 CA338063527	1888	V>M		No	ClinGen Ensembl
CA555713 rs374719409	1890	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA555714 rs374719409	1890	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA555712 rs769836156	1890	A>V		No	ClinGen ExAC gnomAD
CA555711 rs371741094	1891	R>W		No	ClinGen ESP ExAC gnomAD
rs1198902244 CA338063470	1897	R>C		No	ClinGen TOPMed gnomAD
rs752426937 CA555708	1897	R>H		No	ClinGen ExAC gnomAD
CA555707 rs778802930	1898	S>R		No	ClinGen ExAC gnomAD
rs766011316 CA555705	1902	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs760245748 CA555703	1902	R>H		No	ClinGen ExAC gnomAD
CA555704 rs766011316	1902	R>S		No	ClinGen ExAC gnomAD
COSM1470350 CA338063416 rs1349809904	1906	R>C	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1296476872 CA338063415	1906	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA17133441 rs1054235000	1907	A>S		No	ClinGen TOPMed
CA338063412 rs1054235000	1907	A>T		No	ClinGen TOPMed
rs1332890670 CA338063405	1908	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs762439778 CA555700	1909	D>N		No	ClinGen ExAC gnomAD
rs1399498229 CA338063383	1911	T>I		No	ClinGen gnomAD
TCGA novel	1914	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769041071 CA555697	1914	Q>L		No	ClinGen ExAC gnomAD
rs1430570449 CA338063305	1915	G>C		No	ClinGen TOPMed
TCGA novel	1915	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759789009 CA555675	1916	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1336616863 CA338063290	1916	A>V		No	ClinGen gnomAD
CA555673 rs142351712	1917	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs776646330 CA555674	1917	F>L		No	ClinGen ExAC gnomAD
CA555671 rs145030669	1918	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA17133250 rs145030669	1918	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1919	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338063257 rs1284687290	1920	S>P		No	ClinGen TOPMed
CA338063254 rs1226449269	1920	S>Y		No	ClinGen TOPMed
rs1414282727 CA338063242	1921	Q>R		No	ClinGen gnomAD
CA338063226 rs1442511434	1922	M>I		No	ClinGen gnomAD
CA338063228 rs1164737709	1922	M>T		No	ClinGen TOPMed gnomAD
rs749040881 CA17133241	1925	N>K		No	ClinGen ExAC TOPMed gnomAD
rs768487764 CA555670	1925	N>T		No	ClinGen ExAC gnomAD
CA555668 rs780025382	1926	N>Y		No	ClinGen ExAC gnomAD
TCGA novel	1927	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338063172 rs1571134104	1927	F>L		No	ClinGen Ensembl
rs1240034197 CA338063169	1927	F>S		No	ClinGen gnomAD
CA338063162 rs1392975056	1928	G>E		No	ClinGen TOPMed
CA338063154 rs1571134089	1929	P>L		No	ClinGen Ensembl
rs139445002 CA555667	1930	N>K		No	ClinGen ESP ExAC TOPMed
CA555666 rs745492594	1931	F>C		No	ClinGen ExAC TOPMed gnomAD
rs1469509787 CA338063140	1931	F>L		No	ClinGen TOPMed
CA338063139 rs1437416058	1932	R>G		No	ClinGen gnomAD
CA338063136 rs1291078347	1932	R>Q		No	ClinGen TOPMed gnomAD
CA338063138 rs1437416058	1932	R>W		No	ClinGen gnomAD
TCGA novel	1933	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1357718660 CA338063129	1933	G>V		No	ClinGen gnomAD
rs756789409 CA555664	1934	P>S		No	ClinGen ExAC TOPMed gnomAD
rs764604388 CA555662	1936	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1937	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1350148741 CA338063099	1939	I>V		No	ClinGen TOPMed gnomAD
rs1557533262 CA338063091	1940	V>F		No	ClinGen Ensembl
rs201561264 CA17133179	1942	Y>*		No	ClinGen 1000Genomes gnomAD
rs753070352 CA555660	1944	Q>*		No	ClinGen ExAC TOPMed
rs1159186065 CA338063062	1944	Q>R		No	ClinGen TOPMed gnomAD
rs1571134032 CA338063049	1945	M>I		No	ClinGen Ensembl
rs547857724 CA555659	1945	M>K		No	ClinGen 1000Genomes ExAC gnomAD
rs759946382 CA555658	1946	P>S		No	ClinGen ExAC TOPMed gnomAD
CA555657 rs538801025	1948	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA555656 rs538801025	1948	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA338062999 rs1469666593	1950	Y>C		No	ClinGen gnomAD
rs1211684632 COSM4144111 CA338062911	1953	D>G	thyroid Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA555654 rs773165192	1953	D>N		No	ClinGen ExAC TOPMed gnomAD
CA555617 rs767845383	1954	I>M		No	ClinGen ExAC TOPMed gnomAD
rs560129253 CA555618	1954	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1444606812 CA338062902	1954	I>V		No	ClinGen gnomAD
rs1201275951 CA338062891	1955	I>Q		No	ClinGen gnomAD
rs761969552 CA555615	1955	I>W		No	ClinGen ExAC gnomAD

2 associated diseases with Q8TDI0

[MIM: 619873]: Parenti-Mignot neurodevelopmental syndrome (PMNDS)

An autosomal dominant neurodevelopmental disorder characterized by intellectual disability, speech delay, motor delay, behavioral problems, and epilepsy. {ECO:0000269|PubMed:33944996}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant neurodevelopmental disorder characterized by intellectual disability, speech delay, motor delay, behavioral problems, and epilepsy. {ECO:0000269|PubMed:33944996}. Note=The disease is caused by variants affecting the gene represented in this entry.

17 regional properties for Q8TDI0

Type	Name	Position	InterPro Accession
domain	SNF2, N-terminal	719 - 998	IPR000330
domain	Chromo/chromo shadow domain	466 - 554	IPR000953-1
domain	Chromo/chromo shadow domain	590 - 646	IPR000953-2
domain	Helicase, C-terminal	1026 - 1193	IPR001650
domain	Zinc finger, PHD-type	345 - 388	IPR001965-1
domain	Zinc finger, PHD-type	418 - 461	IPR001965-2
conserved_site	DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site	842 - 851	IPR002464
domain	CHD subfamily II, SANT-like domain	1372 - 1531	IPR009462
domain	Domain of unknown function DUF1087	1295 - 1359	IPR009463
domain	CHD, C-terminal 2	1733 - 1878	IPR012957
domain	CHD, N-terminal	150 - 200	IPR012958
domain	Helicase superfamily 1/2, ATP-binding domain	696 - 908	IPR014001
conserved_site	Zinc finger, PHD-type, conserved site	346 - 387	IPR019786
domain	Zinc finger, PHD-finger	343 - 390	IPR019787-1
domain	Zinc finger, PHD-finger	416 - 463	IPR019787-2
domain	Chromo domain	593 - 631	IPR023780
domain	Chromodomain-helicase-DNA-binding protein 5, DEAH-box helicase domain	700 - 931	IPR028727

Functions

		Description
EC Number	3.6.4.12	Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization	Nucleus Chromosome
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
heterochromatin	A compact and highly condensed form of chromatin that is refractory to transcription.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
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.
NuRD complex	An approximately 2 MDa multi-subunit complex that exhibits ATP-dependent chromatin remodeling activity in addition to histone deacetylase (HDAC) activity, and has been shown to establish transcriptional repression of a number of target genes in vertebrates, invertebrates and fungi. Amongst its subunits, the NuRD complex contains histone deacetylases, histone binding proteins and Mi-2-like proteins.

9 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
ATP-dependent chromatin remodeler activity	An activity, driven by ATP hydrolysis, that modulates the contacts between histones and DNA, resulting in a change in chromosome architecture within the nucleosomal array, leading to chromatin remodeling.
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA helicase activity	Unwinding of a DNA helix, driven by ATP hydrolysis.
H3K27me3 modified histone binding	Binding to a histone H3 in which the lysine residue at position 27 has been modified by trimethylation.
histone binding	Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription.
metal ion binding	Binding to a metal ion.

8 GO annotations of biological process

Name	Definition
cerebral cortex neuron differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neuron residing in the cerebral cortex.
chromatin remodeling	A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication.
histone H3-K27 trimethylation	The modification of histone H3 by addition of three methyl groups to lysine at position 27 of the histone.
histone H4 acetylation	The modification of histone H4 by the addition of an acetyl group.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
positive regulation of signal transduction by p53 class mediator	Any process that activates or increases the frequency, rate or extent of signal transduction by p53 class mediator.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O16102	Chd3	Chromodomain-helicase-DNA-binding protein 3	Drosophila melanogaster (Fruit fly)	PR
O14646	CHD1	Chromodomain-helicase-DNA-binding protein 1	Homo sapiens (Human)	PR
Q12873	CHD3	Chromodomain-helicase-DNA-binding protein 3	Homo sapiens (Human)	PR
Q14839	CHD4	Chromodomain-helicase-DNA-binding protein 4	Homo sapiens (Human)	PR
A2A8L1	Chd5	Chromodomain-helicase-DNA-binding protein 5	Mus musculus (Mouse)	PR
Q6PDQ2	Chd4	Chromodomain-helicase-DNA-binding protein 4	Mus musculus (Mouse)	PR
D3ZD32	Chd5	Chromodomain-helicase-DNA-binding protein 5	Rattus norvegicus (Rat)	PR
Q22516	chd-3	Chromodomain-helicase-DNA-binding protein 3 homolog	Caenorhabditis elegans	PR

10	20	30	40	50	60
MRGPVGTEEE	LPRLFAEEME	NEDEMSEEED	GGLEAFDDFF	PVEPVSLPKK	KKPKKLKENK
70	80	90	100	110	120
CKGKRKKKEG	SNDELSENEE	DLEEKSESEG	SDYSPNKKKK	KKLKDKKEKK	AKRKKKDEDE
130	140	150	160	170	180
DDNDDGCLKE	PKSSGQLMAE	WGLDDVDYLF	SEEDYHTLTN	YKAFSQFLRP	LIAKKNPKIP
190	200	210	220	230	240
MSKMMTVLGA	KWREFSANNP	FKGSSAAAAA	AAVAAAVETV	TISPPLAVSP	PQVPQPVPIR
250	260	270	280	290	300
KAKTKEGKGP	GVRKKIKGSK	DGKKKGKGKK	TAGLKFRFGG	ISNKRKKGSS	SEEDEREESD
310	320	330	340	350	360
FDSASIHSAS	VRSECSAALG	KKSKRRRKKK	RIDDGDGYET	DHQDYCEVCQ	QGGEIILCDT
370	380	390	400	410	420
CPRAYHLVCL	DPELEKAPEG	KWSCPHCEKE	GIQWEPKDDD	DEEEEGGCEE	EEDDHMEFCR
430	440	450	460	470	480
VCKDGGELLC	CDACPSSYHL	HCLNPPLPEI	PNGEWLCPRC	TCPPLKGKVQ	RILHWRWTEP
490	500	510	520	530	540
PAPFMVGLPG	PDVEPSLPPP	KPLEGIPERE	FFVKWAGLSY	WHCSWVKELQ	LELYHTVMYR
550	560	570	580	590	600
NYQRKNDMDE	PPPFDYGSGD	EDGKSEKRKN	KDPLYAKMEE	RFYRYGIKPE	WMMIHRILNH
610	620	630	640	650	660
SFDKKGDVHY	LIKWKDLPYD	QCTWEIDDID	IPYYDNLKQA	YWGHRELMLG	EDTRLPKRLL
670	680	690	700	710	720
KKGKKLRDDK	QEKPPDTPIV	DPTVKFDKQP	WYIDSTGGTL	HPYQLEGLNW	LRFSWAQGTD
730	740	750	760	770	780
TILADEMGLG	KTVQTIVFLY	SLYKEGHSKG	PYLVSAPLST	IINWEREFEM	WAPDFYVVTY
790	800	810	820	830	840
TGDKESRSVI	RENEFSFEDN	AIRSGKKVFR	MKKEVQIKFH	VLLTSYELIT	IDQAILGSIE
850	860	870	880	890	900
WACLVVDEAH	RLKNNQSKFF	RVLNSYKIDY	KLLLTGTPLQ	NNLEELFHLL	NFLTPERFNN
910	920	930	940	950	960
LEGFLEEFAD	ISKEDQIKKL	HDLLGPHMLR	RLKADVFKNM	PAKTELIVRV	ELSQMQKKYY
970	980	990	1000	1010	1020
KFILTRNFEA	LNSKGGGNQV	SLLNIMMDLK	KCCNHPYLFP	VAAVEAPVLP	NGSYDGSSLV
1030	1040	1050	1060	1070	1080
KSSGKLMLLQ	KMLKKLRDEG	HRVLIFSQMT	KMLDLLEDFL	EYEGYKYERI	DGGITGGLRQ
1090	1100	1110	1120	1130	1140
EAIDRFNAPG	AQQFCFLLST	RAGGLGINLA	TADTVIIYDS	DWNPHNDIQA	FSRAHRIGQN
1150	1160	1170	1180	1190	1200
KKVMIYRFVT	RASVEERITQ	VAKRKMMLTH	LVVRPGLGSK	SGSMTKQELD	DILKFGTEEL
1210	1220	1230	1240	1250	1260
FKDDVEGMMS	QGQRPVTPIP	DVQSSKGGNL	AASAKKKHGS	TPPGDNKDVE	DSSVIHYDDA
1270	1280	1290	1300	1310	1320
AISKLLDRNQ	DATDDTELQN	MNEYLSSFKV	AQYVVREEDG	VEEVEREIIK	QEENVDPDYW
1330	1340	1350	1360	1370	1380
EKLLRHHYEQ	QQEDLARNLG	KGKRIRKQVN	YNDASQEDQE	WQDELSDNQS	EYSIGSEDED
1390	1400	1410	1420	1430	1440
EDFEERPEGQ	SGRRQSRRQL	KSDRDKPLPP	LLARVGGNIE	VLGFNARQRK	AFLNAIMRWG
1450	1460	1470	1480	1490	1500
MPPQDAFNSH	WLVRDLRGKS	EKEFRAYVSL	FMRHLCEPGA	DGAETFADGV	PREGLSRQHV
1510	1520	1530	1540	1550	1560
LTRIGVMSLV	RKKVQEFEHV	NGKYSTPDLI	PEGPEGKKSG	EVISSDPNTP	VPASPAHLLP
1570	1580	1590	1600	1610	1620
APLGLPDKME	AQLGYMDEKD	PGAQKPRQPL	EVQALPAALD	RVESEDKHES	PASKERAREE
1630	1640	1650	1660	1670	1680
RPEETEKAPP	SPEQLPREEV	LPEKEKILDK	LELSLIHSRG	DSSELRPDDT	KAEEKEPIET
1690	1700	1710	1720	1730	1740
QQNGDKEEDD	EGKKEDKKGK	FKFMFNIADG	GFTELHTLWQ	NEERAAVSSG	KIYDIWHRRH
1750	1760	1770	1780	1790	1800
DYWLLAGIVT	HGYARWQDIQ	NDPRYMILNE	PFKSEVHKGN	YLEMKNKFLA	RRFKLLEQAL
1810	1820	1830	1840	1850	1860
VIEEQLRRAA	YLNMTQDPNH	PAMALNARLA	EVECLAESHQ	HLSKESLAGN	KPANAVLHKV
1870	1880	1890	1900	1910	1920
LNQLEELLSD	MKADVTRLPS	MLSRIPPVAA	RLQMSERSIL	SRLTNRAGDP	TIQQGAFGSS
1930	1940	1950
QMYSNNFGPN	FRGPGPGGIV	NYNQMPLGPY	VTDI