AiPD: Autoinhibited Protein Database

Q8WWZ7

Gene name	ABCA5
Protein name	Cholesterol transporter ABCA5
Names	ATP-binding cassette sub-family A member 5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23461
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

766-846 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

766-846 (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 Q8WWZ7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8WWZ7-F1	Predicted				AlphaFoldDB

1323 variants for Q8WWZ7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001262669 rs139696278 CA8737847	190	N>S	Gingival fibromatosis-hypertrichosis syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs750649185 CA8738013	2	S>F		No	ClinGen ExAC
rs758687342 CA8738014	2	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs765387207 CA8738012	5	I>V		No	ClinGen ExAC gnomAD
CA400827132 rs753819993	7	E>*		No	ClinGen ExAC gnomAD
rs753819993 CA8738010	7	E>K		No	ClinGen ExAC gnomAD
CA400827089 rs1440617034	9	G>R		No	ClinGen gnomAD
CA8738008 rs143617991	14	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770623872 CA400826944	15	R>K		No	ClinGen ExAC TOPMed gnomAD
rs770623872 CA8738006	15	R>T		No	ClinGen ExAC TOPMed gnomAD
CA293364891 rs967412830	16	T>I		No	ClinGen TOPMed
CA8738004 rs773009365	17	L>V		No	ClinGen ExAC gnomAD
rs1159405191 CA400826906	18	L>P		No	ClinGen gnomAD
CA293364881 rs979031739	20	K>E		No	ClinGen Ensembl
rs1479245322 CA400826862	21	N>Y		No	ClinGen TOPMed
CA400826763 rs747704736	26	C>*		No	ClinGen ExAC TOPMed gnomAD
CA400826773 rs1250960077	26	C>S		No	ClinGen gnomAD
CA400826769 rs1215729980	26	C>Y		No	ClinGen gnomAD
CA8738001 rs780547628	27	R>G		No	ClinGen ExAC gnomAD
CA400826749 rs1222151614	27	R>K		No	ClinGen gnomAD
TCGA novel	28	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769268134 CA8738000	28	T>I		No	ClinGen ExAC TOPMed gnomAD
rs769268134 CA400826733	28	T>N		No	ClinGen ExAC TOPMed gnomAD
rs747470011 CA8737998	32	S>N		No	ClinGen ExAC TOPMed gnomAD
CA400826631 rs1328374477 COSM983626	34	Q>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs375630767 CA8737997	34	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs375630767 CA8737996	34	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA400826438 rs1357748415	41	F>I		No	ClinGen TOPMed gnomAD
rs751512043	43	L>F	Variant assessed as Somatic; 5.301e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs1052359 CA293364556	43	L>F		No	ClinGen Ensembl
rs751512043	43	L>Y	Variant assessed as Somatic; 0.000212 impact. [NCI-TCGA]	No	NCI-TCGA
rs1184981238 CA400826319	45	W>*		No	ClinGen gnomAD
CA400826313 rs1184981238	45	W>C		No	ClinGen gnomAD
rs1418580493 CA400826323	45	W>L		No	ClinGen gnomAD
rs772531138 CA8737975	47	I>V		No	ClinGen ExAC gnomAD
rs867889642 CA293364550	49	I>S		No	ClinGen Ensembl
rs746269594 CA8737974	50	S>G		No	ClinGen ExAC gnomAD
rs1211485518 CA400826211	50	S>N		No	ClinGen gnomAD
CA400826198 rs1307258481	50	S>R		No	ClinGen TOPMed gnomAD
CA8737973 rs779225546	51	M>I		No	ClinGen ExAC gnomAD
rs1177978083 CA400826194	51	M>V		No	ClinGen TOPMed
rs534436116 CA8737972	52	M>I		No	ClinGen ExAC gnomAD
rs749467654 CA8737971 COSM1710708	54	P>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs777981058 CA8737970	57	K>T		No	ClinGen ExAC TOPMed gnomAD
CA627589345 rs1314614571	58	Y>*		No	ClinGen gnomAD
CA8737969 rs756157592	58	Y>F		No	ClinGen ExAC gnomAD
TCGA novel	60	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8737967 rs766448392	62	P>S		No	ClinGen ExAC gnomAD
rs1327796899 CA400825719	63	N>D		No	ClinGen TOPMed
rs1327796899 CA400825724	63	N>H		No	ClinGen TOPMed
TCGA novel	63	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1411801979 CA400825683	64	I>R		No	ClinGen gnomAD
CA8737966 rs146950897	64	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA400825639 rs1277278615	65	E>D		No	ClinGen TOPMed
CA400825595 rs1346104625	67	N>S		No	ClinGen TOPMed
rs141163743 CA8737965	71	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1474265761 CA400825351	74	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	74	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373680676 CA293364513	78	I>V		No	ClinGen ESP TOPMed gnomAD
rs761606626 CA8737963 COSM3672550	79	L>V	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8737961 rs148185360	81	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA293364498 rs1017154273	81	Y>H		No	ClinGen TOPMed
CA400825128 rs1319104454	82	T>S		No	ClinGen gnomAD
rs370534525 CA8737960	83	P>L		No	ClinGen ESP ExAC gnomAD
CA400825103 rs1481711135	83	P>S		No	ClinGen TOPMed
CA8737958 rs537418571	86	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA400824981 rs1314281535	87	I>T		No	ClinGen gnomAD
rs1429190828 CA400824992	87	I>V		No	ClinGen TOPMed
rs143399790 CA8737957	90	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_027571 CA293364473 rs12383	93	Q>K		No	ClinGen UniProt Ensembl dbSNP
rs1372534178 CA400824868	93	Q>R		No	ClinGen gnomAD
CA400824854 rs1296182535	94	K>E		No	ClinGen gnomAD
CA400824850 rs1444096565	94	K>R		No	ClinGen gnomAD
rs1164450571 CA400824838	95	V>L		No	ClinGen gnomAD
rs1460091945 CA400824823	96	S>F		No	ClinGen TOPMed gnomAD
CA400824817 rs1420063379	97	T>A		No	ClinGen gnomAD
CA8737955 rs774763764	98	D>G		No	ClinGen ExAC gnomAD
CA400824789 rs149206442	99	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8737954 rs149206442	99	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3672549 rs1028726642 CA293364456	100	L>V	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs777877299 CA8737952	101	P>A		No	ClinGen ExAC gnomAD
rs756316411 CA8737951	102	D>Y		No	ClinGen ExAC gnomAD
CA400823282 rs1485242572	104	I>T		No	ClinGen gnomAD
CA400823291 COSM562306 rs1438450341	104	I>V	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA400823201 rs1218652003	107	E>G		No	ClinGen gnomAD
CA400823187 rs1373772722	108	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8737927 rs201346812	109	Y>D		No	ClinGen 1000Genomes ExAC gnomAD
CA8737926 rs748380020	110	T>I		No	ClinGen ExAC TOPMed gnomAD
CA400822921 rs1381912172	115	M>I		No	ClinGen gnomAD
rs75899488 CA293362581	117	T>P		No	ClinGen Ensembl
rs199888749 CA400822814	118	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199888749 CA8737922 RCV000915485	118	S>F		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs747037136 CA8737923	118	S>T		No	ClinGen ExAC gnomAD
CA8737917 rs369806150	123	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1378616721 CA400822596	123	P>S		No	ClinGen gnomAD
rs1481805239 CA400822570	124	S>G		No	ClinGen TOPMed
CA8737915 rs376806604	124	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA400822531 rs1164927644	125	N>K		No	ClinGen TOPMed
rs1250370066 CA400822533	125	N>S		No	ClinGen TOPMed
TCGA novel	125	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759065431 CA8737914	126	F>L		No	ClinGen ExAC gnomAD
CA293362544 rs966565224	126	F>Y		No	ClinGen TOPMed gnomAD
CA400822447 rs1171199739	128	G>S		No	ClinGen gnomAD
rs1256394160 CA400822234	135	M>V		No	ClinGen gnomAD
CA400822216 rs1354940605	136	S>T		No	ClinGen TOPMed
CA8737909 rs371330830	137	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8737910 rs763492293	137	Y>N		No	ClinGen ExAC gnomAD
rs1280114367 CA400822109 COSM3403163	140	R>C	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA8737908 COSM983624 rs567168335	140	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1280114367 CA400822113	140	R>S		No	ClinGen TOPMed gnomAD
rs1349722172 CA400822086	141	F>V		No	ClinGen TOPMed
rs1354980064	143	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA400821980 rs1398358469	145	M>T		No	ClinGen TOPMed gnomAD
rs140656112 CA8737905	145	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA400821950 rs1403304320	146	I>T		No	ClinGen gnomAD
rs768960534 CA8737904	147	P>A		No	ClinGen ExAC TOPMed gnomAD
CA8737903 rs747127048	147	P>L		No	ClinGen ExAC TOPMed gnomAD
rs780161701 CA8737902	148	V>I		No	ClinGen ExAC TOPMed gnomAD
rs367763619 CA8737901	150	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs367763619 CA293362468	150	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA8737900 rs749243368	154	D>N		No	ClinGen ExAC gnomAD
TCGA novel	156	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1290294216 CA400820618	158	G>D		No	ClinGen TOPMed
rs754681126 CA8737874	158	G>R		No	ClinGen ExAC gnomAD
CA8737873 rs201093486	159	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8737872 rs146823111	161	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA400820527 rs1390884062	162	S>L		No	ClinGen gnomAD
CA400820517 rs1157911487	163	C>R		No	ClinGen gnomAD
CA8737871 rs757949329	163	C>Y		No	ClinGen ExAC gnomAD
rs1381895162 CA400820469	165	A>S		No	ClinGen gnomAD
CA8737870 rs749865450	167	Q>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	168	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8737869 rs765817707	169	W>G		No	ClinGen ExAC gnomAD
CA8737867 rs754314455	171	S>*		No	ClinGen ExAC gnomAD
rs1452229354 CA400820295	174	T>A		No	ClinGen gnomAD
rs1283678331 CA400820275	175	V>I		No	ClinGen gnomAD
rs1283678331 CA400820273	175	V>L		No	ClinGen gnomAD
rs1203859414 CA400820242	176	L>S		No	ClinGen gnomAD
rs764546589 CA8737866	177	Q>K		No	ClinGen ExAC gnomAD
CA400820221 rs1385049159	177	Q>P		No	ClinGen TOPMed
VAR_048128 rs11544715 CA8737865	178	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1234005863 CA400820186	179	S>T		No	ClinGen gnomAD
rs1272688957 CA400820162	180	I>V		No	ClinGen gnomAD
rs1370175706 CA400820130	181	D>N		No	ClinGen TOPMed gnomAD
TCGA novel	181	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs963351666 CA293362034	182	A>S		No	ClinGen TOPMed gnomAD
TCGA novel	182	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400820091 rs1438236405	183	A>S		No	ClinGen gnomAD
rs368136142 CA8737863	184	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8737861 rs774263194	186	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1415050142 CA400819541	187	L>F		No	ClinGen TOPMed
CA400819499 rs1178548197	188	K>N		No	ClinGen TOPMed
CA400819478 rs1239356443	189	T>A		No	ClinGen gnomAD
CA8737846 rs767820577	191	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8737844 rs751717780	193	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs751717780 CA8737845	193	L>I		No	ClinGen ExAC gnomAD
rs766441037 CA8737841	194	W>C		No	ClinGen ExAC gnomAD
CA8737840 rs762965233	197	L>Q		No	ClinGen ExAC gnomAD
CA400819061 rs1264061494	198	E>K		No	ClinGen gnomAD
rs1321694438 CA400819010	200	T>A		No	ClinGen TOPMed
rs776573075 CA8737839	200	T>I		No	ClinGen ExAC TOPMed gnomAD
CA400818900 rs1482582183	201	K>E		No	ClinGen gnomAD
CA400818886 rs1239513292	201	K>R		No	ClinGen gnomAD
CA293361207 rs992032843	203	V>A		No	ClinGen Ensembl
rs1211242905 CA400818785	204	I>T		No	ClinGen gnomAD
rs768541929 CA8737838	205	M>V		No	ClinGen ExAC TOPMed gnomAD
CA400818733 rs1256990493	206	G>E		No	ClinGen gnomAD
CA8737836 rs775128942	210	V>G		No	ClinGen ExAC TOPMed
rs760562346 CA8737837	210	V>I		No	ClinGen ExAC
TCGA novel	212	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400818482 rs1319324560	213	I>M		No	ClinGen gnomAD
rs771818111 CA8737834	213	I>V		No	ClinGen ExAC gnomAD
rs139545118 CA8737833	215	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8737832 rs139545118	215	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8737830 rs748755863	217	P>S		No	ClinGen ExAC TOPMed gnomAD
rs756547724 CA8737828	218	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs559305999 CA8737827	218	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1598200812 CA400818185	223	I>T		No	ClinGen Ensembl
rs200016446 CA8737826	223	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8737825 rs755292717	224	Y>C		No	ClinGen ExAC gnomAD
rs1164312492 CA400818036	227	I>M		No	ClinGen gnomAD
CA293361162 rs577192827	228	A>T		No	ClinGen 1000Genomes gnomAD
CA400818024 rs1416580381	228	A>V		No	ClinGen gnomAD
rs1241411471 CA400817946	230	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs766540082 CA8737823	232	F>L		No	ClinGen ExAC TOPMed gnomAD
rs763053145 CA8737822	233	G>A		No	ClinGen ExAC gnomAD
rs763053145 CA400817873	233	G>E		No	ClinGen ExAC gnomAD
rs1458817526 CA400817836	234	Y>C		No	ClinGen gnomAD
rs775425255 CA8737818	237	A>E		No	ClinGen ExAC gnomAD
rs760520355 CA8737819	237	A>T		No	ClinGen ExAC gnomAD
CA400817751 rs771770671	239	H>D		No	ClinGen ExAC TOPMed gnomAD
rs771770671 CA8737817	239	H>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	240	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400817728 rs1567780053	240	I>V		No	ClinGen Ensembl
CA400817703 rs1455915481	241	V>G		No	ClinGen TOPMed
rs544106230 CA8737815	241	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400817692 rs1401324278	242	A>E		No	ClinGen gnomAD
CA400817700 rs1449192565	242	A>T		No	ClinGen gnomAD
CA400817686 rs1325556290	243	E>K		No	ClinGen TOPMed gnomAD
rs140653807 CA400817621	245	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA400817615 rs1351733432	245	E>G		No	ClinGen TOPMed gnomAD
CA293361102 rs140653807	245	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	246	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751460805	248	I>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8737813 rs748843899	248	I>T		No	ClinGen ExAC TOPMed
rs1343088476 CA400817529	248	I>V		No	ClinGen TOPMed
CA400817451 rs1180912574	250	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA400817433 rs1238406297	251	F>L		No	ClinGen gnomAD
CA400817326 rs1190313955	254	I>M		No	ClinGen gnomAD
rs973358484 CA293361085	254	I>V		No	ClinGen Ensembl
rs1487206693 CA400817297	255	M>I		No	ClinGen TOPMed gnomAD
rs777398865 CA8737809	256	G>V		No	ClinGen ExAC TOPMed gnomAD
CA400817235 rs781673819	258	H>L		No	ClinGen ExAC TOPMed gnomAD
rs781673819 CA8737806	258	H>R		No	ClinGen ExAC TOPMed gnomAD
rs748597974 CA8737807	258	H>Y		No	ClinGen ExAC gnomAD
CA400817194 rs1242037672	260	T>A		No	ClinGen gnomAD
rs1377413126 CA400817182	260	T>I		No	ClinGen gnomAD
rs1242037672 CA400817192	260	T>S		No	ClinGen gnomAD
rs184731520 CA8737805 RCV000888210	261	A>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs754428546 CA8737803	262	F>S		No	ClinGen ExAC TOPMed gnomAD
CA8737802 rs201937555	263	W>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1401167778 CA400816050	264	L>F		No	ClinGen gnomAD
CA8737788 rs769189183	266	W>*		No	ClinGen ExAC TOPMed gnomAD
rs538740505 CA400815978	267	V>I		No	ClinGen 1000Genomes TOPMed gnomAD
CA293359993 rs538740505	267	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs777037686 CA8737786	270	Y>C		No	ClinGen ExAC gnomAD
CA8737782 rs142041366	272	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1301818193 CA400815817	274	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8737779 rs757303706	277	M>T		No	ClinGen ExAC TOPMed gnomAD
rs779141172 CA8737780	277	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1255147523 CA400815732	280	L>I		No	ClinGen TOPMed gnomAD
rs1317088772 CA400815730	280	L>R		No	ClinGen TOPMed
rs1223939406 CA400815722	281	M>I		No	ClinGen TOPMed
CA293359946 rs1029808372	281	M>R		No	ClinGen Ensembl
CA8737778 rs753911623	282	A>E		No	ClinGen ExAC TOPMed gnomAD
CA400815719 rs1198500028	282	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs767391721 CA8737777	283	V>A		No	ClinGen ExAC TOPMed gnomAD
CA293359937 rs80047058	285	A>S		No	ClinGen Ensembl
rs140650277 CA8737776	285	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA400815693 rs1280211376	286	T>I		No	ClinGen gnomAD
CA8737774 rs766272551	287	A>G		No	ClinGen ExAC gnomAD
CA400815690 rs1486850633	287	A>P		No	ClinGen TOPMed
CA8737773 rs376924166	288	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs376924166 CA8737772	288	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8737769 rs756713249	291	F>L		No	ClinGen ExAC gnomAD
rs975149523 CA293359874	293	Q>*		No	ClinGen TOPMed
CA400815646 rs1336920453	294	S>N		No	ClinGen gnomAD
rs1427627337 CA400815640	295	S>G		No	ClinGen TOPMed
rs769210331 CA8737768	296	S>N		No	ClinGen ExAC gnomAD
rs964242735 CA293359869	299	I>M		No	ClinGen TOPMed
rs199858258 CA8737767	300	F>V		No	ClinGen ExAC gnomAD
CA400815597 rs1475487784	301	L>P		No	ClinGen gnomAD
rs1598198631 CA400815592	302	L>P		No	ClinGen Ensembl
CA400815587 rs1160390917	303	F>V		No	ClinGen TOPMed
rs776887626	304	F>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA400815570 rs1432221812	305	L>H		No	ClinGen TOPMed
TCGA novel	305	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400815562 rs1425313699	306	Y>C		No	ClinGen gnomAD
CA293359833 rs1009941194	310	S>F		No	ClinGen Ensembl
TCGA novel	311	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	314	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1212081749 CA400814336	314	A>S		No	ClinGen gnomAD
rs1357684554 CA400814318	314	A>V		No	ClinGen gnomAD
rs1285999965 CA400814272	315	L>F		No	ClinGen TOPMed gnomAD
CA400814255 rs1306938179	316	M>K		No	ClinGen TOPMed
rs759855981 CA8737745	316	M>L		No	ClinGen ExAC gnomAD
rs1234026526 CA400814205	318	T>I		No	ClinGen TOPMed
rs201944918 CA8737744 RCV000915484	321	F>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
TCGA novel	322	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771112408 CA8737743	322	K>R		No	ClinGen ExAC gnomAD
CA8737741 rs777791414	323	K>N		No	ClinGen ExAC gnomAD
rs749520549 CA8737742	323	K>R		No	ClinGen ExAC
CA400813932 rs1321019807	326	H>D		No	ClinGen gnomAD
rs770006280 CA8737740	326	H>Q		No	ClinGen ExAC gnomAD
rs1264274550 CA400813895	326	H>R		No	ClinGen TOPMed
CA8737739 rs748188087	327	V>M		No	ClinGen ExAC
CA400813811 rs1158047605	328	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8737737 rs780182861	328	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1158047605 CA400813822	328	G>V		No	ClinGen gnomAD
CA400813712 rs1159321162	331	E>G		No	ClinGen gnomAD
CA400813557 rs1244994315	334	V>F		No	ClinGen gnomAD
rs1490552859 CA400813510	336	V>M		No	ClinGen gnomAD
CA293358958 rs76545575	339	G>*		No	ClinGen Ensembl
CA293358949 rs201754950	342	G>C		No	ClinGen TOPMed gnomAD
CA400813294 rs201754950	342	G>S		No	ClinGen TOPMed gnomAD
CA400813047 rs1356238116	348	I>T		No	ClinGen gnomAD
CA293358947 rs1010018597	348	I>V		No	ClinGen TOPMed
CA8737735 rs750243160	349	E>G		No	ClinGen ExAC gnomAD
rs1223929572 CA400813000	350	S>G		No	ClinGen gnomAD
COSM473279 CA8737734 rs778765981	350	S>R	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA400812915 rs1214555240	352	P>L		No	ClinGen gnomAD
rs892454700 CA400812815	354	S>*		No	ClinGen TOPMed gnomAD
rs892454700 CA293358928	354	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs139637578 CA8737730	356	V>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA400812742 rs752169540	357	W>*		No	ClinGen ExAC TOPMed gnomAD
CA8737729 rs752169540	357	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1441825011 CA400812762	357	W>R		No	ClinGen TOPMed
rs1260102962 CA400812628	361	P>S		No	ClinGen gnomAD
rs1233763627 CA400812576	364	H>P		No	ClinGen TOPMed
CA8737727 rs768057145	366	T>A		No	ClinGen ExAC TOPMed
CA293358874 rs978405996	366	T>I		No	ClinGen TOPMed gnomAD
CA400812535 rs1423319194	367	F>S		No	ClinGen gnomAD
CA8737725 rs113034849	368	V>M		No	ClinGen ExAC TOPMed gnomAD
CA293358866 rs1021917416	369	I>T		No	ClinGen TOPMed gnomAD
CA400812500 rs1598195784	370	G>S		No	ClinGen Ensembl
CA8737723 rs771331389	372	A>V		No	ClinGen ExAC gnomAD
CA8737705 rs766745022	374	V>L		No	ClinGen ExAC gnomAD
CA400859282 rs1168382203	375	M>R		No	ClinGen TOPMed
CA8737704 rs763406202	375	M>V		No	ClinGen ExAC gnomAD
rs568293835 CA8737703	376	H>R		No	ClinGen ExAC TOPMed gnomAD
rs765615012 CA8737702	379	D>N		No	ClinGen ExAC TOPMed gnomAD
CA400859168 rs1446728773	383	G>S		No	ClinGen TOPMed
CA8737701 rs553651672	384	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8737700 rs553651672	384	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400859150 rs553651672	384	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201966309 CA293378606	386	F>S		No	ClinGen Ensembl
CA400859121 rs1164724702	387	S>A		No	ClinGen gnomAD
CA8737699 rs768798156	388	N>K		No	ClinGen ExAC gnomAD
rs747016059 CA8737698	391	A>S		No	ClinGen ExAC gnomAD
CA400859072 rs747016059	391	A>T		No	ClinGen ExAC gnomAD
rs774380524 CA8737697	392	G>V		No	ClinGen ExAC gnomAD
CA400859046 rs1376425078	393	P>Q		No	ClinGen gnomAD
CA8737696 rs370704601	394	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8737695 rs749128061	396	L>V		No	ClinGen ExAC gnomAD
rs777527222 CA8737694	397	I>V		No	ClinGen ExAC TOPMed gnomAD
rs755828175 CA8737693	398	I>V		No	ClinGen ExAC gnomAD
CA293378603 rs947885465	399	T>A		No	ClinGen Ensembl
rs747802134 CA8737692	400	I>V		No	ClinGen ExAC TOPMed gnomAD
CA400858951 rs1184574216	401	I>T		No	ClinGen gnomAD
rs1439537314 CA400858943	402	M>V		No	ClinGen gnomAD
CA8737691 rs780765055	403	L>F		No	ClinGen ExAC TOPMed gnomAD
CA400858927 rs780765055	403	L>I		No	ClinGen ExAC TOPMed gnomAD
CA400858907 rs1191725991	404	T>I		No	ClinGen gnomAD
rs750991807 CA8737689	404	T>S		No	ClinGen ExAC gnomAD
rs766960002 CA8737688	406	N>S		No	ClinGen ExAC gnomAD
rs1319869141 CA400858874	407	S>C		No	ClinGen TOPMed gnomAD
CA400858854 rs1246434980	408	I>T		No	ClinGen gnomAD
TCGA novel	409	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598194055 CA400858844	409	F>V		No	ClinGen Ensembl
CA293378601 rs200393047	410	Y>C		No	ClinGen TOPMed gnomAD
CA8737685 rs765702672	411	V>I		No	ClinGen ExAC gnomAD
CA400858809 rs1374104300	412	L>F		No	ClinGen gnomAD
TCGA novel	412	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400858787 rs1447911191	415	V>L		No	ClinGen TOPMed
CA293378600 rs865970991	416	Y>*		No	ClinGen Ensembl
CA8737683 rs1192992678	416	Y>C		No	ClinGen TOPMed gnomAD
CA400857960 rs550274216	424	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8737664 rs550274216	424	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	424	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8737665 rs750981219	424	E>Q		No	ClinGen ExAC gnomAD
rs149261056 COSM1385581 CA8737662	428	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs757729755 CA8737663	428	R>W		No	ClinGen ExAC TOPMed gnomAD
rs764428679 CA8737661	431	S>T		No	ClinGen ExAC gnomAD
rs981295770 CA293378139	433	Y>N		No	ClinGen TOPMed
TCGA novel	434	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377356251 CA8737659	437	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs767496127 CA8737658	438	S>L		No	ClinGen ExAC TOPMed gnomAD
CA8737657 rs759553852	439	Y>C		No	ClinGen ExAC gnomAD
rs773153834 CA8737656	440	W>*		No	ClinGen ExAC TOPMed gnomAD
CA400857858 rs773153834	440	W>L		No	ClinGen ExAC TOPMed gnomAD
CA400857847 rs1301439685	442	K>E		No	ClinGen gnomAD
CA8737655 rs561572642	442	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	442	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM983616 CA8737653 rs776278452	445	R>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
rs768422038 CA8737652	446	N>S		No	ClinGen ExAC TOPMed gnomAD
CA400857807 rs1351087566	447	Y>F		No	ClinGen TOPMed
rs201023346 CA8737651	448	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8737650 rs138384289	449	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA8737648 rs745333914	450	L>V		No	ClinGen ExAC gnomAD
rs757819939 CA8737646	453	G>D		No	ClinGen ExAC gnomAD
CA293378138 rs1014321387	454	N>K		No	ClinGen Ensembl
CA400857754 rs1383097485	455	V>A		No	ClinGen gnomAD
CA400857757 rs1298462693	455	V>L		No	ClinGen gnomAD
rs1467938583 CA400857727	459	I>T		No	ClinGen gnomAD
CA8737644 rs777990643	459	I>V		No	ClinGen ExAC gnomAD
CA8737643 rs573087768	460	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA400857713 rs1176543541	461	F>Y		No	ClinGen gnomAD
rs1421348142 CA400857705	462	S>N		No	ClinGen gnomAD
rs1329244263 CA400857682	465	I>T		No	ClinGen TOPMed
CA400857663 rs1428841417	468	V>F		No	ClinGen gnomAD
RCV000958229 CA8737640 rs114790500	469	S>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1005546917 CA293378137	471	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA400857628 rs1598189328	473	V>E		No	ClinGen Ensembl
rs765207167 CA8737638	474	G>E		No	ClinGen ExAC gnomAD
TCGA novel	476	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598189312 CA400857611	476	E>G		No	ClinGen Ensembl
CA8737636 rs201017773	476	E>K		No	ClinGen ExAC gnomAD
rs1168947413 CA8737634	477	A>T		No	ClinGen gnomAD
rs1253581929	479	R>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs377753556 CA8737614	481	S>N		No	ClinGen ESP ExAC gnomAD
CA400857377 rs1234654303	482	G>D		No	ClinGen TOPMed
VAR_027572 CA8737613 rs17686569	484	Q>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1181727734 CA400857332	485	K>N		No	ClinGen TOPMed
CA8737612 rs373128022	486	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA293377838 rs774235161	489	K>R		No	ClinGen Ensembl
rs939544386 CA293377837	490	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA293377836 rs908122767	491	G>D		No	ClinGen Ensembl
TCGA novel	491	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs554581117 CA8737610	492	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1225389096 CA400857231	493	N>D		No	ClinGen TOPMed gnomAD
rs1225389096 CA400857232	493	N>H		No	ClinGen TOPMed gnomAD
TCGA novel	493	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8737608 rs200180154	494	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8737607 rs770301609	495	E>D		No	ClinGen ExAC gnomAD
rs1410992650 CA400857176	496	A>T		No	ClinGen TOPMed
CA400857120 rs1329012849	498	R>S		No	ClinGen TOPMed
CA293377425 rs781530938	500	L>F		No	ClinGen TOPMed gnomAD
rs1567770552 CA400856352	500	L>S		No	ClinGen Ensembl
rs750823333 CA8737590	500	L>V		No	ClinGen ExAC TOPMed gnomAD
rs772755834 CA8737588	504	I>M		No	ClinGen ExAC gnomAD
CA8737589 rs762408419	504	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs762387089 CA8737586	505	Y>F		No	ClinGen ExAC
CA8737587 rs770261828	505	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA400856305 rs1301932763 COSM349421	507	G>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs769032634 CA8737584	511	A>T		No	ClinGen ExAC gnomAD
rs747335869 CA8737583	514	G>C		No	ClinGen ExAC gnomAD
rs780297262 CA8737582	514	G>D		No	ClinGen ExAC gnomAD
rs772318726 CA8737581	515	H>D		No	ClinGen ExAC gnomAD
rs745997995 CA8737580	516	S>R		No	ClinGen ExAC gnomAD
rs1260917715 CA400856236	518	T>K		No	ClinGen gnomAD
rs1460612680 CA400856237	518	T>S		No	ClinGen gnomAD
rs1362167056 CA400856233	519	G>R		No	ClinGen TOPMed
CA8737579 rs779050072	520	K>N		No	ClinGen ExAC gnomAD
CA400856186 rs1323702951	525	N>S		No	ClinGen TOPMed gnomAD
rs1212745878 CA400856159	529	G>*		No	ClinGen gnomAD
CA8737576 rs781223954	530	L>V		No	ClinGen ExAC gnomAD
CA8737575 rs754849503	531	C>Y		No	ClinGen ExAC gnomAD
CA400856138 rs1380818803	532	P>L		No	ClinGen gnomAD
CA8737550 rs754942762	540	I>M		No	ClinGen ExAC TOPMed gnomAD
rs376475787 CA8737548	541	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8737549 rs112574477	541	Y>H		No	ClinGen ExAC gnomAD
CA293377292 rs953435555	544	R>G		No	ClinGen TOPMed gnomAD
TCGA novel	544	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293377291 rs764757678 CA8737545	544	R>S		No	ClinGen ExAC gnomAD
rs756803106 CA8737543	548	I>T		No	ClinGen ExAC gnomAD
rs1316532641 CA400855949	549	D>G		No	ClinGen TOPMed gnomAD
CA400855817 rs1374213783	557	M>I		No	ClinGen gnomAD
CA400855825 rs1295410531	557	M>T		No	ClinGen TOPMed
CA400855811 rs1303010752	558	I>F		No	ClinGen TOPMed gnomAD
CA400855813 rs1303010752	558	I>V		No	ClinGen TOPMed gnomAD
rs369799155 CA8737540	559	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1304111578 CA400855790	560	I>L		No	ClinGen gnomAD
rs1304111578 CA400855788	560	I>V		No	ClinGen gnomAD
CA8737539 rs761170658	561	C>S		No	ClinGen ExAC gnomAD
rs1156564420 CA400855735	563	Q>H		No	ClinGen gnomAD
CA8737538 rs775797926	563	Q>R		No	ClinGen ExAC gnomAD
CA293377289 rs770349466	566	I>T		No	ClinGen Ensembl
rs112726739 CA293377290	566	I>V		No	ClinGen Ensembl
rs1420294382 CA400855686	567	H>P		No	ClinGen gnomAD
rs375509855 CA293377288	567	H>Y		No	ClinGen ESP TOPMed
TCGA novel	569	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1408078309 CA400855656	569	D>V		No	ClinGen gnomAD
rs1198548274 CA400855622	572	T>A		No	ClinGen gnomAD
TCGA novel	572	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8737535 rs759767515	574	E>G		No	ClinGen ExAC gnomAD
CA293377286 rs200537238	574	E>K		No	ClinGen 1000Genomes
rs1222908154 CA400855565	576	N>H		No	ClinGen TOPMed gnomAD
CA293377285 rs143290923	576	N>S		No	ClinGen ESP ExAC gnomAD
CA8737533 rs143290923	576	N>T		No	ClinGen ESP ExAC gnomAD
rs975597212 CA293377284	577	L>*		No	ClinGen Ensembl
rs1218225853 CA400855543	577	L>F		No	ClinGen TOPMed gnomAD
CA400855552 rs1259167627	577	L>V		No	ClinGen gnomAD
rs749425721 CA8737532	579	I>S		No	ClinGen ExAC gnomAD
rs773410478 CA8737531	580	L>S		No	ClinGen ExAC gnomAD
CA400855503 rs1245448323	581	A>T		No	ClinGen TOPMed
CA400855494 rs1347910308	581	A>V		No	ClinGen gnomAD
CA400855458 rs1238821570	584	K>R		No	ClinGen TOPMed gnomAD
CA293377283 rs371240400	585	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA8737528 rs371240400	585	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8737526 rs201146045	586	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA293377282 rs912756380	586	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA400855409 rs1455051651	588	A>G		No	ClinGen gnomAD
rs758245704 CA8737525	589	N>K		No	ClinGen ExAC gnomAD
rs976716524 CA293377281	590	N>S		No	ClinGen TOPMed gnomAD
CA8737524 rs534559046	591	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	592	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1405921675 CA400855360	592	I>T		No	ClinGen TOPMed
CA8737523 rs201847285	592	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1431342019 CA400855349	593	Q>*		No	ClinGen TOPMed gnomAD
rs756891451 CA8737522	594	E>*		No	ClinGen ExAC gnomAD
CA293377280 rs149177252	594	E>A		No	ClinGen ESP
CA400855337 rs756891451	594	E>K		No	ClinGen ExAC gnomAD
rs755424738 CA8737499	595	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1180953651 CA400855277 COSM1385580	595	V>M	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA8737498 rs752026222	596	Q>R		No	ClinGen ExAC gnomAD
CA293377230 rs750946911	597	K>R		No	ClinGen Ensembl
CA400855218 rs1384309218	600	L>V		No	ClinGen gnomAD
CA8737495 rs765526099	603	D>H		No	ClinGen ExAC TOPMed gnomAD
rs765526099 CA8737494	603	D>N		No	ClinGen ExAC TOPMed gnomAD
CA293377229 rs988079817	604	M>I		No	ClinGen TOPMed
CA8737493 rs201363682	604	M>R		No	ClinGen ExAC TOPMed gnomAD
CA400855148 rs1369857952	605	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1394249706 CA400855122	607	I>V		No	ClinGen gnomAD
rs145241457 CA8737491	608	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs376179070 CA8737492	608	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs200453508 CA400855085	609	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376990008 CA8737489	610	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs770739743 CA8737488	611	Q>H		No	ClinGen ExAC gnomAD
CA400855052 rs1598181368	612	A>P		No	ClinGen Ensembl
CA8737487 rs749039042	612	A>V		No	ClinGen ExAC gnomAD
rs76926478 CA293377228	613	K>E		No	ClinGen Ensembl
TCGA novel	614	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	616	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293377226 rs1052676616	617	G>R		No	ClinGen Ensembl
TCGA novel	618	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293377225 rs536668610	620	K>*		No	ClinGen 1000Genomes
rs777439456 CA8737486	620	K>N		No	ClinGen ExAC TOPMed gnomAD
CA8737485 rs769305607	621	R>T		No	ClinGen ExAC gnomAD
TCGA novel	626	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	626	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1361116984 CA400854775	627	I>V		No	ClinGen gnomAD
TCGA novel	628	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752019582 CA400854698	631	G>A		No	ClinGen ExAC gnomAD
CA8737481 rs752019582	631	G>V		No	ClinGen ExAC gnomAD
CA293377224 rs764434899	631	G>W		No	ClinGen Ensembl
CA400854685 rs1333492442	632	N>S		No	ClinGen gnomAD
TCGA novel	632	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400854661 rs1308977367	633	P>L		No	ClinGen gnomAD
rs1231825574 CA400854658	634	K>Q		No	ClinGen TOPMed gnomAD
rs1399203377 CA400853697	636	L>V		No	ClinGen TOPMed gnomAD
rs1466845837 CA400853670	638	L>R		No	ClinGen TOPMed
CA8737464 rs768073133	641	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1469416633 CA400853644	641	P>R		No	ClinGen TOPMed gnomAD
CA293377050 rs758607285	643	A>T		No	ClinGen Ensembl
rs1481472005 CA400853632	644	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs780755276 CA8737462	645	M>I		No	ClinGen ExAC TOPMed gnomAD
rs746487074 CA8737463	645	M>L		No	ClinGen ExAC TOPMed gnomAD
CA400853614 rs1241926728	646	D>E		No	ClinGen gnomAD
CA8737461 rs758958759	646	D>Y		No	ClinGen ExAC gnomAD
rs1567768273 CA400853610	647	P>S		No	ClinGen Ensembl
CA400853591 rs1444903044	650	R>*		No	ClinGen gnomAD
rs746299297 CA400853589	650	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8737460 rs746299297	650	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8737459 rs186015974	651	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400853577 rs1322292031	652	I>T		No	ClinGen gnomAD
rs754025495 CA293377048	653	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8737457 rs754025495	653	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1567768240 CA400853548	656	L>R		No	ClinGen Ensembl
rs752754377 CA8737453	659	Y>H		No	ClinGen ExAC gnomAD
TCGA novel	660	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199955824 CA293377047	662	A>T		No	ClinGen Ensembl
CA8737452 rs766363836	663	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8737450 rs371490208	664	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8737451 rs375901989	664	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA400853492 rs1440397939	665	V>A		No	ClinGen TOPMed
rs1179160568 CA400853494	665	V>M		No	ClinGen gnomAD
rs764955970 CA8737449	667	V>L		No	ClinGen ExAC gnomAD
CA400853466 rs201584062	669	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8737447 rs201584062	669	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA293377046 rs982734757	671	H>Y		No	ClinGen gnomAD
CA400853439 rs1249490092	672	F>L		No	ClinGen TOPMed gnomAD
rs1476630391 CA400853450	672	F>V		No	ClinGen gnomAD
CA8737446 rs768331960	673	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1460427190 CA400853399	675	E>K		No	ClinGen gnomAD
rs112801418 CA293377045	676	A>V		No	ClinGen Ensembl
CA8737445 rs746574963	678	I>V		No	ClinGen ExAC gnomAD
rs1212087552 CA400853319	680	A>S		No	ClinGen TOPMed gnomAD
rs1360094166 CA400853161	681	D>E		No	ClinGen gnomAD
rs760405594 CA8737427	682	R>G		No	ClinGen ExAC gnomAD
rs372894277 CA8737426	682	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs771726682 CA8737425	685	V>G		No	ClinGen ExAC gnomAD
TCGA novel	685	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs544036448 CA8737424	686	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8737423 rs774756729	686	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1331616140 CA400853092	686	I>T		No	ClinGen gnomAD
TCGA novel	688	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8737422 rs771451939	689	G>R		No	ClinGen ExAC gnomAD
CA293376910 rs764824201	692	K>R		No	ClinGen Ensembl
rs1371501776 CA400852990	693	C>F		No	ClinGen gnomAD
TCGA novel	697	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400852958 rs1197389421	698	M>T		No	ClinGen TOPMed
rs376235598 CA8737420	698	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1423170290 CA400852946	699	F>L		No	ClinGen TOPMed gnomAD
CA8737419 rs373286543	701	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1166494708 CA400852929	702	S>N		No	ClinGen gnomAD
CA400852919 rs1423825162	703	K>I		No	ClinGen TOPMed gnomAD
rs748385073 CA8737418	703	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1175361999 CA400852916	704	W>R		No	ClinGen gnomAD
CA8737417 rs370037917	705	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs968494720 CA400852621	707	G>C		No	ClinGen TOPMed
rs968494720 CA8737414	707	G>S		No	ClinGen TOPMed
rs778773561 CA8737412	708	Y>*		No	ClinGen ExAC gnomAD
CA8737413 rs147646493	708	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8737411 rs757213155	709	R>C		No	ClinGen ExAC TOPMed gnomAD
CA400852599 rs757213155	709	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8737410 rs753649836	709	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1166819820 CA400852593	710	L>M		No	ClinGen TOPMed gnomAD
rs991155773 CA400852584	710	L>P		No	ClinGen TOPMed
CA293376909 rs991155773	710	L>R		No	ClinGen TOPMed
CA400852576 rs1228040052	711	S>R		No	ClinGen TOPMed
rs752513645 CA8737389	712	M>T		No	ClinGen ExAC gnomAD
rs1360832012 CA400852444	712	M>V		No	ClinGen gnomAD
TCGA novel	715	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs184577046 CA8737388	716	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8737385 rs751108918	718	C>G		No	ClinGen ExAC TOPMed gnomAD
rs1176477085 CA627589227	722	S>Y		No	ClinGen gnomAD
TCGA novel	723	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1306000501 CA400852139	724	S>F		No	ClinGen TOPMed gnomAD
TCGA novel	724	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs113728302 CA8737384	727	V>A		No	ClinGen ESP ExAC gnomAD
rs762322818 CA8737383	728	K>R		No	ClinGen ExAC gnomAD
rs1190762928 CA400852054	729	Q>R		No	ClinGen gnomAD
CA293376891 rs376534783	731	I>T		No	ClinGen gnomAD
rs1272477824 CA400852023	731	I>V		No	ClinGen gnomAD
CA400851977 rs1404673765	734	A>P		No	ClinGen TOPMed
CA400851968 rs1484507482	734	A>V		No	ClinGen gnomAD
rs977580979 CA293376890	735	T>S		No	ClinGen TOPMed
rs1257167162 CA400851944	738	Q>R		No	ClinGen gnomAD
CA400851937 rs1231063580	739	Q>*		No	ClinGen TOPMed
rs1598178119 CA400851916	741	D>E		No	ClinGen Ensembl
CA400851923 COSM3720663 rs1306142764	741	D>N	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs776974219 CA8737379	742	Q>*		No	ClinGen ExAC gnomAD
CA400851899 rs1365224434	744	L>V		No	ClinGen gnomAD
TCGA novel	745	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1393830082 CA400851884	746	Y>C		No	ClinGen gnomAD
TCGA novel	746	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8737376 rs775523720	747	S>R		No	ClinGen ExAC gnomAD
CA8737373 rs777903056	752	D>G		No	ClinGen ExAC gnomAD
rs745900771 CA8737374	752	D>N		No	ClinGen ExAC gnomAD
CA8737372 rs9898003	753	M>L		No	ClinGen ExAC TOPMed gnomAD
CA400851838 VAR_027573 rs9898003	753	M>V		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1450301398 CA400851823	754	D>E		No	ClinGen gnomAD
rs1232047392 CA400851820	755	K>*		No	ClinGen gnomAD
TCGA novel	756	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400850956 rs1344645130	758	G>V		No	ClinGen gnomAD
rs1388762530 CA400850943	759	L>F		No	ClinGen gnomAD
rs764739420 CA8737343	759	L>W		No	ClinGen ExAC TOPMed gnomAD
CA8737341 rs1024916528	761	S>C		No	ClinGen TOPMed gnomAD
rs866516037 CA293376717	762	A>S		No	ClinGen Ensembl
rs1014362598 CA293376716	763	L>I		No	ClinGen Ensembl
CA293376714 rs752090117	764	D>E		No	ClinGen gnomAD
rs754371724 CA400850869	765	S>I		No	ClinGen ExAC TOPMed gnomAD
rs754371724 CA8737339	765	S>N		No	ClinGen ExAC TOPMed gnomAD
CA8737340 rs754371724	765	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1480010172 CA400850849	767	S>T		No	ClinGen TOPMed
rs140430746 CA8737338 RCV000958228	768	N>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8737337 rs761146694	768	N>S		No	ClinGen ExAC gnomAD
rs140430746 CA400850838	768	N>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400850819 rs752986364	769	L>*		No	ClinGen ExAC TOPMed gnomAD
rs1480275238 CA400850816	769	L>F		No	ClinGen TOPMed gnomAD
CA8737336 rs752986364	769	L>W		No	ClinGen ExAC TOPMed gnomAD
CA400850806 rs1245368665	770	G>D		No	ClinGen gnomAD
CA8737335 rs767851431	772	I>V		No	ClinGen ExAC gnomAD
CA400850771 rs1452944912	773	S>Y		No	ClinGen gnomAD
rs759847215 CA400850752	774	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1350601886 CA400850760	774	Y>C		No	ClinGen TOPMed
TCGA novel	776	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400850739 rs1410615309	776	V>I		No	ClinGen TOPMed
rs774828617 CA8737333	778	M>L		No	ClinGen ExAC gnomAD
rs774828617 CA293376712	778	M>V		No	ClinGen ExAC gnomAD
TCGA novel	779	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8737332 rs199749819	779	T>M		No	ClinGen ExAC TOPMed gnomAD
CA400850635 rs373892252	783	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1322502959 CA400850639	783	D>G		No	ClinGen TOPMed gnomAD
rs150760061 CA8737329	784	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1359616242 TCGA novel CA400850598	786	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
CA293376709 rs573700749	788	L>P		No	ClinGen 1000Genomes
TCGA novel	792	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8737327 rs779717563	794	I>V		No	ClinGen ExAC gnomAD
rs931916386 CA293376708	796	Q>K		No	ClinGen TOPMed gnomAD
rs867006014 CA293376707	797	A>T		No	ClinGen TOPMed gnomAD
rs771884351 CA8737309	798	D>G		No	ClinGen ExAC TOPMed gnomAD
CA8737307 rs778583140	799	Y>N		No	ClinGen ExAC gnomAD
CA400849150 rs1257886848	800	S>G		No	ClinGen TOPMed
rs369145518 CA8737306	800	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs369145518 CA8737305	800	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1167520974 CA400849146	801	V>I		No	ClinGen gnomAD
rs1248890108 CA400849131	803	T>A		No	ClinGen TOPMed
rs1248890108 CA400849132	803	T>P		No	ClinGen TOPMed
rs1598170570 CA400849119	804	Q>H		No	ClinGen Ensembl
CA293376057 rs927202074	806	P>S		No	ClinGen TOPMed
CA8737304 rs777156436	808	E>Q		No	ClinGen ExAC gnomAD
rs1391671776 CA400849090	809	E>A		No	ClinGen gnomAD
rs547136283 CA8737302 CA293376056	811	M>L		No	ClinGen ExAC TOPMed gnomAD
CA8737303 rs547136283	811	M>V		No	ClinGen ExAC TOPMed gnomAD
rs201970995 CA8737301	816	F>L		No	ClinGen ExAC TOPMed gnomAD
CA400849039 rs1472209461	816	F>S		No	ClinGen gnomAD
RCV000880908 CA8737299 rs142165698	817	D>Y		No	ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD
TCGA novel	818	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs917068760 CA293376055	818	E>K		No	ClinGen TOPMed
CA400849022 rs1273625054	819	M>V		No	ClinGen TOPMed gnomAD
CA8737297 rs751951555	820	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1388997266 CA400848957	823	L>S		No	ClinGen TOPMed
rs1298687189 CA400848959	823	L>V		No	ClinGen gnomAD
TCGA novel	824	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400848927 rs1227758028	825	I>T		No	ClinGen gnomAD
CA400848912 rs1377083140	826	L>P		No	ClinGen TOPMed gnomAD
rs1449432729 CA400848871	829	T>I		No	ClinGen gnomAD
rs1306524839 CA400848858	830	K>N		No	ClinGen gnomAD
CA400848850 rs909657653	831	A>G		No	ClinGen TOPMed gnomAD
rs138563637 CA8737295	831	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs909657653 CA293376054	831	A>V		No	ClinGen TOPMed gnomAD
CA8737294 rs536009	832	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_027574 rs536009 CA8737293	832	A>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA400848830 rs1404175012	834	V>M		No	ClinGen gnomAD
CA400848812 rs1028534923	835	S>R		No	ClinGen TOPMed gnomAD
CA400848808 rs1183474555	836	T>A		No	ClinGen gnomAD
CA8737292 rs761911150	837	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	838	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8737291 rs775327804	838	S>R		No	ClinGen ExAC gnomAD
CA400848765 rs1331533527	839	L>F		No	ClinGen TOPMed
rs767416927 CA8737290	840	W>S		No	ClinGen ExAC gnomAD
TCGA novel	841	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400848706 rs1213876066	843	Q>R		No	ClinGen TOPMed
rs375347353 CA293376051	844	M>I		No	ClinGen ESP TOPMed gnomAD
rs1221155883 CA400848659	845	Y>*		No	ClinGen gnomAD
rs759382234 CA8737289	845	Y>C		No	ClinGen ExAC TOPMed gnomAD
RCV000887241 CA8737288 rs150573125	846	T>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs770641929 CA8737287	847	I>T		No	ClinGen ExAC gnomAD
CA400848645 rs1292089451	847	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	848	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748910751 CA8737286	848	A>T		No	ClinGen ExAC TOPMed gnomAD
CA400848585 rs958076817	849	K>N		No	ClinGen gnomAD
rs747667004 CA8737283	857	R>C		No	ClinGen ExAC TOPMed gnomAD
rs372351592 CA8737282	857	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA400848318 rs1411068965	860	K>R		No	ClinGen gnomAD
rs1473429732 CA400848297	861	S>P		No	ClinGen gnomAD
CA293376049 rs893866282	865	V>G		No	ClinGen TOPMed gnomAD
CA8737279 rs373340614	865	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400846730 rs1295437249	866	L>M		No	ClinGen TOPMed
rs747539849 CA8737257	868	L>V		No	ClinGen ExAC gnomAD
rs1234602964 CA400846659	869	L>F		No	ClinGen gnomAD
CA400846586 rs1364074378	871	I>F		No	ClinGen gnomAD
rs80264795 RCV002252271 CA8737256 RCV000950825	871	I>T		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1385559888 CA400846463	874	T>A		No	ClinGen gnomAD
rs758729775 CA8737254	874	T>I		No	ClinGen ExAC gnomAD
rs1464295420 CA400846408	876	Q>E		No	ClinGen gnomAD
CA400846362 rs1176995281	877	I>S		No	ClinGen gnomAD
rs746220200 CA8737253	877	I>V		No	ClinGen ExAC gnomAD
CA400846278 rs1332686324	879	M>V		No	ClinGen TOPMed
rs376636347 CA8737252	881	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA293374924 rs369254726	884	H>Q		No	ClinGen TOPMed gnomAD
rs1025689034 CA400846109	885	S>C		No	ClinGen TOPMed
rs1025689034 CA293374921	885	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8737250 rs777840284	893	I>F		No	ClinGen ExAC gnomAD
CA8737248 rs146395843	893	I>N		No	ClinGen ESP ExAC gnomAD
rs777840284 CA8737249	893	I>V		No	ClinGen ExAC gnomAD
rs751531014 CA8737247	894	K>Q		No	ClinGen ExAC gnomAD
rs770099632 CA293374915	894	K>R		No	ClinGen Ensembl
CA8737246 rs766277585	895	L>H		No	ClinGen ExAC TOPMed gnomAD
CA400845705 rs1484884805	896	V>A		No	ClinGen gnomAD
CA400845542 rs1238784545	900	Y>C		No	ClinGen TOPMed
CA8737242 rs555345269	900	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8737238 rs776187255	904	P>A		No	ClinGen ExAC gnomAD
rs772618650 CA8737237	904	P>H		No	ClinGen ExAC
CA400845458 rs776187255	904	P>S		No	ClinGen ExAC gnomAD
TCGA novel	904	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8737236 rs746280471	905	G>A		No	ClinGen ExAC
CA400845426 rs1249912899	905	G>R		No	ClinGen TOPMed
CA400845314 rs202029996	907	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA400845252 rs1428946353	909	H>Q		No	ClinGen gnomAD
TCGA novel	911	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374373978 CA293374888	912	K>T		No	ClinGen Ensembl
CA293374885 rs748711705	914	S>T		No	ClinGen TOPMed gnomAD
rs749538259 COSM707449 CA8737232	917	L>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA400845017 rs1185576882	918	Q>H		No	ClinGen gnomAD
rs1567760366 CA400844935	921	A>S		No	ClinGen Ensembl
CA400844929 rs1415926369	921	A>V		No	ClinGen TOPMed
rs1342599833 CA400843328	924	D>E		No	ClinGen TOPMed
rs1266316121 CA400843342	924	D>H		No	ClinGen gnomAD
rs1207536509 CA400843333	924	D>V		No	ClinGen gnomAD
CA400843299 rs1489178813	926	S>G		No	ClinGen gnomAD
rs769993464 CA8737210	926	S>I		No	ClinGen ExAC gnomAD
rs769993464 CA8737209	926	S>N		No	ClinGen ExAC gnomAD
CA400843250 rs377373836	927	D>E		No	ClinGen TOPMed
rs1327059446 CA400843226	928	L>P		No	ClinGen gnomAD
rs748295093 CA8737208	928	L>V		No	ClinGen ExAC gnomAD
CA8737206 rs754956686	929	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1239592788 CA400843219	929	I>V		No	ClinGen gnomAD
rs1321841517 CA400843141	931	F>S		No	ClinGen gnomAD
CA8737205 rs745841862	933	T>I		No	ClinGen ExAC gnomAD
rs533414407 CA8737204	934	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs960259966 CA293373777	935	Q>*		No	ClinGen TOPMed
rs1194835354 CA400843033	936	N>D		No	ClinGen TOPMed
rs367932997 CA8737203	936	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1456089484 CA400842991	937	I>V		No	ClinGen gnomAD
CA8737202 CA293373773 rs753672853	938	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1159505574 CA400842935	939	V>G		No	ClinGen gnomAD
rs150255104 CA8737201	940	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA400842917 rs1477938476	940	T>S		No	ClinGen gnomAD
CA293373764 rs1045269975	944	D>G		No	ClinGen Ensembl
rs1455158388 CA400842736	945	S>T		No	ClinGen gnomAD
CA400842700 rs1475729880	946	D>A		No	ClinGen TOPMed
CA8737198 rs141034059	947	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8737197 rs141034059	947	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143693875 CA8737193	950	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA400842484 rs1273256287	953	H>R		No	ClinGen gnomAD
CA400842489 rs1344034869	953	H>Y		No	ClinGen TOPMed gnomAD
CA8737192 rs760363985	955	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	958	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400842376 rs1433071829	959	V>A		No	ClinGen gnomAD
rs201887786 CA8737190	959	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400842362 rs1598163763	960	M>I		No	ClinGen Ensembl
rs557491 CA400842372	960	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs557491 CA8737189 VAR_027575	960	M>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs539979750 CA8737188	961	H>D		No	ClinGen 1000Genomes ExAC gnomAD
rs747036363 CA8737187	961	H>R		No	ClinGen ExAC gnomAD
rs1400544326 CA400842329	962	S>L		No	ClinGen gnomAD
CA8737186 rs778966560	963	E>*		No	ClinGen ExAC gnomAD
rs757255486 CA8737185	963	E>V		No	ClinGen ExAC gnomAD
rs909211276 CA293373735	964	K>E		No	ClinGen TOPMed
CA400842313 rs1395378365	964	K>T		No	ClinGen gnomAD
rs776959369 CA8737168	965	D>G		No	ClinGen ExAC TOPMed gnomAD
CA400842241 rs1421047074	965	D>N		No	ClinGen gnomAD
CA8737167 rs147866476	966	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1189781975 CA400842168	971	V>L		No	ClinGen TOPMed gnomAD
rs747180977 CA8737164	972	F>L		No	ClinGen ExAC gnomAD
rs775436041 CA8737163	972	F>S		No	ClinGen ExAC gnomAD
CA400842143 rs1203307765	973	N>D		No	ClinGen gnomAD
CA8737162 rs772217031	973	N>S		No	ClinGen ExAC gnomAD
rs749257165 CA8737161	974	S>I		No	ClinGen ExAC gnomAD
rs201469593 CA8737160	976	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1295674293 CA400842055	977	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA400841977 rs1567758578	982	I>M		No	ClinGen Ensembl
CA8737159 rs769754921	982	I>V		No	ClinGen ExAC gnomAD
CA8737158 rs747876316	985	N>T		No	ClinGen ExAC gnomAD
rs751157315 CA8737155	986	I>N		No	ClinGen ExAC gnomAD
CA8737156 RCV000911439 rs145300105	986	I>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA400841909 rs1254576383	987	I>V		No	ClinGen TOPMed
TCGA novel	988	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1461285809 CA400841802	990	Y>D		No	ClinGen TOPMed
rs1248157490 CA400841721	994	H>L		No	ClinGen TOPMed
CA400841731 COSM69477 rs1567758545	994	H>N	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1248157490 CA400841723	994	H>R		No	ClinGen TOPMed
CA400841682 rs1567758537	996	N>K		No	ClinGen Ensembl
CA400841651 rs1450756371	998	T>A		No	ClinGen TOPMed
TCGA novel	999	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400841595 rs1328942000	1000	T>I		No	ClinGen gnomAD
CA8737154 rs371691875	1001	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA400841556 rs1418332480	1002	Q>*		No	ClinGen TOPMed
CA8737153 rs757856122	1002	Q>R		No	ClinGen ExAC gnomAD
rs141491858 CA8737152	1004	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA293373537 rs539996219	1007	P>A		No	ClinGen Ensembl
rs747476156 CA293373528	1007	P>L		No	ClinGen Ensembl
rs762294982 CA8737151	1008	F>L		No	ClinGen ExAC gnomAD
CA8737149 rs145615629	1010	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1011	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1012	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400839994 rs1218256055	1012	I>V		No	ClinGen gnomAD
rs1304985924 CA400839941	1014	D>G		No	ClinGen TOPMed gnomAD
rs754313143 CA8737133	1014	D>N		No	ClinGen ExAC gnomAD
rs754313143 CA8737132	1014	D>Y		No	ClinGen ExAC gnomAD
CA8737129 rs753004266	1015	I>R		No	ClinGen ExAC TOPMed gnomAD
CA8737130 rs753004266	1015	I>T		No	ClinGen ExAC TOPMed gnomAD
rs767832759 CA8737128	1016	V>I		No	ClinGen ExAC TOPMed
CA400839839 rs1284057473	1018	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs371051545 CA8737126	1022	Y>C		No	ClinGen ESP ExAC gnomAD
CA8737125 rs770980231	1027	L>F		No	ClinGen ExAC gnomAD
CA8737123 rs776583950	1031	I>T		No	ClinGen ExAC gnomAD
COSM1610686 CA8737124 rs532229103	1031	I>V	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA8737122 rs368458508	1032	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA400839550 rs1448951896	1033	T>I		No	ClinGen gnomAD
CA400839514 rs1477803182	1035	M>I		No	ClinGen TOPMed
rs781391905	1038	Y>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1255739498 CA400839430	1041	M>V		No	ClinGen gnomAD
rs771706710 CA8737118	1042	E>K		No	ClinGen ExAC gnomAD
rs192667889 CA8737117	1044	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1282042261 CA400839364	1044	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1170221985 CA400839361	1045	E>K		No	ClinGen TOPMed
CA400839332 rs1401085751	1046	N>D		No	ClinGen TOPMed
CA8737097 rs760528914	1050	K>R		No	ClinGen ExAC gnomAD
CA293365670 rs1015303554	1051	A>S		No	ClinGen TOPMed gnomAD
rs139558708 CA8737096	1052	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1187753652 CA400838071	1053	T>S		No	ClinGen TOPMed
rs1598158322 CA400837995	1057	L>R		No	ClinGen Ensembl
CA400837999 rs1476361243	1057	L>V		No	ClinGen gnomAD
CA400837927 rs1401338655	1061	L>F		No	ClinGen TOPMed
CA8737093 rs774011212	1063	S>F		No	ClinGen ExAC gnomAD
rs866601805 CA293365655	1066	W>*		No	ClinGen Ensembl
CA400837808 rs1264754875	1070	A>D		No	ClinGen gnomAD
rs756687815 CA8737089	1071	V>A		No	ClinGen ExAC TOPMed gnomAD
CA400837766 rs1343703173	1074	I>M		No	ClinGen TOPMed
rs1227620905 CA400837742	1076	L>S		No	ClinGen gnomAD
TCGA novel	1079	I>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199643426 CA8737088	1080	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1598158238 CA400837596	1084	M>I		No	ClinGen Ensembl
rs370486183 CA8737087	1084	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs551564563 CA293365646	1091	F>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs750509462 CA8737082	1092	H>L		No	ClinGen ExAC gnomAD
rs139096664 CA8737083	1092	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs139096664 CA8737084 COSM437245	1092	H>Y	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs765162615 CA8737081	1093	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	1095	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1206285496 CA400837438	1095	L>S		No	ClinGen TOPMed gnomAD
rs146196512 CA8737080	1096	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA400837389 rs1251810857	1098	Y>C		No	ClinGen gnomAD
rs1211322548 CA400837370	1099	T>S		No	ClinGen gnomAD
CA400837319 rs1273751969	1103	L>F		No	ClinGen gnomAD
rs759292329 CA8737077	1104	A>V		No	ClinGen ExAC gnomAD
rs773921699 CA8737076	1105	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8737052 rs761379058	1106	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1567754359 CA400836936	1108	C>Y		No	ClinGen Ensembl
CA400836916 rs1395821611	1109	L>F		No	ClinGen gnomAD
rs1166585950 CA400836914	1109	L>H		No	ClinGen gnomAD
CA400836905 rs1474004162	1110	I>V		No	ClinGen TOPMed gnomAD
CA400836819 rs1435986296	1112	Y>C		No	ClinGen TOPMed gnomAD
rs1395136613 CA400836808	1113	V>I		No	ClinGen gnomAD
CA400836778 rs1166846406	1114	P>S		No	ClinGen gnomAD
TCGA novel	1115	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1333792020 CA400836706	1117	I>T		No	ClinGen TOPMed
CA400836693 rs1243829533	1118	L>V		No	ClinGen gnomAD
rs747406390 CA8737049	1119	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1255623836 CA400836651	1120	T>N		No	ClinGen gnomAD
CA400836635 rs1213321995	1121	Y>C		No	ClinGen TOPMed gnomAD
CA8737047 rs772273137	1124	S>A		No	ClinGen ExAC gnomAD
CA400836579 rs1212951083	1124	S>C		No	ClinGen gnomAD
rs746129800 CA8737046	1125	F>L		No	ClinGen ExAC TOPMed
TCGA novel	1128	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1340083575 CA400836492	1129	K>N		No	ClinGen TOPMed
TCGA novel	1130	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779075794 CA8737045	1131	L>V		No	ClinGen ExAC gnomAD
CA8737043 rs753900683	1133	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1315242074 CA400836428	1134	K>E		No	ClinGen gnomAD
rs1375748949 CA400835095	1138	S>L		No	ClinGen gnomAD
CA293364746 rs999361838	1141	Y>C		No	ClinGen TOPMed
CA293364743 rs903237563	1143	V>L		No	ClinGen Ensembl
CA400834878 rs1329005249	1144	A>P		No	ClinGen gnomAD
CA400834869 rs763638212	1145	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1460831565 CA400834872	1145	A>T		No	ClinGen TOPMed gnomAD
CA8737029 COSM1640789 rs763638212	1145	A>V	Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs576658683 CA8737026	1147	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs576658683 CA8737027	1147	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746196331 CA8737025	1148	C>Y		No	ClinGen ExAC gnomAD
CA400834824 rs1233491442	1151	I>V		No	ClinGen TOPMed gnomAD
CA293364573 rs760635404	1154	I>V		No	ClinGen gnomAD
rs749444290 CA8737022	1155	T>I		No	ClinGen ExAC gnomAD
CA400834617 rs1384007352	1158	M>K		No	ClinGen TOPMed
RCV000955218 CA8737020 rs144376773	1159	G>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1293487366 CA400834566	1160	Y>F		No	ClinGen TOPMed
rs201119286 CA8737019	1162	I>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1163	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400834526 rs1221697837	1164	T>A		No	ClinGen TOPMed gnomAD
CA8737018 COSM328415 rs746999126	1165	I>L	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	1166	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149619895 CA8737017	1167	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA400834437 rs1309348910	1168	Y>H		No	ClinGen gnomAD
CA8737016 rs758266305	1169	A>G		No	ClinGen ExAC gnomAD
CA8737015 rs750233721	1171	C>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1171	C>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8737014 RCV000905564 rs138252135	1173	I>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA400834290 rs1402657773	1177	Y>C		No	ClinGen TOPMed gnomAD
CA8737012 rs753489836	1179	L>F		No	ClinGen ExAC
rs763724389 CA8737011	1181	G>A		No	ClinGen ExAC TOPMed gnomAD
rs763724389 CA400834236	1181	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1243619987 CA400834141	1187	I>V		No	ClinGen Ensembl
rs758267708 CA8736996	1191	W>*		No	ClinGen ExAC TOPMed gnomAD
rs946279790 CA293364300	1192	K>N		No	ClinGen TOPMed gnomAD
CA8736995 rs745736109	1192	K>R		No	ClinGen ExAC gnomAD
rs913481619 CA293364297	1193	N>D		No	ClinGen TOPMed
CA8736994 rs778870974	1193	N>K		No	ClinGen ExAC gnomAD
CA8736993 rs757075616 COSM983607	1195	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs370220843 CA8736992	1195	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs370220843 CA8736991 COSM259266	1195	R>Q	Variant assessed as Somatic; 0.0002322 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs755708098 CA8736990	1196	K>N		No	ClinGen ExAC gnomAD
rs374905087 CA293364281	1196	K>R		No	ClinGen ESP TOPMed
TCGA novel	1197	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400833729 rs752143901	1198	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8736989 rs752143901	1198	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM983606 rs766984449 CA8736988	1199	D>G	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA400833717 rs1293352401	1199	D>N		No	ClinGen gnomAD
CA400833711 rs1293352401	1199	D>Y		No	ClinGen gnomAD
rs1312108520 CA400833691	1200	T>A		No	ClinGen gnomAD
rs752014389 CA8736986	1200	T>N		No	ClinGen ExAC
rs141602707 CA8736985	1201	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1377577578 CA400833615	1202	N>S		No	ClinGen gnomAD
CA8736984 rs763273648	1203	P>L		No	ClinGen ExAC TOPMed gnomAD
rs773475445 CA8736983	1204	W>G		No	ClinGen ExAC gnomAD
rs535300608 CA8736981	1206	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA293364251 rs901530070	1206	R>K		No	ClinGen Ensembl
rs1186332513 CA400833368	1210	A>P		No	ClinGen gnomAD
rs1385908725 CA400833331	1211	V>F		No	ClinGen TOPMed
CA293364243 rs139141677	1212	I>T		No	ClinGen ESP TOPMed gnomAD
rs778958910	1213	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs758909523 CA8736977	1213	S>L		No	ClinGen ExAC TOPMed gnomAD
rs905714563 CA293363883	1217	Q>*		No	ClinGen gnomAD
CA8736957 rs372276300	1220	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA293363868 rs1045944407	1221	W>*		No	ClinGen TOPMed gnomAD
rs749169708 CA8736954	1225	L>I		No	ClinGen ExAC gnomAD
rs536236223 CA293363842	1226	Q>E		No	ClinGen TOPMed
CA293363845 rs536236223	1226	Q>K		No	ClinGen TOPMed
rs1391884795 CA400832696	1228	Y>C		No	ClinGen TOPMed gnomAD
rs747788329 CA8736951	1229	E>D		No	ClinGen ExAC gnomAD
CA8736952 rs769580983	1229	E>V		No	ClinGen ExAC gnomAD
CA8736949 rs780868713	1231	K>N		No	ClinGen ExAC gnomAD
CA400832546 rs1252256685	1234	G>D		No	ClinGen TOPMed gnomAD
CA8736947 rs368305519	1236	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1424928018 CA400832507	1237	I>V		No	ClinGen TOPMed
rs1453296110 CA400832489	1238	R>*		No	ClinGen gnomAD
COSM324608 rs1267782966 CA400832486	1238	R>K	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	1240	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8736946 rs780609690	1241	P>T		No	ClinGen ExAC gnomAD
CA400832390 rs1262714918	1243	F>C		No	ClinGen gnomAD
TCGA novel	1243	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8736945 rs758914034	1244	R>G		No	ClinGen ExAC gnomAD
rs1425461312 CA400830657	1247	S>T		No	ClinGen gnomAD
CA8736916 rs146451743	1248	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776418291 CA8736913	1251	K>E		No	ClinGen ExAC TOPMed gnomAD
CA8736912 rs768384276	1252	N>S		No	ClinGen ExAC TOPMed gnomAD
rs768384276 CA400830555	1252	N>T		No	ClinGen ExAC TOPMed gnomAD
rs911133834 CA400830536	1253	R>K		No	ClinGen TOPMed gnomAD
rs911133834 CA293361492	1253	R>T		No	ClinGen TOPMed gnomAD
rs1366712999 CA400830479	1256	P>L		No	ClinGen TOPMed gnomAD
rs1598150276 CA400830483	1256	P>S		No	ClinGen Ensembl
CA293361484 rs999190166	1257	E>G		No	ClinGen Ensembl
CA400830426 rs1194564456	1258	P>S		No	ClinGen TOPMed gnomAD
CA400830411 rs1320701424	1259	P>A		No	ClinGen gnomAD
CA293361468 rs11544716 VAR_048129	1260	D>G		No	ClinGen UniProt TOPMed dbSNP
RCV000905563 rs142334264 CA8736909	1260	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA400830383 rs11544716	1260	D>V		No	ClinGen TOPMed
CA8736910 rs142334264	1260	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745366112 CA8736908	1262	E>G		No	ClinGen ExAC gnomAD
rs1449517693 CA400830305	1263	D>V		No	ClinGen gnomAD
CA8736905 rs779352563	1264	E>K		No	ClinGen ExAC TOPMed gnomAD
rs765869316 CA293361428	1269	K>E		No	ClinGen Ensembl
CA400830119 rs1408140147	1272	R>G		No	ClinGen TOPMed gnomAD
CA400830090 rs1444007352	1273	L>P		No	ClinGen gnomAD
CA400830081 rs1402450884	1274	K>E		No	ClinGen gnomAD
rs1351103510 CA400830069	1274	K>M		No	ClinGen TOPMed
CA8736903 rs375913077	1275	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8736902 rs778302597	1276	K>R		No	ClinGen ExAC TOPMed gnomAD
CA8736901 rs371254926	1277	E>D		No	ClinGen ESP ExAC gnomAD
COSM3937529 CA293361394 rs1043644485	1277	E>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1012526312 CA293361387	1277	E>V		No	ClinGen TOPMed
CA8736900 rs753009947	1279	M>I		No	ClinGen ExAC gnomAD
rs977846185 CA293361380	1281	C>S		No	ClinGen TOPMed
rs1352384792 CA400829901	1282	Q>*		No	ClinGen gnomAD
rs1567751283 CA400829716	1286	E>G		No	ClinGen Ensembl
CA8736885 rs557070265	1287	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8736883 rs748512700	1293	S>N		No	ClinGen ExAC gnomAD
COSM1731664 rs541631760 CA8736882	1294	N>S	NS [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
COSM308749 rs1278262112 CA400829206	1296	H>R	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA293361100 rs571314877	1297	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	1299	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8736881 rs755233645	1299	Y>H		No	ClinGen ExAC gnomAD
rs1222849028 CA400829060	1300	D>E		No	ClinGen gnomAD
TCGA novel	1301	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400828974 rs1451765703	1303	K>R		No	ClinGen gnomAD
CA8736880 rs534812777	1306	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs780208867 CA8736878	1308	S>*		No	ClinGen ExAC TOPMed gnomAD
rs780208867 CA400828845	1308	S>L		No	ClinGen ExAC TOPMed gnomAD
rs370467628 CA293361069	1309	R>K		No	ClinGen ESP TOPMed
CA8736877 rs758372248	1311	V>I		No	ClinGen ExAC TOPMed
rs1233436814 CA400828769	1312	K>R		No	ClinGen gnomAD
rs143171555 CA400828687	1315	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000905562 CA8736875 rs143171555	1315	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA400828675 rs1284759585	1315	A>V		No	ClinGen TOPMed gnomAD
rs1436935200 CA400828568	1318	Y>*		No	ClinGen gnomAD
CA293361030 rs377246697	1323	V>A		No	ClinGen ESP TOPMed gnomAD
CA293361045 rs78396941	1323	V>M		No	ClinGen Ensembl
CA400828411 rs1380959027	1324	K>I		No	ClinGen gnomAD
CA8736852 rs756055734	1326	G>E		No	ClinGen ExAC gnomAD
rs1287276008 CA400828389	1326	G>R		No	ClinGen gnomAD
CA400828251 rs1428493074	1327	E>G		No	ClinGen gnomAD
rs1159661741 CA400828235	1328	I>T		No	ClinGen TOPMed
rs977833064 CA293360818	1329	L>S		No	ClinGen Ensembl
COSM983602 CA8736848 rs751273723	1332	L>F	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA400828152 rs1242562614	1332	L>W		No	ClinGen gnomAD
CA8736847 rs765934554	1333	G>D		No	ClinGen ExAC gnomAD
CA293360809 rs761758132	1334	P>L		No	ClinGen Ensembl
CA8736846 rs762618973	1336	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1326754074 CA400828053	1337	A>T		No	ClinGen gnomAD
CA8736845 rs772855248	1342	I>V		No	ClinGen ExAC TOPMed gnomAD
rs570718516 CA8736843	1343	I>S		No	ClinGen ExAC gnomAD
rs570718516 CA8736844	1343	I>T		No	ClinGen ExAC gnomAD
rs1255900693 CA400827811	1344	N>S		No	ClinGen gnomAD
CA8736841 rs769108718	1346	L>P		No	ClinGen ExAC gnomAD
CA8736839 rs775844258	1352	P>T		No	ClinGen ExAC gnomAD
CA400827547 rs1394318759	1353	T>I		No	ClinGen gnomAD
CA400827506 COSM1385573 rs1303540015	1355	G>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1463262164 CA400826598	1357	V>L		No	ClinGen gnomAD
rs1378354759 CA400826586	1358	F>I		No	ClinGen TOPMed gnomAD
CA400826573 rs1180409451	1358	F>L		No	ClinGen gnomAD
rs1378354759 CA400826587	1358	F>L		No	ClinGen TOPMed gnomAD
rs200202329 CA293360165	1361	D>V		No	ClinGen gnomAD
rs772370812 CA8736820	1364	S>L		No	ClinGen ExAC gnomAD
TCGA novel	1365	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8736819 rs759783152	1367	S>G		No	ClinGen ExAC gnomAD
CA400826359 rs1489556923	1368	E>G		No	ClinGen gnomAD
rs1238354518 CA400826314	1369	D>E		No	ClinGen gnomAD
rs774522914 CA8736818	1369	D>G		No	ClinGen ExAC gnomAD
TCGA novel	1369	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774522914 CA400826321	1369	D>V		No	ClinGen ExAC gnomAD
rs771048225 CA8736817	1370	D>E		No	ClinGen ExAC gnomAD
CA8736816 rs749313667	1371	D>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1371	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1054821203 CA293360150	1373	L>R		No	ClinGen Ensembl
rs149087973 CA293360149	1375	C>R		No	ClinGen ESP
rs768483496 CA8736814	1375	C>Y		No	ClinGen ExAC gnomAD
rs1330556357 CA400826157	1376	M>V		No	ClinGen TOPMed
rs1388890292 CA400826141	1377	G>S		No	ClinGen gnomAD
CA400826116 rs1213062221	1379	C>R		No	ClinGen TOPMed
CA400826077 rs1598148620	1380	P>L		No	ClinGen Ensembl
COSM278515 CA400826041 rs1598148618	1381	Q>H	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1293775552 CA400825946	1384	P>A		No	ClinGen gnomAD
rs746908816 CA8736812	1387	P>T		No	ClinGen ExAC gnomAD
rs570461617 CA8736811	1389	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs570461617 CA400825795	1389	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA293360138 rs373187811	1390	T>A		No	ClinGen ESP TOPMed gnomAD
rs1196402344 CA400825740	1392	Q>K		No	ClinGen gnomAD
CA8736809 rs750143737	1394	H>N		No	ClinGen ExAC gnomAD
rs750143737 CA400825661	1394	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	1396	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1046071659 CA293360117	1397	I>M		No	ClinGen TOPMed gnomAD
rs756852984 CA8736807	1397	I>N		No	ClinGen ExAC gnomAD
rs928964846 CA293360110	1401	V>I		No	ClinGen Ensembl
rs753288573 CA8736806	1402	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	1402	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1414509999 CA400825373	1402	K>T		No	ClinGen TOPMed
CA8736805 rs763598777	1404	M>V		No	ClinGen ExAC gnomAD
rs1347707741 CA400825181	1407	S>N		No	ClinGen gnomAD
rs753207252 CA400825156	1408	D>A		No	ClinGen ExAC gnomAD
rs753207252 CA8736803	1408	D>G		No	ClinGen ExAC gnomAD
rs144975147 CA8736804	1408	D>N		No	ClinGen ESP ExAC TOPMed
TCGA novel	1409	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759871018 CA8736801	1409	M>T		No	ClinGen ExAC gnomAD
CA8736802 rs767907708	1409	M>V		No	ClinGen ExAC gnomAD
CA8736798 rs530470845	1412	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA8736799 rs199641093	1412	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8736800 rs199641093	1412	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1358302028 CA400824995	1413	I>V		No	ClinGen gnomAD
rs1299438692 CA400824977	1414	S>T		No	ClinGen gnomAD
rs533314210 CA293360076	1415	R>*		No	ClinGen TOPMed gnomAD
rs1420166075 CA400824957	1415	R>P		No	ClinGen TOPMed gnomAD
CA400824958 rs1420166075	1415	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs542515774 CA8736774	1416	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200810054 CA8736771	1420	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200810054 CA8736772	1420	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377542095 CA8736770	1421	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA8736769 rs747651434	1424	E>*		No	ClinGen ExAC TOPMed gnomAD
rs1330616634 CA400824635	1425	H>R		No	ClinGen gnomAD
rs780614063 CA8736768	1425	H>Y		No	ClinGen ExAC gnomAD
CA8736767 rs755489462	1427	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1430	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400824566 rs1402163195	1430	V>I		No	ClinGen TOPMed gnomAD
CA400824565 rs1402163195	1430	V>L		No	ClinGen TOPMed gnomAD
CA293359770 rs897501458	1434	P>S		No	ClinGen TOPMed gnomAD
CA8736765 rs766687347	1435	A>V		No	ClinGen ExAC gnomAD
CA8736763 rs750662706	1437	I>M		No	ClinGen ExAC gnomAD
CA8736762 rs372523620	1439	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
COSM983601 rs369202022 CA8736761	1439	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA8736742 rs757572144	1442	C>F		No	ClinGen ExAC gnomAD
rs1223273577 CA400824318	1443	F>C		No	ClinGen gnomAD
rs754069144 CA400824314	1444	A>S		No	ClinGen ExAC gnomAD
rs754069144 CA8736741	1444	A>T		No	ClinGen ExAC gnomAD
CA8736740 rs552514689	1444	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8736738 rs751509122	1445	L>V		No	ClinGen ExAC gnomAD
rs772229277 CA8736736	1446	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1197147469 CA400824293	1446	S>R		No	ClinGen TOPMed
CA8736734 rs139242970	1447	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773073518 CA8736735	1447	M>V		No	ClinGen ExAC TOPMed gnomAD
CA8736732 rs776237183	1452	Q>H		No	ClinGen ExAC gnomAD
rs1183685819 CA400824198	1454	T>A		No	ClinGen TOPMed
CA8736731 rs768206442	1457	D>E		No	ClinGen ExAC gnomAD
TCGA novel	1457	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400824131 rs1421625170	1459	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA400824112 rs1175947522	1460	S>F		No	ClinGen gnomAD
CA400824121 rs1184532406	1460	S>P		No	ClinGen gnomAD
CA8736730 rs746512679	1461	T>A		No	ClinGen ExAC gnomAD
rs1342075994 CA400824090	1462	G>A		No	ClinGen TOPMed gnomAD
CA400824094 rs1244827193	1462	G>S		No	ClinGen TOPMed
rs146689980 CA8736729	1464	D>G		No	ClinGen ESP ExAC gnomAD
CA8736728 rs772643034	1465	P>S		No	ClinGen ExAC gnomAD
CA8736727 rs746307111	1466	K>N		No	ClinGen ExAC gnomAD
CA8736726 rs779363752	1467	A>P		No	ClinGen ExAC gnomAD
rs375563778 CA8736725	1470	H>D		No	ClinGen ESP ExAC TOPMed
rs778126578 CA8736724	1470	H>L		No	ClinGen ExAC gnomAD
rs778126578 CA8736723	1470	H>P		No	ClinGen ExAC gnomAD
CA400823977 rs1300981304	1471	M>I		No	ClinGen TOPMed gnomAD
rs756327889 CA400823985	1471	M>L		No	ClinGen ExAC TOPMed gnomAD
CA8736722 rs756327889	1471	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1472	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8736700 COSM259265 rs143193092	1473	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA293358633 rs143193092	1473	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8736699 rs752814217	1473	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1474	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293358624 rs935670435	1475	I>V		No	ClinGen Ensembl
CA8736697 rs530230882	1476	R>*		No	ClinGen 1000Genomes ExAC gnomAD
CA8736696 rs750426352 COSM273817	1476	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8736695 rs757113904	1478	A>S		No	ClinGen ExAC gnomAD
rs757113904 CA8736694	1478	A>T		No	ClinGen ExAC gnomAD
CA8736693 rs753638194	1478	A>V		No	ClinGen ExAC gnomAD
CA400822882 rs925597618	1479	F>C		No	ClinGen TOPMed
rs1370039985 CA400822899	1479	F>L		No	ClinGen TOPMed
CA293358592 rs925597618	1479	F>S		No	ClinGen TOPMed
rs1370039985 CA400822891	1479	F>V		No	ClinGen TOPMed
rs763822136 CA8736692	1480	K>E		No	ClinGen ExAC gnomAD
CA8736690 COSM1385570 rs774971336	1484	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs201343208 CA8736691	1484	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8736689 rs551514958	1485	A>D		No	ClinGen ExAC TOPMed gnomAD
CA293358584 rs890246577	1485	A>S		No	ClinGen TOPMed
CA8736688 rs533376511	1487	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8736687 rs775063725	1488	L>P		No	ClinGen ExAC gnomAD
CA400822643 rs1419322534	1489	T>A		No	ClinGen TOPMed gnomAD
CA293358559 rs917145415	1490	T>A		No	ClinGen Ensembl
rs749753646 CA8736685	1493	M>V		No	ClinGen ExAC gnomAD
CA8736684 rs761010710	1494	E>*		No	ClinGen ExAC gnomAD
CA8736683 TCGA novel rs770014292	1494	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
CA400822374 rs1339133655	1496	A>P		No	ClinGen TOPMed
rs1252138029 CA400822339	1498	A>T		No	ClinGen gnomAD
rs748443758 CA8736682	1499	V>I		No	ClinGen ExAC TOPMed gnomAD
rs781250863 CA8736681	1500	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1317919305 CA400822297	1500	C>W		No	ClinGen TOPMed
rs747058800 CA8736679	1502	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1375340645 CA400822259	1502	R>Q	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1255669955 CA400822233	1503	V>A		No	ClinGen TOPMed
rs1311829425 CA400822252	1503	V>I		No	ClinGen gnomAD
rs1392363677 CA400822202	1505	I>V		No	ClinGen gnomAD
CA293358536 rs998678068	1506	M>V		No	ClinGen TOPMed gnomAD
CA8736678 rs202125416	1507	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8736676 rs139447246	1508	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs150696344 CA293358514	1510	Q>H		No	ClinGen ESP TOPMed gnomAD
CA400822077 rs1366889102	1510	Q>R		No	ClinGen TOPMed gnomAD
rs766953080 CA8736649	1515	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8736648 rs763575719	1517	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8736645 rs761451205	1518	Q>R		No	ClinGen ExAC gnomAD
CA8736644 rs201600235	1519	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8736642 rs376917230	1523	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs375026872 CA293357751	1524	F>S		No	ClinGen ESP TOPMed gnomAD
rs1477001864 CA400820835	1526	K>E		No	ClinGen gnomAD
CA400820798 rs1374850362	1527	G>D		No	ClinGen gnomAD
CA8736639 rs567661810	1529	F>I		No	ClinGen 1000Genomes ExAC gnomAD
rs567661810 CA400820767	1529	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs899788359 CA293357738	1533	K>T		No	ClinGen Ensembl
rs1356087103 CA400820621	1534	L>W		No	ClinGen TOPMed
CA400820577 rs1325798976	1535	K>N		No	ClinGen Ensembl
CA400820605 rs1413741930	1535	K>Q		No	ClinGen gnomAD
CA293357714 rs1018197698	1537	W>*		No	ClinGen gnomAD
rs1257868825 CA400820528	1537	W>C		No	ClinGen TOPMed gnomAD
rs1007574033 CA293357720	1537	W>R		No	ClinGen TOPMed
rs1018197698 CA400820538	1537	W>S		No	ClinGen gnomAD
rs778978598 CA8736637	1538	I>V		No	ClinGen ExAC gnomAD
rs1488868275 CA400820464	1541	L>I		No	ClinGen TOPMed
CA8736636 rs118115378	1542	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8736634 rs781240794	1543	V>A		No	ClinGen ExAC gnomAD
CA8736635 rs781240794	1543	V>E		No	ClinGen ExAC gnomAD
CA400820431 rs1271375267	1543	V>I		No	ClinGen gnomAD
CA400820398 rs1339749455	1544	D>G		No	ClinGen gnomAD
rs200779886 CA8736632	1545	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs200779886 CA400820376	1545	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM194188 rs370515109 CA8736631	1545	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs370515109 CA293357681	1545	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8736630 rs758907008	1548	R>T		No	ClinGen ExAC gnomAD
rs750887568 CA8736629	1550	I>T		No	ClinGen ExAC gnomAD
CA400820231 rs1420476480	1550	I>V		No	ClinGen TOPMed
rs765828096 CA8736628	1551	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1598144511 CA400820177	1552	Y>C		No	ClinGen Ensembl
rs369801152 CA293357669	1555	P>S		No	ClinGen ESP gnomAD
rs1156523004 CA400820035	1558	S>G		No	ClinGen TOPMed
rs1366846263 CA400820024	1558	S>R		No	ClinGen gnomAD
CA8736626 rs559974558	1559	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM437244 rs148561229 CA8736625	1559	R>H	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1197164363 CA400819983	1560	Q>P		No	ClinGen gnomAD
rs771852002 CA8736622	1562	S>G		No	ClinGen ExAC gnomAD
rs767208321 CA8736600	1562	S>R		No	ClinGen ExAC gnomAD
CA400819731 rs1378137180	1563	F>S		No	ClinGen TOPMed
rs768575875 CA8736599	1564	S>C		No	ClinGen ExAC
rs1304965715 CA400819665	1566	I>L		No	ClinGen gnomAD
CA400819532 rs1222691391	1568	A>D		No	ClinGen TOPMed
CA400819525 rs1222691391	1568	A>V		No	ClinGen TOPMed
CA8736596 rs766178091	1570	K>E		No	ClinGen ExAC TOPMed
CA400819438 rs1456433274	1570	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA293357369 rs930791779 COSM1479922	1572	P>L	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA293357367 rs930791779	1572	P>R		No	ClinGen TOPMed
rs1252105354 CA400819361	1573	K>E		No	ClinGen TOPMed
rs762959978 CA8736595	1574	E>K		No	ClinGen ExAC
rs776507277 CA8736594	1575	D>G		No	ClinGen ExAC
CA293357330 rs372775808	1581	Q>R		No	ClinGen ESP TOPMed
rs1045705489 CA293357325	1582	S>Y		No	ClinGen TOPMed
TCGA novel	1584	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141155276 CA8736592	1587	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA8736593 rs768850237	1587	E>G		No	ClinGen ExAC gnomAD
CA400818699 rs1360031777	1587	E>K		No	ClinGen TOPMed gnomAD
rs1409154604 CA400818669	1588	E>K		No	ClinGen gnomAD
rs910917944 CA293357312	1589	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA400817319 rs1431964214	1589	A>V		No	ClinGen gnomAD
rs749666297 CA8736566	1591	H>Y		No	ClinGen ExAC gnomAD
CA400817249 rs1480598235	1592	A>D		No	ClinGen gnomAD
rs775639651 CA293356483	1592	A>T		No	ClinGen Ensembl
CA8736565 rs778223624	1593	F>I		No	ClinGen ExAC TOPMed gnomAD
CA293356467 rs866503362	1594	A>V		No	ClinGen Ensembl
CA400817179 rs1598142413	1595	I>T		No	ClinGen Ensembl
CA8736564 rs147523276	1595	I>V		No	ClinGen ESP ExAC gnomAD
rs747608611 CA8736563	1596	E>G		No	ClinGen ExAC gnomAD
rs780693507 CA8736562	1597	E>D		No	ClinGen ExAC gnomAD
CA400817144 rs1459786279	1598	Y>D		No	ClinGen gnomAD
CA8736561 rs754519947	1599	S>I		No	ClinGen ExAC TOPMed gnomAD
CA8736558 rs759412787	1603	A>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8736559 rs759412787	1603	A>G		No	ClinGen ExAC TOPMed gnomAD
rs751218619 CA8736560	1603	A>T		No	ClinGen ExAC gnomAD
CA400817083 rs1216433076	1604	T>I		No	ClinGen gnomAD
rs750280986 CA8736557	1605	L>M		No	ClinGen ExAC TOPMed gnomAD
rs765222882 CA8736556	1605	L>S		No	ClinGen ExAC TOPMed gnomAD
CA8736555 rs573795896	1606	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1408754005 CA400817053	1607	Q>E		No	ClinGen gnomAD
rs757188239 CA8736538	1609	F>V		No	ClinGen ExAC gnomAD
rs1183930043 CA400816875	1611	E>A		No	ClinGen gnomAD
rs1207352365 CA400816860	1612	L>I		No	ClinGen TOPMed
rs1438819176 CA400816835	1613	T>S		No	ClinGen gnomAD
TCGA novel	1614	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8736537 rs753818317	1614	K>R		No	ClinGen ExAC gnomAD
CA8736536 rs778507172	1616	Q>E		No	ClinGen ExAC gnomAD
CA8736535 rs759632798	1617	E>K		No	ClinGen ExAC gnomAD
TCGA novel	1619	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400816612 rs1482989861	1622	S>R		No	ClinGen TOPMed
rs1451249431 CA400816594	1623	C>Y		No	ClinGen gnomAD
CA8736534 rs751624141	1624	G>E		No	ClinGen ExAC gnomAD
rs1264870161 CA400816588	1624	G>R		No	ClinGen gnomAD
CA400816566 rs1293175296	1625	T>I		No	ClinGen gnomAD
rs1362154276 CA400816573	1625	T>S		No	ClinGen gnomAD
CA400816522 rs1188857013	1628	S>N		No	ClinGen TOPMed
rs370658702 CA8736533	1631	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1633	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8736532 COSM3362318 rs377350256	1634	R>*	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8736531 COSM1243935 rs374390008	1634	R>Q	Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA400816394 rs1392707443	1635	T>I		No	ClinGen gnomAD
CA400816397 rs1392707443	1635	T>R		No	ClinGen gnomAD
CA400816381 rs1301939722	1636	Q>R		No	ClinGen gnomAD
TCGA novel	1637	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8736529 rs762221848	1638	D>G		No	ClinGen ExAC gnomAD
CA400816325 rs1366941400	1638	D>Y		No	ClinGen gnomAD
CA8736526 rs371487836	1640	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8736527 CA293356065 rs371487836	1640	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs774881364 CA8736525	1641	V>L		No	ClinGen ExAC gnomAD

No associated diseases with Q8WWZ7

2 regional properties for Q8WWZ7

Type	Name	Position	InterPro Accession
domain	ABC1 atypical kinase-like domain	93 - 344	IPR004147
domain	UbiB domain, bacteria	93 - 344	IPR045308

Functions

		Description
EC Number
Subcellular Localization	Golgi apparatus membrane ; Multi-pass membrane protein Lysosome membrane ; Multi-pass membrane protein Late endosome membrane ; Multi-pass membrane protein Cell membrane	Localized at cell membrane under high cholesterol levels
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
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.
late endosome	A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center.
late endosome membrane	The lipid bilayer surrounding a late endosome.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
lysosome	A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

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.

9 GO annotations of biological process

Name	Definition
cholesterol efflux	The directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle.
cholesterol homeostasis	Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell.
cholesterol metabolic process	The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues.
high-density lipoprotein particle remodeling	The acquisition, loss or modification of a protein or lipid within a high-density lipoprotein particle, including the hydrolysis of triglyceride by hepatic lipase, with the subsequent loss of free fatty acid, and the transfer of cholesterol esters from LDL to a triglyceride-rich lipoprotein particle by cholesteryl ester transfer protein (CETP), with the simultaneous transfer of triglyceride to LDL.
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.
negative regulation of macrophage derived foam cell differentiation	Any process that decreases the rate, frequency or extent of macrophage derived foam cell differentiation. Macrophage derived foam cell differentiation is the process in which a macrophage acquires the specialized features of a foam cell. A foam cell is a type of cell containing lipids in small vacuoles and typically seen in atherosclerotic lesions, as well as other conditions.
positive regulation of reverse cholesterol transport	Any process that activates or increases the frequency, rate or extent of reverse cholesterol transport.
regulation of cholesterol efflux	Any process that modulates the frequency, rate or extent of cholesterol efflux. Cholesterol efflux is the directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle.
reverse cholesterol transport	The directed movement of peripheral cell cholesterol, cholest-5-en-3-beta-ol, towards the liver for catabolism.

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
Q8WWZ4	ABCA10	ATP-binding cassette sub-family A member 10	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
Q8K449	Abca9	ATP-binding cassette sub-family A member 9	Mus musculus (Mouse)	PR
Q8K448	Abca5	Cholesterol transporter ABCA5	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
MSTAIREVGV	WRQTRTLLLK	NYLIKCRTKK	SSVQEILFPL	FFLFWLILIS	MMHPNKKYEE
70	80	90	100	110	120
VPNIELNPMD	KFTLSNLILG	YTPVTNITSS	IMQKVSTDHL	PDVIITEEYT	NEKEMLTSSL
130	140	150	160	170	180
SKPSNFVGVV	FKDSMSYELR	FFPDMIPVSS	IYMDSRAGCS	KSCEAAQYWS	SGFTVLQASI
190	200	210	220	230	240
DAAIIQLKTN	VSLWKELEST	KAVIMGETAV	VEIDTFPRGV	ILIYLVIAFS	PFGYFLAIHI
250	260	270	280	290	300
VAEKEKKIKE	FLKIMGLHDT	AFWLSWVLLY	TSLIFLMSLL	MAVIATASLL	FPQSSSIVIF
310	320	330	340	350	360
LLFFLYGLSS	VFFALMLTPL	FKKSKHVGIV	EFFVTVAFGF	IGLMIILIES	FPKSLVWLFS
370	380	390	400	410	420
PFCHCTFVIG	IAQVMHLEDF	NEGASFSNLT	AGPYPLIITI	IMLTLNSIFY	VLLAVYLDQV
430	440	450	460	470	480
IPGEFGLRRS	SLYFLKPSYW	SKSKRNYEEL	SEGNVNGNIS	FSEIIEPVSS	EFVGKEAIRI
490	500	510	520	530	540
SGIQKTYRKK	GENVEALRNL	SFDIYEGQIT	ALLGHSGTGK	STLMNILCGL	CPPSDGFASI
550	560	570	580	590	600
YGHRVSEIDE	MFEARKMIGI	CPQLDIHFDV	LTVEENLSIL	ASIKGIPANN	IIQEVQKVLL
610	620	630	640	650	660
DLDMQTIKDN	QAKKLSGGQK	RKLSLGIAVL	GNPKILLLDE	PTAGMDPCSR	HIVWNLLKYR
670	680	690	700	710	720
KANRVTVFST	HFMDEADILA	DRKAVISQGM	LKCVGSSMFL	KSKWGIGYRL	SMYIDKYCAT
730	740	750	760	770	780
ESLSSLVKQH	IPGATLLQQN	DQQLVYSLPF	KDMDKFSGLF	SALDSHSNLG	VISYGVSMTT
790	800	810	820	830	840
LEDVFLKLEV	EAEIDQADYS	VFTQQPLEEE	MDSKSFDEME	QSLLILSETK	AALVSTMSLW
850	860	870	880	890	900
KQQMYTIAKF	HFFTLKRESK	SVRSVLLLLL	IFFTVQIFMF	LVHHSFKNAV	VPIKLVPDLY
910	920	930	940	950	960
FLKPGDKPHK	YKTSLLLQNS	ADSDISDLIS	FFTSQNIMVT	MINDSDYVSV	APHSAALNVM
970	980	990	1000	1010	1020
HSEKDYVFAA	VFNSTMVYSL	PILVNIISNY	YLYHLNVTET	IQIWSTPFFQ	EITDIVFKIE
1030	1040	1050	1060	1070	1080
LYFQAALLGI	IVTAMPPYFA	MENAENHKIK	AYTQLKLSGL	LPSAYWIGQA	VVDIPLFFII
1090	1100	1110	1120	1130	1140
LILMLGSLLA	FHYGLYFYTV	KFLAVVFCLI	GYVPSVILFT	YIASFTFKKI	LNTKEFWSFI
1150	1160	1170	1180	1190	1200
YSVAALACIA	ITEITFFMGY	TIATILHYAF	CIIIPIYPLL	GCLISFIKIS	WKNVRKNVDT
1210	1220	1230	1240	1250	1260
YNPWDRLSVA	VISPYLQCVL	WIFLLQYYEK	KYGGRSIRKD	PFFRNLSTKS	KNRKLPEPPD
1270	1280	1290	1300	1310	1320
NEDEDEDVKA	ERLKVKELMG	CQCCEEKPSI	MVSNLHKEYD	DKKDFLLSRK	VKKVATKYIS
1330	1340	1350	1360	1370	1380
FCVKKGEILG	LLGPNGAGKS	TIINILVGDI	EPTSGQVFLG	DYSSETSEDD	DSLKCMGYCP
1390	1400	1410	1420	1430	1440
QINPLWPDTT	LQEHFEIYGA	VKGMSASDMK	EVISRITHAL	DLKEHLQKTV	KKLPAGIKRK
1450	1460	1470	1480	1490	1500
LCFALSMLGN	PQITLLDEPS	TGMDPKAKQH	MWRAIRTAFK	NRKRAAILTT	HYMEEAEAVC
1510	1520	1530	1540	1550	1560
DRVAIMVSGQ	LRCIGTVQHL	KSKFGKGYFL	EIKLKDWIEN	LEVDRLQREI	QYIFPNASRQ
1570	1580	1590	1600	1610	1620
ESFSSILAYK	IPKEDVQSLS	QSFFKLEEAK	HAFAIEEYSF	SQATLEQVFV	ELTKEQEEED
1630	1640
NSCGTLNSTL	WWERTQEDRV	VF