AiPD: Autoinhibited Protein Database

Q8IUA7

Gene name	ABCA9
Protein name	ATP-binding cassette sub-family A member 9
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10350
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

420-504 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

420-504 (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 Q8IUA7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IUA7-F1	Predicted				AlphaFoldDB

1310 variants for Q8IUA7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs747063365 TCGA novel CA8733376	3	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
rs536079418 CA8733375	5	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8733374 rs758640484	5	R>H		No	ClinGen ExAC TOPMed gnomAD
rs565520939 CA293331087	6	M>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs1005609452 CA293331104	6	M>T		No	ClinGen TOPMed
rs750692116 CA8733373	6	M>V		No	ClinGen ExAC gnomAD
rs192958871 CA8733372	7	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757682447 CA400821008	7	S>R		No	ClinGen ExAC TOPMed gnomAD
CA8733370 COSM1563688 rs754353946	8	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1053619228 CA293331069	9	G>A		No	ClinGen gnomAD
rs892351153 CA293331072	9	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA293331060 rs1000763199	10	Q>R		No	ClinGen Ensembl
rs1486144541 CA400820953	11	Q>K		No	ClinGen gnomAD
rs904866063 CA293331058	13	W>*		No	ClinGen gnomAD
rs534765015 CA8733368	14	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534765015 CA400820898	14	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400820889 rs1210180503	14	A>V		No	ClinGen gnomAD
CA400820870 rs1354353405	16	L>R		No	ClinGen TOPMed
CA400820853 rs1567974429	17	C>S		No	ClinGen Ensembl
rs752174809 CA8733367	21	L>F		No	ClinGen ExAC
CA8733366 rs767188382	21	L>P		No	ClinGen ExAC gnomAD
CA400820783 rs1212123591	22	K>E		No	ClinGen Ensembl
rs774215355 CA8733364	23	K>Q		No	ClinGen ExAC
CA8733363 rs766264664	23	K>T		No	ClinGen ExAC gnomAD
TCGA novel	24	W>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	29	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8733362 rs762669836	30	T>N		No	ClinGen ExAC gnomAD
CA400819797 rs1405428851	38	F>I		No	ClinGen gnomAD
CA400819745 rs1183677957	39	L>P		No	ClinGen gnomAD
rs762769331 CA8733343	42	L>P		No	ClinGen ExAC gnomAD
CA293330092 rs917322635	44	L>V		No	ClinGen Ensembl
CA293330090 rs377625668	45	Y>H		No	ClinGen ESP TOPMed gnomAD
TCGA novel	48	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400819345 rs772904801	50	N>K		No	ClinGen ExAC gnomAD
CA8733340 rs375678071	51	L>F		No	ClinGen ESP TOPMed gnomAD
CA8733339 rs765128505	52	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA8733338 rs761623577	53	Q>H		No	ClinGen ExAC gnomAD
CA8733337 rs199550588	54	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	56	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8733336 rs772123586	58	P>L		No	ClinGen ExAC gnomAD
rs745956567 CA8733335	61	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8733333 rs377484971	63	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs201012506 CA8733334	63	M>V		No	ClinGen ExAC TOPMed gnomAD
CA400818913 rs1471418335	64	D>Y		No	ClinGen gnomAD
rs1343053928 CA400818867	65	L>V		No	ClinGen gnomAD
rs749577797 CA8733332	66	G>E		No	ClinGen ExAC gnomAD
CA8733331 rs150105567	67	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8733330 rs150105567	67	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373549639 CA8733329	67	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs373549639 CA293330023	67	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369236722 CA293330018	68	V>L		No	ClinGen ESP
CA8733327 rs781768290	71	F>C		No	ClinGen ExAC gnomAD
rs951977958 CA293330015	71	F>L		No	ClinGen Ensembl
rs372033489 CA293330014	72	N>S		No	ClinGen TOPMed
CA293330011 rs368110653	78	I>T		No	ClinGen TOPMed gnomAD
rs1269818825 CA400818430	78	I>V		No	ClinGen gnomAD
CA400818402 rs1281441866	79	A>E		No	ClinGen gnomAD
CA293329999 rs1026706229	79	A>T		No	ClinGen TOPMed gnomAD
rs1332149865 CA400818315	82	P>S		No	ClinGen gnomAD
rs766006574 CA8733324	83	E>K		No	ClinGen ExAC gnomAD
rs868632511 CA293329988	84	S>F		No	ClinGen gnomAD
rs868632511 CA400818283	84	S>Y		No	ClinGen gnomAD
TCGA novel	85	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs974409800 CA293329981	87	T>I		No	ClinGen gnomAD
rs974409800 CA400818218	87	T>N		No	ClinGen gnomAD
TCGA novel	89	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8733322 rs750128332	91	M>T		No	ClinGen ExAC gnomAD
rs61741903 CA8733320	92	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1173588737 CA400818065	94	V>A		No	ClinGen gnomAD
CA8733319 rs753714659	95	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1598412352 CA400818022	96	S>L		No	ClinGen Ensembl
CA8733317 rs759568314	98	P>L		No	ClinGen ExAC gnomAD
rs774396519 CA8733316	102	G>*		No	ClinGen ExAC TOPMed gnomAD
rs774396519 CA400817885	102	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8733301 rs778637484	103	R>K		No	ClinGen ExAC gnomAD
rs756977011 CA8733300	104	T>R		No	ClinGen ExAC gnomAD
CA400816943 rs1245907390	105	I>T		No	ClinGen gnomAD
CA8733299 rs753659800	105	I>V		No	ClinGen ExAC TOPMed gnomAD
CA400816922 rs1357659199	106	M>I		No	ClinGen gnomAD
rs763967011 CA8733298	107	G>R		No	ClinGen ExAC TOPMed gnomAD
CA400816915 rs763967011	107	G>W		No	ClinGen ExAC TOPMed gnomAD
rs760578079 CA8733297	108	W>R		No	ClinGen ExAC gnomAD
CA8733296 rs752751426	108	W>S		No	ClinGen ExAC TOPMed gnomAD
CA8733295 rs766358083	109	P>T		No	ClinGen ExAC gnomAD
CA8733294 rs763108698	110	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1407532389 CA400816876	110	D>N		No	ClinGen gnomAD
rs367985525	113	S>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs773242838 CA8733293	113	S>C		No	ClinGen ExAC gnomAD
CA400816798 rs1411302805	114	M>V		No	ClinGen TOPMed gnomAD
rs1179070524 CA400816780	115	D>H		No	ClinGen TOPMed
CA400816738 rs1184372219	117	L>F		No	ClinGen TOPMed
CA8733291 rs770086711	117	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1473233567 CA400816726	118	D>G		No	ClinGen gnomAD
rs1363511637 CA400816701	120	N>D		No	ClinGen gnomAD
rs762220918 CA8733290	121	Y>C		No	ClinGen ExAC gnomAD
rs896985014 CA293327576	121	Y>H		No	ClinGen gnomAD
rs777113836 CA8733289	123	I>V		No	ClinGen ExAC TOPMed gnomAD
rs141903821 CA8733287	124	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780668341 CA400816611	125	A>S		No	ClinGen ExAC TOPMed gnomAD
rs780668341 COSM983525 CA8733286	125	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8733283 rs201775674	127	R>S		No	ClinGen 1000Genomes ExAC
CA8733284 rs745386341	127	R>T		No	ClinGen ExAC gnomAD
rs756921901 CA293327549	130	F>C		No	ClinGen ExAC TOPMed gnomAD
rs756921901 CA8733282	130	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs1351725144 CA400816492	135	S>F		No	ClinGen gnomAD
rs755963773 CA8733279	137	H>D		No	ClinGen ExAC gnomAD
rs755963773 CA8733280	137	H>Y		No	ClinGen ExAC gnomAD
CA8733277 rs767495555	138	L>F		No	ClinGen ExAC gnomAD
CA8733278 rs372403041	138	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8733276 rs369732553	139	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	140	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1207200601 CA400816350	142	W>*		No	ClinGen TOPMed
CA400816355 rs1308618234	142	W>S		No	ClinGen TOPMed
COSM1684846 rs866062920 CA293327483	143	G>E	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
COSM1684847 CA293327488 rs866938136	143	G>R	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1473714554 CA400816319	144	H>L		No	ClinGen gnomAD
rs1473714554 CA400816320	144	H>R		No	ClinGen gnomAD
rs376673872 CA8733274	145	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs879112506 CA293327478	146	I>V		No	ClinGen Ensembl
CA400816266 rs1204375037	147	P>L		No	ClinGen TOPMed
rs1249034804 CA400816259	148	M>V		No	ClinGen gnomAD
CA8733272 rs777059086	149	M>T		No	ClinGen ExAC gnomAD
rs764538288 CA400816204	150	K>N		No	ClinGen ExAC TOPMed gnomAD
rs761112317 CA8733270	151	E>G		No	ClinGen ExAC gnomAD
rs1206389759 CA400816182	152	H>Y		No	ClinGen gnomAD
rs775791398 CA8733269	155	H>D		No	ClinGen ExAC gnomAD
rs1567969786 CA400816110	156	S>P		No	ClinGen Ensembl
rs372545405 CA8733243	163	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8733244 rs774900812	163	N>Y		No	ClinGen ExAC gnomAD
CA8733242 rs748804125	164	E>G		No	ClinGen ExAC gnomAD
TCGA novel	166	M>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293327018 CA400815843 rs144854189	166	M>I		No	ClinGen ESP TOPMed gnomAD
rs753442189	166	M>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs769511303 CA8733239	170	G>C		No	ClinGen ExAC gnomAD
rs769511303 CA400815366	170	G>S		No	ClinGen ExAC gnomAD
rs747804704 CA8733238	170	G>V		No	ClinGen ExAC TOPMed gnomAD
rs569489180 CA293326949	172	E>Q		No	ClinGen 1000Genomes
rs1362325275 COSM1723452 CA400815334	173	F>L	NS [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA8733237 rs781010085	173	F>Y		No	ClinGen ExAC gnomAD
rs1598407811 CA400815317	174	W>G		No	ClinGen Ensembl
TCGA novel	177	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293326941 rs961369704	178	F>C		No	ClinGen TOPMed gnomAD
COSM1610681 CA400815248 rs1226771510	178	F>L	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA8733236 rs754796007	179	V>L		No	ClinGen ExAC
CA293326931 rs778088706	180	A>D		No	ClinGen TOPMed
CA400815226 rs778088706	180	A>V		No	ClinGen TOPMed
rs1303465516 CA400815204	182	Q>E		No	ClinGen gnomAD
CA8733235 rs746951865	183	A>P		No	ClinGen ExAC gnomAD
rs746951865 CA400815188	183	A>T		No	ClinGen ExAC gnomAD
CA400815174 rs536904724	184	A>S		No	ClinGen gnomAD
rs536904724 CA293326928	184	A>T		No	ClinGen gnomAD
rs369055026 CA8733234	184	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400815163 rs1397289394	185	I>V		No	ClinGen TOPMed gnomAD
rs202186227 CA293326909	186	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs202186227 CA8733232	186	N>T		No	ClinGen 1000Genomes ExAC gnomAD
CA8733231 rs753999541	187	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1163180931 CA400815117	187	A>V		No	ClinGen gnomAD
CA400815109 rs1421659101	188	A>V		No	ClinGen TOPMed gnomAD
rs778090046 CA8733230	189	I>V		No	ClinGen ExAC gnomAD
rs756332873 CA8733229	190	I>V		No	ClinGen ExAC gnomAD
rs1471944800 CA400815069	191	E>*		No	ClinGen gnomAD
rs567627438 CA8733228	191	E>D		No	ClinGen ExAC TOPMed gnomAD
rs148763506 CA293326889	191	E>G		No	ClinGen ESP
rs777966131	192	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs777966131 CA400814952	192	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1286211968 CA400814934	193	A>E		No	ClinGen Ensembl
rs756210320 CA400814939	193	A>P		No	ClinGen ExAC TOPMed gnomAD
CA8733211 rs756210320 COSM158791	193	A>T	endometrium Variant assessed as Somatic; 4.908e-05 impact. breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8733210 rs752910942	194	T>I		No	ClinGen ExAC gnomAD
rs1288677106 CA400814822	199	M>I		No	ClinGen gnomAD
CA400814829 rs373828683	199	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8733209 rs373828683	199	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs751944388 CA8733207	202	L>P		No	ClinGen ExAC gnomAD
rs145251776 CA8733206	204	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763419693 CA8733205	208	V>I		No	ClinGen ExAC gnomAD
rs763419693 CA400814630	208	V>L		No	ClinGen ExAC gnomAD
CA400814619 rs1434864571	209	H>P		No	ClinGen gnomAD
rs552851371 CA8733203	210	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA8733204 rs750996304	210	M>T		No	ClinGen ExAC gnomAD
CA8733202 rs776279700	211	K>E		No	ClinGen ExAC gnomAD
TCGA novel	211	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776279700 CA8733201	211	K>Q		No	ClinGen ExAC gnomAD
rs760493349 CA8733199	212	I>M		No	ClinGen ExAC gnomAD
rs369931231 CA8733200	212	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	212	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400814501 rs1422079545	213	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA400814396 rs1344315719	217	A>V		No	ClinGen TOPMed gnomAD
rs745793212 CA400814328	220	G>A		No	ClinGen ExAC TOPMed gnomAD
CA8733196 rs745793212	220	G>E		No	ClinGen ExAC TOPMed gnomAD
rs778732732 CA8733195	224	D>E		No	ClinGen ExAC gnomAD
CA400814172 rs1433431558	227	I>T		No	ClinGen TOPMed gnomAD
CA8733194 rs769847695	229	F>C		No	ClinGen ExAC gnomAD
rs1032763383 CA293326183	230	C>F		No	ClinGen TOPMed
TCGA novel	230	C>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8733192 rs781430409	233	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs755170806 CA8733191	236	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1400818231 CA400813966	236	T>P		No	ClinGen gnomAD
rs1400818231 CA400813967	236	T>S		No	ClinGen gnomAD
rs747272553 CA8733190	240	Y>C		No	ClinGen ExAC gnomAD
rs780394943 CA8733189	242	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8733188 rs758820062	243	V>G		No	ClinGen ExAC gnomAD
rs200175568 CA8733187	244	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1567968291 CA400813752	244	N>S		No	ClinGen Ensembl
TCGA novel	245	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8733185 rs765667063	246	T>S		No	ClinGen ExAC gnomAD
CA8733184 rs200948757	247	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	249	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753307180 CA8733183	250	Q>*		No	ClinGen ExAC gnomAD
rs763704973 CA8733182	251	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs371602640 COSM1385521 CA8733181	253	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs1331621608 CA400813442	255	L>S		No	ClinGen gnomAD
rs767366255 CA8733179	256	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1005097705 CA293326029	258	M>T		No	ClinGen Ensembl
rs759045642 CA8733178	259	M>I		No	ClinGen ExAC gnomAD
CA293326021 rs773614991	261	L>R		No	ClinGen gnomAD
CA400813247 COSM1385520 rs1372122909	262	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs61744800 CA400813241	262	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61744800 COSM3691750 CA8733177	262	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA400813234 rs1567968154	263	E>K		No	ClinGen Ensembl
CA8733176 rs770799700	264	S>L		No	ClinGen ExAC gnomAD
rs749298586 CA8733175	265	A>V		No	ClinGen ExAC gnomAD
CA400813095 rs1424409933	267	W>*		No	ClinGen gnomAD
rs775649552 CA8733154	267	W>C		No	ClinGen ExAC gnomAD
TCGA novel	268	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1398989591 CA400859331	272	L>F		No	ClinGen TOPMed
CA8733151 rs779111210	273	M>I		No	ClinGen ExAC gnomAD
CA8733152 rs368599340	273	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs772303346 CA8733153	273	M>V		No	ClinGen ExAC gnomAD
CA293353667 rs987866272	274	Y>C		No	ClinGen TOPMed
CA400859307 rs1329094837	276	G>S		No	ClinGen TOPMed gnomAD
CA400859288 rs1325340787	277	F>Y		No	ClinGen gnomAD
rs1317598842 CA400859254	280	I>F		No	ClinGen TOPMed
rs781625719 CA293353653	281	M>I		No	ClinGen Ensembl
rs749741933 CA8733149	282	A>D		No	ClinGen ExAC
CA400859223 rs1441880612	282	A>S		No	ClinGen TOPMed gnomAD
CA400859227 rs1441880612	282	A>T		No	ClinGen TOPMed gnomAD
rs1157021277 CA400859174	285	M>I		No	ClinGen gnomAD
rs370072409 CA8733146	286	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA8733147 rs755647949	286	A>T		No	ClinGen ExAC gnomAD
CA8733144 rs61744902	288	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA293353621 rs75878454	289	V>L		No	ClinGen Ensembl
CA400859103 rs1248796660	291	S>C		No	ClinGen gnomAD
CA8733143 rs751292337	292	A>P		No	ClinGen ExAC gnomAD
CA8733142 rs766075944	292	A>V		No	ClinGen ExAC gnomAD
CA400859091 rs967840095	293	Q>*		No	ClinGen TOPMed gnomAD
CA293353614 rs967840095	293	Q>E		No	ClinGen TOPMed gnomAD
CA400859088 rs967840095	293	Q>K		No	ClinGen TOPMed gnomAD
rs146264007 CA8733140	296	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400859025 rs1342837052	298	T>P		No	ClinGen gnomAD
CA400859007 rs1276396443	299	G>A		No	ClinGen gnomAD
rs1159988234 CA400858976	302	M>V		No	ClinGen TOPMed
CA8733135 rs777687596	305	T>I		No	ClinGen ExAC TOPMed gnomAD
rs759669872 CA8733134	310	Y>H		No	ClinGen ExAC gnomAD
CA8733132 rs375776691	313	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs148236086 CA8733133	313	S>P		No	ClinGen ESP ExAC gnomAD
rs759671608 CA8733113	315	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1211447641 CA400858675	321	M>I		No	ClinGen gnomAD
rs201325961 CA8733112	322	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201325961 CA8733111	322	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1272171876 CA400858666	323	V>L		No	ClinGen gnomAD
rs773684250 CA8733109	325	I>M		No	ClinGen ExAC TOPMed gnomAD
CA400858651 rs1471487448	325	I>T		No	ClinGen TOPMed gnomAD
CA8733110 rs763138522	325	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8733108 rs199824153	326	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400858643 rs1226823429	327	K>Q		No	ClinGen gnomAD
CA8733107 rs553431589	328	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs767986919 CA400858613	331	T>K		No	ClinGen ExAC TOPMed gnomAD
rs767986919 CA8733105	331	T>M		No	ClinGen ExAC TOPMed gnomAD
CA8733103 rs779522809	333	L>M		No	ClinGen ExAC gnomAD
CA8733102 rs201472998	334	V>I		No	ClinGen ExAC TOPMed gnomAD
rs201472998 CA400858599	334	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1419364647 CA400858590	335	V>G		No	ClinGen gnomAD
rs745559004 CA400858594 CA400858593	335	V>L		No	ClinGen ExAC gnomAD
rs745559004 CA8733101	335	V>M		No	ClinGen ExAC gnomAD
rs778671001 CA8733100	337	L>P		No	ClinGen ExAC gnomAD
TCGA novel	338	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400858566 rs1598398351	339	I>T		No	ClinGen Ensembl
rs1472220528 CA400858569	339	I>V		No	ClinGen gnomAD
CA8733099 rs757097783	340	V>I		No	ClinGen ExAC gnomAD
CA293353362 rs1042901340	342	W>*		No	ClinGen TOPMed
CA8733098 rs535046995	343	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs943577322 CA293353360	343	G>R		No	ClinGen Ensembl
rs111283287 CA293353341	345	L>P		No	ClinGen Ensembl
rs754966702 CA8733096	346	G>R		No	ClinGen ExAC gnomAD
TCGA novel	347	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8733095 rs751640003	348	P>L		No	ClinGen ExAC gnomAD
VAR_027594 rs1860447 CA8733093	353	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA400858469 rs1392511646	355	P>S		No	ClinGen gnomAD
rs763267867 CA8733092	356	A>E		No	ClinGen ExAC gnomAD
TCGA novel	358	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	360	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400858436 rs1276254807	360	W>R		No	ClinGen TOPMed
CA400858424 rs773626910	361	T>I		No	ClinGen ExAC gnomAD
CA8733091 rs773626910	361	T>N		No	ClinGen ExAC gnomAD
CA400858417 rs894249908	362	L>F		No	ClinGen TOPMed
CA400858416 rs1433818769	363	C>R		No	ClinGen gnomAD
CA400858405 rs1270559214	364	L>I		No	ClinGen TOPMed gnomAD
CA400858399 rs1440139182	365	L>F		No	ClinGen TOPMed
CA8733088 rs762274176	367	P>L		No	ClinGen ExAC
rs1164989438 CA400858383	367	P>S		No	ClinGen TOPMed gnomAD
rs1161142897 CA400858352	372	V>I		No	ClinGen gnomAD
rs1419619579 CA400858338	374	M>L		No	ClinGen gnomAD
CA400858322 rs1266380684	376	Q>L		No	ClinGen gnomAD
CA8733063 rs374577561	378	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs765589509 CA8733064	378	I>T		No	ClinGen ExAC TOPMed gnomAD
rs777030715 CA8733062	379	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA400858290 rs1180832327	379	H>Y		No	ClinGen TOPMed gnomAD
CA8733061 COSM1303259 rs138456095	382	Y>C	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
TCGA novel	386	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400858234 rs1207321558	387	N>D		No	ClinGen gnomAD
CA400858227 rs1328942270	388	A>T		No	ClinGen TOPMed gnomAD
rs1452761556 CA400858222	388	A>V		No	ClinGen TOPMed
rs771508494 CA8733058	389	H>R		No	ClinGen ExAC gnomAD
CA293352489 rs1006530348	392	S>Y		No	ClinGen TOPMed
rs1375060969 CA400858173	395	N>K		No	ClinGen gnomAD
CA8733056 rs759048959	396	P>S		No	ClinGen ExAC gnomAD
rs1254202372 CA400858162	397	Y>*		No	ClinGen TOPMed gnomAD
rs773949616 CA8733055	397	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs773949616 CA400858167	397	Y>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	401	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	402	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769538648 CA8733051	405	M>I		No	ClinGen ExAC gnomAD
CA8733052 rs777624281	405	M>T		No	ClinGen ExAC gnomAD
CA8733053 rs138002471	405	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1227750002 CA400858098	407	V>D		No	ClinGen gnomAD
CA293352451 rs1055810885	409	D>N		No	ClinGen Ensembl
CA293352450 rs1003312838	410	T>N		No	ClinGen TOPMed gnomAD
rs758514906 CA8733048	411	L>F		No	ClinGen ExAC gnomAD
CA8733047 rs750554922	412	L>M		No	ClinGen ExAC gnomAD
rs779181484 CA8733046	415	V>L		No	ClinGen ExAC gnomAD
rs764502039 CA8733043	419	Y>C		No	ClinGen ExAC
CA8733044 rs754074590	419	Y>H		No	ClinGen ExAC gnomAD
CA400858018 rs1168665191	420	F>V		No	ClinGen gnomAD
CA400858006 rs1405895757	421	D>E		No	ClinGen TOPMed
rs1383949849 CA400858007	421	D>V		No	ClinGen TOPMed
TCGA novel	422	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8733041 rs760956871	424	L>W		No	ClinGen ExAC gnomAD
rs146940647	425	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs868003752 CA293352404	425	P>S		No	ClinGen Ensembl
CA8733039 rs141104514	426	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs777859012 CA8733023	427	E>K		No	ClinGen ExAC gnomAD
rs1411368756 CA400857567	428	Y>C		No	ClinGen gnomAD
rs1471470643 CA400857550	430	H>Q		No	ClinGen gnomAD
rs1157292105 CA400857554	430	H>Y		No	ClinGen gnomAD
rs267605020 COSM1385518 CA293351413	431	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs756457606 CA400857546	431	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8733022 rs756457606 COSM69483	431	R>Q	ovary Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs747342885 CA293351399	432	C>R		No	ClinGen gnomAD
rs1250692994 CA400857543	432	C>Y		No	ClinGen gnomAD
rs753023052 CA8733021	434	P>A		No	ClinGen ExAC gnomAD
CA8733020 rs767911942	434	P>H		No	ClinGen ExAC gnomAD
CA293351377 rs1046308881	436	F>S		No	ClinGen Ensembl
rs1485853275 CA400857510	437	F>S		No	ClinGen TOPMed
CA8733017 rs765822744	440	S>C		No	ClinGen ExAC TOPMed gnomAD
CA8733018 rs765822744	440	S>F		No	ClinGen ExAC TOPMed gnomAD
CA8733016 rs762375544	443	W>*		No	ClinGen ExAC gnomAD
TCGA novel	443	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8733014 rs764821055	447	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8733013 rs761578039	448	R>K		No	ClinGen ExAC TOPMed gnomAD
rs777863279 CA400857426	449	A>P		No	ClinGen TOPMed
CA293351340 rs777863279	449	A>T		No	ClinGen TOPMed
CA400857383 rs1402953747	452	V>M		No	ClinGen gnomAD
rs1376481024 CA400857370	453	V>I		No	ClinGen TOPMed
CA400857352 rs1437017893	454	L>P		No	ClinGen TOPMed
CA400857321 rs1567959063	456	N>K		No	ClinGen Ensembl
CA400857290 rs1254159066	458	T>I		No	ClinGen gnomAD
rs1172522231 CA400857261	461	D>N		No	ClinGen gnomAD
rs1172522231 CA400857258	461	D>Y		No	ClinGen gnomAD
CA400857234 rs1397304256	463	T>A		No	ClinGen gnomAD
CA400857227 rs1195056128	463	T>I		No	ClinGen gnomAD
CA8733010 rs560410844	465	N>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1213116928 CA400857192	465	N>K		No	ClinGen gnomAD
rs1240977612 CA400857203	465	N>S		No	ClinGen gnomAD
CA400857150 rs1212072939	467	C>G		No	ClinGen gnomAD
CA8733008 rs578098047	470	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs578098047 CA8733007	470	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1199806059 CA400857068	471	V>L		No	ClinGen gnomAD
rs1199806059 CA400857070	471	V>M		No	ClinGen gnomAD
rs954257091 CA293351301	472	S>F		No	ClinGen gnomAD
CA400856941 rs1305417837	479	E>K		No	ClinGen gnomAD
rs1235260215 CA400856931	479	E>V		No	ClinGen gnomAD
rs555858738 CA293351293	480	A>T		No	ClinGen 1000Genomes
rs756261665 CA8733005	482	R>K		No	ClinGen ExAC gnomAD
rs1237823631 CA400856858	483	I>T		No	ClinGen TOPMed
rs1163666608 CA400856860	483	I>V		No	ClinGen gnomAD
rs1259459806 CA400856842	485	N>S		No	ClinGen TOPMed gnomAD
rs142916779 CA8732985	486	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8732984 rs148542361	491	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1206861521 CA400856797	491	A>V		No	ClinGen gnomAD
rs1166236071 CA400856792	492	G>A		No	ClinGen gnomAD
rs1483666144 CA400856786	493	K>T		No	ClinGen TOPMed
CA8732981 rs201884899	494	C>R		No	ClinGen ESP ExAC gnomAD
rs935471525 CA293349533	496	R>K		No	ClinGen gnomAD
rs935471525 CA400856765	496	R>T		No	ClinGen gnomAD
CA400856756 rs1294369546	497	V>A		No	ClinGen gnomAD
rs780519375 CA8732980	499	A>T		No	ClinGen ExAC gnomAD
COSM365705 rs776280022 CA8732952	502	G>D	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8732979 rs758803177	502	G>S		No	ClinGen ExAC TOPMed gnomAD
rs776280022 CA293348924	502	G>V		No	ClinGen ExAC TOPMed gnomAD
CA8732951 rs756787936	504	V>M		No	ClinGen ExAC gnomAD
rs146809474 CA400856704	505	F>I		No	ClinGen ESP ExAC gnomAD
CA8732950 rs146809474	505	F>L		No	ClinGen ESP ExAC gnomAD
CA293348916 rs371068254	505	F>S		No	ClinGen ESP TOPMed gnomAD
rs1262949213 CA400856687	507	I>T		No	ClinGen gnomAD
CA8732949 rs367606609	507	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1217178445 CA400856683	508	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs755795064 CA8732948	510	G>D		No	ClinGen ExAC gnomAD
CA400856645 rs1278702835	513	T>I		No	ClinGen gnomAD
CA8732945 rs373695936	516	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA293348884 rs903597516	517	G>A		No	ClinGen gnomAD
rs370609961 CA8732944	517	G>C		No	ClinGen ESP ExAC
CA8732942 rs370609961	517	G>R		No	ClinGen ESP ExAC
rs766367020 CA8732941	520	G>R		No	ClinGen ExAC TOPMed gnomAD
CA400856591 rs1221587520	522	G>E		No	ClinGen TOPMed
rs948187496 CA293348872	523	K>R		No	ClinGen Ensembl
TCGA novel	524	T>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8732939 rs762930718	527	L>F		No	ClinGen ExAC gnomAD
CA400856520 rs1274773351	531	S>I		No	ClinGen TOPMed
CA400856479 rs1171601054	534	S>A		No	ClinGen gnomAD
CA8732938 rs776664778 COSM3796006	536	P>A	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs776664778 CA293348859	536	P>S		No	ClinGen ExAC gnomAD
CA400856434 rs1395858798	537	T>I		No	ClinGen gnomAD
rs1174854973 CA400856048	541	V>D		No	ClinGen gnomAD
CA400856051 rs1402227510	541	V>L		No	ClinGen gnomAD
CA293348533 rs894882977	543	V>A		No	ClinGen gnomAD
rs1465022655 CA400856027	543	V>F		No	ClinGen gnomAD
CA400856009 rs1473775780	544	Y>*		No	ClinGen gnomAD
rs143613059 CA8732922	544	Y>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400855976 rs1250282616	547	T>P		No	ClinGen gnomAD
rs1479476967 CA400855927	550	R>S		No	ClinGen gnomAD
rs1567955902 CA400855925	551	M>V		No	ClinGen Ensembl
CA400855889 rs1252541416	553	D>G		No	ClinGen gnomAD
rs1249897360 CA400855893	553	D>Y		No	ClinGen gnomAD
CA400855875 rs1003660731	554	I>K		No	ClinGen TOPMed
CA293348531 rs1003660731	554	I>T		No	ClinGen TOPMed
CA293348521 rs764099833	557	I>S		No	ClinGen ExAC TOPMed gnomAD
rs764099833 CA8732919	557	I>T		No	ClinGen ExAC TOPMed gnomAD
CA400855835 rs1333533189	557	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1235087654 CA400855807	559	K>E		No	ClinGen gnomAD
CA400855740 rs1327984585	564	C>G		No	ClinGen gnomAD
CA293348508 rs1048421107	567	S>F		No	ClinGen Ensembl
CA400855698 rs1389889407	567	S>T		No	ClinGen gnomAD
CA8732916 rs538535202	568	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8732915 rs759724780	569	V>M		No	ClinGen ExAC gnomAD
CA8732913 rs771487427	570	Q>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	572	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749757445 CA8732911	579	N>T		No	ClinGen ExAC gnomAD
TCGA novel	580	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	581	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	583	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs930921576 CA293348458	585	K>E		No	ClinGen gnomAD
CA8732908 rs769389714	585	K>I		No	ClinGen ExAC gnomAD
rs140006071 CA8732907	586	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA400855422 rs1270781825	588	G>E		No	ClinGen gnomAD
rs780620879 CA8732906	588	G>R		No	ClinGen ExAC gnomAD
TCGA novel	589	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8732905 rs146276148	590	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA293348443 rs767942806	590	L>V		No	ClinGen gnomAD
CA400855361 rs1236536352	593	E>K		No	ClinGen TOPMed gnomAD
CA8732904 rs746709572	595	E>V		No	ClinGen ExAC gnomAD
rs779814107 CA8732903	596	K>E		No	ClinGen ExAC gnomAD
rs960113079 CA293348404	597	E>K		No	ClinGen TOPMed
CA8732886 rs779683420	599	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1335682174 CA400855264	600	R>*		No	ClinGen gnomAD
rs1225266364 CA8732884	600	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA400855252 rs1263623480	601	V>D		No	ClinGen gnomAD
rs149312047 CA8732882	601	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149312047 CA8732883	601	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400855217 rs1345476821	604	E>*		No	ClinGen gnomAD
CA400855210 rs1282689608	604	E>V		No	ClinGen TOPMed gnomAD
rs1220059052 CA400855192	605	L>F		No	ClinGen gnomAD
CA293348208 rs925648820	606	E>V		No	ClinGen TOPMed
CA400855146 rs1338802675	608	E>D		No	ClinGen gnomAD
rs778728278 CA8732881	611	Q>*		No	ClinGen ExAC gnomAD
CA400855100 rs1489664524	612	D>H		No	ClinGen TOPMed
rs757186794 CA8732880	613	I>F		No	ClinGen ExAC gnomAD
rs753783829 CA8732879	613	I>T		No	ClinGen ExAC gnomAD
CA400855053 rs1160473427	615	A>G		No	ClinGen gnomAD
CA8732876 rs751794246	616	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA8732875 rs766731306	617	N>H		No	ClinGen ExAC TOPMed gnomAD
CA400854998 rs1165719244	619	S>I		No	ClinGen gnomAD
CA8732872 rs79212004	620	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400854981 rs1598390142	621	G>R		No	ClinGen Ensembl
rs868166445 CA293348160	621	G>V		No	ClinGen Ensembl
CA293348139 rs995437296	622	Q>H		No	ClinGen Ensembl
TCGA novel	626	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8732869 rs777019740	627	T>I		No	ClinGen ExAC gnomAD
CA8732867 rs554612476	630	I>N		No	ClinGen ExAC TOPMed gnomAD
rs554612476 CA293348106	630	I>T		No	ClinGen ExAC TOPMed gnomAD
COSM473270 rs1270959979 CA400854733	632	I>V	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs775070525 CA8732866	633	L>V		No	ClinGen ExAC gnomAD
rs181337318 CA8732865	635	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs993012242 CA293348102	635	D>N		No	ClinGen TOPMed
rs1293166752 CA400854615	637	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	637	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400854516 rs1351492737	638	V>A		No	ClinGen gnomAD
rs1459799404 CA400854525	638	V>I		No	ClinGen gnomAD
CA293347929 rs1031462415	642	D>N		No	ClinGen TOPMed gnomAD
rs773108471 CA8732841	644	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8732842 rs749061966	644	P>S		No	ClinGen ExAC TOPMed gnomAD
rs780272873 CA293347915	645	T>A		No	ClinGen ExAC TOPMed gnomAD
rs780272873 CA8732838	645	T>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	647	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1215732846 CA400854367	648	L>V		No	ClinGen gnomAD
CA400854342 rs1387051532	650	P>T		No	ClinGen gnomAD
rs1315483052 CA400854322	653	R>K		No	ClinGen gnomAD
TCGA novel	653	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8732836 rs746024193	655	R>*		No	ClinGen ExAC TOPMed gnomAD
CA400854309 rs746024193	655	R>G		No	ClinGen ExAC TOPMed gnomAD
CA400854308 COSM1181281 rs1406315291	655	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1377258830 CA400854295	657	W>*		No	ClinGen gnomAD
TCGA novel	657	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8732835 rs779031465	659	L>I		No	ClinGen ExAC gnomAD
TCGA novel	660	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8732834 rs757589916	661	K>R		No	ClinGen ExAC gnomAD
CA400854247 rs1399848052	662	E>D		No	ClinGen TOPMed
CA8732833 rs754125835	663	G>R		No	ClinGen ExAC
rs1395216981 CA400854219	664	K>R		No	ClinGen TOPMed
rs1293986406 CA400854112	671	F>V		No	ClinGen gnomAD
rs764556997 CA8732831	672	S>I		No	ClinGen ExAC gnomAD
CA400854050 rs1343180899	674	Q>H		No	ClinGen gnomAD
CA400854030 rs756607780	676	I>L		No	ClinGen ExAC gnomAD
CA8732830 rs756607780	676	I>V		No	ClinGen ExAC gnomAD
rs1420521649 CA400854011	677	D>H		No	ClinGen gnomAD
CA8732828 rs766954646	678	E>K		No	ClinGen ExAC gnomAD
TCGA novel	679	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293347871 rs1043117792	680	D>G		No	ClinGen TOPMed
rs1186414424 CA400853939	681	I>V		No	ClinGen gnomAD
CA8732825 rs375200231	683	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1347619345 CA400853918	684	D>N		No	ClinGen gnomAD
rs1402570196 CA400853863	689	I>M		No	ClinGen TOPMed gnomAD
rs1451902218 CA400853865	689	I>T		No	ClinGen gnomAD
TCGA novel	692	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765061345 CA8732804	693	K>R		No	ClinGen ExAC gnomAD
CA8732802 rs199957610	694	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1598388868 CA400853824	695	K>N		No	ClinGen Ensembl
rs774287545 CA8732799	699	S>F		No	ClinGen ExAC TOPMed gnomAD
CA8732798 rs771100411	700	S>P		No	ClinGen ExAC gnomAD
CA8732797 rs749412818	702	F>L		No	ClinGen ExAC gnomAD
CA8732796 rs765312020	703	L>P		No	ClinGen ExAC gnomAD
rs770102334 CA8732795	704	K>R		No	ClinGen ExAC TOPMed gnomAD
rs770102334 CA400853773	704	K>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	708	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1187785672 CA400853736	709	I>T		No	ClinGen TOPMed
rs781578352 CA8732793	709	I>V		No	ClinGen ExAC TOPMed gnomAD
CA400853700 rs1306496390	712	H>L		No	ClinGen gnomAD
rs937884708 CA293347551	714	S>I		No	ClinGen TOPMed gnomAD
rs775508966 CA8732781	718	N>K		No	ClinGen ExAC gnomAD
rs770848818 CA8732780	719	E>D		No	ClinGen ExAC gnomAD
CA400852840 rs1329449652	720	R>S		No	ClinGen gnomAD
CA8732779 rs200082054	721	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1387909946 CA400852817	722	D>H		No	ClinGen TOPMed gnomAD
CA400852814 rs1387909946	722	D>Y		No	ClinGen TOPMed gnomAD
CA400852785 rs1384694018	723	P>L		No	ClinGen gnomAD
CA8732778 rs773330071	724	E>G		No	ClinGen ExAC gnomAD
CA8732776 rs748438160	725	S>C		No	ClinGen ExAC TOPMed gnomAD
rs781524962 CA8732775	725	S>I		No	ClinGen ExAC gnomAD
rs748438160 CA8732777	725	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1170632151 CA400852750	726	I>V		No	ClinGen gnomAD
rs375203497 CA8732773	732	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA293346546 rs984612631	732	Q>P		No	ClinGen TOPMed gnomAD
CA293346542 rs199911359	733	H>R		No	ClinGen Ensembl
CA8732772 rs780646102	734	I>V		No	ClinGen ExAC gnomAD
rs757801696 CA8732771	735	S>F		No	ClinGen ExAC gnomAD
rs371878245 CA8732769	736	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8732767 rs756963636	737	A>G		No	ClinGen ExAC gnomAD
rs1342934421 CA400852545	740	T>A		No	ClinGen gnomAD
CA400852510 rs1598386461	742	Q>R		No	ClinGen Ensembl
rs897035925 CA293346530	745	E>*		No	ClinGen TOPMed
CA293346529 rs966069425	745	E>G		No	ClinGen Ensembl
CA293346524 rs374064269 COSM1385514	748	V>I	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA8732765 rs138044644	749	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs763922919 CA8732764	750	I>V		No	ClinGen ExAC gnomAD
CA8732763 rs760521334	755	R>M		No	ClinGen ExAC gnomAD
TCGA novel	755	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8732761 rs752536538	760	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	764	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1398950693 CA400851021	764	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs372923960 CA8732741	765	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	766	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8732740 rs146950365	768	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA400850990 CA8732738 rs776789549	768	R>S		No	ClinGen ExAC gnomAD
CA8732739 rs761914979	768	R>T		No	ClinGen ExAC gnomAD
rs1217124633 CA400850977	770	S>C		No	ClinGen TOPMed
rs1239390846 CA400850974	771	N>D		No	ClinGen gnomAD
rs201779145 CA8732737	771	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1272950105 CA400850960	772	Q>*		No	ClinGen TOPMed gnomAD
CA293341629 rs868494226	773	G>D		No	ClinGen Ensembl
rs142708396 CA8732736	774	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	775	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1266827951 CA400850911	776	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1201064889 CA400850890	777	Y>C		No	ClinGen gnomAD
rs1329114903 CA400850871	779	V>I		No	ClinGen TOPMed
rs775915587 CA8732735	780	S>A		No	ClinGen ExAC gnomAD
CA8732734 rs189147388	780	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA400850839 rs1285542886	781	I>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
VAR_027595 rs17684521 CA8732731	785	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA400850779 rs1487508588	786	E>A		No	ClinGen TOPMed
TCGA novel	786	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201495945 CA8732730	787	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs201495945 CA400850770	787	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs770242782 CA8732728	796	T>A		No	ClinGen ExAC TOPMed gnomAD
rs770242782 CA293341598	796	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1164032065 CA400850622	798	D>G		No	ClinGen gnomAD
rs777197161 CA8732727	798	D>H		No	ClinGen ExAC gnomAD
rs777197161 CA293341578	798	D>Y		No	ClinGen ExAC gnomAD
rs926118974 CA293340605 COSM1644356	802	I>T	salivary_gland [Cosmic]	No	ClinGen cosmic curated TOPMed
rs772765828 CA8732694	802	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8732693 rs769203173	805	W>*		No	ClinGen ExAC gnomAD
rs978884105 CA293340604	805	W>*		No	ClinGen TOPMed gnomAD
rs973933098 CA293340589	809	Q>L		No	ClinGen gnomAD
rs747770936 CA8732692	810	T>A		No	ClinGen ExAC TOPMed gnomAD
CA400850287 rs1241932365	812	G>E		No	ClinGen TOPMed gnomAD
rs143024964 CA8732691	816	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8732690 rs199529767	818	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1217390765 CA400850194	818	S>R		No	ClinGen TOPMed gnomAD
rs1483286230 CA400850189	819	L>V		No	ClinGen TOPMed
rs746788781 CA400850146	821	E>D		No	ClinGen ExAC TOPMed gnomAD
rs986444910 CA293340522	821	E>K		No	ClinGen TOPMed
rs1294052689 CA400850136	822	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA293340519 rs955223831	823	E>A		No	ClinGen TOPMed
rs955223831 CA400850122	823	E>G		No	ClinGen TOPMed
rs1567949402 CA400850112	824	Q>K		No	ClinGen Ensembl
rs779867450 CA8732688	825	V>I		No	ClinGen ExAC gnomAD
rs1277118558 CA400850038	829	F>C		No	ClinGen TOPMed gnomAD
rs267605018 CA293340483	830	H>Y		No	ClinGen Ensembl
rs1420588039 CA400850025	831	E>A		No	ClinGen gnomAD
CA400850028 COSM3403155 rs1330177914	831	E>K	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	833	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	835	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8732682 rs752923262	838	G>S		No	ClinGen ExAC gnomAD
COSM301605 CA8732679 rs61740908	839	V>M	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs547831027 CA400849885	840	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8732678 rs547831027	840	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs145397665 CA293340399	841	L>F		No	ClinGen ESP
CA400849849 rs1226392334	842	W>*		No	ClinGen TOPMed
rs1255060692 CA400849859	842	W>G		No	ClinGen gnomAD
TCGA novel	843	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400849807 rs1207339527	845	Q>L		No	ClinGen gnomAD
CA8732674 rs761255508	846	V>F		No	ClinGen ExAC gnomAD
rs761255508 CA8732675	846	V>I		No	ClinGen ExAC gnomAD
TCGA novel	849	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1217991900 CA400849782	849	I>T		No	ClinGen gnomAD
rs776257221 CA8732672	851	K>E		No	ClinGen ExAC gnomAD
CA293340381 rs764738392	853	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs768271528 CA8732671	853	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746727300 CA8732670	855	L>P		No	ClinGen ExAC gnomAD
TCGA novel	857	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1467605143 CA400849712	860	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8732669 rs779807963	861	R>K		No	ClinGen ExAC gnomAD
CA8732668 rs376418483	862	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs745749746 CA8732667	863	S>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1459621909 CA400849687	863	S>R		No	ClinGen TOPMed
CA400849685 rs1182479732	864	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs201594953 CA8732666	864	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367773788 CA8732665	865	W>R		No	ClinGen ESP ExAC gnomAD
rs1423598525 CA400849667	867	I>L		No	ClinGen TOPMed gnomAD
CA8732664 rs752696068	867	I>T		No	ClinGen ExAC gnomAD
CA400848972 rs1425256530	870	L>F		No	ClinGen TOPMed gnomAD
CA400848944 rs1243204955	872	G>C		No	ClinGen gnomAD
rs1177410511 CA400848939	872	G>V		No	ClinGen gnomAD
rs1456074280 CA400848936	873	I>F		No	ClinGen gnomAD
CA400848930 rs1239879133	873	I>T		No	ClinGen gnomAD
CA400848918 rs1196358658	874	S>C		No	ClinGen gnomAD
CA400848913 rs1355339544	874	S>I		No	ClinGen gnomAD
rs1051069606 CA293339145	876	I>T		No	ClinGen TOPMed
CA8732648 rs771811038	877	P>R		No	ClinGen ExAC gnomAD
CA400848875 rs1334074101	877	P>S		No	ClinGen TOPMed
CA8732646 rs759878451	878	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA8732645 rs112956221	881	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	883	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150463540 CA8732644	883	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	884	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs183154572 CA8732643	884	F>S		No	ClinGen 1000Genomes ExAC
rs755114352 CA400848763	885	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs755114352 CA8732642	885	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1226918966 CA400848745	886	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8732640 rs201467703	886	E>D		No	ClinGen ExAC TOPMed gnomAD
COSM983512 CA293339128 rs947227528	886	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1157711265 CA400848728	887	S>*		No	ClinGen gnomAD
CA8732639 TCGA novel rs758698557	888	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
CA400848696 rs1263658516	889	Q>H		No	ClinGen TOPMed
rs1445046249 CA400848661	891	S>T		No	ClinGen TOPMed
rs200396915 CA8732638	893	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400848616 rs200396915	893	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201417394 CA8732636	894	W>G		No	ClinGen 1000Genomes ExAC gnomAD
rs763524177 CA8732634	895	E>*		No	ClinGen ExAC TOPMed
CA8732635 rs763524177	895	E>K		No	ClinGen ExAC TOPMed
CA400848563 rs1265195926	897	S>T		No	ClinGen gnomAD
rs760206303 CA8732633	904	S>L		No	ClinGen ExAC gnomAD
CA400848331 rs1238311581	906	G>R		No	ClinGen gnomAD
CA400848265 rs1454055906	908	Q>P		No	ClinGen TOPMed
CA8732630 rs759272881	911	D>H		No	ClinGen ExAC TOPMed gnomAD
rs770773542 CA8732628	913	L>P		No	ClinGen ExAC TOPMed gnomAD
rs774011849 CA8732629	913	L>V		No	ClinGen ExAC gnomAD
CA8732627 rs749171535	914	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8732625 rs768809294	915	H>R		No	ClinGen ExAC gnomAD
rs368605320 CA8732622	920	N>S		No	ClinGen ESP ExAC gnomAD
CA8732621 rs746164575	921	K>N		No	ClinGen ExAC gnomAD
rs779084656 CA8732620	922	T>I		No	ClinGen ExAC gnomAD
CA400847902 CA8732618 rs146820712	923	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA293338476 rs777717744	924	S>*		No	ClinGen Ensembl
CA8732597 rs771149183	926	I>T		No	ClinGen ExAC gnomAD
CA8732598 rs370836171	926	I>V		No	ClinGen ESP ExAC gnomAD
CA8732596 rs138049166	927	D>N		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	928	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143651746 CA8732594	929	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8732592 rs374862326	931	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA293338432 rs961978731	933	L>P		No	ClinGen Ensembl
rs751125095 CA8732590	935	R>*		No	ClinGen ExAC TOPMed gnomAD
rs751125095 CA400846779	935	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM3421839 CA8732589 rs766035326	935	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA400846716 rs1411402331	938	I>M		No	ClinGen gnomAD
CA400846721 rs1365920456	938	I>T		No	ClinGen TOPMed gnomAD
rs762737444 CA8732587	940	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	941	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs547542664 CA8732584	944	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs547542664 CA8732583	944	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs765186107 CA8732585	944	A>T		No	ClinGen ExAC gnomAD
rs374587824 CA8732581	949	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs774340921 CA8732579	953	D>A		No	ClinGen ExAC TOPMed gnomAD
CA400846241 rs1227376390	954	P>L		No	ClinGen TOPMed gnomAD
rs1316724538 CA627199707	956	Y>*		No	ClinGen gnomAD
TCGA novel	959	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400845779 rs1388513912	967	K>E		No	ClinGen TOPMed
CA400845303 rs1161311045	968	D>G		No	ClinGen gnomAD
CA8732556 rs141222649	968	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA400845121 rs1402042205 COSM561763	973	I>K	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1419755994 CA400845113	973	I>M		No	ClinGen gnomAD
rs1428325632 CA400845016	977	T>I		No	ClinGen gnomAD
rs769198846 CA8732552	979	R>G		No	ClinGen ExAC TOPMed gnomAD
rs747525085 CA8732550	979	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769198846 CA8732551	979	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1219338725 CA400844818	984	P>A		No	ClinGen TOPMed
rs1258586587 CA400844805	984	P>L		No	ClinGen gnomAD
rs376630597 CA8732548	985	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA400844796 rs376630597	985	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371563947 CA8732547	986	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs900394092 CA293337440	988	D>Y		No	ClinGen Ensembl
CA400844688 rs1347154099	990	I>V		No	ClinGen gnomAD
rs1283757513 CA400844652	992	N>D		No	ClinGen gnomAD
rs1249611352 CA400844647	992	N>I		No	ClinGen TOPMed
rs1249611352 CA400844645	992	N>S		No	ClinGen TOPMed
CA8732544 rs778733928	994	L>P		No	ClinGen ExAC gnomAD
rs73370041 CA8732543	995	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	995	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1235689284 CA400844595	995	L>P		No	ClinGen TOPMed
rs753639797 CA8732542	996	G>R		No	ClinGen ExAC
TCGA novel	997	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8732540 rs763864164	997	I>V		No	ClinGen ExAC gnomAD
CA8732539 rs752973237	1000	S>*		No	ClinGen ExAC TOPMed
rs200963494 CA8732538	1000	S>L		No	ClinGen 1000Genomes ExAC TOPMed
CA8732536 rs766379858	1003	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA8732535 rs763043006	1004	I>F		No	ClinGen ExAC gnomAD
CA8732534 rs773328134	1004	I>M		No	ClinGen ExAC gnomAD
CA400844489 rs763043006	1004	I>V		No	ClinGen ExAC gnomAD
CA8732533 rs779797453	1005	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs762005827 CA8732531	1007	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1332540021 CA400844462	1008	R>K		No	ClinGen TOPMed
TCGA novel	1012	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1013	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1013	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8732508 rs776049752	1014	E>K		No	ClinGen ExAC gnomAD
rs1331225811 CA400842735	1015	H>D		No	ClinGen gnomAD
TCGA novel	1016	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400842648 rs1390234719	1017	D>N		No	ClinGen gnomAD
CA400842619 rs1399062983	1017	D>V		No	ClinGen gnomAD
CA400842564 rs1299041328	1019	E>K		No	ClinGen gnomAD
CA400842560 rs1299041328	1019	E>Q		No	ClinGen gnomAD
rs1367492491 CA400842514	1020	Y>C		No	ClinGen gnomAD
CA8732507 rs772679477	1020	Y>H		No	ClinGen ExAC gnomAD
CA8732506 rs760190592	1022	Y>*		No	ClinGen ExAC gnomAD
rs773986908 CA8732505	1023	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs773986908 CA400842446	1023	R>G		No	ClinGen ExAC gnomAD
rs770362206 CA8732504	1023	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769535715 CA8732502	1025	N>K		No	ClinGen ExAC gnomAD
rs1252580777 CA400842399	1026	T>A		No	ClinGen TOPMed gnomAD
CA8732500 rs747906248	1026	T>I		No	ClinGen ExAC gnomAD
rs747906248 CA400842396	1026	T>N		No	ClinGen ExAC gnomAD
CA400842398 rs1252580777	1026	T>P		No	ClinGen TOPMed gnomAD
CA400842393 rs1598369361	1027	F>I		No	ClinGen Ensembl
CA400842385 rs1598369353	1027	F>S		No	ClinGen Ensembl
CA8732498 rs202236680	1029	W>*		No	ClinGen ESP TOPMed gnomAD
CA400842352 rs1489610248	1029	W>*		No	ClinGen TOPMed
rs781030799 CA8732497	1031	P>A		No	ClinGen ExAC gnomAD
CA8732495 rs751508531	1031	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8732496 rs751508531	1031	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs754039200 CA8732492	1032	M>I		No	ClinGen ExAC gnomAD
rs201751088 CA293333723	1032	M>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA293333708 rs370923886	1033	A>G		No	ClinGen ESP TOPMed
CA400842312 rs1178769877	1033	A>T		No	ClinGen gnomAD
rs764204280 CA8732491	1035	S>F		No	ClinGen ExAC gnomAD
rs977029163 CA293333679	1037	T>A		No	ClinGen Ensembl
rs761021123 CA8732490	1038	P>S		No	ClinGen ExAC gnomAD
CA400842269 rs1567940551	1039	Y>D		No	ClinGen Ensembl
rs1308882379 CA400842258	1040	I>T		No	ClinGen TOPMed
CA8732489 rs753110125	1040	I>V		No	ClinGen ExAC TOPMed gnomAD
rs148699982 CA8732488	1042	M>T		No	ClinGen ESP ExAC gnomAD
CA400842216 rs1010542494	1043	S>R		No	ClinGen gnomAD
CA8732487 rs760063950	1043	S>R		No	ClinGen ExAC gnomAD
rs775004441 CA8732486	1044	S>G		No	ClinGen ExAC gnomAD
CA8732483 rs144122311	1045	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8732482 rs144122311	1045	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA8732484 rs762347162	1045	I>V		No	ClinGen ExAC gnomAD
rs1432350434 CA400842151	1048	Y>D		No	ClinGen gnomAD
CA400842128 rs1372584497	1049	K>R		No	ClinGen TOPMed
CA8732451 rs149937660	1050	K>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781589150 CA8732449	1051	K>N		No	ClinGen ExAC gnomAD
rs748341190 CA8732450	1051	K>T		No	ClinGen ExAC gnomAD
rs139631182 CA293330844	1052	A>T		No	ClinGen ESP TOPMed
CA400840288 rs1326344749	1052	A>V		No	ClinGen gnomAD
rs1381742229 CA400840276	1053	H>R		No	ClinGen TOPMed
rs755290375 CA8732447	1053	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA400840236 rs1403762863	1054	S>F		No	ClinGen gnomAD
CA8732444 rs200739209	1057	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8732445 rs766823070	1057	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1166364121 CA400840130	1059	S>*		No	ClinGen gnomAD
rs764684566 CA8732442	1060	G>V		No	ClinGen ExAC gnomAD
TCGA novel	1062	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs912511379 CA293330799	1063	P>S		No	ClinGen TOPMed gnomAD
CA400840048 rs1324401328	1064	S>C		No	ClinGen TOPMed
rs763709374 CA8732439	1065	A>T		No	ClinGen ExAC gnomAD
CA8732437 rs775137039	1067	W>*		No	ClinGen ExAC gnomAD
TCGA novel	1067	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1070	Q>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs577745042 CA400839887	1071	A>E		No	ClinGen 1000Genomes ExAC gnomAD
rs577745042 CA8732436	1071	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs774378739 CA8732434	1074	D>A		No	ClinGen ExAC gnomAD
rs774378739 CA400839829	1074	D>G		No	ClinGen ExAC gnomAD
CA293330771 rs1030808023	1075	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	1075	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs544220852 CA8732433	1078	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1080	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781487357 CA8732431	1080	L>F		No	ClinGen ExAC gnomAD
rs138716502 CA8732430	1081	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8732429 rs747266950	1081	I>T		No	ClinGen ExAC gnomAD
TCGA novel	1085	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs967798034 CA293330682	1088	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1163228381 CA400839476	1089	D>N		No	ClinGen gnomAD
CA8732426 rs758819187	1090	Y>H		No	ClinGen ExAC gnomAD
CA8732424 rs779366486	1092	F>C		No	ClinGen ExAC gnomAD
rs1023321757 CA293330643	1093	S>N		No	ClinGen TOPMed
CA293330637 rs915607161	1093	S>R		No	ClinGen TOPMed gnomAD
rs960394974 CA293330620	1094	P>L		No	ClinGen TOPMed
CA400839309 rs1207012934	1097	I>F		No	ClinGen TOPMed gnomAD
CA8732420 rs760189433	1098	I>K		No	ClinGen ExAC TOPMed gnomAD
CA400839291 rs199538798	1098	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA293330577 rs1036226495	1098	I>M		No	ClinGen Ensembl
CA8732421 rs760189433	1098	I>T		No	ClinGen ExAC TOPMed gnomAD
rs199538798 CA8732422	1098	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752400087 CA8732419	1100	I>L		No	ClinGen ExAC gnomAD
rs1466253094 CA400839190	1103	N>H		No	ClinGen TOPMed
CA8732417 rs565411916	1104	L>M		No	ClinGen ExAC TOPMed gnomAD
CA293330557 rs565411916	1104	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1205439728 CA400839149	1106	I>L		No	ClinGen gnomAD
rs369616854 CA293330548	1106	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs866313581 CA293330543	1107	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA400839054 rs1280072783	1108	I>F		No	ClinGen TOPMed
rs1488813068 CA400839049	1108	I>S		No	ClinGen TOPMed
rs1430074888 CA400839020	1111	S>G		No	ClinGen TOPMed gnomAD
CA293330432 rs376048173	1113	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8732402 rs376048173	1113	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1336758756 CA400838937	1114	Y>S		No	ClinGen TOPMed gnomAD
CA293330429 rs562619905	1118	L>V		No	ClinGen Ensembl
CA400838812 rs1429217334	1119	V>D		No	ClinGen gnomAD
CA8732397 rs371805756	1120	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1174652328 CA400838799	1120	F>V		No	ClinGen gnomAD
CA8732399 rs141616550	1120	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA293330385 rs112499807	1123	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778606363 CA8732394	1123	Y>*		No	ClinGen ExAC
rs1598362399 CA400838673	1124	V>G		No	ClinGen Ensembl
TCGA novel	1126	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293330383 rs960021923	1127	F>L		No	ClinGen TOPMed gnomAD
CA8732392 rs764028074	1129	F>S		No	ClinGen ExAC gnomAD
rs369429258 CA8732391	1130	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8732390 COSM561764 rs775468594	1130	R>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA400838570 rs1598362371	1131	N>H		No	ClinGen Ensembl
CA8732389 rs568011499	1131	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400838552 rs1372459946	1132	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	1135	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs982891398 CA293330366	1135	N>S		No	ClinGen gnomAD
rs982891398 CA400838492	1135	N>T		No	ClinGen gnomAD
CA8732388 rs375215083	1136	S>R		No	ClinGen ESP ExAC gnomAD
CA8732387 rs143799711	1138	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1231643716 CA400838437	1138	I>T		No	ClinGen TOPMed
CA400838430 rs1431581376	1139	W>*		No	ClinGen gnomAD
CA8732386 rs771291890	1141	F>L		No	ClinGen ExAC gnomAD
CA8732385 rs749758994	1142	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1143	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778276610 CA8732384	1145	I>N		No	ClinGen ExAC gnomAD
rs372092744 CA293330328	1145	I>V		No	ClinGen ESP
rs1446310482 CA400834053	1147	V>A		No	ClinGen gnomAD
rs923998647 CA293320534	1150	S>L		No	ClinGen TOPMed
TCGA novel	1150	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400833922 rs1194976373	1152	V>D		No	ClinGen gnomAD
TCGA novel	1152	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1153	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754565719 CA8732362	1154	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8732361 rs746610016	1155	D>E		No	ClinGen ExAC gnomAD
rs779826953 CA8732360	1157	N>S		No	ClinGen ExAC gnomAD
rs1358798925 CA400833759	1158	E>V		No	ClinGen gnomAD
rs533072475 CA8732359	1159	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1159	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293320504 COSM3701266 rs778628468	1160	G>E	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1341550047 CA400833728	1160	G>R		No	ClinGen gnomAD
CA8732357 rs778628468	1160	G>V		No	ClinGen ExAC gnomAD
rs1390006182 CA400833697	1161	F>Y		No	ClinGen TOPMed gnomAD
rs757163962 CA8732356	1162	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753725710 CA8732355	1163	G>R		No	ClinGen ExAC gnomAD
CA400833629 rs1430075670	1165	F>L		No	ClinGen gnomAD
rs1177267466	1166	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1177267466	1167	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs185950252 CA8732352	1170	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8732351 rs766558504	1172	P>A		No	ClinGen ExAC gnomAD
CA400833408 rs766558504	1172	P>T		No	ClinGen ExAC gnomAD
rs1181061476 COSM1721415 CA400833378	1173	P>S	NS [Cosmic]	No	ClinGen cosmic curated gnomAD
CA293320446 rs1052912087	1174	F>L		No	ClinGen TOPMed
rs374588827 CA293320442	1176	L>F		No	ClinGen ESP TOPMed
CA8732350 rs367829476	1176	L>M		No	ClinGen ESP ExAC gnomAD
CA293320441 rs571090539	1177	I>M		No	ClinGen Ensembl
rs770057429 CA8732348	1177	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8732347 rs762341894	1178	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762341894 CA400833211	1178	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1490228080 CA400833164	1180	L>P		No	ClinGen gnomAD
CA400833096 rs1567924319	1182	I>S		No	ClinGen Ensembl
rs933285653 CA293319184	1186	I>V		No	ClinGen TOPMed gnomAD
rs777090048 CA8732327	1187	S>F		No	ClinGen ExAC gnomAD
rs1316930968 CA400832211	1188	P>S		No	ClinGen gnomAD
rs1380056049 CA400832103	1194	L>*		No	ClinGen gnomAD
CA400832084 rs1598342488	1195	G>E		No	ClinGen Ensembl
rs200932925 CA8732326	1196	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8732325 rs772571287 COSM1385505	1198	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1199	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400831939 rs1371910489	1200	E>A		No	ClinGen TOPMed
CA400831908 rs1305294567	1201	I>T		No	ClinGen TOPMed
CA8732323 rs138920081	1201	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA293319177 rs989303548 COSM983506	1202	V>A	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	1202	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778456921 CA8732321	1203	Y>*		No	ClinGen ExAC gnomAD
CA8732322 rs745496262	1203	Y>H		No	ClinGen ExAC gnomAD
rs770669445 CA8732320	1208	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8732303 rs764563080	1209	P>A		No	ClinGen ExAC TOPMed gnomAD
rs764563080 CA400831669	1209	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8732302 rs115322542	1212	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1215	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8732299 COSM1303258 rs377378801	1221	R>*	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs777330341 CA293318759	1221	R>Q		No	ClinGen TOPMed gnomAD
CA400831492 rs1437662580	1222	C>R		No	ClinGen gnomAD
rs1271811875 CA400831484	1222	C>Y		No	ClinGen gnomAD
CA8732297 rs773952923	1225	M>I		No	ClinGen ExAC gnomAD
CA293318755 rs569522639	1228	R>K		No	ClinGen gnomAD
CA400831364 rs1343664064	1228	R>W		No	ClinGen gnomAD
CA400831292 rs1244610090	1230	K>N		No	ClinGen gnomAD
rs1380440349 CA400831285	1231	L>I		No	ClinGen gnomAD
rs1285909482 CA400831273	1231	L>P		No	ClinGen gnomAD
rs967456169 CA293318742	1232	M>T		No	ClinGen TOPMed
rs770485052 CA8732296	1232	M>V		No	ClinGen ExAC gnomAD
CA400831069 rs1307847399	1236	P>L		No	ClinGen TOPMed
CA400830983 rs1371420936	1239	R>T		No	ClinGen gnomAD
CA293317961 rs1040065237	1242	P>A		No	ClinGen TOPMed
rs1351754293 CA400829629	1242	P>Q		No	ClinGen gnomAD
rs765928790 CA8732276	1243	R>S		No	ClinGen ExAC gnomAD
CA8732277 rs368464085	1243	R>T		No	ClinGen ESP ExAC gnomAD
COSM194118 rs772870876 CA8732274	1246	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8732272 rs747906177	1247	I>T		No	ClinGen ExAC gnomAD
CA8732273 rs769484439	1247	I>V		No	ClinGen ExAC TOPMed gnomAD
CA293317935 rs1039138348	1253	E>K		No	ClinGen gnomAD
rs1221684385 CA400829125	1254	P>R		No	ClinGen gnomAD
TCGA novel	1254	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1446291098 COSM3820370 CA400829059	1256	G>R	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1266184514 CA400828923	1260	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8732268 rs778788234	1262	Q>*		No	ClinGen ExAC gnomAD
CA400828849 rs1196777011	1262	Q>R		No	ClinGen TOPMed gnomAD
CA8732267 rs771077909	1263	M>T		No	ClinGen ExAC gnomAD
rs749474709 CA8732266	1265	R>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1567919933 CA400828707	1266	M>I		No	ClinGen Ensembl
TCGA novel	1268	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8732265 rs778122752	1268	T>I		No	ClinGen ExAC gnomAD
rs1294119335 CA400828610	1269	V>A		No	ClinGen gnomAD
CA400828498 rs1323197682	1272	M>I		No	ClinGen gnomAD
CA8732264 rs756448811	1272	M>T		No	ClinGen ExAC gnomAD
rs1430143715 CA400828542	1272	M>V		No	ClinGen gnomAD
rs753108102 CA8732263	1273	A>P		No	ClinGen ExAC gnomAD
rs753108102 CA400828486	1273	A>S		No	ClinGen ExAC gnomAD
CA400828421 rs74994346	1274	V>A		No	ClinGen gnomAD
rs74994346 CA293317896	1274	V>G		No	ClinGen gnomAD
rs781663929 CA8732262	1274	V>M		No	ClinGen ExAC gnomAD
COSM194117 rs943114501 CA293317873	1275	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA8732260 rs765755245	1275	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8732259 rs765755245	1275	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA293317868 rs375424989	1276	D>G		No	ClinGen ESP TOPMed gnomAD
CA293317854 rs576565979	1279	E>D		No	ClinGen gnomAD
rs143021308 CA8732236	1280	T>I		No	ClinGen 1000Genomes ExAC
TCGA novel	1281	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs538767105 COSM3664802 CA400828011	1282	V>I	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs538767105 CA8732234	1282	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs988639249 CA293317299	1283	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8732233 rs753555996	1283	I>V		No	ClinGen ExAC TOPMed gnomAD
CA400827958 rs1229245689	1284	I>T		No	ClinGen TOPMed gnomAD
CA8732232 rs201203339	1285	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400827863 rs1398138792	1287	C>S		No	ClinGen gnomAD
rs1303063798 CA400827813	1289	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8732230 COSM1385503 rs370277695	1289	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1408771449 CA400827772	1290	K>N		No	ClinGen gnomAD
TCGA novel	1293	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1368329524 CA400827670	1294	G>D		No	ClinGen gnomAD
TCGA novel	1298	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8732228 rs141319091	1298	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773369326 CA8732226	1299	C>R		No	ClinGen ExAC gnomAD
rs149991432 CA8732224	1299	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8732225 rs149991432	1299	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1256678070 CA400827482	1300	F>L		No	ClinGen gnomAD
CA293317247 rs79507532	1301	S>Y		No	ClinGen Ensembl
CA8732223 rs776889492	1303	R>K		No	ClinGen ExAC TOPMed gnomAD
CA400827412 rs1482162228	1304	K>E		No	ClinGen gnomAD
rs1567919014 CA400827394	1305	K>*		No	ClinGen Ensembl
rs2302294 VAR_027596 CA8732221	1306	K>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1463020772 CA400827332	1307	I>T		No	ClinGen TOPMed gnomAD
rs747393972 CA8732220	1309	T>A		No	ClinGen ExAC gnomAD
CA8732219 rs145276039	1309	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs527560243 CA293317181	1310	R>G		No	ClinGen 1000Genomes
rs758840666 CA8732218	1310	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1306668184 CA400827248	1311	N>K		No	ClinGen gnomAD
CA8732217 rs746375616	1311	N>S		No	ClinGen ExAC gnomAD
rs1567918926 CA400827238	1312	V>I		No	ClinGen Ensembl
TCGA novel	1313	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8732214 rs756779000	1317	K>T		No	ClinGen ExAC gnomAD
rs1390650749 CA400826075	1319	G>D		No	ClinGen TOPMed gnomAD
CA400827023 rs1567918882	1319	G>R		No	ClinGen Ensembl
rs756170862	1319	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs556771365 CA8732192	1321	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA8732191 rs755734680	1322	I>T		No	ClinGen ExAC gnomAD
rs1469039132 CA400825813 CA400825809	1327	H>Q		No	ClinGen TOPMed gnomAD
rs754843818 CA8732188	1328	N>D		No	ClinGen ExAC gnomAD
CA8732187 rs138149682	1328	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA400825714 rs1269090975	1330	A>S		No	ClinGen gnomAD
CA400825725 rs1269090975	1330	A>T		No	ClinGen gnomAD
rs990480972 CA293316632	1331	G>S		No	ClinGen Ensembl
CA400825623 rs1160775463	1333	S>R		No	ClinGen gnomAD
CA400825557 rs61739757	1335	T>A		No	ClinGen TOPMed
CA293316608 rs147415120	1335	T>I		No	ClinGen ESP TOPMed
CA293316620 rs147415120	1335	T>N		No	ClinGen ESP TOPMed
CA293316628 rs61739757	1335	T>S		No	ClinGen TOPMed
rs766413667 CA8732186	1336	I>V		No	ClinGen ExAC gnomAD
rs762856001 CA8732185	1339	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1343786530 CA400825389	1339	I>V		No	ClinGen TOPMed gnomAD
CA400825349 rs1567918087	1341	G>R		No	ClinGen Ensembl
CA8732184 rs776715365	1342	D>N		No	ClinGen ExAC TOPMed gnomAD
rs776715365 CA400825300	1342	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA8732183 rs764081085	1343	T>A		No	ClinGen ExAC gnomAD
CA400825183 rs1416820934	1345	P>Q		No	ClinGen gnomAD
CA8732181 rs376800311	1346	T>A		No	ClinGen ESP ExAC gnomAD
CA400825149 rs1407965679	1346	T>I		No	ClinGen TOPMed
rs1301828505 CA400825139	1347	A>S		No	ClinGen TOPMed
TCGA novel	1347	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8732178 rs759866501	1348	G>E		No	ClinGen ExAC gnomAD
CA8732163 rs750355412	1351	I>T		No	ClinGen ExAC gnomAD
CA400824239 rs374287358	1354	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1007630163 CA293314888	1354	G>R		No	ClinGen TOPMed
CA8732162 rs374287358	1354	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs760646937 CA8732161	1355	S>N		No	ClinGen ExAC gnomAD
CA8732160 rs767723466	1355	S>R		No	ClinGen ExAC gnomAD
rs9916254 CA293314846	1356	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs9916254 VAR_027597 CA8732158	1356	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8732157 rs774641217	1357	G>*		No	ClinGen ExAC gnomAD
CA8732156 rs371390715	1357	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA293314831 rs201537420	1358	G>E		No	ClinGen TOPMed gnomAD
rs1368971171 CA400824179	1360	P>T		No	ClinGen TOPMed
CA8732154 rs773617386	1361	L>Q		No	ClinGen ExAC gnomAD
rs912447969 CA293314793	1361	L>V		No	ClinGen Ensembl
rs770384982 CA8732153	1362	G>A		No	ClinGen ExAC gnomAD
CA8732151 rs374638994	1364	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA400824099 rs1169290370	1367	C>G		No	ClinGen TOPMed
CA8732149 rs143933738	1368	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1368	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778683579 CA8732146	1372	A>E		No	ClinGen ExAC TOPMed gnomAD
CA8732145 COSM384767 rs778683579	1372	A>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs893567300 CA293314707	1373	L>Q		No	ClinGen TOPMed
CA8732143 rs752762218	1374	W>*		No	ClinGen ExAC gnomAD
rs767598682 CA8732142	1375	P>A		No	ClinGen ExAC gnomAD
rs1404041550 CA400823965	1376	N>S		No	ClinGen TOPMed gnomAD
CA400823967 rs1404041550	1376	N>T		No	ClinGen TOPMed gnomAD
CA293314701 COSM168936 rs137862082	1377	L>P	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA
rs1023407829 CA293314700	1378	T>I		No	ClinGen Ensembl
CA400823940 rs1201084573	1379	V>G		No	ClinGen TOPMed
CA293314695 rs992297960	1379	V>L		No	ClinGen TOPMed gnomAD
CA400823936 rs1472492765	1380	R>K		No	ClinGen gnomAD
CA8732141 rs759688720	1384	E>D		No	ClinGen ExAC gnomAD
rs1383943664 CA400823900	1385	V>A		No	ClinGen TOPMed gnomAD
rs1383943664 CA400823899	1385	V>G		No	ClinGen TOPMed gnomAD
rs150905357 CA8732140	1386	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA8732138 rs763208154 COSM437232	1387	A>T	lung Variant assessed as Somatic; 0.0 impact. breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8732135 rs762421040	1389	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8732134 rs547305869	1390	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs571071438 CA8732132	1391	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA8732133 rs191524893	1391	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8732131 rs774981819	1392	L>V		No	ClinGen ExAC gnomAD
CA400823852 rs1230532766	1394	K>*		No	ClinGen gnomAD
rs552343216 CA400823812	1396	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM983502 rs142295838 CA8732129	1397	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs757130162 CA8732127	1399	I>V		No	ClinGen ExAC gnomAD
CA400823748 rs1386994010	1400	A>P		No	ClinGen gnomAD
rs1386994010 CA400823746	1400	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs781213290 CA8732125	1402	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8732123 rs766481353	1403	R>P		No	ClinGen ExAC gnomAD
rs766481353 CA8732122 COSM3958690	1403	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8732124 rs764094824	1403	R>W		No	ClinGen ExAC TOPMed gnomAD
rs968853350 CA293313973	1405	V>A		No	ClinGen TOPMed
CA400822917 rs968853350	1405	V>G		No	ClinGen TOPMed
rs757672749 CA8732101	1406	D>G		No	ClinGen ExAC gnomAD
CA8732099 rs764691635	1407	A>E		No	ClinGen ExAC TOPMed gnomAD
CA8732100 rs764691635	1407	A>V		No	ClinGen ExAC TOPMed gnomAD
rs767059980 CA8732096	1409	K>Q		No	ClinGen ExAC gnomAD
rs1386352844 CA400822746	1410	L>Q		No	ClinGen TOPMed
rs759070757 CA8732095	1411	Q>E		No	ClinGen ExAC gnomAD
CA8732094 rs774078887	1413	Q>*		No	ClinGen ExAC gnomAD
rs61732707 CA8732093	1415	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1428893453 CA400822501	1416	A>S		No	ClinGen TOPMed gnomAD
CA400822485 rs762707600	1417	P>A		No	ClinGen ExAC TOPMed gnomAD
CA8732092 rs762707600	1417	P>T		No	ClinGen ExAC TOPMed gnomAD
CA8732089 rs748118668	1418	V>G		No	ClinGen ExAC gnomAD
rs28590334 CA8732090	1418	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1419	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779954514 CA8732088	1420	T>P		No	ClinGen ExAC
CA400822281 rs1321644730	1423	E>*		No	ClinGen gnomAD
rs1310951263 CA400822231	1424	G>*		No	ClinGen gnomAD
rs1598331300 CA400822210	1425	I>V		No	ClinGen Ensembl
CA8732086 rs374600027	1427	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs779245030 CA8732085	1427	R>Q		No	ClinGen ExAC gnomAD
CA400821902 rs1481872525	1430	C>F		No	ClinGen TOPMed
CA400821860 rs1455786497	1432	V>M		No	ClinGen gnomAD
rs778243414 CA8732062	1433	L>P		No	ClinGen ExAC gnomAD
CA400821731 rs1432726548	1437	G>V		No	ClinGen gnomAD
CA400821680 rs1193496273	1439	P>L		No	ClinGen gnomAD
rs1265872944 CA400821686	1439	P>S		No	ClinGen TOPMed gnomAD
rs1207250175 CA400821642	1441	V>L		No	ClinGen gnomAD
rs1179002953 CA400821594	1443	L>P		No	ClinGen gnomAD
rs781705697 CA8732058	1444	L>P		No	ClinGen ExAC
CA400821555 rs1239110585	1445	D>A		No	ClinGen gnomAD
CA8732057 rs755506671	1446	E>Q		No	ClinGen ExAC gnomAD
CA293313837 rs1007640417	1447	P>L		No	ClinGen gnomAD
rs1567913624 CA400821515	1447	P>S		No	ClinGen Ensembl
rs142934607 CA8732053	1448	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA400821481 rs142934607	1448	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs761637364 CA8732050	1450	G>R		No	ClinGen ExAC TOPMed gnomAD
rs761637364 COSM983499 CA400821448	1450	G>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8732048 rs148927389	1453	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774507778 CA8732046	1454	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749472643 CA8732045	1455	G>R		No	ClinGen ExAC gnomAD
CA8732044 rs749472643	1455	G>W		No	ClinGen ExAC gnomAD
rs781470283 CA8732040	1456	Q>R		No	ClinGen ExAC gnomAD
CA8732039 rs117967396	1458	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145682636 CA8732037	1460	W>*		No	ClinGen ESP ExAC gnomAD
rs1567912943 CA400821123	1461	Q>*		No	ClinGen Ensembl
CA8732016 rs745369146	1462	V>E		No	ClinGen ExAC TOPMed gnomAD
rs543291325 CA8732017	1462	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA8732014 rs572581251	1464	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374873743 CA8732015 COSM983498	1464	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1466	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755652843 CA293313342	1468	R>K		No	ClinGen Ensembl
CA8732012 rs146348192	1470	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs146348192 CA8732011	1470	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1412073292 CA400820897	1472	R>S		No	ClinGen TOPMed gnomAD
TCGA novel	1473	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767562262 CA8732008	1473	G>C		No	ClinGen ExAC TOPMed gnomAD
rs767562262 CA293313310	1473	G>S		No	ClinGen ExAC TOPMed gnomAD
CA8732005 rs765240314	1474	A>D		No	ClinGen ExAC TOPMed gnomAD
CA8732006 rs750463155	1474	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1461999340 CA400820826	1476	L>P		No	ClinGen TOPMed
rs762043923 CA8732004	1477	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1598329868 CA400820815	1477	T>P		No	ClinGen Ensembl
CA8732002 rs768901915	1478	T>I		No	ClinGen ExAC TOPMed gnomAD
CA400820779 rs1369576288	1478	T>S		No	ClinGen TOPMed
CA400820708 rs761019643	1481	M>L		No	ClinGen ExAC TOPMed gnomAD
CA8732001 rs761019643	1481	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1482	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293313279 rs111552891	1483	E>K		No	ClinGen Ensembl
CA400820622 rs1439450694	1484	A>P		No	ClinGen TOPMed gnomAD
CA8732000 rs375389452	1486	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1598329797 CA400820525	1487	V>G		No	ClinGen Ensembl
CA8731998 rs372324484	1487	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1295343011 CA400820512	1488	C>S		No	ClinGen gnomAD
rs1295343011 CA400820514	1488	C>Y		No	ClinGen gnomAD
rs1234058143 COSM983497 CA400820467	1490	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs770372382 CA400820460	1490	R>L		No	ClinGen ExAC TOPMed gnomAD
rs770372382 CA8731996	1490	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8731995 rs147843806	1491	V>G		No	ClinGen ESP ExAC
rs1439074609 COSM194115 CA400820390	1494	M>I	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1487758384 CA400820395	1494	M>K		No	ClinGen TOPMed
CA400820402 rs1487758384	1494	M>T		No	ClinGen TOPMed
TCGA novel	1495	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1251957906 CA400820330	1497	G>E		No	ClinGen TOPMed
rs1336835597 CA400820313	1498	R>K		No	ClinGen gnomAD
TCGA novel	1499	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598329711 CA400820259	1500	R>G		No	ClinGen Ensembl
CA400820083 rs1434879967	1501	C>G		No	ClinGen gnomAD
CA293313154 rs139550875	1501	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA400820065 rs1387427033	1502	I>L		No	ClinGen gnomAD
rs760041009 CA8731980	1505	I>L		No	ClinGen ExAC gnomAD
rs1407990395 CA400819924	1507	H>R		No	ClinGen gnomAD
CA400819929 rs1401931896	1507	H>Y		No	ClinGen gnomAD
CA400819717 rs1313135897	1512	F>S		No	ClinGen TOPMed
CA400819669 rs1254844636	1513	G>A		No	ClinGen gnomAD
TCGA novel	1515	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1517	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293313146 rs201197171	1518	L>M		No	ClinGen 1000Genomes
rs371979235 CA293313138	1518	L>P		No	ClinGen ESP TOPMed
CA400819462 rs1483066539 COSM3727898	1519	E>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
COSM3796004 CA8731975 rs367930267	1520	M>I	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA293313125 CA400819229 rs888479061	1524	N>K		No	ClinGen TOPMed gnomAD
CA400819213 rs1277948895	1525	L>P		No	ClinGen gnomAD
CA8731974 rs769518296	1526	A>T		No	ClinGen ExAC gnomAD
rs375455257 CA8731972	1528	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA400819120 rs1317710381	1528	M>T		No	ClinGen TOPMed gnomAD
CA8731973 rs747809354	1528	M>V		No	ClinGen ExAC gnomAD
rs1228110078 CA400819085	1529	E>Q		No	ClinGen gnomAD
CA8731971 rs370954353	1530	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8731969 rs758415929	1530	P>H		No	ClinGen ExAC TOPMed gnomAD
rs758415929 CA8731968	1530	P>L		No	ClinGen ExAC TOPMed gnomAD
rs758415929 CA8731970	1530	P>R		No	ClinGen ExAC TOPMed gnomAD
CA400819047 rs370954353	1530	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1345441995 CA400819018	1531	L>R		No	ClinGen gnomAD
CA400818990 rs1432368058	1532	H>R		No	ClinGen TOPMed gnomAD
CA8731966 rs764161669	1536	L>R		No	ClinGen ExAC gnomAD
rs1448798815 CA400818885	1537	R>G		No	ClinGen TOPMed gnomAD
CA293313059 rs944532187	1539	F>I		No	ClinGen TOPMed gnomAD
CA400818748 rs1221252998	1539	F>L		No	ClinGen TOPMed
CA8731964 rs150959606	1539	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA293313045 rs537889906	1541	Q>E		No	ClinGen Ensembl
CA293313017 COSM561769 rs188409024 CA400818667	1541	Q>H	Variant assessed as Somatic; impact. lung [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA
rs142538535 CA293313039	1541	Q>L		No	ClinGen ESP TOPMed gnomAD
CA400818677 rs142538535	1541	Q>P		No	ClinGen ESP TOPMed gnomAD
CA8731962 rs767776523	1542	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1281663659 CA400818526	1545	Q>*		No	ClinGen gnomAD
CA8731960 rs766785822	1547	R>K		No	ClinGen ExAC gnomAD
CA8731959 rs766785822	1547	R>M		No	ClinGen ExAC gnomAD
CA8731942 rs557030957	1547	R>S		No	ClinGen ExAC gnomAD
rs763333258 CA8731941	1548	F>L		No	ClinGen ExAC gnomAD
COSM1283173 CA8731939 rs765882044	1551	L>M	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8731938 rs761399742	1553	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1299878368 CA400817024	1554	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA293312307 rs931544567	1558	V>A		No	ClinGen TOPMed
rs1433629984 CA400816987	1559	E>Q		No	ClinGen TOPMed
CA400816942 rs1468792308	1560	D>E		No	ClinGen TOPMed
CA8731935 rs560943194	1561	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8731934 rs375962547	1562	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA8731933 rs372952180	1562	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1565	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293312280 rs898704015	1565	S>L		No	ClinGen TOPMed
TCGA novel	1566	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778791722 CA8731931	1567	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1281580067 CA400816799	1568	F>L		No	ClinGen TOPMed
CA400816712 rs1259145744	1571	L>S		No	ClinGen gnomAD
CA293312276 rs572123311	1572	E>K		No	ClinGen Ensembl
CA8731930 rs770923857	1572	E>V		No	ClinGen ExAC gnomAD
rs1178353786 CA400816674	1573	I>L		No	ClinGen gnomAD
TCGA novel	1574	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1575	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8731897 rs757797303	1576	Q>R		No	ClinGen ExAC gnomAD
rs754389074 CA8731896	1577	S>N		No	ClinGen ExAC gnomAD
rs1476237202 CA400814512	1578	F>S		No	ClinGen gnomAD
COSM194113 CA400814498 rs1455091157	1579	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1191512100 CA400814414	1581	E>K		No	ClinGen gnomAD
rs1307900960 CA400814368	1582	E>G		No	ClinGen TOPMed
rs1426322742 CA400814386	1582	E>K		No	ClinGen TOPMed gnomAD
CA8731891 rs370117036	1585	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8731892 rs370117036	1585	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA400814157 rs1282765334	1589	T>P		No	ClinGen TOPMed
CA400814102 rs1278093148	1591	E>*		No	ClinGen gnomAD
TCGA novel CA400814096 rs1598319041	1591	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
TCGA novel	1595	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400813760 rs1301446774	1596	E>*		No	ClinGen gnomAD
CA400813768 rs1301446774	1596	E>K		No	ClinGen gnomAD
CA400813719 rs1404338444	1597	L>F		No	ClinGen gnomAD
CA400813700 rs1341299463	1597	L>R		No	ClinGen gnomAD
rs749653892 CA8731877	1599	K>R		No	ClinGen ExAC TOPMed gnomAD
CA400813583 rs1353827461	1600	E>*		No	ClinGen TOPMed gnomAD
rs1353827461 CA400813584	1600	E>Q		No	ClinGen TOPMed gnomAD
CA400813567 rs1276422581	1600	E>V		No	ClinGen TOPMed
CA293307348 rs201164310	1601	Q>H		No	ClinGen 1000Genomes
CA8731876 rs778340716	1601	Q>K		No	ClinGen ExAC gnomAD
CA8731875 rs374512087	1602	E>*		No	ClinGen ESP ExAC gnomAD
rs374512087 CA8731874	1602	E>K		No	ClinGen ESP ExAC gnomAD
rs374512087 CA8731873	1602	E>Q		No	ClinGen ESP ExAC gnomAD
rs1249733045 CA400813410	1604	G>R		No	ClinGen TOPMed
rs199809476 CA293307321	1605	D>H		No	ClinGen 1000Genomes
rs199809476 CA293307327	1605	D>N		No	ClinGen 1000Genomes
CA8731871 rs751236707	1606	L>P		No	ClinGen ExAC gnomAD
rs200435633 CA293307311	1608	E>*		No	ClinGen 1000Genomes
CA8731870 rs368678014	1608	E>D		No	ClinGen ESP ExAC gnomAD
CA293307306 rs959051547	1609	D>G		No	ClinGen TOPMed gnomAD
CA400813004 rs1460547740	1612	P>L		No	ClinGen gnomAD
CA8731869 rs762709359	1612	P>S		No	ClinGen ExAC TOPMed gnomAD
CA400813024 rs762709359	1612	P>T		No	ClinGen ExAC TOPMed gnomAD
CA8731868 rs148330421	1613	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400812979 rs1171275054	1614	V>M		No	ClinGen TOPMed
CA400812931 rs1472874327	1615	K>N		No	ClinGen gnomAD
CA400812943 rs1169668374	1615	K>R		No	ClinGen gnomAD
rs1179492348 CA400812912	1616	W>*		No	ClinGen gnomAD
rs186593974 CA8731866	1616	W>*		No	ClinGen 1000Genomes ExAC gnomAD
CA8731865 rs775596885	1617	K>E		No	ClinGen ExAC gnomAD
rs772298831 CA8731864	1617	K>N		No	ClinGen ExAC gnomAD
CA400812870 rs1212874322	1618	L>F		No	ClinGen gnomAD
rs1332912946 CA400812862	1618	L>R		No	ClinGen gnomAD
CA8731863 rs745991779	1619	L>F		No	ClinGen ExAC gnomAD
rs1233957759 CA400812822	1620	L>Q		No	ClinGen gnomAD
rs950435657 CA293307258	1621	Q>*		No	ClinGen Ensembl
rs1350126936 CA400812796	1621	Q>H		No	ClinGen gnomAD
CA400812761 rs1458287528	1623	E>K		No	ClinGen TOPMed
rs1444920116	1625	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q8IUA7

1 regional properties for Q8IUA7

Type	Name	Position	InterPro Accession
domain	Aminotransferase, class I/classII	64 - 417	IPR004839

Functions

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

2 GO annotations of cellular component

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

4 GO annotations of molecular function

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

1 GO annotations of biological process

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

12 homologous proteins in AiPD

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

10	20	30	40	50	60
MSKRRMSVGQ	QTWALLCKNC	LKKWRMKRQT	LLEWLFSFLL	VLFLYLFFSN	LHQVHDTPQM
70	80	90	100	110	120
SSMDLGRVDS	FNDTNYVIAF	APESKTTQEI	MNKVASAPFL	KGRTIMGWPD	EKSMDELDLN
130	140	150	160	170	180
YSIDAVRVIF	TDTFSYHLKF	SWGHRIPMMK	EHRDHSAHCQ	AVNEKMKCEG	SEFWEKGFVA
190	200	210	220	230	240
FQAAINAAII	EIATNHSVME	QLMSVTGVHM	KILPFVAQGG	VATDFFIFFC	IISFSTFIYY
250	260	270	280	290	300
VSVNVTQERQ	YITSLMTMMG	LRESAFWLSW	GLMYAGFILI	MATLMALIVK	SAQIVVLTGF
310	320	330	340	350	360
VMVFTLFLLY	GLSLITLAFL	MSVLIKKPFL	TGLVVFLLIV	FWGILGFPAL	YTRLPAFLEW
370	380	390	400	410	420
TLCLLSPFAF	TVGMAQLIHL	DYDVNSNAHL	DSSQNPYLII	ATLFMLVFDT	LLYLVLTLYF
430	440	450	460	470	480
DKILPAEYGH	RCSPLFFLKS	CFWFQHGRAN	HVVLENETDS	DPTPNDCFEP	VSPEFCGKEA
490	500	510	520	530	540
IRIKNLKKEY	AGKCERVEAL	KGVVFDIYEG	QITALLGHSG	AGKTTLLNIL	SGLSVPTSGS
550	560	570	580	590	600
VTVYNHTLSR	MADIENISKF	TGFCPQSNVQ	FGFLTVKENL	RLFAKIKGIL	PHEVEKEVQR
610	620	630	640	650	660
VVQELEMENI	QDILAQNLSG	GQNRKLTFGI	AILGDPQVLL	LDEPTAGLDP	LSRHRIWNLL
670	680	690	700	710	720
KEGKSDRVIL	FSTQFIDEAD	ILADRKVFIS	NGKLKCAGSS	LFLKKKWGIG	YHLSLHLNER
730	740	750	760	770	780
CDPESITSLV	KQHISDAKLT	AQSEEKLVYI	LPLERTNKFP	ELYRDLDRCS	NQGIEDYGVS
790	800	810	820	830	840
ITTLNEVFLK	LEGKSTIDES	DIGIWGQLQT	DGAKDIGSLV	ELEQVLSSFH	ETRKTISGVA
850	860	870	880	890	900
LWRQQVCAIA	KVRFLKLKKE	RKSLWTILLL	FGISFIPQLL	EHLFYESYQK	SYPWELSPNT
910	920	930	940	950	960
YFLSPGQQPQ	DPLTHLLVIN	KTGSTIDNFL	HSLRRQNIAI	EVDAFGTRNG	TDDPSYNGAI
970	980	990	1000	1010	1020
IVSGDEKDHR	FSIACNTKRL	NCFPVLLDVI	SNGLLGIFNS	SEHIQTDRST	FFEEHMDYEY
1030	1040	1050	1060	1070	1080
GYRSNTFFWI	PMAASFTPYI	AMSSIGDYKK	KAHSQLRISG	LYPSAYWFGQ	ALVDVSLYFL
1090	1100	1110	1120	1130	1140
ILLLMQIMDY	IFSPEEIIFI	IQNLLIQILC	SIGYVSSLVF	LTYVISFIFR	NGRKNSGIWS
1150	1160	1170	1180	1190	1200
FFFLIVVIFS	IVATDLNEYG	FLGLFFGTML	IPPFTLIGSL	FIFSEISPDS	MDYLGASESE
1210	1220	1230	1240	1250	1260
IVYLALLIPY	LHFLIFLFIL	RCLEMNCRKK	LMRKDPVFRI	SPRSNAIFPN	PEEPEGEEED
1270	1280	1290	1300	1310	1320
IQMERMRTVN	AMAVRDFDET	PVIIASCLRK	EYAGKKKNCF	SKRKKKIATR	NVSFCVKKGE
1330	1340	1350	1360	1370	1380
VIGLLGHNGA	GKSTTIKMIT	GDTKPTAGQV	ILKGSGGGEP	LGFLGYCPQE	NALWPNLTVR
1390	1400	1410	1420	1430	1440
QHLEVYAAVK	GLRKGDAMIA	ITRLVDALKL	QDQLKAPVKT	LSEGIKRKLC	FVLSILGNPS
1450	1460	1470	1480	1490	1500
VVLLDEPSTG	MDPEGQQQMW	QVIRATFRNT	ERGALLTTHY	MAEAEAVCDR	VAIMVSGRLR
1510	1520	1530	1540	1550	1560
CIGSIQHLKS	KFGKDYLLEM	KLKNLAQMEP	LHAEILRLFP	QAAQQERFSS	LMVYKLPVED
1570	1580	1590	1600	1610	1620
VRPLSQAFFK	LEIVKQSFDL	EEYSLSQSTL	EQVFLELSKE	QELGDLEEDF	DPSVKWKLLL

QEEP