AiPD: Autoinhibited Protein Database

Q8WWZ4

Gene name	ABCA10
Protein name	ATP-binding cassette sub-family A member 10
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10349
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

330-412 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

330-412 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q8WWZ4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8WWZ4-F1	Predicted				AlphaFoldDB

1258 variants for Q8WWZ4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1598127104 CA400847745	2	N>D		No	ClinGen Ensembl
CA8736508 rs774995396	2	N>S		No	ClinGen ExAC TOPMed gnomAD
rs771698188 CA8736507	3	K>Q		No	ClinGen ExAC
CA400847682 rs1211148800	4	M>I		No	ClinGen TOPMed
rs1568075932 CA400847688	4	M>T		No	ClinGen Ensembl
CA400847696 rs1349049226	4	M>V		No	ClinGen TOPMed
rs1282087002 CA400847669	5	A>T		No	ClinGen TOPMed
CA400847630 rs745423957	7	A>P		No	ClinGen ExAC gnomAD
rs745423957 COSM273813 CA8736506	7	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8736505 rs774118949	8	S>Y		No	ClinGen ExAC gnomAD
CA400847578 rs1484387918	9	F>L		No	ClinGen TOPMed
CA8736502 rs377485674	10	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs377485674 CA8736501	10	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA293372325 rs968671781	11	K>R		No	ClinGen gnomAD
CA400847519 rs968671781	11	K>T		No	ClinGen gnomAD
CA400846636 rs1266225265	13	R>*		No	ClinGen gnomAD
CA400846613 rs1299330186	14	T>I		No	ClinGen TOPMed
rs549258473 CA8736482	16	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769462634 CA8736481	17	G>E		No	ClinGen ExAC gnomAD
TCGA novel	17	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293371723 rs919798353	18	T>I		No	ClinGen TOPMed
rs1306871720 CA400846526	19	P>L		No	ClinGen gnomAD
CA293371721 rs780686943	19	P>T		No	ClinGen Ensembl
CA400846503 rs1353063829	21	E>K		No	ClinGen gnomAD
rs375468801 CA8736479	25	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA400846353 rs1223180972	26	I>T		No	ClinGen gnomAD
rs1343702339 CA627589096	28	L>E*		No	ClinGen gnomAD
rs781075574 CA8736478	29	P>Q		No	ClinGen ExAC gnomAD
CA293371716 rs755601061	30	K>E		No	ClinGen TOPMed gnomAD
CA8736476 rs768609670	32	Y>*		No	ClinGen ExAC gnomAD
rs1169176337 CA400846098	33	H>R		No	ClinGen TOPMed
CA400846002 rs745896096 CA8736475 CA400845999	35	M>I		No	ClinGen ExAC TOPMed gnomAD
rs143204065 CA8736474	37	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1200974958 CA400845921	39	I>T		No	ClinGen TOPMed gnomAD
rs1426505709 CA400845928	39	I>V		No	ClinGen gnomAD
rs1478286621 CA400845914	40	F>L		No	ClinGen gnomAD
TCGA novel	40	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598125359 CA400845850	42	D>V		No	ClinGen Ensembl
CA8736471 rs146505509	43	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs966666905 CA293371706	46	Y>C		No	ClinGen Ensembl
rs753139797 CA8736469 COSM140799	47	R>C	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8736468 rs149568652	47	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA400845693 rs1203264003	48	L>V		No	ClinGen gnomAD
CA8736466 rs751049755	52	W>R		No	ClinGen ExAC gnomAD
CA8736465 rs765984221	54	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs138123654 CA293371699	55	R>G		No	ClinGen ESP gnomAD
CA8736464 rs367712051	56	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA400845493 rs76677177	57	P>A		No	ClinGen gnomAD
TCGA novel	57	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs76677177 CA293371695	57	P>T		No	ClinGen gnomAD
rs772715913 CA400845459	58	V>F		No	ClinGen ExAC gnomAD
rs772715913 CA8736463	58	V>I		No	ClinGen ExAC gnomAD
CA8736461 rs761474461	59	I>M		No	ClinGen ExAC gnomAD
CA400845421 rs1177916737	59	I>T		No	ClinGen gnomAD
CA293371692 rs1034230750	59	I>V		No	ClinGen gnomAD
CA8736460 rs776430100	60	K>R		No	ClinGen ExAC gnomAD
CA8736459 rs768519349	61	E>K		No	ClinGen ExAC gnomAD
rs746952034 CA8736458	63	S>F		No	ClinGen ExAC gnomAD
TCGA novel	67	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs140906904 CA8736431	67	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769842003 CA400845029	69	C>R		No	ClinGen ExAC TOPMed gnomAD
rs769842003 CA8736430	69	C>S		No	ClinGen ExAC TOPMed gnomAD
CA293371517 rs553321163	70	W>*		No	ClinGen Ensembl
TCGA novel	71	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400844947 rs1411099160	72	M>I		No	ClinGen gnomAD
rs1362810033 CA400844952	72	M>T		No	ClinGen TOPMed
CA8736429 rs748376146	72	M>V		No	ClinGen ExAC gnomAD
rs151007615 CA8736428	73	H>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400844934 rs151007615	73	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1424906263 CA400844937	73	H>Y		No	ClinGen TOPMed
CA293371514 rs766905151	74	G>D		No	ClinGen TOPMed gnomAD
CA400844889 rs1369913523	76	I>F		No	ClinGen TOPMed gnomAD
rs145490579 CA8736427	76	I>M		No	ClinGen ESP ExAC
CA400844890 rs1369913523	76	I>V		No	ClinGen TOPMed gnomAD
CA8736426 rs140328156	79	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA8736425 rs780383781	80	L>*		No	ClinGen ExAC TOPMed
rs749841082 CA8736423	81	A>E		No	ClinGen ExAC gnomAD
rs749841082 CA8736424	81	A>G		No	ClinGen ExAC gnomAD
rs1341227295 CA400844758	82	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA400844741 rs776028682 CA400844744	82	K>N		No	ClinGen ExAC TOPMed gnomAD
rs756825563 CA8736421	83	Y>C		No	ClinGen ExAC gnomAD
CA400844696 rs114438868	85	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8736420 rs114438868	85	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1266341075 CA400844676	87	G>R		No	ClinGen gnomAD
rs760424871 CA8736418	88	F>I		No	ClinGen ExAC TOPMed gnomAD
rs201021667 CA8736417	90	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3932708 rs767303792 CA8736416	92	Q>E	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
CA400844612 rs1304388769	93	A>T		No	ClinGen gnomAD
rs1029498136 CA293371496	93	A>V		No	ClinGen TOPMed
CA400844580 rs1257380337	96	N>S		No	ClinGen TOPMed
CA400844552 rs1350569152	99	I>V		No	ClinGen gnomAD
CA8736414 rs774221869	100	I>K		No	ClinGen ExAC gnomAD
rs769906732 CA8736413	101	E>D		No	ClinGen ExAC TOPMed gnomAD
CA293371492 rs892575518	101	E>V		No	ClinGen Ensembl
rs753380282 CA8736403	105	N>D		No	ClinGen ExAC TOPMed gnomAD
rs777358364 CA8736402	105	N>S		No	ClinGen ExAC gnomAD
rs1211997788 CA400843850	106	H>R		No	ClinGen TOPMed
rs1165787046 CA400843834	107	S>Y		No	ClinGen TOPMed gnomAD
CA400843826 rs1568073673	108	V>I		No	ClinGen Ensembl
rs752372699 CA8736400	109	M>T		No	ClinGen ExAC gnomAD
CA293371093 rs759444713	109	M>V		No	ClinGen Ensembl
CA400843800 rs1598123586	110	E>*		No	ClinGen Ensembl
rs1425578032 CA400843790 COSM1521881	110	E>D	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs767340348 CA8736399	113	T>I		No	ClinGen ExAC gnomAD
TCGA novel	114	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1174313771 CA400843747	114	S>T		No	ClinGen gnomAD
CA8736397 rs751494497	116	I>T		No	ClinGen ExAC gnomAD
rs766268259 CA8736396	117	G>R		No	ClinGen ExAC gnomAD
rs761943029 CA8736395	120	M>V		No	ClinGen ExAC gnomAD
rs768941992 CA8736393	121	K>N		No	ClinGen ExAC gnomAD
rs776870907 CA8736394	121	K>T		No	ClinGen ExAC gnomAD
rs1411689020 CA400843650	122	I>M		No	ClinGen gnomAD
rs528175758 CA8736392	123	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400843627 rs1379541456	124	P>L		No	ClinGen TOPMed
CA293371082 rs886287595	126	I>F		No	ClinGen TOPMed gnomAD
CA400843600 rs1262090834	126	I>T		No	ClinGen TOPMed gnomAD
CA8736391 rs143231882	127	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs772466216 CA8736390	128	K>N		No	ClinGen ExAC gnomAD
CA8736389 rs746264056	129	G>A		No	ClinGen ExAC gnomAD
rs1226520287 CA400843547	130	E>D		No	ClinGen gnomAD
TCGA novel	131	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1435580496 CA400843519	132	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8736388 rs779438571	132	M>R		No	ClinGen ExAC TOPMed gnomAD
rs779438571 CA400843521	132	M>T		No	ClinGen ExAC TOPMed gnomAD
CA400843529 rs1324628434	132	M>V		No	ClinGen gnomAD
TCGA novel CA293371076 rs866415794	135	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
rs771453035 CA8736387	137	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1402925864 CA400843405	140	C>Y		No	ClinGen gnomAD
rs1167426152 CA400843391	141	L>S		No	ClinGen TOPMed gnomAD
rs777272556 CA8736385	142	V>D		No	ClinGen ExAC gnomAD
CA8736383 rs147313154	144	F>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8736380 rs560140321	148	I>L		No	ClinGen ExAC TOPMed gnomAD
rs751341544 CA8736378	148	I>M		No	ClinGen ExAC gnomAD
CA8736381 rs560140321	148	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	149	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400843165 rs1194753283	150	F>C		No	ClinGen gnomAD
CA8736377 rs766368586	150	F>L		No	ClinGen ExAC TOPMed gnomAD
rs144869395 CA8736374	157	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA293371055 rs976400953	158	E>D		No	ClinGen TOPMed gnomAD
CA8736372 rs775756407	158	E>K		No	ClinGen ExAC gnomAD
rs776740985 CA293371053	160	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA400842877 rs1389712391	161	K>T		No	ClinGen TOPMed gnomAD
rs200831625 CA8736370	167	T>A		No	ClinGen ExAC TOPMed gnomAD
CA400842683 rs1383697661	169	M>I		No	ClinGen gnomAD
rs139433241 CA8736367	172	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	172	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749795819 CA8736366	172	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs866486757 CA293371045	174	S>L		No	ClinGen TOPMed
CA400841402 rs1348284648	178	L>V		No	ClinGen TOPMed gnomAD
rs1440485857 COSM1710703 CA400841360	180	W>*	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
CA400841350 rs1286056919	181	G>E		No	ClinGen TOPMed
TCGA novel	186	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8736343 rs747642794	186	C>Y		No	ClinGen ExAC gnomAD
CA400841231 rs1598121678	187	F>V		No	ClinGen Ensembl
rs1283376638 CA400841213	188	I>T		No	ClinGen gnomAD
rs1233334255 CA400841219	188	I>V		No	ClinGen TOPMed
CA8736341 rs776016554	191	M>I		No	ClinGen ExAC TOPMed gnomAD
CA293370397 rs372720119	192	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
TCGA novel	194	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768287060 CA8736339	195	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1365630259 CA400841096	197	L>V		No	ClinGen gnomAD
rs1277096197 CA400841064	199	I>M		No	ClinGen gnomAD
CA8736338 rs756957072	200	T>I		No	ClinGen ExAC TOPMed gnomAD
rs779906670 CA8736337	201	S>P		No	ClinGen ExAC TOPMed gnomAD
CA8736336 rs758242618	202	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1179821278 CA400841009	202	I>V		No	ClinGen TOPMed
rs9909216 CA8736335	203	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA293370382 rs912698920	203	P>L		No	ClinGen TOPMed
CA8736334 rs9909216 VAR_028384	203	P>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA400840988 rs9909216	203	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8736331 rs147277109	204	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8736332 rs188500748	204	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8736329 rs141867184	207	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8736327 rs763265411	208	T>A		No	ClinGen ExAC gnomAD
rs1241246384 CA400840890	208	T>I		No	ClinGen gnomAD
CA400840898 rs763265411	208	T>P		No	ClinGen ExAC gnomAD
TCGA novel	209	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8736325 rs765715700	210	F>S		No	ClinGen ExAC TOPMed gnomAD
CA400840860 rs1203326028	211	M>L		No	ClinGen gnomAD
rs146540010 CA8736324	214	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764923931 CA8736322	217	Y>*		No	ClinGen ExAC gnomAD
rs777261524 CA8736323	217	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8736320 rs576357865	221	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1366437764 CA400840565	223	S>P		No	ClinGen TOPMed gnomAD
CA8736299 rs775160042	225	I>L		No	ClinGen ExAC gnomAD
rs771786010 CA8736298	226	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1568072187 CA400840374	228	A>S		No	ClinGen Ensembl
rs1465277184 CA400840339	230	L>F		No	ClinGen TOPMed
CA8736297 rs759260421	230	L>P		No	ClinGen ExAC TOPMed gnomAD
COSM460249 rs1319795239 CA400840322	231	M>I	cervix [Cosmic]	No	ClinGen cosmic curated TOPMed
rs148511872 CA8736296	231	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8736295 rs148511872	231	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	232	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400840192 rs769018347	238	P>A		No	ClinGen gnomAD
CA293370306 rs769018347	238	P>S		No	ClinGen gnomAD
rs143678315 CA8736294	239	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1311418518 CA400840154	240	L>P		No	ClinGen TOPMed
CA400840151 rs769746647	241	A>P		No	ClinGen ExAC TOPMed gnomAD
CA8736292 rs769746647	241	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8736291 rs564915997	242	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA8736289 rs758539124	244	A>S		No	ClinGen ExAC gnomAD
rs750629521 CA8736288	246	F>L		No	ClinGen ExAC TOPMed gnomAD
CA8736287 rs779243607	250	V>I		No	ClinGen ExAC TOPMed gnomAD
rs757527688 CA8736286	251	F>V		No	ClinGen ExAC gnomAD
rs1349329870 CA400840034	252	W>R		No	ClinGen gnomAD
CA8736285 rs754257823	253	G>E		No	ClinGen ExAC gnomAD
CA400839999 rs1470248871	254	C>S		No	ClinGen TOPMed
CA400840000 rs1470248871	254	C>Y		No	ClinGen TOPMed
rs764457387 CA8736284	258	T>I		No	ClinGen ExAC TOPMed gnomAD
CA400839931 rs1371124332	259	V>L		No	ClinGen gnomAD
CA400839915 rs1568072141	260	L>S		No	ClinGen Ensembl
CA8736282 rs11077414	261	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8736283 rs761270643	261	Y>H		No	ClinGen ExAC gnomAD
rs373465608 CA8736280	262	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1190145491 CA400839876	263	Q>*		No	ClinGen gnomAD
CA8736278 rs770648790	265	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8736279 rs773844188	265	P>S		No	ClinGen ExAC TOPMed gnomAD
CA293370289 rs958185295	269	G>R		No	ClinGen Ensembl
CA8736275 rs138150328	271	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs138150328 CA8736276 CA400839742	271	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1291748383 CA400839685	274	L>P		No	ClinGen TOPMed
rs77944357 CA8736272	277	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772117276 CA8736271	278	F>S		No	ClinGen ExAC gnomAD
TCGA novel	279	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8736270 rs745996528	281	T>P		No	ClinGen ExAC gnomAD
rs778959668 CA8736269	284	M>I		No	ClinGen ExAC gnomAD
CA8736268 rs757519373	286	Q>*		No	ClinGen ExAC gnomAD
rs11657804 CA400839385	287	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_028385 rs11657804 CA8736252	287	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8736251 rs201412320	288	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA8736250 rs138635717	289	H>Y		No	ClinGen ESP ExAC gnomAD
CA293370114 rs199693351	290	L>V		No	ClinGen 1000Genomes gnomAD
CA8736249 rs770989783	291	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs369442837 CA8736248	292	N>D		No	ClinGen ESP ExAC gnomAD
CA8736247 rs778190408	296	G>S		No	ClinGen ExAC gnomAD
CA400839239 rs1321123831	296	G>V		No	ClinGen TOPMed
TCGA novel	298	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756516297 CA8736246	301	D>V		No	ClinGen ExAC gnomAD
CA293370109 rs760376571	303	S>A		No	ClinGen Ensembl
rs949532091 CA293370107	303	S>F		No	ClinGen TOPMed
CA400839150 rs1448032238	305	D>N		No	ClinGen gnomAD
CA293370105 rs78810588	307	Y>*		No	ClinGen TOPMed gnomAD
rs896612280 CA293370102	313	F>C		No	ClinGen Ensembl
rs771346448	314	F>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs748559641 CA8736242	317	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA400839002 rs1235609769	318	F>L		No	ClinGen TOPMed
CA400838953 rs1198265411	320	T>A		No	ClinGen gnomAD
rs1198265411 CA400838951	320	T>S		No	ClinGen gnomAD
CA400838932 rs1256490588	321	L>V		No	ClinGen gnomAD
CA8736241 rs781747831	323	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA293370096 rs781747831	323	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA400838891 rs1227642150	323	Y>H		No	ClinGen gnomAD
TCGA novel	323	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1187821210 CA400838839	326	F>L		No	ClinGen Ensembl
CA293370094 rs1056894822	326	F>L		No	ClinGen Ensembl
CA8736240 rs755526594	326	F>S		No	ClinGen ExAC gnomAD
rs750969924 CA8736239	327	T>R		No	ClinGen ExAC gnomAD
rs1397837302 CA400838779	329	Y>C		No	ClinGen gnomAD
TCGA novel	330	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1403074494 CA400838743	331	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8736236 rs200246933	332	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs200246933 CA8736235	332	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs150115601 CA8736234	332	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400835699 rs1180853539	338	D>G		No	ClinGen gnomAD
CA8736218 rs780471829	338	D>N		No	ClinGen ExAC gnomAD
CA400835686 rs1471545633	339	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA293364334 rs916762942	340	H>P		No	ClinGen Ensembl
rs1253860156 CA400835679	340	H>Y		No	ClinGen TOPMed gnomAD
rs1450816916 CA400835644	342	D>E		No	ClinGen TOPMed gnomAD
TCGA novel	344	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293364327 rs918367919	345	L>*		No	ClinGen TOPMed gnomAD
CA8736216 rs140802240	348	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8736215 rs140802240	348	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1265967112 CA400835548	350	S>Y		No	ClinGen TOPMed
CA293364322 rs1056604171	351	S>L		No	ClinGen Ensembl
TCGA novel	352	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8736214 rs554262102	353	W>C		No	ClinGen 1000Genomes ExAC gnomAD
CA293364321 rs377502008	354	S>T		No	ClinGen Ensembl
rs753562346 CA8736213	356	H>N		No	ClinGen ExAC gnomAD
rs150955739 CA8736212	357	Q>R		No	ClinGen ESP ExAC gnomAD
CA293364286 rs938430560	358	N>S		No	ClinGen Ensembl
CA400835427 rs777225232	359	T>I		No	ClinGen gnomAD
CA293364276 rs777225232	359	T>N		No	ClinGen gnomAD
CA400835420 rs1436476004	360	H>D		No	ClinGen gnomAD
CA8736210 rs752649574	361	H>L		No	ClinGen ExAC gnomAD
rs190061096 CA400835404	361	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs190061096 CA8736211	361	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8736209 rs375302182	362	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1388100227 CA400835386	362	E>V		No	ClinGen gnomAD
CA400835377 rs1412815437	363	I>L		No	ClinGen TOPMed
CA400835356 rs1394800325	364	F>S		No	ClinGen gnomAD
TCGA novel	365	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400835297 rs1229314699 COSM707454	368	I>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs928399996 CA293364269	372	H>N		No	ClinGen Ensembl
rs111796360 CA8736207	372	H>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs111796360 CA8736208	372	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8736206 rs770077240	374	S>C		No	ClinGen ExAC gnomAD
CA293364264 rs951012917	377	S>T		No	ClinGen Ensembl
rs1462336954 CA400835168	377	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs146677382 CA8736205	378	F>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8736202 rs754390363	380	P>L		No	ClinGen ExAC TOPMed gnomAD
rs532088283 CA8736203	380	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs532088283 CA8736204	380	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766856480 CA8736200	381	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA400835104 rs766856480	381	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8736198 rs148818168	383	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs756825645 CA293364235	384	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs756825645 CA8736197	384	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	385	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777332199 CA8736195	387	G>E		No	ClinGen ExAC gnomAD
CA400834992 rs1291774015	387	G>R		No	ClinGen TOPMed
TCGA novel	389	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755899419 CA8736194	389	E>K		No	ClinGen ExAC gnomAD
CA8736192 rs767436060	390	A>G		No	ClinGen ExAC gnomAD
rs752458581 CA8736193	390	A>S		No	ClinGen ExAC gnomAD
CA400833617 rs1353641139	394	R>K		No	ClinGen TOPMed
rs530797309 CA8736174	397	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA8736172 rs754880408	398	K>E		No	ClinGen ExAC gnomAD
COSM1181190 rs1568065104 CA400833493	399	E>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
COSM3958694 rs1471849562 CA400833388	402	G>*	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	402	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766456533 CA8736170	404	T>A		No	ClinGen ExAC TOPMed gnomAD
rs766456533 CA8736169	404	T>P		No	ClinGen ExAC TOPMed gnomAD
rs753881525 CA8736167	407	V>A		No	ClinGen ExAC gnomAD
CA400833208 rs1272885561	408	E>K		No	ClinGen gnomAD
rs764319900 CA8736166	411	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs772059657 CA400832286	412	G>A		No	ClinGen ExAC gnomAD
CA8736115 rs772059657	412	G>D		No	ClinGen ExAC gnomAD
rs760811449 CA8736165	412	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA400832285 rs772059657	412	G>V		No	ClinGen ExAC gnomAD
rs368769556 CA8736113	413	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs550893558 CA8736112	414	F>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	415	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400832262 rs1185728774	416	D>Y		No	ClinGen TOPMed
rs533423661 CA8736110	417	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs998027990 CA293358768	417	I>T		No	ClinGen Ensembl
rs533423661 CA8736111	417	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147962946 CA8736109	418	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1598107829 CA400832232	419	E>*		No	ClinGen Ensembl
CA400832190 rs1280724608	422	I>T		No	ClinGen gnomAD
TCGA novel	423	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751850043 CA8736108	424	A>V		No	ClinGen ExAC TOPMed gnomAD
CA400832161 rs1228513835	425	I>V		No	ClinGen gnomAD
CA293358753 rs868583290	427	G>E		No	ClinGen Ensembl
CA8736106 rs763426843	428	H>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	433	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776289485 CA8736102	434	S>*		No	ClinGen ExAC TOPMed gnomAD
rs761176136 CA8736103	434	S>P		No	ClinGen ExAC gnomAD
CA8736101 rs140673111	435	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140932709 CA8736100	438	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1568063815 CA400831983	439	I>V		No	ClinGen Ensembl
TCGA novel	442	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8736099 rs775340389	442	G>R		No	ClinGen ExAC gnomAD
CA400831930 rs1185196044	442	G>V		No	ClinGen gnomAD
CA8736098 rs147311261	443	L>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA400831904 rs200155538	444	S>C		No	ClinGen TOPMed
CA293358707 rs200155538	444	S>F		No	ClinGen TOPMed
CA400831887 rs1389571333	445	V>G		No	ClinGen gnomAD
rs969467319 CA400831866	446	S>C		No	ClinGen TOPMed
rs969467319 CA293358699	446	S>F		No	ClinGen TOPMed
rs745714928 CA8736096	447	T>I		No	ClinGen ExAC TOPMed gnomAD
CA293358697 rs927928447	449	G>R		No	ClinGen Ensembl
CA8736073 COSM3820393 rs111474594	450	S>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1006184607 CA293358469	450	S>P		No	ClinGen TOPMed gnomAD
rs888333870 CA293358463	452	T>A		No	ClinGen TOPMed gnomAD
CA400831170 rs1598107533	453	I>F		No	ClinGen Ensembl
rs942228173 CA293358450	454	Y>H		No	ClinGen Ensembl
TCGA novel	456	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1479920 CA400831035 rs1232958056	457	Q>*	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs143395978 CA8736068	458	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400830940 rs1442653168	462	T>S		No	ClinGen gnomAD
CA8736064 rs757619884	463	D>A		No	ClinGen ExAC gnomAD
rs779327397 CA8736065	463	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8736063 rs754375360	464	M>R		No	ClinGen ExAC gnomAD
TCGA novel	465	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400830889 rs1325699463	465	E>G		No	ClinGen TOPMed
rs764736598 COSM1385564 CA8736062	465	E>K	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1436904147 CA400830841	467	I>N		No	ClinGen TOPMed
CA8736061 rs755644044	471	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	472	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767013494 CA8736059	474	C>R		No	ClinGen ExAC TOPMed gnomAD
CA8736058 rs759222119	478	N>S		No	ClinGen ExAC TOPMed gnomAD
CA293358369 rs866595174	480	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA400830573 rs1452592142	482	D>Y		No	ClinGen TOPMed
rs766178889 CA8736056	483	F>L		No	ClinGen ExAC TOPMed gnomAD
rs773934080 CA8736057	483	F>S		No	ClinGen ExAC gnomAD
CA8736055 rs370624717	485	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8736054 rs773096533	486	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1198070126 CA400830502	487	R>G		No	ClinGen TOPMed
CA8736053 rs769742320	488	E>G		No	ClinGen ExAC gnomAD
CA8736052 rs747031272	489	N>D		No	ClinGen ExAC TOPMed gnomAD
CA400830447 rs775639759	489	N>K		No	ClinGen ExAC
CA400830432 rs1473277334	491	R>G		No	ClinGen TOPMed
rs772107514 CA8736049	491	R>K		No	ClinGen ExAC TOPMed gnomAD
rs746088738 CA8736048	492	V>A		No	ClinGen ExAC gnomAD
rs1269281444 CA400830419	492	V>L		No	ClinGen gnomAD
rs1318814475 CA400830393 COSM473277	493	F>Y	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs376201256 CA8736046	494	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs370023019 CA8736044	500	Q>R		No	ClinGen ESP ExAC gnomAD
rs1002327245 CA293358277	503	E>A		No	ClinGen Ensembl
CA400830215 rs1325223723	504	V>G		No	ClinGen TOPMed
rs377036240 CA8736040	506	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs377036240 CA293358274	506	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA400830184 rs1344740521	506	Q>R		No	ClinGen gnomAD
CA8736019 rs537347023	508	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537347023 CA8736018	508	V>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779621291 CA8736017	510	R>G		No	ClinGen ExAC TOPMed gnomAD
CA400830004 rs1296261807	512	I>K		No	ClinGen gnomAD
CA400830011 rs1173902674	512	I>V		No	ClinGen Ensembl
rs1355304640 CA400829987	513	M>T		No	ClinGen gnomAD
rs1250392420 CA400829930	516	D>G		No	ClinGen TOPMed
CA400829908 rs1325550162	517	M>T		No	ClinGen gnomAD
rs957937239 CA293358047	519	S>G		No	ClinGen Ensembl
CA8736014 rs750141181	521	Q>*		No	ClinGen ExAC gnomAD
rs1166209246 CA400829704	523	I>M		No	ClinGen gnomAD
rs1272279625 CA400829679	524	I>S		No	ClinGen Ensembl
CA8736013 rs765000753	525	A>T		No	ClinGen ExAC gnomAD
CA293358013 rs1033544472	526	K>I		No	ClinGen Ensembl
TCGA novel	526	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	527	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8736010 rs576212414	527	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA8736008 rs774300123	529	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1212761498 CA400829538	529	S>N		No	ClinGen gnomAD
rs1460775009 CA400829477	531	G>E		No	ClinGen TOPMed
rs773618883 CA8736005	532	Q>*		No	ClinGen ExAC
rs1316303724 CA400829414	534	R>K		No	ClinGen gnomAD
rs376004282 CA8736004	535	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA400829313 rs1373871740	538	L>V		No	ClinGen gnomAD
TCGA novel	539	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1325392794 CA400829302	539	G>R		No	ClinGen gnomAD
rs1438999017 CA400829259	540	I>T		No	ClinGen gnomAD
CA400829239 rs1396722653	541	A>T		No	ClinGen gnomAD
CA400829188 rs1192805429	543	L>S		No	ClinGen TOPMed
CA8736001 rs769060235	546	P>A		No	ClinGen ExAC TOPMed
rs746458679 CA400829073	546	P>H		No	ClinGen ExAC TOPMed gnomAD
rs746458679 CA8736000	546	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779531356 CA8735999	547	Q>R		No	ClinGen ExAC gnomAD
CA400828795 rs1427338443	550	L>R		No	ClinGen gnomAD
CA400828690 rs1486170495	553	E>*		No	ClinGen gnomAD
CA400828682 rs1191389515	553	E>G		No	ClinGen gnomAD
CA400828693 rs1486170495	553	E>Q		No	ClinGen gnomAD
rs966092215 CA293357717	554	P>A		No	ClinGen TOPMed
CA8735978 rs756872426	554	P>Q		No	ClinGen ExAC gnomAD
CA8735977 rs374670778	555	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA400828622 rs374670778	555	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA400828607 rs1281306089	556	A>P		No	ClinGen gnomAD
rs1226978418 CA400828599	556	A>V		No	ClinGen TOPMed gnomAD
CA400828581 rs201976695	557	G>E		No	ClinGen TOPMed gnomAD
CA293357701 rs201976695	557	G>V		No	ClinGen TOPMed gnomAD
rs752652282 CA8735974	559	D>V		No	ClinGen ExAC gnomAD
CA8735972 rs758505167	560	P>L		No	ClinGen ExAC TOPMed gnomAD
CA400828512 rs767597130	560	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8735973 rs767597130	560	P>T		No	ClinGen ExAC TOPMed gnomAD
CA293357633 rs745885609	565	R>*		No	ClinGen ExAC TOPMed gnomAD
CA8735968 rs776965436	565	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764341136 CA8735967	566	V>A		No	ClinGen ExAC gnomAD
rs1410116167 CA400828316	568	S>N		No	ClinGen TOPMed
CA400828249 rs1185795768	572	E>V		No	ClinGen gnomAD
rs1486494368 CA400828232	573	H>R		No	ClinGen TOPMed gnomAD
CA8735964 rs75656517 COSM304836	577	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs546114873 CA400828146	577	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA400828153 rs546114873	577	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8735963 rs546114873	577	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA293357587 rs1029221433	579	I>T		No	ClinGen Ensembl
rs367746608 CA8735962	580	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1365659649 CA400828084	582	S>R		No	ClinGen TOPMed
CA400828067 rs1228220648	582	S>T		No	ClinGen gnomAD
CA8735961 rs770534152	583	T>N		No	ClinGen ExAC gnomAD
TCGA novel	589	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777524266 CA8735958	590	D>Y		No	ClinGen ExAC gnomAD
rs767944610 CA8735945	594	D>E		No	ClinGen ExAC gnomAD
rs1462601291 CA400827559	596	K>R		No	ClinGen gnomAD
rs774972875 CA8735943	597	V>I		No	ClinGen ExAC TOPMed gnomAD
rs770317351 CA8735942	599	L>R		No	ClinGen ExAC gnomAD
rs1408249585 CA400827507	599	L>V		No	ClinGen TOPMed
rs1328817542 CA400827490	600	S>C		No	ClinGen TOPMed
CA400827458 rs1176422460	602	G>E		No	ClinGen TOPMed gnomAD
CA8735941 rs762558498	606	C>R		No	ClinGen ExAC TOPMed gnomAD
CA400827408 rs1179438451	606	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA400827386 rs1197976186	608	G>E		No	ClinGen gnomAD
rs772693513 CA8735940	610	S>A		No	ClinGen ExAC gnomAD
rs1254529209 CA400827364	611	L>S		No	ClinGen TOPMed gnomAD
rs200188638 CA8735939	615	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM2156566 rs138792982 CA8735938	615	R>Q	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs781133755 CA8735937	617	W>L		No	ClinGen ExAC TOPMed gnomAD
CA400827270 rs1284173209	617	W>R		No	ClinGen gnomAD
CA8735936 rs768625493	618	G>S		No	ClinGen ExAC TOPMed gnomAD
rs966341796 CA293357056	618	G>V		No	ClinGen gnomAD
rs1240373508 CA400827161	620	G>V		No	ClinGen gnomAD
CA400827084 rs1369751165	624	S>G		No	ClinGen gnomAD
CA8735912 rs749258616	625	L>F		No	ClinGen ExAC TOPMed gnomAD
CA293356189 rs1000247229	626	H>R		No	ClinGen TOPMed
rs904527961 CA293356187	627	R>G		No	ClinGen Ensembl
CA8735911 rs777903690	628	N>H		No	ClinGen ExAC gnomAD
rs756235673 CA8735910	628	N>S		No	ClinGen ExAC gnomAD
rs1044417067 CA293356184	629	E>K		No	ClinGen Ensembl
CA8735909 rs748340007	630	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1271908141 CA400825808	632	D>E		No	ClinGen gnomAD
rs1555660878 CA400825772	633	T>I		No	ClinGen Ensembl
rs755289185 CA8735905	635	K>R		No	ClinGen ExAC gnomAD
rs751969405 CA8735904	636	I>F		No	ClinGen ExAC gnomAD
rs766732572 CA8735902	637	T>I		No	ClinGen ExAC gnomAD
rs750953631 CA8735900	639	L>F		No	ClinGen ExAC gnomAD
CA293356121 rs940214639	640	I>F		No	ClinGen Ensembl
rs940214639 CA400825576	640	I>L		No	ClinGen Ensembl
rs866503298 CA293356115	641	K>*		No	ClinGen Ensembl
rs1327175373 CA400825547	641	K>N		No	ClinGen gnomAD
CA400825496 rs1180373750	644	I>T		No	ClinGen TOPMed gnomAD
CA8735898 rs761444939	644	I>V		No	ClinGen ExAC TOPMed gnomAD
CA400825467 rs1474526108	645	P>L		No	ClinGen TOPMed gnomAD
CA8735897 rs776380111	645	P>S		No	ClinGen ExAC TOPMed gnomAD
rs377397041 CA8735895	647	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs377397041 CA8735896	647	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1157649519 CA400825415	648	K>E		No	ClinGen TOPMed
rs1182782445 CA400825324	650	T>A		No	ClinGen gnomAD
CA8735894 rs775357911	656	K>E		No	ClinGen ExAC gnomAD
TCGA novel	656	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1568062269 CA400825093	657	L>F		No	ClinGen Ensembl
CA400825085 rs1365701605	658	V>L		No	ClinGen TOPMed
CA400825037 rs1598105857	660	S>N		No	ClinGen Ensembl
CA8735892 rs138284687	663	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1391769176 CA400824955	664	E>K		No	ClinGen TOPMed
COSM3717565 rs774312801 CA8735890	666	T>M	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs748250405 CA8735888	667	N>D		No	ClinGen ExAC gnomAD
rs781335134 CA8735887	668	K>R		No	ClinGen ExAC gnomAD
CA8735885 rs747265320	671	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1160789622 CA400824740	674	S>G		No	ClinGen TOPMed gnomAD
rs548145232 CA8735863	676	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs548145232 CA8735862	676	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs146275289 CA8735861	677	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8735860 rs146275289	677	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA400824659 rs1338226678	680	S>F		No	ClinGen TOPMed
rs755628879 COSM3820389 CA8735859	681	D>N	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs752354953 CA8735858	681	D>V		No	ClinGen ExAC TOPMed gnomAD
rs767099448 CA8735857	682	Q>R		No	ClinGen ExAC gnomAD
rs1342225621 CA400824627	683	G>D		No	ClinGen TOPMed
TCGA novel	683	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8735856 rs759319737	684	I>V		No	ClinGen ExAC TOPMed gnomAD
CA293355578 rs113700970	687	Y>C		No	ClinGen gnomAD
rs1568061970 CA400824570	688	A>S		No	ClinGen Ensembl
TCGA novel	688	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1250596214 CA400824563	688	A>V		No	ClinGen TOPMed
TCGA novel	690	S>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8735853 rs571913993	691	V>M		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	692	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8735852 rs773186503	693	S>P		No	ClinGen ExAC
rs1276707545 CA400824495	696	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1189515325 CA400824477	697	V>I		No	ClinGen gnomAD
rs760696969 CA400824440	700	N>K		No	ClinGen ExAC gnomAD
CA400824429 rs1300656260	702	E>K		No	ClinGen gnomAD
CA8735849 rs141798814	703	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8735848 rs772193782	705	S>P		No	ClinGen ExAC gnomAD
CA8735847 rs147976428	709	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA293355543 rs147976428	709	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779414111 CA8735846	711	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA293351769 rs373666268	714	I>T		No	ClinGen ESP TOPMed
rs1172666413 CA400823606	714	I>V		No	ClinGen gnomAD
rs138758131 CA8735826	715	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs767705779 CA8735827	715	G>W		No	ClinGen ExAC
rs749692290 CA8735823	717	Q>R		No	ClinGen ExAC gnomAD
rs562783994 CA8735821	719	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA8735820 rs770204983	722	V>L		No	ClinGen ExAC gnomAD
CA400823507 rs770204983	722	V>M		No	ClinGen ExAC gnomAD
rs143154419 CA8735819	723	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA400823491 rs1334734775	724	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1372092302 CA400823485	724	R>T		No	ClinGen TOPMed
TCGA novel	727	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1443342116 CA400823386	730	S>T		No	ClinGen TOPMed
CA400823359 rs1247437417	731	E>V		No	ClinGen gnomAD
CA8735816 CA8735817 rs202097964	732	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA400823325 rs1312915970	733	E>V		No	ClinGen TOPMed gnomAD
CA293351712 rs981219244	735	V>A		No	ClinGen TOPMed gnomAD
rs1281716187 CA400823290	735	V>L		No	ClinGen TOPMed
TCGA novel	737	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8735812 rs139520502	738	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1161461364 CA400823232	739	L>P		No	ClinGen gnomAD
rs1459192342 CA400823217	740	P>S		No	ClinGen gnomAD
rs1181302828 CA400823197	741	E>G		No	ClinGen gnomAD
rs182459474 CA8735810	743	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400823166 rs182459474	743	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs918289567 CA293351693	743	R>S		No	ClinGen Ensembl
CA400823154 rs1215151044	744	K>E		No	ClinGen TOPMed
rs1240306616 CA400823122	747	S>G	Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1179314275 CA400823112	747	S>N		No	ClinGen gnomAD
rs1468144281 CA400823086	748	S>R		No	ClinGen TOPMed gnomAD
CA8735809 rs753872789	749	A>V		No	ClinGen ExAC TOPMed gnomAD
CA400823037 rs1568061086	752	W>R		No	ClinGen Ensembl
CA8735808 rs767473587	753	R>S		No	ClinGen ExAC TOPMed gnomAD
rs190646470 CA8735807	754	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774667106 CA400823006	754	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8735806 rs774667106	754	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1598104078 CA400822967	756	I>T		No	ClinGen Ensembl
CA400822946 rs1374167995	757	Y>C		No	ClinGen TOPMed gnomAD
CA293351646 rs985746053	757	Y>H		No	ClinGen TOPMed gnomAD
rs1568061057 CA400822905	759	V>A		No	ClinGen Ensembl
TCGA novel	759	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8735804 rs763341924	760	A>T		No	ClinGen ExAC gnomAD
TCGA novel	761	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM983576 rs200565917 CA8735803	763	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA8735802 rs200565917	763	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1369621882 CA400822804	763	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1334579957 CA400822690	767	L>S		No	ClinGen TOPMed
CA8735801 rs748577931	767	L>V		No	ClinGen ExAC TOPMed gnomAD
CA400822645 COSM3691752 rs1388474248	769	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA8735800 rs200308550	769	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM983575 CA400822656 rs1388474248	769	R>S	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	772	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747546661 CA293351616	774	L>P		No	ClinGen gnomAD
CA8735798 rs754172297	776	C>W		No	ClinGen ExAC gnomAD
rs1221357520 CA400821949	781	L>F		No	ClinGen TOPMed
rs150316122 CA8735780	783	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs150316122 CA8735781	783	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8735779 rs569877835	784	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA8735777 rs774980463	787	P>L		No	ClinGen ExAC gnomAD
CA400821831 rs1489444261	787	P>S		No	ClinGen gnomAD
CA400821732 rs1216841432	789	I>M		No	ClinGen gnomAD
rs1412045234 CA400821728	790	L>Q		No	ClinGen TOPMed gnomAD
rs1202600814 CA400821709	791	E>Q		No	ClinGen TOPMed
CA293350390 rs367916076	793	I>V		No	ClinGen ESP TOPMed gnomAD
CA8735774 rs745488102	794	M>I		No	ClinGen ExAC gnomAD
CA8735775 rs771631002	794	M>L		No	ClinGen ExAC
rs1220440876 CA400821621	794	M>T		No	ClinGen gnomAD
rs1167624016 CA400821598	795	Y>C		No	ClinGen gnomAD
rs1478472926 CA400821549	797	V>A		No	ClinGen TOPMed gnomAD
CA400821551 rs1478472926	797	V>E		No	ClinGen TOPMed gnomAD
rs374060441 CA8735773	799	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8735772 rs141143818	799	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400821483 rs1342098121	801	T>I		No	ClinGen TOPMed gnomAD
rs927658520 CA293350380	803	C>F		No	ClinGen TOPMed
CA8735770 rs777786264	803	C>R		No	ClinGen ExAC TOPMed gnomAD
CA400821429 rs1336471015	804	W>C		No	ClinGen gnomAD
CA400821398 rs147761066	805	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400821410 rs1479433900	805	E>G		No	ClinGen gnomAD
rs752738197 CA8735767	808	P>A		No	ClinGen ExAC gnomAD
CA8735765 rs528484516	809	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs574377079	809	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8735766 rs528484516	809	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765514773 CA8735763 CA293350354	810	M>I		No	ClinGen ExAC gnomAD
CA8735764 rs201614041	810	M>R		No	ClinGen ExAC TOPMed gnomAD
rs574939972 CA293350348	815	L>V		No	ClinGen Ensembl
rs1023554791 CA293350334	819	P>L		No	ClinGen gnomAD
CA8735760 rs754210336	819	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8735759 rs764511487	820	K>M		No	ClinGen ExAC gnomAD
CA8735758 rs761160403 COSM2152440	821	T>M	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1202899364 CA400821201	825	S>I		No	ClinGen TOPMed
CA293350305 rs896357043	826	L>P		No	ClinGen Ensembl
rs1452128746 CA400821186	828	I>V		No	ClinGen TOPMed
rs773827545 CA8735754	829	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8735719 rs762672011	833	G>E		No	ClinGen ExAC gnomAD
CA8735718 rs773035900	838	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1021552083 CA293348446	839	L>V		No	ClinGen gnomAD
CA8735715 CA293348407 rs188482429	840	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM2975613 CA8735716 rs188482429	840	V>M	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	844	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1284070071 CA400819574	844	K>N		No	ClinGen TOPMed gnomAD
rs980761225 CA293348398	845	C>*		No	ClinGen TOPMed
TCGA novel	846	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761410604 CA8735713	847	D>H		No	ClinGen ExAC TOPMed gnomAD
rs779039943 CA8735712	848	I>M		No	ClinGen ExAC gnomAD
CA400819474 rs1300637067	848	I>V		No	ClinGen gnomAD
CA8735711 rs376737920	849	V>L		No	ClinGen ESP ExAC TOPMed
rs749483067 CA8735710	850	L>V		No	ClinGen ExAC gnomAD
CA8735709 rs778004217	852	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8735707 rs756421738	853	D>G		No	ClinGen ExAC gnomAD
rs767835834 CA8735706	854	D>G		No	ClinGen ExAC gnomAD
CA8735705 rs767835834	854	D>V		No	ClinGen ExAC gnomAD
rs907309314 CA293348326	857	N>S		No	ClinGen gnomAD
CA8735704 rs755497127	859	N>D		No	ClinGen ExAC gnomAD
CA400818991 rs929996015	860	G>D		No	ClinGen TOPMed gnomAD
CA293348318 rs929996015	860	G>V		No	ClinGen TOPMed gnomAD
rs1276065963 CA400818967	861	S>*		No	ClinGen TOPMed
CA400818939 rs1568059191	862	D>A		No	ClinGen Ensembl
CA8735699 rs142664279	863	D>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762580186 CA8735701	863	D>N		No	ClinGen ExAC gnomAD
CA8735700 rs142664279	863	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761630214 CA8735698	865	S>A		No	ClinGen ExAC gnomAD
CA8735697 rs372114147	866	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1488725266 CA400818791	866	Y>C		No	ClinGen gnomAD
rs1208106027 CA400818728	867	N>S		No	ClinGen gnomAD
rs147741160 CA8735695	869	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA293348290 rs142938008	870	I>T		No	ClinGen ESP TOPMed
rs1005645316 CA400818571	871	I>L		No	ClinGen TOPMed gnomAD
CA293348286 rs1005645316	871	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	872	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8735693 rs771004408	874	G>S		No	ClinGen ExAC TOPMed gnomAD
rs749395115 CA8735692	876	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA293348256 rs942941803	877	K>N		No	ClinGen Ensembl
rs1598100733 CA400818171	880	R>G		No	ClinGen Ensembl
CA8735658 rs148551955	881	F>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758966651 CA8735657	882	S>F		No	ClinGen ExAC gnomAD
CA293347960 rs984317465	883	V>L		No	ClinGen TOPMed
rs751033366 CA293347954	884	A>G		No	ClinGen ExAC TOPMed gnomAD
CA400818040 rs1456553677	884	A>T		No	ClinGen TOPMed gnomAD
rs751033366 CA8735656	884	A>V		No	ClinGen ExAC TOPMed gnomAD
CA293347949 rs111507740	885	C>R		No	ClinGen Ensembl
rs756869801 CA8735654	886	N>H		No	ClinGen ExAC TOPMed gnomAD
CA293347944 rs921330231	886	N>T		No	ClinGen TOPMed
rs373707073 CA293347939	887	T>A		No	ClinGen ESP TOPMed gnomAD
rs1343146149 CA400817966	887	T>I		No	ClinGen TOPMed gnomAD
CA400817888 rs1247503687	890	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA400817864 rs1315384285	892	C>S		No	ClinGen gnomAD
rs760462302 CA8735651	894	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8735652 rs763677848	894	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1369896356 CA400817799	895	V>L		No	ClinGen TOPMed
CA8735650 rs202245343	897	M>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8735649 rs202245343	897	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8735648 rs200936103	898	G>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8735647 rs774310637	898	G>E		No	ClinGen ExAC gnomAD
CA400817683 rs1242796271	905	M>T		No	ClinGen TOPMed
rs761817857 CA8735645	905	M>V		No	ClinGen ExAC gnomAD
rs1386090246 CA400817664	906	G>E		No	ClinGen gnomAD
CA8735644 rs144740152	908	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA400817614 rs1437847208	909	N>Y		No	ClinGen gnomAD
CA8735642 rs747318337	911	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8735643 rs149787159	911	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1252321424 CA400817555	912	E>G		No	ClinGen TOPMed
rs868789065 CA293347892	912	E>K		No	ClinGen Ensembl
rs772618233 CA8735640	913	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8735639 rs746348368	914	I>V		No	ClinGen ExAC gnomAD
CA400817518 rs1291976969	915	Q>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1239004119 CA400817516	915	Q>P		No	ClinGen gnomAD
CA8735636 rs748763714	916	M>I		No	ClinGen ExAC TOPMed gnomAD
CA400817499 rs4968849	916	M>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_028386 CA8735637 rs4968849	916	M>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA400817456 rs1165839712	919	T>A		No	ClinGen TOPMed
rs777417595 CA8735635	919	T>S		No	ClinGen ExAC gnomAD
rs1321587978 CA400817391	922	S>Y		No	ClinGen gnomAD
rs202012056 CA8735634	923	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs202012056 CA8735633	923	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8735632 rs767269390	923	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1386874174 CA400815528	924	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8735615 rs780844801	925	D>G		No	ClinGen ExAC gnomAD
CA8735614 rs754707470	926	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1443665254 CA400815508	926	I>T		No	ClinGen gnomAD
CA400815512 rs1161367577	926	I>V		No	ClinGen TOPMed gnomAD
CA8735612 rs766226646	930	L>I		No	ClinGen ExAC gnomAD
CA400815473 rs1338181856	932	F>C		No	ClinGen TOPMed
rs758251669 CA8735611	932	F>L		No	ClinGen ExAC TOPMed gnomAD
rs758251669 CA400815476	932	F>V		No	ClinGen ExAC TOPMed gnomAD
rs965958500 CA293345027	933	I>T		No	ClinGen TOPMed
rs1205062437 CA400815461	934	D>G		No	ClinGen TOPMed gnomAD
CA8735609 rs764052347	934	D>H		No	ClinGen ExAC
CA400815440 rs1363825630	937	I>M		No	ClinGen gnomAD
CA8735608 rs371701745	937	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA400815437 rs1270937755	938	F>V		No	ClinGen gnomAD
CA400815425 rs1338966786	939	L>F		No	ClinGen TOPMed gnomAD
rs1447612864 CA400815428	939	L>S		No	ClinGen gnomAD
CA400815414 rs1400209072	941	L>S		No	ClinGen gnomAD
CA8735606 rs752922292	943	T>I		No	ClinGen ExAC gnomAD
CA8735605 rs142756776	944	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs142756776 CA8735604	944	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8735603 rs771386672 COSM1521889	945	C>*	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	945	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8735601 rs763337245	946	V>I		No	ClinGen ExAC TOPMed gnomAD
CA400815322 COSM1710700 rs1194553616	948	P>L	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
CA8735598 rs769137596	951	G>S		No	ClinGen ExAC TOPMed gnomAD
CA400815267 rs1480594125	952	M>I		No	ClinGen TOPMed
rs1430426742 CA400815269	952	M>R		No	ClinGen TOPMed
CA8735597 rs747669759	952	M>V		No	ClinGen ExAC gnomAD
TCGA novel	955	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8735595 rs768288281	955	I>V		No	ClinGen ExAC gnomAD
CA8735594 rs746719282	956	S>N		No	ClinGen ExAC gnomAD
rs1317518386 CA400815177	957	D>N		No	ClinGen gnomAD
TCGA novel	959	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746637225 CA8735572	961	N>H		No	ClinGen ExAC gnomAD
CA8735569 rs745692705	962	V>A		No	ClinGen ExAC gnomAD
CA8735570 rs771719497	962	V>I		No	ClinGen ExAC gnomAD
CA400814999 rs771719497	962	V>L		No	ClinGen ExAC gnomAD
CA293344620 rs778553151	963	Q>H		No	ClinGen Ensembl
rs778649223 CA8735568	965	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA8735567 rs368716488	967	W>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs74404893 CA293344615	971	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400814855 rs1223005652	971	L>P		No	ClinGen gnomAD
rs74404893 CA8735566	971	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781401100 CA8735565	972	W>R		No	ClinGen ExAC gnomAD
rs755138842 CA8735564	973	P>L		No	ClinGen ExAC gnomAD
CA400814774 rs1317604235	976	Y>C		No	ClinGen gnomAD
CA8735563 rs150584020	976	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	977	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1218010527 CA400814765	977	W>R		No	ClinGen gnomAD
CA8735561 rs758623375	978	C>Y		No	ClinGen ExAC gnomAD
rs1568055975 CA400814700	979	G>E		No	ClinGen Ensembl
rs750792766 CA8735560	984	D>H		No	ClinGen ExAC gnomAD
rs762283350 CA8735558	985	I>M		No	ClinGen ExAC TOPMed gnomAD
CA400814570 rs1481716680	985	I>V		No	ClinGen TOPMed gnomAD
CA293344597 rs985482178	987	L>*		No	ClinGen TOPMed gnomAD
CA8735556 rs763558653	988	Y>C		No	ClinGen ExAC
rs932611425 CA293344596	988	Y>H		No	ClinGen TOPMed gnomAD
rs760203838 CA8735555	989	F>Y		No	ClinGen ExAC gnomAD
rs774952832 CA8735554	992	L>F		No	ClinGen ExAC gnomAD
rs771764749 CA8735553	995	I>T		No	ClinGen ExAC TOPMed gnomAD
rs745575512 CA8735552	996	H>N		No	ClinGen ExAC gnomAD
CA8735551 rs774182983	996	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	997	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200504645 CA8735549	999	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs576202716 CA293344570	999	Y>H		No	ClinGen gnomAD
CA8735548 rs777874347	1000	Y>*		No	ClinGen ExAC gnomAD
rs1218332896 CA400814080	1002	I>M		No	ClinGen gnomAD
CA400814092 rs1264377133	1002	I>V		No	ClinGen gnomAD
rs1316462583 CA400814010	1005	G>A		No	ClinGen gnomAD
rs1568055922 CA400813988	1006	F>L		No	ClinGen Ensembl
TCGA novel	1008	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8735547 rs755049068	1010	W>R		No	ClinGen ExAC gnomAD
rs1362275384 CA400813789	1012	L>F		No	ClinGen TOPMed gnomAD
CA400813782 rs1301732040	1012	L>P		No	ClinGen gnomAD
CA8735546 rs747116006	1013	M>T		No	ClinGen ExAC gnomAD
CA293344563 rs966875372	1013	M>V		No	ClinGen Ensembl
rs780060934 CA8735545	1014	F>L		No	ClinGen ExAC gnomAD
rs1177078268 CA400813717	1014	F>S		No	ClinGen gnomAD
rs758629091 CA400813657	1016	L>F		No	ClinGen ExAC gnomAD
CA8735521 rs573384455	1017	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA400813507 rs1238864404	1018	V>I		No	ClinGen gnomAD
CA400813501 rs1238864404	1018	V>L		No	ClinGen gnomAD
CA8735518 rs753194514	1020	I>V		No	ClinGen ExAC TOPMed gnomAD
rs148025226 CA8735516	1022	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148025226 CA8735517	1022	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1389775029 CA400813328	1024	A>T		No	ClinGen gnomAD
rs1301482621 CA400813306	1025	V>L		No	ClinGen gnomAD
CA400813270 rs1426752619	1026	S>Y		No	ClinGen gnomAD
CA8735514 rs766132609	1028	I>T		No	ClinGen ExAC TOPMed gnomAD
rs751197097 CA8735515	1028	I>V		No	ClinGen ExAC TOPMed gnomAD
rs762760006 CA8735513	1029	F>L		No	ClinGen ExAC gnomAD
rs756385011 CA8735510	1032	Y>*		No	ClinGen ExAC
CA8735512 rs773127662	1032	Y>C		No	ClinGen ExAC gnomAD
rs904414009 CA293344382	1033	V>M		No	ClinGen TOPMed gnomAD
rs1183184279 CA400813075	1035	S>L		No	ClinGen gnomAD
CA400813090 rs1345949287	1035	S>P		No	ClinGen TOPMed
rs1568055760 CA400813033	1037	I>V		No	ClinGen Ensembl
rs201006015 CA8735506 COSM1385554	1039	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8735504 rs762850142	1039	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8735505 rs762850142	1039	R>L		No	ClinGen ExAC TOPMed gnomAD
rs915787685 CA293344349	1040	K>R		No	ClinGen TOPMed
rs377383921 CA8735503	1041	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA400812911 rs1178894058	1042	R>K		No	ClinGen gnomAD
rs1178894058 CA400812909	1042	R>T		No	ClinGen gnomAD
CA400812877 rs1347936827	1044	N>H		No	ClinGen gnomAD
TCGA novel	1044	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1044	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8735502 rs771142412	1045	N>S		No	ClinGen ExAC gnomAD
rs1239718307 CA400812798	1047	F>L		No	ClinGen TOPMed gnomAD
CA400812745 rs1480443460	1048	W>*		No	ClinGen TOPMed gnomAD
rs749570978 CA8735501	1048	W>L		No	ClinGen ExAC gnomAD
rs1281118770 CA400812715	1049	S>Y		No	ClinGen gnomAD
rs756476440 CA293344332	1050	F>C		No	ClinGen ExAC gnomAD
rs1297827684 CA400812691 COSM1521891	1050	F>L	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs756476440 CA8735499	1050	F>S		No	ClinGen ExAC gnomAD
CA293344323 rs767592848	1052	F>L		No	ClinGen Ensembl
CA400812643 rs1387268938	1053	F>C		No	ClinGen gnomAD
TCGA novel	1053	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1422431020 CA400812636	1054	I>N		No	ClinGen TOPMed
CA400812634 rs1422431020	1054	I>T		No	ClinGen TOPMed
CA8735472 rs764812897	1056	L>F		No	ClinGen ExAC gnomAD
CA400851767 rs1270992945	1057	I>M		No	ClinGen TOPMed gnomAD
CA400851758 rs1245261794	1059	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8735471 rs757014120	1060	S>P		No	ClinGen ExAC gnomAD
rs760584095 CA8735468	1063	M>I		No	ClinGen ExAC gnomAD
rs764012311 CA8735469	1063	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1179143583 CA400851725	1064	V>E		No	ClinGen TOPMed
rs775447163 CA8735467	1064	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs948032925 CA293361204	1066	T>N		No	ClinGen Ensembl
rs1443431531 CA400851694	1069	E>K		No	ClinGen gnomAD
rs773415317 CA8735464	1070	K>N		No	ClinGen ExAC gnomAD
TCGA novel	1070	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769901471 CA8735463	1071	L>F		No	ClinGen ExAC gnomAD
rs1445150582 CA400851674	1072	N>D		No	ClinGen gnomAD
rs1188863013 CA400851671	1072	N>S		No	ClinGen TOPMed
rs748460041 CA8735462	1073	L>S		No	ClinGen ExAC gnomAD
rs1273916238 CA400851655	1074	I>M		No	ClinGen gnomAD
CA400851660 rs1202094415	1074	I>V		No	ClinGen gnomAD
TCGA novel	1075	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8735459 rs769179102	1076	C>Y		No	ClinGen ExAC gnomAD
CA8735458 rs370439791	1077	M>V		No	ClinGen ESP ExAC gnomAD
CA400851616 rs1373243692	1078	I>F		No	ClinGen TOPMed gnomAD
CA293361186 rs916856994	1078	I>T		No	ClinGen Ensembl
CA293361180 rs992805200	1079	F>L		No	ClinGen Ensembl
CA293361179 rs1042201451	1080	I>M		No	ClinGen TOPMed
CA400851575 rs1278301958	1081	P>S		No	ClinGen gnomAD
rs1444745385 CA400851559	1082	S>F		No	ClinGen gnomAD
rs780726655 CA8735457	1083	F>L		No	ClinGen ExAC gnomAD
rs945044239 COSM376669 CA293361167	1085	L>F	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA400851506 rs1393780892	1087	G>E		No	ClinGen TOPMed
rs1423575628 CA400851495	1088	Y>C		No	ClinGen gnomAD
rs757921806 CA8735456	1088	Y>N		No	ClinGen ExAC gnomAD
TCGA novel	1089	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1357240047 CA400851470	1090	M>T		No	ClinGen TOPMed
CA8735454 rs138716621	1094	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8735452 rs138716621	1094	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8735453 rs138716621	1094	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8735451 rs755935185	1094	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA8735450 rs755935185	1094	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs772704349	1095	L>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1457952065 CA400851342	1095	L>F		No	ClinGen gnomAD
rs746448859 CA8735434	1096	D>N		No	ClinGen ExAC TOPMed gnomAD
CA400851299 rs1442606870	1098	M>L		No	ClinGen TOPMed
CA400851246 rs1568052181	1102	D>N		No	ClinGen Ensembl
rs967934866 CA293360684	1103	S>R		No	ClinGen TOPMed
rs185947290 CA8735432	1104	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8735431 rs541238978	1105	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA400851195 rs1479371793	1106	N>D		No	ClinGen gnomAD
rs572977608 CA8735430	1106	N>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1107	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8735427 rs781020863	1108	I>K		No	ClinGen ExAC gnomAD
rs1281147341 CA400851157	1109	N>H		No	ClinGen TOPMed
CA400851148 rs1348297040	1109	N>K		No	ClinGen TOPMed
rs754887385 CA8735425	1111	V>D		No	ClinGen ExAC gnomAD
CA8735424 rs369593486	1112	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs765187183 CA8735422	1118	T>A		No	ClinGen ExAC gnomAD
CA400851044 rs1386952066	1119	T>S		No	ClinGen gnomAD
rs761970757 CA8735421	1120	L>V		No	ClinGen ExAC gnomAD
CA8735419 rs764413647	1121	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8735420 rs753945392	1121	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8735397 rs564645270	1122	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8735396 rs774666757	1122	P>L		No	ClinGen ExAC gnomAD
rs564645270 CA400849650	1122	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763425427 CA8735394	1123	Y>*		No	ClinGen ExAC gnomAD
rs772684618 CA8735393	1125	Q>H		No	ClinGen ExAC gnomAD
CA8735392 rs145802388	1126	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400849616 rs1598086518	1127	V>A		No	ClinGen Ensembl
CA8735391 rs747755018	1127	V>I		No	ClinGen ExAC gnomAD
CA8735390 rs776288089	1128	I>V		No	ClinGen ExAC gnomAD
CA8735389 rs768277291	1129	F>L		No	ClinGen ExAC gnomAD
CA8735388 rs746823127	1130	L>F		No	ClinGen ExAC gnomAD
rs1568049460 CA400849571	1134	R>M		No	ClinGen Ensembl
rs1384813388 CA400849554	1137	E>Q		No	ClinGen gnomAD
rs1390585988 CA400849515	1142	N>D		No	ClinGen TOPMed gnomAD
rs1370964845 CA400849512	1142	N>S		No	ClinGen gnomAD
rs530889487 CA8735385	1145	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs374248190 CA8735384	1146	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756293426 CA8735383	1146	N>I		No	ClinGen ExAC gnomAD
CA400849478 rs1355635656	1147	K>E		No	ClinGen TOPMed
CA400849466 rs1416096952	1148	D>E		No	ClinGen TOPMed
CA8735382 rs752922359	1148	D>N		No	ClinGen ExAC gnomAD
CA400849463 rs1290887502	1149	P>A		No	ClinGen TOPMed
CA8735380 rs755234389 COSM278493	1150	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs538557529 CA8735355	1153	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs186381509 CA8735354	1156	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA293356329 rs1027915051	1156	R>W		No	ClinGen TOPMed gnomAD
rs371900427 CA8735353	1158	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs367958193 CA8735350	1159	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367958193 CA8735351	1159	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8735349 rs145419025	1160	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs774368713 CA8735346	1163	N>K		No	ClinGen ExAC gnomAD
CA8735347 rs376207962	1163	N>S		No	ClinGen ESP ExAC gnomAD
rs537530923 CA8735344	1164	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770990821 CA8735345	1164	P>S		No	ClinGen ExAC gnomAD
rs768647134 CA8735342	1166	E>G		No	ClinGen ExAC gnomAD
CA8735338 rs758695543	1167	P>H		No	ClinGen ExAC gnomAD
TCGA novel	1167	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8735339 rs780149671	1167	P>T		No	ClinGen ExAC gnomAD
CA8735336 rs150472849	1168	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs754344488 CA8735334	1168	E>G		No	ClinGen ExAC gnomAD
COSM1181189 CA8735335 rs150472849	1168	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs760125791 CA8735332	1170	E>*		No	ClinGen ExAC TOPMed gnomAD
CA8735331 rs752340707	1170	E>D		No	ClinGen ExAC gnomAD
rs760125791 CA400849324	1170	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA293356252 COSM3796009 rs140554607	1171	D>H	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed
rs1269895443 CA400849288	1175	Q>*		No	ClinGen gnomAD
CA293356203 rs201270463	1177	E>G		No	ClinGen 1000Genomes
rs202129931 CA8735328	1181	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759331823 CA8735327	1182	A>T		No	ClinGen ExAC gnomAD
rs774276987 CA8735326	1185	L>F		No	ClinGen ExAC TOPMed gnomAD
rs762940467 CA8735324	1186	T>A		No	ClinGen ExAC TOPMed gnomAD
rs78558743 CA8735323	1186	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400849215 rs1227958182	1187	A>P		No	ClinGen TOPMed
rs548067105 CA8735322	1187	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1299514517 CA400849188	1191	E>K		No	ClinGen TOPMed
rs746050593 CA8735300	1193	E>D		No	ClinGen ExAC TOPMed gnomAD
CA400848640 rs1278086622	1194	P>T		No	ClinGen gnomAD
rs1412068767 CA400848598	1197	T>A		No	ClinGen gnomAD
rs774580071 CA8735299	1198	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8735298 CA293355982 rs561157424	1199	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs749623525 CA8735297	1200	C>Y		No	ClinGen ExAC gnomAD
rs1052942425 CA293355980	1202	H>Y		No	ClinGen TOPMed
TCGA novel	1203	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778271547 CA8735296	1210	K>E		No	ClinGen ExAC gnomAD
CA8735294 rs756568298	1212	C>R		No	ClinGen ExAC gnomAD
CA400848328 rs1156592391	1212	C>Y		No	ClinGen gnomAD
rs1598085400 CA400848268	1215	T>A		No	ClinGen Ensembl
rs1470647058 CA400848263	1215	T>K		No	ClinGen Ensembl
rs936109155 CA293355971	1216	R>*		No	ClinGen TOPMed gnomAD
CA8735293 rs72853603	1216	R>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400848245 rs72853603	1216	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400848198 rs1489929679	1218	K>E		No	ClinGen gnomAD
CA8735290 rs370449985	1221	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs751195093 CA400848025	1225	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs751195093 CA8735289	1225	V>L		No	ClinGen ExAC gnomAD
CA8735288 rs766130666	1226	S>A		No	ClinGen ExAC gnomAD
rs779767657 CA8735269	1232	G>D		No	ClinGen ExAC gnomAD
CA293355911 rs943320544	1232	G>S		No	ClinGen TOPMed
rs1177113104 CA400847856	1233	E>D		No	ClinGen TOPMed gnomAD
CA8735268 rs757965219	1233	E>K		No	ClinGen ExAC
rs750128232 CA8735266	1235	L>S		No	ClinGen ExAC gnomAD
rs1394539165 CA400847838	1236	G>V		No	ClinGen gnomAD
rs753719056 CA8735263	1238	L>P		No	ClinGen ExAC gnomAD
rs760676147 CA8735261	1241	N>S		No	ClinGen ExAC gnomAD
rs1182124894 CA400847810	1241	N>Y		No	ClinGen gnomAD
CA8735260 rs200206246	1242	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400847801 rs1356909925	1242	G>V		No	ClinGen Ensembl
CA400847798 rs1470366916	1243	A>S		No	ClinGen gnomAD
rs766532619 CA8735259	1245	K>E		No	ClinGen ExAC gnomAD
rs763057090 CA8735258	1246	S>T		No	ClinGen ExAC gnomAD
rs773503109 CA8735257	1249	I>M		No	ClinGen ExAC
CA8735256 rs769993558	1251	M>I		No	ClinGen ExAC gnomAD
TCGA novel	1251	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1480249620 CA400847687	1252	I>T		No	ClinGen TOPMed
rs762268158 CA8735255	1255	C>G		No	ClinGen ExAC gnomAD
rs762268158 CA400847640	1255	C>R		No	ClinGen ExAC gnomAD
CA400847634 rs1394043104	1255	C>Y		No	ClinGen TOPMed gnomAD
rs908500288 CA400847613	1256	T>I		No	ClinGen TOPMed gnomAD
CA293355522 rs908500288	1256	T>R		No	ClinGen TOPMed gnomAD
rs375144849 CA8735253	1259	T>A		No	ClinGen ESP ExAC gnomAD
rs747568314 CA8735252	1260	A>P		No	ClinGen ExAC gnomAD
CA8735251 rs779397801	1260	A>V		No	ClinGen ExAC gnomAD
rs771642187 CA8735250	1262	V>G		No	ClinGen ExAC gnomAD
CA400847445 rs1265994874	1263	V>L		No	ClinGen gnomAD
CA400847448 rs1265994874	1263	V>M		No	ClinGen gnomAD
CA8735230 rs778354658	1265	L>V		No	ClinGen ExAC TOPMed gnomAD
CA400847404 rs1266024783	1266	Q>P		No	ClinGen gnomAD
rs777515195 CA8735227	1269	R>K		No	ClinGen ExAC gnomAD
rs781192073 CA8735224	1273	R>K		No	ClinGen ExAC gnomAD
CA8735222 rs750499120	1275	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1414690252 CA400847231	1275	Q>L		No	ClinGen TOPMed
CA400847187 rs1391236908	1278	N>H		No	ClinGen gnomAD
CA400847139 rs1315796717	1280	L>F		No	ClinGen TOPMed
rs1344221572 CA400847136	1280	L>P		No	ClinGen TOPMed
CA8735219 rs144160248	1281	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA8735220 rs757521279	1281	K>R		No	ClinGen ExAC gnomAD
CA400847110 rs1408408577	1282	F>V		No	ClinGen gnomAD
rs556543958 CA8735218	1287	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8735217 rs761135569	1288	Q>R		No	ClinGen ExAC gnomAD
CA8735216 rs775793828	1293	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs373370338 CA8735215	1295	K>R		No	ClinGen ESP ExAC gnomAD
CA8735214 rs369143410	1296	L>F		No	ClinGen ESP ExAC gnomAD
CA8735213 rs773893541	1297	T>I		No	ClinGen ExAC gnomAD
CA400846847 rs1344570287	1298	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1568048168 CA400846832	1299	K>Q		No	ClinGen Ensembl
rs1343043475 CA400846797	1301	H>Q		No	ClinGen TOPMed
CA400846790 rs1273353251	1302	L>S		No	ClinGen gnomAD
CA8735211 rs748904094	1305	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA8735210 rs772876949	1307	A>T		No	ClinGen ExAC gnomAD
CA293355201 rs937091663	1307	A>V		No	ClinGen TOPMed gnomAD
rs796080863 CA293355195	1309	K>E		No	ClinGen Ensembl
TCGA novel	1309	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs532320175 CA8735209	1309	K>R		No	ClinGen ExAC TOPMed gnomAD
CA8735207 rs376127309	1312	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8735208 rs376127309	1312	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1401028542 CA400846589	1314	E>K		No	ClinGen gnomAD
TCGA novel	1316	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8735206 rs754919048	1316	A>T		No	ClinGen ExAC gnomAD
rs1467291852 CA400846461	1318	L>V		No	ClinGen gnomAD
CA400846425 rs1377648665	1319	S>G		No	ClinGen gnomAD
rs11657280 CA8735205	1319	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA293355189 rs11657280	1319	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1423681011 CA400846372	1320	I>V		No	ClinGen TOPMed
CA400846335 rs1598084548	1321	S>L		No	ClinGen Ensembl
rs1447513653 CA400846339	1321	S>P		No	ClinGen gnomAD
CA8735202 rs72852601	1322	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs10491178 VAR_055469 CA8735203	1322	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	1323	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755324546 CA8735180	1324	V>M		No	ClinGen ExAC gnomAD
rs1474101963 CA400846062	1325	E>D		No	ClinGen TOPMed
CA8735179 rs752050480	1326	A>T		No	ClinGen ExAC gnomAD
CA8735176 rs372290702	1330	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs764764140 CA8735175	1332	Q>*		No	ClinGen ExAC gnomAD
CA8735174 rs761485868	1334	K>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1334	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768440283 CA8735172	1335	A>P		No	ClinGen ExAC gnomAD
rs768440283 CA8735173	1335	A>T		No	ClinGen ExAC gnomAD
CA8735170 rs142796433	1336	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8735171 rs142796433	1336	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1598084280 CA400845708	1337	V>G		No	ClinGen Ensembl
rs772122971 CA8735169	1338	K>E		No	ClinGen ExAC gnomAD
rs777970498 CA8735167	1339	T>A		No	ClinGen ExAC gnomAD
rs769798989 CA8735166 COSM983562	1339	T>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA400845632 rs1226768257	1341	S>*		No	ClinGen TOPMed
CA8735162 rs375730362	1343	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1346	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8735161 rs372750572	1346	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM174761 CA8735159 rs750958061	1347	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8735160 rs368825986	1347	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs145841711 CA8735140	1348	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400845301 rs1427292574	1350	F>S		No	ClinGen TOPMed gnomAD
CA400845200 rs1190891556	1353	S>I		No	ClinGen gnomAD
rs1283129220 CA400845197	1353	S>R		No	ClinGen TOPMed
CA400845190 rs1465668766	1354	I>F		No	ClinGen gnomAD
rs906931014 CA293354869	1355	L>M		No	ClinGen TOPMed
CA400845157 rs1598084134	1356	G>W		No	ClinGen Ensembl
CA8735135 rs201197046	1357	N>Y		No	ClinGen ExAC gnomAD
rs774282619 CA8735133	1358	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8735134 rs759421451	1358	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1341359064 CA400845102	1359	S>L		No	ClinGen gnomAD
CA400845089 rs1410461257	1360	V>A		No	ClinGen Ensembl
rs766209028 CA8735132	1360	V>M		No	ClinGen ExAC gnomAD
rs1446011655 CA400845045	1362	L>F		No	ClinGen gnomAD
rs768808451 CA8735128	1364	D>G		No	ClinGen ExAC gnomAD
CA8735127 rs747184545	1366	P>L		No	ClinGen ExAC TOPMed gnomAD
CA293354818 rs1026792991	1367	F>L		No	ClinGen TOPMed gnomAD
rs779392624 CA293354806 CA293354809	1369	G>R		No	ClinGen ExAC TOPMed gnomAD
rs779392624 CA8735123	1369	G>W		No	ClinGen ExAC TOPMed gnomAD
rs199596306 CA8735122	1370	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400844868 rs1271932749	1370	M>T		No	ClinGen TOPMed gnomAD
rs749842617 CA8735121	1371	D>E		No	ClinGen ExAC TOPMed gnomAD
CA8735119 rs201375015	1373	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA400844822 rs201375015	1373	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA400844795 rs1271894750	1374	G>E		No	ClinGen gnomAD
CA8735118 rs752343610	1374	G>R		No	ClinGen ExAC gnomAD
rs1237886222 CA400844777	1375	Q>H		No	ClinGen TOPMed
rs767286512 CA8735117	1377	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA8735115 rs751286341	1379	W>*		No	ClinGen ExAC gnomAD
TCGA novel	1379	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778359447 CA8735101	1381	I>T		No	ClinGen ExAC gnomAD
rs993824419 CA293354402	1383	Q>K		No	ClinGen Ensembl
CA400844059 rs1392098053	1384	A>S		No	ClinGen gnomAD
rs1459928177 CA400844048	1386	V>D		No	ClinGen gnomAD
CA8735099 rs377479549	1386	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3403159 CA8735098 rs377479549	1386	V>I	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs751253340 CA8735097	1388	N>K		No	ClinGen ExAC TOPMed gnomAD
CA8735095 rs779662457	1393	T>I		No	ClinGen ExAC gnomAD
rs1409390394 CA400843978	1396	T>I		No	ClinGen TOPMed gnomAD
CA293354380 rs200381330	1397	T>A		No	ClinGen 1000Genomes gnomAD
rs758225238 CA8735094	1397	T>I		No	ClinGen ExAC gnomAD
rs373802436 CA8735093	1398	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA400843963 rs765154142	1399	Y>C		No	ClinGen ExAC gnomAD
CA8735092 rs765154142	1399	Y>F		No	ClinGen ExAC gnomAD
rs752752058 CA8735090	1400	M>T		No	ClinGen ExAC TOPMed gnomAD
CA8735091 rs761796372	1400	M>V		No	ClinGen ExAC TOPMed gnomAD
CA293354358 rs773731325	1402	E>A		No	ClinGen Ensembl
CA8735089 rs767625300	1403	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1270310247 CA400843935	1403	A>V		No	ClinGen gnomAD
CA293354339 rs559634771	1404	E>G		No	ClinGen Ensembl
CA400843918 rs1299313700	1406	V>A		No	ClinGen gnomAD
rs774658121 CA8735087	1406	V>L		No	ClinGen ExAC gnomAD
COSM1521896 rs771145174 CA8735086	1409	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs142258568 CA8735084 COSM4130536	1409	R>H	thyroid Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs142258568 CA8735085	1409	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs142258568 CA400843881	1409	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA293354319 rs147504141	1410	M>K		No	ClinGen ESP TOPMed gnomAD
CA8735083 rs770416175	1410	M>L		No	ClinGen ExAC gnomAD
CA8735082 CA8735081 rs780806277	1412	M>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1412	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293354314 rs780806277	1412	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1385962686 CA400843827	1413	M>I		No	ClinGen gnomAD
CA400843813 rs1159978445	1414	V>A		No	ClinGen gnomAD
CA400843820 rs1470799367	1414	V>M		No	ClinGen TOPMed
rs1376518904 CA400843789	1416	G>A		No	ClinGen gnomAD
rs185824716 CA8735079	1417	T>M	Variant assessed as Somatic; 4.634e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1187678450 CA400843769	1418	L>P		No	ClinGen gnomAD
rs758053009 CA8735077	1419	R>K		No	ClinGen ExAC gnomAD
CA400843703 rs1277563754	1420	C>R		No	ClinGen gnomAD
rs1274050530 CA400843684	1421	I>T		No	ClinGen gnomAD
rs1226773523 CA400843615	1427	L>M		No	ClinGen gnomAD
rs1405468753 CA400843602	1428	K>*		No	ClinGen gnomAD
rs376126204 CA8735061	1429	N>S		No	ClinGen ESP ExAC gnomAD
rs1271135569 CA400843560	1431	F>L		No	ClinGen gnomAD
rs774920280 CA8735060	1432	G>D		No	ClinGen ExAC gnomAD
CA293354173 rs1025406158	1433	R>G		No	ClinGen gnomAD
rs1239322862 CA400843512	1434	D>G		No	ClinGen TOPMed
CA293354170 rs1021652681	1435	Y>D		No	ClinGen TOPMed gnomAD
rs898177432 CA293354155	1437	L>P		No	ClinGen TOPMed gnomAD
CA293354147 rs1009832147	1438	E>K		No	ClinGen TOPMed
rs575763000 CA8735056	1439	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA400843429 rs1490826963	1440	K>E		No	ClinGen TOPMed
rs1598083261 CA400843422	1440	K>T		No	ClinGen Ensembl
CA400843411 rs1220110484	1441	M>K		No	ClinGen TOPMed
CA8735054 rs780644191	1442	K>E		No	ClinGen ExAC gnomAD
CA400843335 rs1472369882	1444	P>H		No	ClinGen gnomAD
rs1419395649 CA400843357	1444	P>T		No	ClinGen TOPMed
rs1362277863 CA400843330	1445	T>A		No	ClinGen TOPMed
CA293354135 rs1016596604	1445	T>I		No	ClinGen gnomAD
CA400843331 rs1362277863	1445	T>P		No	ClinGen TOPMed
rs1007243570 CA293354132	1446	Q>*		No	ClinGen TOPMed
rs777694937 CA8735053	1446	Q>H		No	ClinGen ExAC gnomAD
CA400843278 rs1251097041	1447	V>G		No	ClinGen gnomAD
CA400843286 rs756076937	1447	V>L		No	ClinGen ExAC TOPMed gnomAD
rs756076937 CA8735052	1447	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1448	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400843251 rs1423325519	1449	A>D		No	ClinGen TOPMed
rs766423195 CA8735050	1452	T>A		No	ClinGen ExAC gnomAD
CA8735049 rs149018700	1453	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA400843187 rs149018700	1453	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8735048 rs750693543	1457	L>F		No	ClinGen ExAC TOPMed gnomAD
rs765637298 CA8735047	1459	P>L		No	ClinGen ExAC gnomAD
rs1172062757 CA400842977	1460	Q>R		No	ClinGen gnomAD
rs762270168 CA8735045	1461	A>T		No	ClinGen ExAC gnomAD
rs543737896 CA8735043	1462	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs543737896 CA8735044	1462	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1404725532 CA400842895	1463	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs761134927 CA8735042	1463	W>S		No	ClinGen ExAC gnomAD
TCGA novel	1465	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775034224 CA8735041	1466	R>I		No	ClinGen ExAC gnomAD
rs137945891 CA8735025	1466	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400842082 rs1255504378	1469	S>F		No	ClinGen gnomAD
rs766984483 CA8735023	1471	M>V		No	ClinGen ExAC TOPMed gnomAD
rs145861761 CA8735022	1472	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA400842047 rs1213151138	1472	A>V		No	ClinGen TOPMed gnomAD
rs762629964 CA8735019	1473	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1598081901 CA400842031	1474	K>E		No	ClinGen Ensembl
CA8735018 rs541297154	1474	K>M		No	ClinGen 1000Genomes ExAC gnomAD
CA8735017 rs146955823	1476	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1476	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8735014 CA8735013 rs146584632	1477	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs146584632 CA8735015	1477	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs779175416 CA8735012	1478	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8735011 rs757531482	1479	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1453611474 CA400841978	1479	D>Y		No	ClinGen TOPMed
rs754029639 CA8735010	1481	H>L		No	ClinGen ExAC TOPMed
CA400841938 rs1373754331	1482	P>L		No	ClinGen gnomAD
CA293353123 rs1053507594	1483	L>P		No	ClinGen Ensembl
CA400841917 rs1333573673	1485	R>Q		No	ClinGen gnomAD
CA8735008 rs141260911	1485	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400841912 rs1432988425	1486	A>T		No	ClinGen gnomAD
CA8735007 rs753188967	1487	F>V		No	ClinGen ExAC gnomAD
rs760099810 CA8735005	1488	F>S		No	ClinGen ExAC gnomAD
CA8735006 rs767895174	1488	F>V		No	ClinGen ExAC gnomAD
CA400841814 rs1188662546	1491	E>D		No	ClinGen gnomAD
rs762539015	1492	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1486639926 CA400841807	1492	A>S		No	ClinGen gnomAD
CA8735003 rs765919520	1492	A>V		No	ClinGen ExAC TOPMed gnomAD
rs752079517 CA8734985	1494	K>*		No	ClinGen ExAC TOPMed gnomAD
rs757921337 CA8734983	1498	N>I		No	ClinGen ExAC TOPMed gnomAD
CA400841572 rs757921337	1498	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8734982 rs772477692	1499	L>V		No	ClinGen ExAC TOPMed gnomAD
CA400841552 rs1293979006	1500	E>*		No	ClinGen gnomAD
rs1409349652 CA400841543	1500	E>G		No	ClinGen gnomAD
CA8734979 rs776270200	1502	Y>C		No	ClinGen ExAC gnomAD
rs554993405 CA8734980	1502	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs764004725 CA8734978	1504	L>V		No	ClinGen ExAC gnomAD
rs3842375 RCV000455195	1506	Q>missing		No	ClinVar dbSNP
TCGA novel	1506	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400841436 rs184549175	1507	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8734976 rs184549175	1507	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1191491678 CA400841012	1512	V>I		No	ClinGen TOPMed gnomAD
CA400841008 rs1191491678	1512	V>L		No	ClinGen TOPMed gnomAD
CA8734948 rs776855686	1517	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1394628293 CA400840896	1517	C>Y		No	ClinGen TOPMed
CA400840845 rs1442435164	1520	Q>R		No	ClinGen TOPMed
CA8734946 rs768928197	1521	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8734944 rs780439909	1523	G>E		No	ClinGen ExAC gnomAD
rs1370201602 CA400840756	1525	V>G		No	ClinGen TOPMed
TCGA novel	1526	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400840738 rs1239933875 COSM344587	1526	D>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1312105710 CA400840707	1528	K>E		No	ClinGen gnomAD
CA400840692 COSM1385544 rs1301941581	1528	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	1528	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1529	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400840657 rs1568046085	1530	D>G		No	ClinGen Ensembl
CA8734943 rs758811477	1531	T>K		No	ClinGen ExAC gnomAD
TCGA novel	1534	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1290823576 CA400840561	1535	W>*		No	ClinGen TOPMed
rs375323266 CA293352494	1535	W>R		No	ClinGen ESP TOPMed gnomAD
CA8734941 rs187802376	1536	K>*		No	ClinGen 1000Genomes ExAC gnomAD
rs756795824 CA8734940	1537	L>F		No	ClinGen ExAC TOPMed
rs1382413442 CA400840527	1537	L>R		No	ClinGen gnomAD
rs756795824 CA400840534	1537	L>V		No	ClinGen ExAC TOPMed
CA400840495 rs1211935821	1539	P>L		No	ClinGen TOPMed
CA400840485 rs1394371988	1540	Q>R		No	ClinGen gnomAD
rs755895861 CA8734937	1543	P>A		No	ClinGen ExAC TOPMed gnomAD
CA400840419 rs1192290000	1544	P>Y		No	ClinGen gnomAD

No associated diseases with Q8WWZ4

2 regional properties for Q8WWZ4

Type	Name	Position	InterPro Accession
domain	ABC1 atypical kinase-like domain	93 - 343	IPR004147
domain	UbiB domain, bacteria	93 - 343	IPR045308

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.

4 GO annotations of molecular function

Name	Definition
ABC-type transporter activity	Primary active transporter characterized by two nucleotide-binding domains and two transmembrane domains. Uses the energy generated from ATP hydrolysis to drive the transport of a substance across a membrane.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATPase-coupled transmembrane transporter activity	Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source.
lipid transporter activity	Enables the directed movement of lipids into, out of or within a cell, or between cells.

1 GO annotations of biological process

Name	Definition
lipid transport	The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P78363	ABCA4	Retinal-specific phospholipid-transporting ATPase ABCA4	Homo sapiens (Human)	PR
Q8IUA7	ABCA9	ATP-binding cassette sub-family A member 9	Homo sapiens (Human)	PR
Q8N139	ABCA6	ATP-binding cassette sub-family A member 6	Homo sapiens (Human)	PR
Q8WWZ7	ABCA5	Cholesterol transporter ABCA5	Homo sapiens (Human)	PR
Q86UK0	ABCA12	Glucosylceramide transporter ABCA12	Homo sapiens (Human)	PR
Q8K442	Abca8a	ABC-type organic anion transporter ABCA8A	Mus musculus (Mouse)	PR
Q8K448	Abca5	Cholesterol transporter ABCA5	Mus musculus (Mouse)	PR
Q8K449	Abca9	ATP-binding cassette sub-family A member 9	Mus musculus (Mouse)	PR
P34358	ced-7	ABC transporter ced-7	Caenorhabditis elegans	PR
Q84K47	ABCA2	ABC transporter A family member 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FKF2	ABCA11	ABC transporter A family member 11	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FLT5	ABCA9	ABC transporter A family member 9	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MNKMALASFM	KGRTVIGTPD	EETMDIELPK	KYHEMVGVIF	SDTFSYRLKF	NWGYRIPVIK
70	80	90	100	110	120
EHSEYTEHCW	AMHGEIFCYL	AKYWLKGFVA	FQAAINAAII	EVTTNHSVME	ELTSVIGINM
130	140	150	160	170	180
KIPPFISKGE	IMNEWFHFTC	LVSFSSFIYF	ASLNVARERG	KFKKLMTVMG	LRESAFWLSW
190	200	210	220	230	240
GLTYICFIFI	MSIFMALVIT	SIPIVFHTGF	MVIFTLYSLY	GLSLIALAFL	MSVLIRKPML
250	260	270	280	290	300
AGLAGFLFTV	FWGCLGFTVL	YRQLPLSLGW	VLSLLSPFAF	TAGMAQITHL	DNYLSGVIFP
310	320	330	340	350	360
DPSGDSYKMI	ATFFILAFDT	LFYLIFTLYF	ERVLPDKDGH	GDSPLFFLKS	SFWSKHQNTH
370	380	390	400	410	420
HEIFENEINP	EHSSDDSFEP	VSPEFHGKEA	IRIRNVIKEY	NGKTGKVEAL	QGIFFDIYEG
430	440	450	460	470	480
QITAILGHNG	AGKSTLLNIL	SGLSVSTEGS	ATIYNTQLSE	ITDMEEIRKN	IGFCPQFNFQ
490	500	510	520	530	540
FDFLTVRENL	RVFAKIKGIQ	PKEVEQEVKR	IIMELDMQSI	QDIIAKKLSG	GQKRKLTLGI
550	560	570	580	590	600
AILGDPQVLL	LDEPTAGLDP	FSRHRVWSLL	KEHKVDRLIL	FSTQFMDEAD	ILADRKVFLS
610	620	630	640	650	660
NGKLKCAGSS	LFLKRKWGIG	YHLSLHRNEM	CDTEKITSLI	KQHIPDAKLT	TESEEKLVYS
670	680	690	700	710	720
LPLEKTNKFP	DLYSDLDKCS	DQGIRNYAVS	VTSLNEVFLN	LEGKSAIDEP	DFDIGKQEKI
730	740	750	760	770	780
HVTRNTGDES	EMEQVLCSLP	ETRKAVSSAA	LWRRQIYAVA	TLRFLKLRRE	RRALLCLLLV
790	800	810	820	830	840
LGIAFIPIIL	EKIMYKVTRE	THCWEFSPSM	YFLSLEQIPK	TPLTSLLIVN	NTGSNIEDLV
850	860	870	880	890	900
HSLKCQDIVL	EIDDFRNRNG	SDDPSYNGAI	IVSGDQKDYR	FSVACNTKKL	NCFPVLMGIV
910	920	930	940	950	960
SNALMGIFNF	TELIQMESTS	FSRDDIVLDL	GFIDGSIFLL	LITNCVSPFI	GMSSISDYKK
970	980	990	1000	1010	1020
NVQSQLWISG	LWPSAYWCGQ	ALVDIPLYFL	ILFSIHLIYY	FIFLGFQLSW	ELMFVLVVCI
1030	1040	1050	1060	1070	1080
IGCAVSLIFL	TYVLSFIFRK	WRKNNGFWSF	GFFIILICVS	TIMVSTQYEK	LNLILCMIFI
1090	1100	1110	1120	1130	1140
PSFTLLGYVM	LLIQLDFMRN	LDSLDNRINE	VNKTILLTTL	IPYLQSVIFL	FVIRCLEMKY
1150	1160	1170	1180	1190	1200
GNEIMNKDPV	FRISPRSRET	HPNPEEPEEE	DEDVQAERVQ	AANALTAPNL	EEEPVITASC
1210	1220	1230	1240	1250	1260
LHKEYYETKK	SCFSTRKKKI	AIRNVSFCVK	KGEVLGLLGH	NGAGKSTSIK	MITGCTKPTA
1270	1280	1290	1300	1310	1320
GVVVLQGSRA	SVRQQHDNSL	KFLGYCPQEN	SLWPKLTMKE	HLELYAAVKG	LGKEDAALSI
1330	1340	1350	1360	1370	1380
SRLVEALKLQ	EQLKAPVKTL	SEGIKRKLCF	VLSILGNPSV	VLLDEPFTGM	DPEGQQQMWQ
1390	1400	1410	1420	1430	1440
ILQATVKNKE	RGTLLTTHYM	SEAEAVCDRM	AMMVSGTLRC	IGSIQHLKNK	FGRDYLLEIK
1450	1460	1470	1480	1490	1500
MKEPTQVEAL	HTEILKLFPQ	AAWQERYSSL	MAYKLPVEDV	HPLSRAFFKL	EAMKQTFNLE
1510	1520	1530	1540
EYSLSQATLE	QVFLELCKEQ	ELGNVDDKID	TTVEWKLLPQ	EDP