AiPD: Autoinhibited Protein Database

Q96PC5

Gene name	MIA2
Protein name	Melanoma inhibitory activity protein 2
Names	MIA protein 2, CTAGE family member 5 ER export factor, Cutaneous T-cell lymphoma-associated antigen 5, Meningioma-expressed antigen 6/11
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4253
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

99-531 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

99-531 (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 Q96PC5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96PC5-F1	Predicted				AlphaFoldDB

1209 variants for Q96PC5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA7163499 rs748647367	2	A>V		No	ClinGen ExAC TOPMed gnomAD
rs773529136 CA7163501	4	F>S		No	ClinGen ExAC TOPMed gnomAD
CA389539503 rs1162180340	5	G>S		No	ClinGen TOPMed
rs762540444 CA7163502	6	V>I		No	ClinGen ExAC TOPMed gnomAD
CA389539517 rs762540444	6	V>L		No	ClinGen ExAC TOPMed gnomAD
CA389539529 rs1227577976	7	H>Y		No	ClinGen gnomAD
CA7163503 rs138277028	8	R>G		No	ClinGen ESP ExAC gnomAD
CA7163505 rs1555340990	9	I>M		No	ClinGen Ensembl
rs1468848356 CA389539570	10	L>F		No	ClinGen TOPMed
rs774182326 CA7163507	11	L>F		No	ClinGen ExAC
rs769447194	12	L>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs759233719 CA7163508	13	A>T		No	ClinGen ExAC gnomAD
rs1205881416 CA389539642	16	L>P		No	ClinGen gnomAD
TCGA novel	18	K>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7163510 rs767470254	19	C>G		No	ClinGen ExAC gnomAD
rs767470254 CA7163509	19	C>R		No	ClinGen ExAC gnomAD
rs1429482302 CA389539689	21	E>D		No	ClinGen gnomAD
rs1243468701 CA389539700	22	S>N		No	ClinGen TOPMed gnomAD
rs1566577598 CA389539712	23	T>A		No	ClinGen Ensembl
rs905438455 CA259516963	23	T>K		No	ClinGen TOPMed gnomAD
CA389539738 rs1478838672	25	L>P		No	ClinGen TOPMed gnomAD
CA389539745 rs1354287489	27	A>T		No	ClinGen TOPMed
rs753658285 CA7163514	28	D>E		No	ClinGen ExAC gnomAD
rs1170355305 CA389539823	30	K>R		No	ClinGen gnomAD
TCGA novel	31	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1369307236 CA389539866	32	C>Y		No	ClinGen TOPMed
rs1331891111 CA389539910	34	D>E		No	ClinGen gnomAD
CA7163517 rs780067652	34	D>H		No	ClinGen ExAC TOPMed gnomAD
CA389539938 rs1437669644	36	E>*		No	ClinGen TOPMed
rs1438963012 CA389539966	37	C>Y		No	ClinGen gnomAD
rs755166620 CA7163519	38	E>A		No	ClinGen ExAC gnomAD
rs758915711 CA7163518	38	E>K		No	ClinGen ExAC gnomAD
rs1423976347 CA389540670	39	A>V		No	ClinGen TOPMed gnomAD
rs1346004523 CA389540690	41	I>V		No	ClinGen TOPMed
rs1384523915	43	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389540755 rs1169143679	45	S>L		No	ClinGen TOPMed gnomAD
rs199555703 CA259518679	47	M>I		No	ClinGen Ensembl
rs1245744378 CA389540776	47	M>V		No	ClinGen TOPMed gnomAD
CA259518685 rs201758391	48	R>S		No	ClinGen TOPMed gnomAD
CA389540806 rs1184188066	49	D>N		No	ClinGen gnomAD
TCGA novel	49	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389540889 rs1370144710	52	G>E		No	ClinGen TOPMed gnomAD
rs1162444151 CA389540906	53	P>S		No	ClinGen gnomAD
rs752816344 CA389540940	54	D>E		No	ClinGen ExAC gnomAD
CA7163542 rs756537091	56	R>*		No	ClinGen ExAC TOPMed gnomAD
rs545707783 COSM282792 CA7163543	56	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs749859969 CA7163544	57	Y>F		No	ClinGen ExAC gnomAD
CA7163546 rs778635580	58	L>V		No	ClinGen ExAC gnomAD
rs868160525 CA259518744	60	F>S		No	ClinGen Ensembl
rs1405221877 COSM187341 CA389541164	61	T>I	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1263923126 CA389541183	63	G>R		No	ClinGen TOPMed
CA389541194 rs1189523205	64	E>Q		No	ClinGen TOPMed
rs369305426 CA7163548	66	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA259518745 rs953964539	67	S>F		No	ClinGen Ensembl
CA7163549 rs538322355	68	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs746601367 CA7163550	69	Y>D		No	ClinGen ExAC gnomAD
rs1230936946 CA389541278	70	V>I		No	ClinGen TOPMed
rs1035655619 CA259518799	71	K>Q		No	ClinGen TOPMed gnomAD
CA389541301 rs1295658111	72	L>V		No	ClinGen TOPMed
CA259518801 rs958698829	74	G>E		No	ClinGen TOPMed gnomAD
rs1186568530 CA389541336	75	E>Q		No	ClinGen gnomAD
rs773063861 CA7163555	76	R>K		No	ClinGen ExAC TOPMed gnomAD
rs773063861 CA7163556	76	R>M		No	ClinGen ExAC TOPMed gnomAD
CA389541404 rs1594598202	80	W>*		No	ClinGen Ensembl
TCGA novel	83	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389542023 rs1594621880	84	K>Q		No	ClinGen Ensembl
TCGA novel	85	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143404451 CA7163594	85	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7163593 rs147972251	85	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7163595 rs760685665	87	E>D		No	ClinGen ExAC TOPMed gnomAD
CA389542143 rs1474664970	90	Y>C		No	ClinGen gnomAD
rs777022171 CA7163597	92	P>R		No	ClinGen ExAC gnomAD
rs762094304 CA7163598	94	D>N		No	ClinGen ExAC gnomAD
rs765745661 CA7163599	95	A>G		No	ClinGen ExAC gnomAD
CA7163603 rs752044189	98	I>M		No	ClinGen ExAC gnomAD
rs766797743 CA7163602	98	I>T		No	ClinGen ExAC gnomAD
rs763580113 CA7163601	98	I>V		No	ClinGen ExAC gnomAD
CA389542277 rs1378108473	100	E>D		No	ClinGen gnomAD
rs1260664623 CA389542282	101	V>M		No	ClinGen TOPMed
rs1566585810 CA389542312	103	I>K		No	ClinGen Ensembl
CA7163604 rs754466805	103	I>V		No	ClinGen ExAC gnomAD
rs780652556 CA7163605	104	S>F		No	ClinGen ExAC gnomAD
CA389542368 rs1331501347	106	E>D		No	ClinGen gnomAD
CA7163607 rs377730003	109	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs752400338 CA7163606	109	M>K		No	ClinGen ExAC gnomAD
rs777611456 CA7163608	111	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1023233245 CA259527224	116	F>V		No	ClinGen TOPMed
CA389544526 rs1566593043	118	C>Y		No	ClinGen Ensembl
rs1474190503 CA389544562	120	L>P		No	ClinGen TOPMed
CA389544565 rs1474190503	120	L>R		No	ClinGen TOPMed
rs752204140 CA7163624	121	G>R		No	ClinGen ExAC gnomAD
CA259527261 rs746070884	122	V>A		No	ClinGen ExAC TOPMed gnomAD
rs746070884 CA7163625	122	V>E		No	ClinGen ExAC TOPMed gnomAD
rs746070884 CA259527262	122	V>G		No	ClinGen ExAC TOPMed gnomAD
CA7163626 rs763750427	123	S>R		No	ClinGen ExAC TOPMed
CA389544630 rs1438633014	124	Y>H		No	ClinGen gnomAD
TCGA novel	125	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7163627 rs753483210	130	D>G		No	ClinGen ExAC TOPMed gnomAD
CA7163629 rs570181343	135	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs570181343 CA7163630	135	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389544964 rs1195590083	140	N>Y		No	ClinGen gnomAD
rs11845046 CA7163633	141	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	143	P>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1218738060 CA389544987	143	P>S		No	ClinGen gnomAD
rs1218738060 CA389544985	143	P>T		No	ClinGen gnomAD
rs1190381136 CA389544996	144	Y>*		No	ClinGen gnomAD
CA7163634 rs769933092	144	Y>F		No	ClinGen ExAC gnomAD
rs1251878355 CA389544993	144	Y>H		No	ClinGen gnomAD
CA7163635 rs773325212	146	E>D		No	ClinGen ExAC gnomAD
rs572704853 CA7163636	147	D>H		No	ClinGen 1000Genomes ExAC gnomAD
CA389545021 rs771251525	148	K>*		No	ClinGen ExAC TOPMed gnomAD
rs771251525 CA7163637	148	K>E		No	ClinGen ExAC TOPMed gnomAD
CA389545022 rs1391712241	148	K>T		No	ClinGen gnomAD
CA389545031 rs1277162993	149	D>G		No	ClinGen gnomAD
CA7163638 rs774768341	154	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7163639 rs144750088	155	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs144750088 CA389545071	155	Y>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7163640 rs768016346	156	E>A		No	ClinGen ExAC TOPMed gnomAD
CA389545082 rs1395409674	156	E>D		No	ClinGen TOPMed
rs768016346 CA259527338	156	E>G		No	ClinGen ExAC TOPMed gnomAD
rs749803627 CA259527346	159	F>L		No	ClinGen Ensembl
rs200839305 CA7163641	161	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA389545122 rs1459670180	162	E>Q		No	ClinGen TOPMed
CA389545130 rs1323057593	163	P>A		No	ClinGen gnomAD
CA259527353 rs946610933	165	F>V		No	ClinGen gnomAD
CA389545159 rs1357990553	167	A>E		No	ClinGen gnomAD
CA389545161 rs1357990553	167	A>V		No	ClinGen gnomAD
CA389545169 rs1272174788	169	Y>D		No	ClinGen gnomAD
CA389545173 rs1464924855	169	Y>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs760201892 CA7163642	170	E>G		No	ClinGen ExAC TOPMed gnomAD
CA7163643 rs200655934	172	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1246054168 CA389545206	174	F>Y		No	ClinGen gnomAD
rs753470816 CA7163645	175	E>K		No	ClinGen ExAC gnomAD
CA389545231 rs1370019568	177	Q>H		No	ClinGen TOPMed gnomAD
CA7163646 rs138929059	177	Q>R		No	ClinGen ESP ExAC gnomAD
rs142937614 CA7163648	181	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7163649 rs758195907	181	L>S		No	ClinGen ExAC TOPMed gnomAD
CA7163647 rs142937614	181	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1417415923 CA389545264	183	A>P		No	ClinGen gnomAD
rs1417415923 CA389545263	183	A>S		No	ClinGen gnomAD
CA7163650 rs780150330	186	D>G		No	ClinGen ExAC gnomAD
rs569440142 CA7163651	187	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389545292 rs1383430718	187	I>V		No	ClinGen gnomAD
CA7163653 rs774797085 COSM955679	188	G>R	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA389545302 rs1413358490	189	S>G		No	ClinGen gnomAD
TCGA novel	192	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389545324 rs1304964046	192	E>Q		No	ClinGen TOPMed
rs1236585804 CA389545337	194	K>Q		No	ClinGen TOPMed
CA389545354 rs1329449976	196	W>R		No	ClinGen gnomAD
CA7163655 rs771184198	197	E>G		No	ClinGen ExAC gnomAD
rs1258508725 CA389545373	198	E>G		No	ClinGen gnomAD
rs774373731 CA7163657	199	V>A		No	ClinGen ExAC TOPMed gnomAD
rs774373731 CA7163656	199	V>E		No	ClinGen ExAC TOPMed gnomAD
CA259527452 rs750704296	199	V>L		No	ClinGen Ensembl
CA7163658 rs772380031	201	V>A		No	ClinGen ExAC gnomAD
rs1258213444 CA389545391	202	E>K		No	ClinGen gnomAD
CA259527476 rs199789634	203	S>G		No	ClinGen Ensembl
rs762228942 CA7163660	203	S>N		No	ClinGen ExAC gnomAD
rs762228942 CA7163659	203	S>T		No	ClinGen ExAC gnomAD
CA389545415 rs1186969925	205	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs768099235 CA389545422	206	Q>E	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776189847 CA7163662	206	Q>H		No	ClinGen ExAC gnomAD
rs768099235 CA7163661	206	Q>K		No	ClinGen ExAC gnomAD
rs767961449 CA259527495	207	D>E		No	ClinGen Ensembl
rs942254770 CA259527510 COSM230285	208	R>C	NS Variant assessed as Somatic; impact. skin prostate [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA7163663 rs201452940	208	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389545437 rs201452940	208	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764947896 CA7163664	210	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7163665 rs750037827	212	V>E		No	ClinGen ExAC gnomAD
rs919254379 CA259527539	212	V>L		No	ClinGen TOPMed gnomAD
rs919254379 CA389545458	212	V>M		No	ClinGen TOPMed gnomAD
rs896205571 CA259527562	213	H>Q		No	ClinGen TOPMed
rs762862635 CA7163666	213	H>Y		No	ClinGen ExAC gnomAD
CA259527563 rs949474999	214	V>A		No	ClinGen TOPMed
CA389545474 rs1191325538	215	P>S		No	ClinGen TOPMed
CA7163668 rs79728805	216	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs79728805 CA389545479	216	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389545493 rs1411324589	218	S>*		No	ClinGen TOPMed gnomAD
CA389545506 rs1284494182	220	V>A		No	ClinGen TOPMed
CA389545504 rs1304206858	220	V>M		No	ClinGen TOPMed gnomAD
rs1334615385 CA389545510	221	S>A		No	ClinGen TOPMed gnomAD
CA389545513 rs1211527226	221	S>F		No	ClinGen TOPMed
CA7163669 rs754954959	226	W>C		No	ClinGen ExAC gnomAD
TCGA novel	227	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1483491014 CA389545648	231	G>E		No	ClinGen gnomAD
rs970312463 CA259527574	231	G>R		No	ClinGen Ensembl
rs757230228 CA7163672	232	E>K		No	ClinGen ExAC gnomAD
CA7163673 rs779222725	233	Q>E		No	ClinGen ExAC
TCGA novel	236	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389545775 rs1418512391	238	A>D		No	ClinGen gnomAD
CA7163674 rs746054215	238	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1418512391 CA389545781	238	A>V		No	ClinGen gnomAD
rs772468582 CA259527592	239	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7163675 rs772468582	239	F>V		No	ClinGen ExAC TOPMed gnomAD
rs747569644 CA7163678	240	E>*		No	ClinGen ExAC gnomAD
rs1296028811 CA389545801	240	E>A		No	ClinGen TOPMed
rs747569644 CA7163677	240	E>Q		No	ClinGen ExAC gnomAD
CA259527599 rs995129078	241	S>*		No	ClinGen Ensembl
CA389545830 rs1371615202	242	V>G		No	ClinGen gnomAD
CA259527601 rs937836218	242	V>L		No	ClinGen TOPMed
rs776931775 CA7163679	243	I>M		No	ClinGen ExAC gnomAD
CA389545841 rs1382772223	243	I>T		No	ClinGen TOPMed
rs201372596 CA7163680	244	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA389545863 rs1386828379	245	P>S		No	ClinGen gnomAD
CA389545860 rs1386828379	245	P>T		No	ClinGen gnomAD
CA389545872 rs1302855840	246	V>L		No	ClinGen gnomAD
CA7163681 rs769135971	247	Q>*		No	ClinGen ExAC gnomAD
rs1233536062 CA389545884	247	Q>R		No	ClinGen gnomAD
rs1298269235 CA389545912	249	S>G		No	ClinGen gnomAD
CA7163682 rs150000006	250	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7163684 rs766336241	252	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs762661827 COSM176762 CA7163683	252	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA389545977 rs1210508143	253	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs144276859 CA7163686	253	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7163688 rs752532321	254	R>S		No	ClinGen ExAC gnomAD
CA7163689 rs757392945	258	V>M		No	ClinGen ExAC gnomAD
rs373587160 CA7163691	261	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7163693 rs780460557	263	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	266	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768841258 CA7163695	269	N>S		No	ClinGen ExAC gnomAD
rs781733776 CA7163696	270	G>S		No	ClinGen ExAC gnomAD
CA7163697 rs748563193	271	E>K		No	ClinGen ExAC gnomAD
CA259527697 rs900829298	272	P>L		No	ClinGen TOPMed gnomAD
rs1212573401 CA389546390	275	E>Q		No	ClinGen gnomAD
rs143585077 CA259527710	276	H>N		No	ClinGen ESP
rs921906573 CA259527723	278	Q>E		No	ClinGen Ensembl
rs1307702491 CA389546493	280	S>T		No	ClinGen gnomAD
rs1428269391 CA389546577	284	I>M		No	ClinGen TOPMed
rs1294677448 CA389546587	285	D>Y		No	ClinGen gnomAD
CA7163698 rs769384693	286	S>*		No	ClinGen ExAC
rs1245867892 CA389546616	287	V>L		No	ClinGen TOPMed gnomAD
rs1245867892 CA389546611	287	V>M		No	ClinGen TOPMed gnomAD
rs1275310633 COSM312864 CA389546637	288	P>Q	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs749017711 CA7163700	289	K>E		No	ClinGen ExAC gnomAD
rs997929637 CA259527771 COSM262014	289	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1594660413 CA389546660	290	T>A		No	ClinGen Ensembl
CA7163701 rs770712900	292	S>C		No	ClinGen ExAC TOPMed gnomAD
CA259527783 rs770712900	292	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA7163702 rs774090352	293	E>K		No	ClinGen ExAC gnomAD
CA7163703 rs759397767	295	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1198732042 CA389546770	297	E>*		No	ClinGen TOPMed
rs758383265 CA7163704	299	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs775541540 CA7163705	301	I>V		No	ClinGen ExAC gnomAD
rs750494587 CA7163709	306	S>T		No	ClinGen ExAC
CA7163710 rs146799201	307	T>A		No	ClinGen ESP ExAC gnomAD
CA259527805 rs146799201	307	T>S		No	ClinGen ESP ExAC gnomAD
CA389546926 rs766597236	308	G>R		No	ClinGen ExAC TOPMed
CA7163711 rs766597236	308	G>S		No	ClinGen ExAC TOPMed
rs751683458 CA7163712	308	G>V		No	ClinGen ExAC gnomAD
CA7163713 rs755400904	309	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1310616892 CA389546966	311	G>D		No	ClinGen TOPMed
rs781378375 CA7163714 COSM1707288	313	G>R	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7163715 rs140694928	313	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs865955589 CA259527814	316	S>N		No	ClinGen TOPMed gnomAD
rs1232742166 CA389547042	317	Y>S		No	ClinGen gnomAD
rs756576414 CA7163716	318	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1436719924 CA389547063	319	G>S		No	ClinGen TOPMed gnomAD
rs1214210439 CA389547090	320	F>L		No	ClinGen TOPMed gnomAD
rs778359658 CA7163717	321	G>E		No	ClinGen ExAC gnomAD
CA7163718 rs748821478	322	D>Y		No	ClinGen ExAC gnomAD
rs561703368 CA7163720	324	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA7163719 rs770516575	324	D>H		No	ClinGen ExAC gnomAD
rs770516575 CA389547132	324	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1474715185 CA389547149	325	T>A		No	ClinGen gnomAD
rs896256402 CA259527878	328	E>G		No	ClinGen Ensembl
CA7163721 rs745482211	331	A>G		No	ClinGen ExAC TOPMed gnomAD
CA389547264 rs1398477201	333	E>A		No	ClinGen gnomAD
rs760730644 CA7163724	334	S>T		No	ClinGen ExAC gnomAD
CA7163725 rs764020286	335	N>Y		No	ClinGen ExAC gnomAD
CA389547302 rs776490519	336	P>A		No	ClinGen ExAC gnomAD
CA7163726 rs776490519	336	P>T		No	ClinGen ExAC gnomAD
CA7163727 rs79946692	337	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371975392 CA259527906	338	L>V		No	ClinGen ESP
rs751846731 CA7163729	339	Q>K		No	ClinGen ExAC gnomAD
CA7163732 rs3825549	344	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7163733 rs753010579	345	I>K		No	ClinGen ExAC gnomAD
rs183367995 CA259527920	345	I>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs778447741 CA7163736	347	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA259527925 rs1044823798	347	S>P		No	ClinGen gnomAD
CA389547475 rs1278689430	348	D>E		No	ClinGen gnomAD
CA7163737 rs754357276	350	E>K		No	ClinGen ExAC gnomAD
rs142210112 CA7163739	351	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142210112 CA7163738	351	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142210112 CA259527951	351	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389547518 rs1234288680	352	T>S		No	ClinGen TOPMed gnomAD
TCGA novel	354	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389547551 rs779686646	355	C>F		No	ClinGen ExAC gnomAD
rs201958950 CA7163740	355	C>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7163741 rs201958950	355	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7163742 rs779686646	355	C>Y		No	ClinGen ExAC gnomAD
TCGA novel	357	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	357	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs566240379 CA259527959	358	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs566240379 CA7163743	358	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1374569081 CA389547608	359	L>*		No	ClinGen gnomAD
CA389547604 rs1171494905	359	L>I		No	ClinGen gnomAD
CA389547617 rs1430197960	360	T>K		No	ClinGen gnomAD
rs141053276 CA7163745	361	E>G		No	ClinGen ESP ExAC
CA389547623 rs1327549557 COSM1188803	361	E>K	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs150254185 CA7163746	362	K>*		No	ClinGen ESP ExAC TOPMed
rs761706427 CA7163747	362	K>N		No	ClinGen ExAC gnomAD
rs538500709	364	D>R	Variant assessed as Somatic; 4.745e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs538500709	364	D>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1440095460 COSM3419793 CA389547667	364	D>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs771046435 CA7163749	366	I>N		No	ClinGen ExAC gnomAD
rs771046435 CA7163748	366	I>T		No	ClinGen ExAC gnomAD
CA389547719 rs1372324656	367	T>A		No	ClinGen gnomAD
rs1301912098 CA389547737	368	N>S		No	ClinGen gnomAD
CA7163752 rs144936548	371	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1203166053 CA389547819	373	L>F		No	ClinGen gnomAD
rs1246830223 CA389547822	373	L>H		No	ClinGen gnomAD
CA389547843 rs1191624947	375	P>S		No	ClinGen gnomAD
CA259528019 rs1019045566	376	S>N		No	ClinGen Ensembl
CA389547866 rs373101588	376	S>R		No	ClinGen ESP TOPMed gnomAD
CA389547884 rs1169488410	377	W>C		No	ClinGen gnomAD
rs1449784183 CA389547879	377	W>L		No	ClinGen gnomAD
rs761153712 CA7163753	379	D>N		No	ClinGen ExAC gnomAD
CA7163754 rs774176641	379	D>V		No	ClinGen ExAC gnomAD
CA389547939 rs1328244286	381	G>A		No	ClinGen gnomAD
CA259528045 rs974824604	382	F>I		No	ClinGen Ensembl
CA7163755 rs754449120	383	A>G		No	ClinGen ExAC TOPMed gnomAD
CA389547967 rs754449120	383	A>V		No	ClinGen ExAC TOPMed gnomAD
rs778555346 CA7163757	384	I>M		No	ClinGen ExAC TOPMed gnomAD
CA7163756 rs757829732	384	I>T		No	ClinGen ExAC gnomAD
rs1370931343 CA389547988	385	L>P		No	ClinGen gnomAD
rs1370931343 CA389547990	385	L>R		No	ClinGen gnomAD
CA7163758 rs749904088	386	G>S		No	ClinGen ExAC TOPMed gnomAD
CA389548018 rs1272360490	388	A>S		No	ClinGen gnomAD
CA259528094 rs1049344571	389	Y>F		No	ClinGen TOPMed
rs1255110691 CA389548029	389	Y>H		No	ClinGen TOPMed
TCGA novel	390	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757863772 CA389548055	391	K>E		No	ClinGen ExAC TOPMed gnomAD
rs757863772 CA7163759	391	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1290182390 CA389548071	392	E>K		No	ClinGen gnomAD
rs1336208950 CA389548095	393	D>G		No	ClinGen gnomAD
rs1225417202 CA389548092	393	D>Y		No	ClinGen TOPMed
rs1351243104 CA389548123	395	I>V		No	ClinGen TOPMed
rs780942870 CA7163763	396	M>I		No	ClinGen ExAC TOPMed gnomAD
CA7163762 rs768478340	396	M>T		No	ClinGen ExAC TOPMed gnomAD
rs746621016 CA7163761	396	M>V		No	ClinGen ExAC gnomAD
CA259528142 rs889548110	397	L>S		No	ClinGen TOPMed
CA259528143 rs199898994	398	D>G		No	ClinGen gnomAD
rs1195023059 CA389548159	398	D>H		No	ClinGen gnomAD
rs748139771 CA7163764	399	D>N		No	ClinGen ExAC gnomAD
rs1167518465 CA389548185	400	R>G		No	ClinGen gnomAD
CA259528149 rs1005270546	400	R>K		No	ClinGen TOPMed
CA259528161 rs142116917	401	K>E		No	ClinGen ESP TOPMed gnomAD
rs769717609 CA7163765	402	N>D		No	ClinGen ExAC TOPMed gnomAD
rs769717609 CA389548213	402	N>H		No	ClinGen ExAC TOPMed gnomAD
CA7163766 rs773145091	403	E>K		No	ClinGen ExAC TOPMed gnomAD
CA259528201 rs923884537	403	E>V		No	ClinGen Ensembl
CA259528204 CA7163768 rs145761265	404	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs759559409 CA7163767	404	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1437882616 CA389548274	406	G>C		No	ClinGen TOPMed
CA389548284 rs1325006327	407	G>R		No	ClinGen TOPMed gnomAD
CA7163772 rs754254699	409	D>G		No	ClinGen ExAC gnomAD
CA7163771 rs764615775	409	D>Y		No	ClinGen ExAC gnomAD
CA389548329 rs1230916788	410	E>A		No	ClinGen gnomAD
CA389548334 rs1272034274	410	E>D		No	ClinGen gnomAD
CA259528256 rs749274596	411	H>R		No	ClinGen Ensembl
rs142845107 CA7163773	411	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA7163774 rs765673366	413	H>P		No	ClinGen ExAC gnomAD
rs1258458069 CA389548452	419	L>F		No	ClinGen gnomAD
CA389548442 rs1188022371	419	L>I		No	ClinGen gnomAD
rs1566595563 CA389548456	420	D>N		No	ClinGen Ensembl
CA7163777 rs556572280	421	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA7163778 rs751261237	422	E>D		No	ClinGen ExAC gnomAD
CA389548534 rs754609767	425	Q>*		No	ClinGen ExAC gnomAD
rs754609767 CA7163779	425	Q>K		No	ClinGen ExAC gnomAD
rs537063219 CA7163781	426	E>V		No	ClinGen 1000Genomes ExAC gnomAD
CA389548597 rs35757487	429	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7163782 rs35757487	429	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389548603 rs1426428481	430	I>V		No	ClinGen TOPMed gnomAD
rs755891277 CA7163783	431	K>R		No	ClinGen ExAC gnomAD
rs377714611 CA7163785	432	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs148068984 CA7163784	432	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1400590133 CA389548650	433	I>T		No	ClinGen gnomAD
rs772097337 CA7163786	434	E>G		No	ClinGen ExAC gnomAD
TCGA novel	436	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1240597955 CA389548682	436	E>K		No	ClinGen gnomAD
rs747304823 CA7163788	437	D>A		No	ClinGen ExAC TOPMed gnomAD
rs747304823 CA7163789 COSM1369780	437	D>G	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
VAR_036460	437	D>H	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs201043209 CA7163787	437	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs886710941 CA259528431	438	Q>P		No	ClinGen Ensembl
rs776932267 CA7163790	439	I>L		No	ClinGen ExAC gnomAD
rs1282281535 CA389548753	440	D>E		No	ClinGen gnomAD
TCGA novel	440	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs545679883 CA7163791	441	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA7163792 rs765592561	441	K>R		No	ClinGen ExAC
TCGA novel	441	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389548771 rs1433311391	442	K>E		No	ClinGen TOPMed
rs1208922727 CA389548774	442	K>R		No	ClinGen gnomAD
rs141722164 CA7163794	443	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141722164 CA7163793	443	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765863648 CA7163795	444	V>L		No	ClinGen ExAC gnomAD
CA7163796 rs751062728	447	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1377593519 CA389548850	448	T>A		No	ClinGen TOPMed gnomAD
rs767179897 CA7163801	449	D>E		No	ClinGen ExAC TOPMed gnomAD
rs150574224 CA7163799	449	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA259528510 rs1042169482	450	E>D		No	ClinGen TOPMed
COSM225022 rs1392601524 CA389548880	450	E>K	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs755902783 CA7163802	451	S>F		No	ClinGen ExAC gnomAD
TCGA novel	451	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7163803 rs777603838 CA7163804	452	D>E		No	ClinGen ExAC gnomAD
rs546360780 CA259528519	452	D>G		No	ClinGen gnomAD
CA7163806 rs757219069	454	I>L		No	ClinGen ExAC TOPMed
CA259528541 rs757219069	454	I>V		No	ClinGen ExAC TOPMed
CA389548957 rs1233324696	455	P>Q		No	ClinGen gnomAD
rs1345424760 CA389548954	455	P>S		No	ClinGen gnomAD
rs771314653 CA7163810	456	Y>*		No	ClinGen ExAC gnomAD
rs778930076 CA389548969	456	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA389548967 rs778930076	456	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs778930076 CA7163809	456	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA389548988 rs1241482139	457	L>V		No	ClinGen TOPMed
CA389549034 rs1594662167	459	K>N		No	ClinGen Ensembl
rs996295991 CA259528584	460	F>C		No	ClinGen Ensembl
CA389549077 rs1197625703	461	L>S		No	ClinGen gnomAD
rs140072290 CA7163811	462	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7163812 rs142049627	463	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1486583479 CA389549122	463	N>S		No	ClinGen TOPMed
CA259528602 rs1000894488	464	F>L		No	ClinGen Ensembl
CA7163813 rs374855879	467	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA7163816 rs773613429	473	I>V		No	ClinGen ExAC TOPMed gnomAD
rs956719670 CA259528642	474	P>L		No	ClinGen gnomAD
CA389549410 rs1165633801	477	T>A		No	ClinGen gnomAD
CA389549425 rs1395065267	477	T>R		No	ClinGen gnomAD
rs1441050150 CA389549469	479	L>F		No	ClinGen TOPMed gnomAD
CA7163817 rs763435401	480	P>L		No	ClinGen ExAC gnomAD
CA7163818 rs766875073	482	P>S		No	ClinGen ExAC gnomAD
CA389549516 rs1340539294	483	K>E		No	ClinGen TOPMed
rs1296113279 CA389549530	484	Q>P		No	ClinGen gnomAD
rs774792490 CA7163819	485	I>V		No	ClinGen ExAC gnomAD
CA7163821 rs759079824	492	I>T		No	ClinGen ExAC gnomAD
rs896865861 CA259528648	492	I>V		No	ClinGen TOPMed
CA389549721 rs1566596198	493	E>G		No	ClinGen Ensembl
rs1265518023 CA389549715	493	E>K		No	ClinGen TOPMed gnomAD
CA7163822 rs766983388	494	N>K		No	ClinGen ExAC TOPMed gnomAD
CA389549768 rs1214419543	495	E>D		No	ClinGen gnomAD
CA7163823 rs183212485	496	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149735010 CA7163824	496	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389549793 rs1376400103	497	T>S		No	ClinGen gnomAD
CA389549799 rs1357689526	498	G>E		No	ClinGen TOPMed
rs1172757260 CA389549829	500	F>C		No	ClinGen TOPMed
rs1422504093 CA389549861	502	I>T		No	ClinGen TOPMed gnomAD
CA7163827 rs756947804	502	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7163829 rs370603935	503	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1392200652 CA389549883	503	D>E		No	ClinGen gnomAD
rs374960961 CA7163830	504	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA389549914 rs1289389362	505	Y>S		No	ClinGen gnomAD
CA389549944 rs1258124151	506	P>H		No	ClinGen TOPMed
rs781395330 CA7163831	506	P>S		No	ClinGen ExAC gnomAD
rs969244454 CA259528740	507	T>R		No	ClinGen Ensembl
CA389549976 rs1340183531	508	D>G		No	ClinGen gnomAD
CA389549992 rs1233939522	509	N>S		No	ClinGen gnomAD
rs1180826719 CA389550008 COSM312863	510	T>R	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1481971577 CA389550032	511	K>E		No	ClinGen TOPMed
CA7163833 rs770050182	513	M>R		No	ClinGen ExAC gnomAD
TCGA novel	514	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7163834 rs777789588	514	I>V		No	ClinGen ExAC gnomAD
CA7163835 rs749675089	517	S>G		No	ClinGen ExAC gnomAD
rs1204809056 CA389550210	519	Y>C		No	ClinGen TOPMed
CA389550220 rs1566596407	520	S>G		No	ClinGen Ensembl
CA389550229 rs1306503281	520	S>I		No	ClinGen TOPMed
rs1257831581 CA389550255	522	S>T		No	ClinGen TOPMed
rs1487027736 CA389550291	523	D>N		No	ClinGen gnomAD
CA389552221 rs1177325189	523	D>V		No	ClinGen gnomAD
rs1487027736 CA389550298	523	D>Y		No	ClinGen gnomAD
CA389552231 rs1417314260	524	M>T		No	ClinGen gnomAD
CA7163855 rs749441423	524	M>V		No	ClinGen ExAC gnomAD
CA259532212 rs781421062	529	E>Q		No	ClinGen Ensembl
CA259532215 rs139190285	532	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139190285 COSM2155885 CA7163857	532	T>M	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA7163860 rs149963978	535	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1314950421 CA389552347	535	H>Y		No	ClinGen gnomAD
CA7163861 COSM1515494 rs200876456	536	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7163862 rs200876456	536	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA389552382 rs1222510581	538	V>L		No	ClinGen gnomAD
rs1037632707 CA259532235	540	F>C		No	ClinGen Ensembl
TCGA novel	540	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7163866 rs145399699	542	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs761532277 CA7163865	542	P>S		No	ClinGen ExAC gnomAD
rs762768093 CA7163868	543	S>A		No	ClinGen ExAC gnomAD
CA389552451 rs1435368681	544	S>C		No	ClinGen TOPMed gnomAD
rs756259009 CA389552484	547	D>G		No	ClinGen ExAC TOPMed gnomAD
CA7163870 rs10134365	547	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389552478 rs10134365	547	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756259009 CA7163871	547	D>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	550	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764058557 CA7163872	551	N>D		No	ClinGen ExAC gnomAD
CA7163873 rs754149612	552	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA259532265 rs778572939	552	S>P		No	ClinGen Ensembl
rs780645950 CA7163878	558	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1444695405 CA389552634	559	E>D		No	ClinGen gnomAD
COSM162473 CA7163880 rs146422472	559	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs79559724 CA259532328	563	L>P		No	ClinGen Ensembl
CA7163881 rs775987976	563	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7163882 rs747874770	564	V>L		No	ClinGen ExAC gnomAD
CA389552688 rs747874770	564	V>M		No	ClinGen ExAC gnomAD
rs1443525044 CA389552707	565	E>A		No	ClinGen gnomAD
rs1443525044 CA389552710	565	E>V		No	ClinGen gnomAD
CA389552719 rs1273508106	566	I>L		No	ClinGen gnomAD
CA389552726 rs187547775	566	I>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7163883 rs187547775	566	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772941785 CA7163884	567	D>E		No	ClinGen ExAC TOPMed gnomAD
rs766057670 CA7163886	569	S>F		No	ClinGen ExAC gnomAD
rs147941751 CA7163885	569	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7163888 rs759379995	571	E>G		No	ClinGen ExAC gnomAD
CA389552881 rs1469822565	575	L>V		No	ClinGen TOPMed gnomAD
CA389552937 rs1481863055	577	S>N		No	ClinGen TOPMed
CA389552961 rs1250130727	578	Q>H		No	ClinGen TOPMed
CA389552984 rs1245857210	580	V>I		No	ClinGen TOPMed gnomAD
rs764303604 CA7163889	581	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1187291281 CA389553124	585	S>C		No	ClinGen gnomAD
rs753923189 CA7163890	586	L>V		No	ClinGen ExAC TOPMed gnomAD
rs976520968 CA259532398	587	S>F		No	ClinGen TOPMed
CA7163891 COSM3814790 rs757273227	588	S>F	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7163892 rs765469607	591	Y>H		No	ClinGen ExAC gnomAD
CA7163893 rs750607153	593	S>P		No	ClinGen ExAC TOPMed gnomAD
rs374627280 CA7163902	598	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7163903 rs145877161	602	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1476228885 CA389553592	605	K>E		No	ClinGen gnomAD
rs374834378 CA7163904	608	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7163905 rs770816708	610	I>T		No	ClinGen ExAC gnomAD
rs1263686164 CA389553676	610	I>V		No	ClinGen TOPMed gnomAD
rs1401622886 CA389553698	611	D>V		No	ClinGen gnomAD
CA389553716 rs1234153907	612	V>A		No	ClinGen TOPMed
CA7163907 rs61732342	614	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389553775 rs771919769 CA7163908	616	M>I		No	ClinGen ExAC TOPMed gnomAD
rs775359470 CA7163909	617	N>Y		No	ClinGen ExAC gnomAD
CA389553840 rs188496847	623	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765272789 CA7163911	623	I>T		No	ClinGen ExAC TOPMed gnomAD
rs188496847 CA7163910	623	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7163912 rs750690057	627	T>K		No	ClinGen ExAC TOPMed gnomAD
rs920525944 CA259532590	629	R>K		No	ClinGen Ensembl
rs763068990 CA7163913	629	R>S		No	ClinGen ExAC gnomAD
rs773855574 CA7164017	630	V>I		No	ClinGen ExAC gnomAD
rs1403068791 CA389556795	632	A>T		No	ClinGen gnomAD
rs1464471085 CA389556805	632	A>V		No	ClinGen gnomAD
rs767223451 CA7164019	633	A>G		No	ClinGen ExAC TOPMed gnomAD
CA389556821 rs767223451	633	A>V		No	ClinGen ExAC TOPMed gnomAD
CA389556857 rs1439077139	636	E>K		No	ClinGen gnomAD
rs956941577 CA259549804	637	G>S		No	ClinGen Ensembl
CA7164022 rs760560406	640	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7164021 rs760560406	640	P>R		No	ClinGen ExAC TOPMed gnomAD
rs370296546 CA7164020	640	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA389556916 rs1279602877	641	D>Y		No	ClinGen gnomAD
CA7164024 rs757259755	644	L>F		No	ClinGen ExAC TOPMed gnomAD
rs201398321 CA389556968	644	L>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7164025 rs201398321	644	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA389556984 rs1219162555	645	Y>C		No	ClinGen gnomAD
CA389556988 rs1219162555	645	Y>F		No	ClinGen gnomAD
CA7164026 rs751698567	645	Y>H		No	ClinGen ExAC gnomAD
CA7164027 rs751698567	645	Y>N		No	ClinGen ExAC gnomAD
rs748285391 CA7164029	646	G>D		No	ClinGen ExAC TOPMed gnomAD
rs778096789 CA7164031	648	P>L		No	ClinGen ExAC gnomAD
CA7164030 rs61740767	648	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61740767 CA259549849	648	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1415214907 CA389557069	650	E>G		No	ClinGen gnomAD
CA7164033 rs771441132	650	E>Q		No	ClinGen ExAC gnomAD
CA7164035 rs745417023	651	L>W		No	ClinGen ExAC gnomAD
CA259549893 rs749041023	652	V>M		No	ClinGen Ensembl
CA389557116 rs1260501921	653	I>M		No	ClinGen gnomAD
CA7164038 rs760234223	654	C>F		No	ClinGen ExAC gnomAD
rs775259334 CA7164037	654	C>R		No	ClinGen ExAC TOPMed gnomAD
CA389557129 rs760234223	654	C>S		No	ClinGen ExAC gnomAD
rs377514735 CA7164039	654	C>W		No	ClinGen ESP ExAC gnomAD
CA389557127 rs760234223	654	C>Y		No	ClinGen ExAC gnomAD
rs761638597 CA7164041	655	A>G		No	ClinGen ExAC gnomAD
rs776576456 CA7164040	655	A>P		No	ClinGen ExAC gnomAD
CA389557138 rs776576456	655	A>T		No	ClinGen ExAC gnomAD
rs1187082847 CA389557147	656	A>T		No	ClinGen gnomAD
CA389557194 rs1390908688	659	G>E		No	ClinGen TOPMed
CA7164043 rs765284464	660	F>C		No	ClinGen ExAC gnomAD
rs998971529 CA259549906	661	F>C		No	ClinGen TOPMed
CA389557248 rs1265638625	663	V>L		No	ClinGen gnomAD
CA7164045 rs755123186	664	L>H		No	ClinGen ExAC gnomAD
CA259549938 rs75842899	665	F>L		No	ClinGen Ensembl
rs199650703 CA7164050	666	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA389557308 rs756285984	667	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1566678659 CA389557317	667	L>S		No	ClinGen Ensembl
rs1566678779 CA613563877	668	W>*		No	ClinGen Ensembl
rs1566678747 CA389557326	668	W>G		No	ClinGen Ensembl
rs1161988054 CA389557363	670	S>N		No	ClinGen gnomAD
COSM297750 CA7164053 rs185291670 COSM3419796	673	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs185291670 CA7164052	673	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389558231 rs1172808739	674	V>I		No	ClinGen gnomAD
CA7164069 rs528362138	675	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA7164071 rs754026679	677	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7164070 rs764331151	677	R>W		No	ClinGen ExAC TOPMed gnomAD
CA389558308 rs1206915700	679	Y>H		No	ClinGen TOPMed
rs143110568 CA7164073	680	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs757665840 CA7164072	680	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1198250178 CA389558381	682	R>*	Variant assessed as Somatic; 9.291e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7164097 rs750762725	682	R>Q		No	ClinGen ExAC gnomAD
CA259551321 rs867905550	683	E>L		No	ClinGen Ensembl
rs1487430900 CA389558397	684	K>E		No	ClinGen gnomAD
CA7164098 rs758745521	684	K>R		No	ClinGen ExAC gnomAD
CA389558430 rs1458219925	686	L>R		No	ClinGen gnomAD
rs752078931 CA7164100	686	L>V		No	ClinGen ExAC gnomAD
rs754586323 CA7164101	687	A>V		No	ClinGen ExAC gnomAD
CA7164104 rs747878553	688	L>V		No	ClinGen ExAC TOPMed gnomAD
rs749068286 CA7164106	690	L>F		No	ClinGen ExAC gnomAD
CA7164107 rs770726747	690	L>P		No	ClinGen ExAC gnomAD
rs932353978 CA259551351	691	S>F		No	ClinGen TOPMed
rs138671940 CA389558489	693	L>I		No	ClinGen ESP gnomAD
CA389558493 rs1472831745	693	L>P		No	ClinGen TOPMed
rs138671940 CA259551363	693	L>V		No	ClinGen ESP gnomAD
rs1245965032 CA389558503	694	I>T		No	ClinGen gnomAD
CA389558574 rs1221224764	700	L>V		No	ClinGen gnomAD
rs936088497 CA259551367	702	E>V		No	ClinGen TOPMed gnomAD
rs1263482344 CA389558618	704	F>I		No	ClinGen gnomAD
CA7164112 rs768787526	705	S>N		No	ClinGen ExAC
rs776693445 CA7164113	706	L>F		No	ClinGen ExAC TOPMed gnomAD
rs370129642 CA7164114	706	L>R		No	ClinGen ESP ExAC gnomAD
CA7164115 rs369990672	707	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs556297014 CA259551394	710	E>V		No	ClinGen gnomAD
CA7164133 rs760899932	711	Y>C		No	ClinGen ExAC gnomAD
CA389560147 rs1237457055	713	G>S		No	ClinGen gnomAD
rs1305884114 CA389560152	713	G>V		No	ClinGen TOPMed gnomAD
CA7164135 rs773357791	714	Y>C		No	ClinGen ExAC gnomAD
rs533063800 CA7164134	714	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1595144499 CA389560194	717	E>A		No	ClinGen Ensembl
CA7164137 rs766722324	720	L>S		No	ClinGen ExAC
rs1175651539 CA389560265	723	A>D		No	ClinGen gnomAD
CA259561980 rs554609385	724	S>G		No	ClinGen Ensembl
CA389560296 rs1407592399	727	K>R		No	ClinGen gnomAD
CA7164139 rs759922970	729	A>T		No	ClinGen ExAC gnomAD
CA7164141 rs753224655	730	T>R		No	ClinGen ExAC gnomAD
rs1402848396 CA389560360	734	S>R		No	ClinGen gnomAD
rs753499187 CA7164144	735	L>F		No	ClinGen ExAC gnomAD
rs763645570 CA7164143	735	L>S		No	ClinGen ExAC TOPMed gnomAD
rs763645570 CA259562029	735	L>W		No	ClinGen ExAC TOPMed gnomAD
CA7164177 rs772630363	737	A>T		No	ClinGen ExAC gnomAD
CA389560764 rs1159366288	738	T>A		No	ClinGen gnomAD
rs776000548 CA7164178	739	C>Y		No	ClinGen ExAC gnomAD
CA389560786 rs1566774235	741	K>E		No	ClinGen Ensembl
CA7164180 rs769225356	741	K>N		No	ClinGen ExAC gnomAD
CA7164182 rs375487092	743	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs764708874 CA7164183	744	R>K		No	ClinGen ExAC gnomAD
rs750137503 CA7164184	746	N>I		No	ClinGen ExAC TOPMed gnomAD
rs750137503 CA7164185	746	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7164187 rs751384300	751	D>A		No	ClinGen ExAC gnomAD
CA7164186 COSM416693 rs765952244	751	D>N	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs751384300 COSM1202552 CA389560852	751	D>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1412563400 CA389560864	753	I>V		No	ClinGen Ensembl
rs1256377283 CA389560894	757	E>D		No	ClinGen TOPMed
rs567277819 CA259563838	757	E>G		No	ClinGen 1000Genomes
CA389560902 rs1279944911	758	K>N		No	ClinGen gnomAD
rs369726723 CA7164189	761	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1342506368 CA389560940 CA389560941	763	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA389560961 rs1440721947	765	S>C		No	ClinGen gnomAD
rs752546706 CA7164190	768	S>F		No	ClinGen ExAC gnomAD
CA7164191 rs757469583	769	E>V		No	ClinGen ExAC gnomAD
CA7164192 rs536341881	770	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA7164193 rs73277460	770	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA259563883 rs899040045	771	D>E		No	ClinGen Ensembl
rs1319129251 CA389561026	771	D>G		No	ClinGen TOPMed
CA389561407 rs1595182965	774	M>T		No	ClinGen Ensembl
rs139644527 CA7164215	775	A>V	Variant assessed as Somatic; 4.633e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs781410876 CA7164217	779	K>R		No	ClinGen ExAC TOPMed gnomAD
CA7164218 rs141828907	780	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1479581601 CA389561525	781	I>T		No	ClinGen TOPMed
rs1489619222 CA389561576	785	E>K		No	ClinGen gnomAD
rs770302342 CA7164219	786	D>H		No	ClinGen ExAC TOPMed gnomAD
rs770302342 CA7164220	786	D>N		No	ClinGen ExAC TOPMed gnomAD
CA7164221 rs748830490	787	E>D		No	ClinGen ExAC gnomAD
rs770317097 CA7164222	789	K>E		No	ClinGen ExAC gnomAD
rs1289375650 CA389561654	790	S>P		No	ClinGen TOPMed
CA389561666 rs774103157	791	L>F		No	ClinGen ExAC gnomAD
rs774103157 CA7164223	791	L>V		No	ClinGen ExAC gnomAD
CA389561685 rs1182867496	792	K>N		No	ClinGen gnomAD
CA7164243 rs771643822	799	K>E		No	ClinGen ExAC gnomAD
CA389561814 rs1312197416	799	K>T		No	ClinGen TOPMed
COSM1515492 rs142653668 CA7164244	800	M>I	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs150627486 CA7164245 RCV000960590	801	T>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs961606934 CA259565374	801	T>I		No	ClinGen TOPMed gnomAD
CA7164246 rs768545478	803	K>Q		No	ClinGen ExAC
CA7164247 rs776763978	803	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1460725443 CA389561899	804	I>T		No	ClinGen gnomAD
rs761656129 CA7164248	804	I>V		No	ClinGen ExAC gnomAD
rs765159302 CA7164249	805	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1384850838 CA389561918	805	F>L		No	ClinGen TOPMed
rs1409035001 CA389561920	806	Q>K		No	ClinGen gnomAD
CA7164250 rs751607750	807	M>V		No	ClinGen ExAC gnomAD
rs752887105 CA7164254	809	E>A		No	ClinGen ExAC gnomAD
CA7164253 rs767665701	809	E>K		No	ClinGen ExAC gnomAD
CA7164255 rs756519869	810	E>G		No	ClinGen ExAC gnomAD
rs778098733 CA7164256	811	R>G		No	ClinGen ExAC TOPMed gnomAD
rs139980313 CA7164257	811	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1375150677 CA389562024	813	K>E		No	ClinGen gnomAD
rs17855896 CA7164258 VAR_047891	813	K>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA389562028 rs1278210498	813	K>R		No	ClinGen gnomAD
rs1305593643 CA389562058	815	A>G		No	ClinGen gnomAD
CA389562073 rs1261238723	816	I>M		No	ClinGen gnomAD
CA7164260 rs745400298	816	I>T		No	ClinGen ExAC gnomAD
rs751446667 CA7164259	816	I>V		No	ClinGen ExAC gnomAD
CA389562103 rs1176530899	818	D>G		No	ClinGen TOPMed
rs779900273 CA7164262	821	N>S		No	ClinGen ExAC
rs1258398229 CA389562208	824	S>A		No	ClinGen gnomAD
CA389562238 rs1270771836	826	L>F		No	ClinGen TOPMed
CA389562252 rs1481706396	827	Q>E		No	ClinGen gnomAD
rs1028183558 CA259565515	827	Q>R		No	ClinGen Ensembl
CA259565523 rs950811521	829	S>N		No	ClinGen TOPMed gnomAD
rs1289176658 CA389562292	830	Q>E		No	ClinGen TOPMed
CA389562300 rs1249857626	830	Q>R		No	ClinGen TOPMed gnomAD
rs202124210 CA7164265	832	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1469600561 CA389562334	832	Q>H		No	ClinGen gnomAD
rs761615098 CA7164266	832	Q>R		No	ClinGen ExAC gnomAD
CA389540219 rs1274174104	836	E>K		No	ClinGen TOPMed gnomAD
rs1360369200 CA389540245	837	A>S		No	ClinGen TOPMed gnomAD
CA389540299 rs1490214323	840	W>*		No	ClinGen gnomAD
CA7164288 rs773072953	840	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1244376688 CA389540315	841	K>E		No	ClinGen TOPMed gnomAD
CA7164290 rs772207551	843	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA389540371 rs1193212951	844	V>M		No	ClinGen TOPMed
CA7164293 rs764331269	847	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1047469215 CA259518367	848	N>H		No	ClinGen gnomAD
CA7164294 rs776881300	849	K>E		No	ClinGen ExAC gnomAD
rs560126066 CA7164295	849	K>I		No	ClinGen ExAC gnomAD
rs34761053 CA7164296	851	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA259518388 rs1008550992	852	V>I		No	ClinGen Ensembl
rs976905791 CA259518389	853	T>A		No	ClinGen TOPMed
CA259518395 rs921455021	855	E>K		No	ClinGen TOPMed gnomAD
rs932694385 CA259518398	856	D>A		No	ClinGen TOPMed
rs750955523 CA7164297	856	D>N		No	ClinGen ExAC gnomAD
CA7164299 rs758981386	857	S>P		No	ClinGen ExAC TOPMed gnomAD
CA7164298 rs758981386	857	S>T		No	ClinGen ExAC TOPMed gnomAD
CA7164300 rs10162564 VAR_047892 RCV000960591	858	K>E		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7164301 rs754502112	858	K>R		No	ClinGen ExAC TOPMed gnomAD
CA389540626 rs1364634939	859	V>E		No	ClinGen TOPMed
rs35626166 CA7164302	859	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7164303 rs747814024	860	H>N		No	ClinGen ExAC gnomAD
CA389540632 rs747814024	860	H>Y		No	ClinGen ExAC gnomAD
rs1215706543 CA389540653	861	A>T		No	ClinGen gnomAD
rs777622251 CA259518456	863	Q>P		No	ClinGen ExAC
rs777622251 CA7164305	863	Q>R		No	ClinGen ExAC
rs748976500 CA7164306	864	V>F		No	ClinGen ExAC gnomAD
CA389540797 rs1384268352	866	N>D		No	ClinGen gnomAD
rs768697099 CA7164310	867	D>A		No	ClinGen ExAC TOPMed gnomAD
CA7164309 rs747131405	867	D>N		No	ClinGen ExAC gnomAD
rs768697099 CA389540823	867	D>V		No	ClinGen ExAC TOPMed gnomAD
rs776771675 CA7164312	869	E>Q		No	ClinGen ExAC gnomAD
CA259518559 rs960339545	870	S>N		No	ClinGen TOPMed
rs905715563 CA259518566	871	H>L		No	ClinGen TOPMed gnomAD
rs1450229951 CA389541013	872	I>V		No	ClinGen gnomAD
rs1232570202 CA389541620	876	T>S		No	ClinGen TOPMed
CA7164332 rs770080376	877	E>V		No	ClinGen ExAC TOPMed gnomAD
CA7164333 rs773269992	878	R>C		No	ClinGen ExAC gnomAD
CA259521050 rs778696382	878	R>H		No	ClinGen ExAC gnomAD
rs778696382 CA7164334	878	R>L		No	ClinGen ExAC gnomAD
CA389541633 rs1482438154	879	L>M		No	ClinGen gnomAD
CA7164335 rs771401338	882	M>K		No	ClinGen ExAC gnomAD
rs771401338 CA389541658	882	M>R		No	ClinGen ExAC gnomAD
rs1199582625 CA389541656	882	M>V		No	ClinGen gnomAD
CA259521065 rs962547521	884	D>G		No	ClinGen TOPMed gnomAD
CA7164337 rs374408997	886	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389541701 rs1198647062	886	A>T		No	ClinGen gnomAD
CA389541710 rs374408997	886	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1463379569 CA389541714	887	A>T		No	ClinGen gnomAD
CA389541747 rs976296233 CA259521109	888	M>I		No	ClinGen TOPMed
CA259521095 rs767846164	888	M>L		No	ClinGen ExAC TOPMed gnomAD
CA7164338 rs767846164	888	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1304692095 CA389541755	889	L>F		No	ClinGen TOPMed
COSM1202553 rs1429172343 CA389541843	894	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA7164340 rs760062276	896	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1403584708 CA389541892	897	D>G		No	ClinGen gnomAD
rs1390385747 CA389541913	898	N>K		No	ClinGen TOPMed
CA259521165 rs914705491	901	L>I		No	ClinGen TOPMed
rs1595347770 CA389541989	903	M>V		No	ClinGen Ensembl
rs753465957 CA7164343	904	N>K		No	ClinGen ExAC gnomAD
CA7164345 rs778670981	907	S>L		No	ClinGen ExAC TOPMed gnomAD
rs773869746 CA259521208	909	N>S		No	ClinGen Ensembl
CA7164350 rs748292860	911	A>G		No	ClinGen ExAC gnomAD
CA389542276 rs1209171670	912	Y>C		No	ClinGen TOPMed
CA389542541 rs1394378781	914	D>A		No	ClinGen TOPMed
CA389542605 rs867676721	916	P>S		No	ClinGen Ensembl
CA259522502 rs867676721	916	P>T		No	ClinGen Ensembl
CA7164367 rs371959005	918	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1422115473 CA389542694	920	A>V		No	ClinGen gnomAD
CA7164368 rs751433875	925	I>S		No	ClinGen ExAC TOPMed gnomAD
CA389542805 rs751433875	925	I>T		No	ClinGen ExAC TOPMed gnomAD
CA389542794 rs1455832317	925	I>V		No	ClinGen TOPMed
CA389542825 rs1158847896	926	H>R		No	ClinGen TOPMed
rs1363936457 CA389543354	931	N>H		No	ClinGen gnomAD
rs1287632923 CA389543375	932	A>S		No	ClinGen gnomAD
CA389543395 rs1346004643	933	S>C		No	ClinGen gnomAD
CA389543410 rs1456949597	934	L>F		No	ClinGen gnomAD
rs1260974866 CA389543438	936	T>A		No	ClinGen gnomAD
rs767505271 CA7164389	937	L>S		No	ClinGen ExAC gnomAD
rs757379558 CA389543523	941	R>I		No	ClinGen ExAC TOPMed gnomAD
rs757379558 CA7164391	941	R>K		No	ClinGen ExAC TOPMed gnomAD
rs867660583 CA259523292	942	N>K		No	ClinGen Ensembl
rs548955208 CA7164392	942	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1373612221 CA389543559	943	Q>P		No	ClinGen TOPMed
CA259523293 rs912300561	945	Y>H		No	ClinGen TOPMed
rs758864132 CA7164394	946	I>V		No	ClinGen ExAC TOPMed gnomAD
CA389543633 rs1328567842	947	Q>H		No	ClinGen TOPMed
rs780281854 CA7164395	948	L>F		No	ClinGen ExAC gnomAD
CA389543657 rs1458895945	949	S>P		No	ClinGen TOPMed
rs747336694 CA7164396	950	E>K		No	ClinGen ExAC gnomAD
CA7164397 rs769171309	952	D>H		No	ClinGen ExAC gnomAD
CA389543747 rs1365688229	955	K>T		No	ClinGen gnomAD
rs1366609755 CA389543770	957	E>A		No	ClinGen gnomAD
CA389543774 rs1006708940	957	E>D		No	ClinGen TOPMed gnomAD
CA7164398 rs777080282	957	E>K		No	ClinGen ExAC gnomAD
CA389543787 rs1409057761	958	L>P		No	ClinGen TOPMed
rs747699826 CA7164399	959	T>R		No	ClinGen ExAC TOPMed gnomAD
CA389543816 rs1309426220	960	E>*		No	ClinGen TOPMed gnomAD
rs1464298394 CA389545571	960	E>D		No	ClinGen TOPMed
rs1309426220 CA389543806	960	E>K		No	ClinGen TOPMed gnomAD
CA7164425 rs774017356	961	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1401180514 CA389545578	961	H>Y		No	ClinGen TOPMed gnomAD
rs1434180085 CA389545618	962	I>T		No	ClinGen gnomAD
rs1386157269 CA389545606	962	I>V		No	ClinGen gnomAD
CA7164426 rs759452149	964	N>S		No	ClinGen ExAC
rs1345096817 CA389545658	965	L>F		No	ClinGen TOPMed
CA7164429 rs760692720	968	E>D		No	ClinGen ExAC gnomAD
rs1950952 CA389545749	968	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7164428 VAR_047893 rs1950952	968	E>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA389545774 rs1479856498	969	Q>P		No	ClinGen TOPMed gnomAD
CA7164430 rs764061877	970	A>E		No	ClinGen ExAC
COSM433063 CA7164431 rs750487896	974	S>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs763045744 CA7164432	975	E>D		No	ClinGen ExAC gnomAD
CA389545923 rs1318716680	976	N>D		No	ClinGen TOPMed
rs1416435309 CA389545965	977	T>I		No	ClinGen TOPMed
CA7164434 rs751787122	978	H>R		No	ClinGen ExAC TOPMed gnomAD
CA7164435 rs536986370	980	E>G		No	ClinGen 1000Genomes ExAC
rs1236334690 CA389546087	981	N>K		No	ClinGen gnomAD
rs1036571652 CA259527448	981	N>S		No	ClinGen gnomAD
CA7164436 rs781537099	982	E>G		No	ClinGen ExAC TOPMed gnomAD
VAR_047894 rs17109109 CA7164437	983	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs756627973 CA7164438	984	Q>K		No	ClinGen ExAC gnomAD
rs778295792 CA7164439	985	K>T		No	ClinGen ExAC gnomAD
CA7164440 rs748782014	987	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA7164441 rs369742552	987	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1419945458 CA389546323	989	K>N		No	ClinGen gnomAD
rs1566856905 CA389546356	990	L>R		No	ClinGen Ensembl
rs1595425863 CA389546393	992	V>I		No	ClinGen Ensembl
CA7164443 rs778485778	993	M>I		No	ClinGen ExAC gnomAD
rs1332496421 CA389546414	993	M>L		No	ClinGen gnomAD
rs1443111527 CA389546539	997	Y>H		No	ClinGen gnomAD
CA389546613 rs1349114354	999	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1030400068 CA259527538	1002	M>T		No	ClinGen TOPMed gnomAD
rs771783761 CA7164445	1002	M>V		No	ClinGen ExAC gnomAD
CA7164446 rs775434454	1003	K>*		No	ClinGen ExAC gnomAD
rs775434454 CA389546722	1003	K>E		No	ClinGen ExAC gnomAD
rs571860721 CA259532261	1012	E>G		No	ClinGen 1000Genomes
CA259532264 rs562467439	1013	N>H		No	ClinGen Ensembl
CA389549102 rs1269454319	1013	N>K		No	ClinGen gnomAD
CA7164474 rs201071149	1014	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs748112947 CA7164473	1014	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs748112947 CA389549116	1014	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs547480162 CA389549144	1015	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547480162 CA7164476	1015	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs78488913 CA7164475	1015	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7164477 rs202207696	1020	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389549252 rs1174273501	1020	E>Q		No	ClinGen TOPMed
CA259532306 rs998470975	1023	S>C		No	ClinGen TOPMed gnomAD
CA389549342 rs998470975	1023	S>F		No	ClinGen TOPMed gnomAD
CA389549334 rs1429237015	1023	S>P		No	ClinGen gnomAD
CA7164478 rs775661674	1024	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs1474198451 CA389549388	1025	V>I		No	ClinGen TOPMed
rs1238865669 CA389549480	1029	I>F		No	ClinGen TOPMed
rs1385597226 CA389549505	1030	S>G		No	ClinGen gnomAD
CA389549509 rs1323261592	1030	S>N		No	ClinGen gnomAD
rs1327411344 CA389549513	1030	S>R		No	ClinGen gnomAD
CA7164480 rs536786922	1031	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754080800 CA7164481	1032	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA389549573 rs1340837068	1033	T>A		No	ClinGen gnomAD
CA389549617 rs774358057 COSM469955	1035	E>K	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs774358057 CA259532333	1035	E>Q		No	ClinGen gnomAD
CA389549642 rs1266714589	1036	L>P		No	ClinGen TOPMed gnomAD
rs757792022 CA7164482	1037	E>G		No	ClinGen ExAC gnomAD
CA389549653 rs1354092746	1037	E>K		No	ClinGen gnomAD
rs200497710 CA7164483	1038	T>A		No	ClinGen ExAC TOPMed gnomAD
rs898706495 CA259532362	1039	Y>C		No	ClinGen TOPMed
CA7164502 rs777071768	1042	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1595501017 CA389550601	1043	A>D		No	ClinGen Ensembl
CA7164503 rs534901644	1044	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389550659 rs1388411562	1045	D>V		No	ClinGen TOPMed gnomAD
rs1595501154 CA389550673	1046	L>I		No	ClinGen Ensembl
rs968152038 CA259533616	1049	E>Q		No	ClinGen TOPMed gnomAD
CA259533630 rs867858497	1051	E>G		No	ClinGen Ensembl
rs750942588 CA7164506	1052	R>G		No	ClinGen ExAC gnomAD
CA389550821 rs762608614	1052	R>K		No	ClinGen ExAC TOPMed gnomAD
rs762608614 CA7164507	1052	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1352183434 CA389550843	1053	T>A		No	ClinGen gnomAD
rs1595501563 CA389550851	1053	T>N		No	ClinGen Ensembl
rs118177774 CA7164508	1054	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389550864 rs1226528259	1054	I>V		No	ClinGen gnomAD
CA389550895 rs145486357	1055	H>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7164509 rs145486357	1055	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1258051960 CA389550926	1057	Y>C		No	ClinGen gnomAD
rs1211043908 CA389550922	1057	Y>H		No	ClinGen gnomAD
rs536600046 CA7164510	1058	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536600046 CA389550935	1058	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1595501902 CA389550956	1060	Q>K		No	ClinGen Ensembl
CA259535094 rs1005192235	1063	S>C		No	ClinGen gnomAD
rs1158407109 CA389551149	1064	H>R		No	ClinGen gnomAD
CA389551180 rs1418044919	1066	K>R		No	ClinGen TOPMed
CA7164565 rs752272838	1068	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1473365349 CA389551214	1069	H>Y		No	ClinGen TOPMed
CA7164566 rs755963772	1070	D>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs138315305 CA259535123	1070	D>N		No	ClinGen ESP gnomAD
rs1350336711 CA389551266	1072	W>L		No	ClinGen gnomAD
rs548962835 CA7164589	1076	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7164590 rs149599391	1076	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7164588 rs548962835	1076	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7164591 rs753659798	1081	N>K		No	ClinGen ExAC gnomAD
CA7164592 rs757014088	1083	N>D		No	ClinGen ExAC gnomAD
rs1209685192 CA389551926	1083	N>S		No	ClinGen TOPMed gnomAD
CA7164593 rs144210779	1086	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7164594 rs377173111	1086	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1187565490 CA389551980	1087	K>*		No	ClinGen gnomAD
CA259537449 rs749470348	1089	N>S		No	ClinGen TOPMed gnomAD
rs755149963 CA7164595	1091	H>R		No	ClinGen ExAC gnomAD
rs1473518716 CA389552035	1091	H>Y		No	ClinGen gnomAD
rs781138220 CA7164596	1092	N>S		No	ClinGen ExAC gnomAD
CA389552083 rs1299701740	1094	Q>P		No	ClinGen TOPMed
CA389552085 rs1299701740	1094	Q>R		No	ClinGen TOPMed
rs1341432207 CA389552095	1095	K>E		No	ClinGen TOPMed
CA7164597 rs748181954	1095	K>R		No	ClinGen ExAC gnomAD
rs779156379 CA7164621	1097	T>S		No	ClinGen ExAC gnomAD
CA259538751 rs1007022937	1099	T>I		No	ClinGen TOPMed gnomAD
CA389552962 rs1007022937	1099	T>R		No	ClinGen TOPMed gnomAD
CA259538761 rs1039901767	1101	L>P		No	ClinGen TOPMed
CA7164622 rs746193258	1103	F>C		No	ClinGen ExAC gnomAD
CA389553072 rs746193258	1103	F>S		No	ClinGen ExAC gnomAD
rs1437174386 CA389553170	1106	L>I		No	ClinGen TOPMed gnomAD
CA389553191 rs1595556492	1106	L>S		No	ClinGen Ensembl
rs1437174386 CA389553173	1106	L>V		No	ClinGen TOPMed gnomAD
CA389553212 rs1199221672	1107	E>K		No	ClinGen gnomAD
rs982933427 CA259538782	1110	P>A		No	ClinGen TOPMed gnomAD
rs982933427 CA389553343	1110	P>S		No	ClinGen TOPMed gnomAD
rs370395581 CA7164625	1112	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7164626 rs768141006	1113	L>R		No	ClinGen ExAC gnomAD
CA7164628 rs368369825	1116	P>A		No	ClinGen ESP ExAC
rs995586425 CA259538797	1117	N>H		No	ClinGen TOPMed
CA259538805 rs1025750113	1117	N>S		No	ClinGen TOPMed gnomAD
rs769431675 CA7164629	1118	T>I		No	ClinGen ExAC gnomAD
CA7164630 rs571579404	1121	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs747646747 CA7164653	1123	E>A		No	ClinGen ExAC gnomAD
rs769364726 CA7164654	1123	E>D		No	ClinGen ExAC TOPMed gnomAD
CA389554468 rs1289092026	1124	H>R		No	ClinGen gnomAD
rs762706345 CA7164656	1126	P>S		No	ClinGen ExAC gnomAD
CA7164657 rs36060072	1129	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7164658 rs36060072	1129	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7164659 rs759554403	1131	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA389554590 rs1190781623	1134	W>C		No	ClinGen TOPMed gnomAD
CA389554597 rs1273642311	1135	P>A		No	ClinGen gnomAD
rs765423280 CA7164663	1137	S>P		No	ClinGen ExAC gnomAD
CA389554652 rs1265232365	1139	T>I		No	ClinGen TOPMed
CA7164664 rs750643732	1140	R>G		No	ClinGen ExAC gnomAD
CA7164667 rs374184562	1143	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7164666 rs758756263	1143	L>V		No	ClinGen ExAC gnomAD
rs267603988 CA259540093	1145	P>L		No	ClinGen TOPMed gnomAD
rs755503232 CA7164670	1147	T>A		No	ClinGen ExAC TOPMed gnomAD
rs755503232 CA7164669	1147	T>P		No	ClinGen ExAC TOPMed gnomAD
CA259540118 rs755628585 CA389554788	1150	E>D		No	ClinGen ExAC TOPMed gnomAD
rs140218659 CA259540111	1150	E>G		No	ClinGen gnomAD
rs747651831 CA7164671	1150	E>Q		No	ClinGen ExAC gnomAD
CA7164673 rs777351502	1151	G>V		No	ClinGen ExAC gnomAD
CA389554805 rs1210792009	1152	P>S		No	ClinGen TOPMed gnomAD
rs1259240326 CA389554814	1153	L>F		No	ClinGen gnomAD
CA7164674 rs748969318	1154	R>G		No	ClinGen ExAC gnomAD
CA7164675 rs145548637	1155	L>F		No	ClinGen ESP ExAC gnomAD
CA389554846 rs1258384794	1156	S>P		No	ClinGen gnomAD
rs772174140 CA7164678	1157	P>R		No	ClinGen ExAC gnomAD
rs567751705 CA7164679	1159	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7164680 rs537064251	1161	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs537064251 CA389554906	1161	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1055026433 CA259540175	1161	G>R		No	ClinGen Ensembl
CA7164682 rs773099459	1162	G>R		No	ClinGen ExAC gnomAD
rs1045791493 CA259540248	1164	G>A		No	ClinGen Ensembl
CA7164684 rs766537996	1164	G>R		No	ClinGen ExAC gnomAD
CA7164713 rs761263082	1166	G>V		No	ClinGen ExAC gnomAD
CA259544734 rs946076178	1167	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1250688197 CA389555556	1168	R>*		No	ClinGen TOPMed gnomAD
rs764463597 COSM3814796 COSM3814795 CA7164714	1168	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1188592766 CA389555568	1170	P>S		No	ClinGen gnomAD
CA259544747 rs981465030	1171	G>E		No	ClinGen Ensembl
CA389555577 rs1169703931	1172	N>H		No	ClinGen gnomAD
CA389555581 rs1193806698	1172	N>S		No	ClinGen TOPMed gnomAD
rs756802065 CA7164716	1174	L>P		No	ClinGen ExAC TOPMed gnomAD
CA7164718 rs750092887	1176	H>R		No	ClinGen ExAC gnomAD
rs545600752 CA7164719	1177	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs545600752 CA7164720	1177	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746732129 CA7164721	1178	I>M		No	ClinGen ExAC gnomAD
rs1298359929 CA389555656	1180	N>D		No	ClinGen gnomAD
CA259544799 rs1055606576	1184	E>D		No	ClinGen Ensembl
CA259544814 rs368983768	1186	S>N		No	ClinGen ESP TOPMed gnomAD
CA7164722 rs768669199	1186	S>R		No	ClinGen ExAC gnomAD
CA7164723 rs780960571	1187	C>W		No	ClinGen ExAC gnomAD
CA7164725 rs199546926	1188	D>G		No	ClinGen ExAC TOPMed gnomAD
rs371641361 CA7164724	1188	D>Y		No	ClinGen ESP ExAC gnomAD
rs1467710620 CA389555803	1189	R>K		No	ClinGen gnomAD
rs774624698 CA7164726	1189	R>S		No	ClinGen ExAC gnomAD
CA7164731 rs147309266	1192	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389555839 rs147309266	1192	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754381605 CA7164732	1193	P>L		No	ClinGen ExAC gnomAD
CA389555847 rs1244691860	1193	P>S		No	ClinGen TOPMed
CA389555845 rs1244691860	1193	P>T		No	ClinGen TOPMed
CA389555863 rs1162482424	1195	R>S		No	ClinGen gnomAD
rs1392217466 CA389555865	1196	A>T		No	ClinGen TOPMed
rs1306279633 CA389555887	1199	D>G		No	ClinGen TOPMed
CA7164735 rs749892773	1200	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1366270632 CA389555894	1200	T>S		No	ClinGen TOPMed
rs779532879 CA7164737	1205	P>L		No	ClinGen ExAC gnomAD
rs758092328 CA7164736 COSM325091	1205	P>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA389555938 rs923356072	1208	D>H		No	ClinGen TOPMed gnomAD
rs923356072 CA259544870	1208	D>N		No	ClinGen TOPMed gnomAD
CA389555939 COSM3983250 COSM3983249 rs923356072	1208	D>Y	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA7164740 rs781251405	1209	Q>R		No	ClinGen ExAC gnomAD
CA7164741 rs748074575	1211	R>C		No	ClinGen ExAC TOPMed gnomAD
CA259544889 rs1050857079	1211	R>H		No	ClinGen TOPMed gnomAD
CA389555963 rs1050857079	1211	R>L		No	ClinGen TOPMed gnomAD
rs769655210 CA7164743	1214	M>T		No	ClinGen ExAC gnomAD
rs866345588 CA259544897	1216	P>L		No	ClinGen TOPMed
rs866345588 CA389556000	1216	P>R		No	ClinGen TOPMed
CA7164745 COSM552944 rs149036910	1217	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs144877390 CA7164744	1217	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7164765 rs780388341	1220	Q>*		No	ClinGen ExAC gnomAD
rs768863558 CA7164767	1223	P>S		No	ClinGen ExAC gnomAD
rs1402250938 CA389560419	1225	S>*		No	ClinGen TOPMed
CA7164768 rs777155163	1225	S>A		No	ClinGen ExAC gnomAD
rs748484013 CA7164769	1226	A>D		No	ClinGen ExAC TOPMed gnomAD
CA259568327 rs865818023	1228	P>S		No	ClinGen Ensembl
CA389560482 rs1166307409	1231	R>K		No	ClinGen TOPMed
rs62000693 CA259568345	1231	R>S		No	ClinGen Ensembl
rs1279003304 CA389560505	1234	R>T		No	ClinGen gnomAD
rs767110179 CA7164776	1235	F>C		No	ClinGen ExAC TOPMed gnomAD
rs759127670 CA7164775	1235	F>I		No	ClinGen ExAC gnomAD
rs1437081722 CA389560518	1236	C>Y		No	ClinGen gnomAD
CA7164777 rs752523418	1238	N>D		No	ClinGen ExAC TOPMed gnomAD
rs755875816 CA7164778	1238	N>I		No	ClinGen ExAC TOPMed
CA389560541 rs1253155735	1240	G>S		No	ClinGen TOPMed
rs1247449031 CA389560546	1240	G>V		No	ClinGen TOPMed gnomAD
CA7164779 rs375945415	1241	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA259568369 rs375945415	1241	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7164780 rs753711067	1245	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7164781 rs376468556	1246	A>G		No	ClinGen ESP ExAC gnomAD
CA7164782 rs780008006	1247	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA7164783 rs747060686	1252	N>D		No	ClinGen ExAC TOPMed gnomAD
CA7164784 rs755280169	1252	N>I		No	ClinGen ExAC gnomAD
CA389560618 rs755280169	1252	N>S		No	ClinGen ExAC gnomAD
CA7164785 rs781534024	1253	M>T		No	ClinGen ExAC gnomAD
CA389560634 rs1302030214	1254	P>L		No	ClinGen TOPMed gnomAD
CA389560631 rs1438304291	1254	P>S		No	ClinGen gnomAD
CA7164787 rs748571981	1255	S>A		No	ClinGen ExAC TOPMed gnomAD
CA7164786 rs748571981	1255	S>P		No	ClinGen ExAC TOPMed gnomAD
rs773923280 CA7164788	1259	M>I		No	ClinGen ExAC gnomAD
rs1229509310 CA389560665	1259	M>R		No	ClinGen gnomAD
rs1567013527 CA389560671	1260	D>H		No	ClinGen Ensembl
rs1001811426 CA259569638	1261	G>R		No	ClinGen TOPMed gnomAD
rs771561673 CA7164812	1261	G>V		No	ClinGen ExAC gnomAD
rs902848085 CA259569642	1262	S>L		No	ClinGen gnomAD
CA7164814 CA389561340 rs760330812	1263	M>I		No	ClinGen ExAC gnomAD
CA7164813 rs181659079	1263	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1567020547 CA389561362	1265	S>L		No	ClinGen Ensembl
rs760415048 CA259569655	1266	E>D		No	ClinGen Ensembl
rs768246924 CA7164815	1267	M>V		No	ClinGen ExAC gnomAD
rs1247873160 CA389561406	1268	E>A		No	ClinGen TOPMed
rs375455137 CA7164816	1268	E>D		No	ClinGen ESP ExAC gnomAD
rs761637188 CA7164817	1269	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA389561440 rs1420479989	1270	S>C		No	ClinGen gnomAD
CA389561473 rs1156544936	1271	R>S		No	ClinGen gnomAD
rs765136029 CA7164818	1273	D>G		No	ClinGen ExAC gnomAD
CA389561520 rs765136029	1273	D>V		No	ClinGen ExAC gnomAD
rs1567020868 CA389561532	1274	T>A		No	ClinGen Ensembl
CA389561559 rs1434864022	1275	K>R		No	ClinGen gnomAD
rs750361090 CA7164819	1276	D>V		No	ClinGen ExAC gnomAD
rs759757680 CA7164820	1277	D>E		No	ClinGen ExAC TOPMed gnomAD
CA389561642 rs1447959469	1279	G>R		No	ClinGen gnomAD
COSM955695 rs999158777 CA259570313	1283	V>M	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA7164860 rs765644209	1284	P>L		No	ClinGen ExAC gnomAD
rs959857438 CA259570322	1284	P>S		No	ClinGen TOPMed gnomAD
COSM1707292 CA389562017 rs1443457835	1287	S>F	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA7164862 rs758932734	1288	L>F		No	ClinGen ExAC gnomAD
CA389562036 rs1410981625	1288	L>P		No	ClinGen TOPMed
CA389562026 rs758932734	1288	L>V		No	ClinGen ExAC gnomAD
rs1250568885 CA389562043	1289	P>A		No	ClinGen TOPMed gnomAD
rs773128481 CA7164863	1289	P>L		No	ClinGen ExAC TOPMed gnomAD
rs773128481 CA259570342	1289	P>R		No	ClinGen ExAC TOPMed gnomAD
CA389562070 rs1186602707	1290	A>D		No	ClinGen gnomAD
rs371687130 CA259570350	1290	A>P		No	ClinGen ESP
rs1421484930 CA389562083	1291	E>A		No	ClinGen gnomAD
CA7164864 rs746569910	1292	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7164865 rs754497058	1294	A>T		No	ClinGen ExAC TOPMed gnomAD
rs780774308 CA7164866	1294	A>V		No	ClinGen ExAC gnomAD
CA7164868 rs769272934	1301	P>H		No	ClinGen ExAC gnomAD
rs747842171 CA7164867	1301	P>S		No	ClinGen ExAC gnomAD
CA389562314 rs1414362304	1302	P>A		No	ClinGen TOPMed
rs1014007578 CA259570379	1303	P>S		No	ClinGen TOPMed gnomAD
rs749054330 CA7164870	1305	A>D		No	ClinGen ExAC gnomAD
rs1335276690 CA389562362	1305	A>S		No	ClinGen TOPMed gnomAD
CA389562370 rs1488714322	1306	P>A		No	ClinGen TOPMed
rs1140952 CA389562384	1307	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760727888 CA7164873	1307	I>M		No	ClinGen ExAC gnomAD
rs1140952 CA7164872 VAR_047895	1307	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7164874 rs764234284	1308	R>G		No	ClinGen ExAC gnomAD
CA7164875 rs776512923	1308	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1330693299 CA389562399	1308	R>S		No	ClinGen TOPMed
rs145443120 CA7164876	1309	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA389562432 rs1227196891	1310	P>A		No	ClinGen TOPMed
rs758738562 CA7164879	1312	F>L		No	ClinGen ExAC TOPMed gnomAD
CA259570444 rs991489828	1312	F>S		No	ClinGen TOPMed
CA7164880 rs766928378	1316	A>T		No	ClinGen ExAC TOPMed gnomAD
CA259570493 rs556635641	1318	G>D		No	ClinGen 1000Genomes TOPMed gnomAD
rs556635641 CA389562595	1318	G>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA389562615 rs1162544093	1319	P>L		No	ClinGen gnomAD
CA7164883 rs376423122	1320	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs747563924 CA7164884	1321	L>M		No	ClinGen ExAC gnomAD
CA7164885 rs61742363	1323	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7164886 rs777539174	1323	R>I		No	ClinGen ExAC gnomAD
CA7164887 rs749147447	1323	R>S		No	ClinGen ExAC
CA7164888 rs1804860	1325	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7164889 rs779064850	1326	P>S	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1595903206 CA389562756	1327	F>S		No	ClinGen Ensembl
CA7164892 rs771852200	1328	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7164891 rs745827386	1328	P>S		No	ClinGen ExAC gnomAD
rs140966971 CA259570576	1329	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200246914 CA7164896	1329	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs200246914 CA259570583	1329	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs200246914 CA7164895	1329	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7164894 rs140966971	1329	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7164893 rs140966971	1329	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA259570602 rs868101227	1330	P>S		No	ClinGen gnomAD
rs766734159 CA389563761	1331	P>A		No	ClinGen ExAC gnomAD
rs751864446 CA7164899	1331	P>L		No	ClinGen ExAC gnomAD
rs751864446 CA389563769	1331	P>R		No	ClinGen ExAC gnomAD
rs766734159 CA7164898	1331	P>S		No	ClinGen ExAC gnomAD
rs549794299 CA259570614	1334	A>G		No	ClinGen Ensembl
rs756757586 CA389563812	1334	A>S		No	ClinGen ExAC gnomAD
rs756757586 CA7164902	1334	A>T		No	ClinGen ExAC gnomAD
CA7164903 rs369013390	1335	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389563870 rs1410251627	1336	F>L		No	ClinGen gnomAD
rs777629297 CA7164904	1337	G>E		No	ClinGen ExAC gnomAD
CA389563920 rs1158141734	1340	R>G		No	ClinGen gnomAD
CA7164905 rs202143576	1340	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202143576 CA7164906	1340	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778868998 CA7164907	1341	D>G		No	ClinGen ExAC gnomAD
CA7164908 rs745606362	1342	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7164909 rs772083879	1343	F>S		No	ClinGen ExAC gnomAD
rs541324876 CA7164911	1345	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs779831913 CA7164910	1345	P>T		No	ClinGen ExAC TOPMed gnomAD
CA7164912 VAR_047896 CA7164913 rs1060878	1346	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP
rs1060878 CA389564029	1346	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA259570655 rs866204560	1347	D>N		No	ClinGen Ensembl
CA389564112 rs1321513111	1350	G>D		No	ClinGen TOPMed
CA7164916 rs371205837	1351	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1595904333 CA389564129	1351	P>S		No	ClinGen Ensembl
rs1208685225 CA389564144	1352	P>S		No	ClinGen TOPMed gnomAD
rs1053452266 CA259570672	1353	P>H		No	ClinGen gnomAD
rs759990866 CA7164917	1354	A>V		No	ClinGen ExAC gnomAD
CA7164918 rs767872024	1355	P>L		No	ClinGen ExAC gnomAD
rs1402976869 CA389564503	1359	R>K		No	ClinGen TOPMed
rs147469080 CA7164945	1362	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs903510681 CA259571409	1363	P>L		No	ClinGen Ensembl
CA7164948 rs761583190	1363	P>S		No	ClinGen ExAC TOPMed gnomAD
rs761583190 CA7164947	1363	P>T		No	ClinGen ExAC TOPMed gnomAD
CA7164950 rs749908295	1364	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7164949 rs749908295	1364	P>R		No	ClinGen ExAC TOPMed gnomAD
CA7164951 rs766214703	1365	R>G		No	ClinGen ExAC gnomAD
CA259571429 rs778794782	1365	R>T		No	ClinGen TOPMed
CA7164953 rs754736260	1366	G>A		No	ClinGen ExAC TOPMed gnomAD
CA389564632 rs754736260	1366	G>D		No	ClinGen ExAC TOPMed gnomAD
rs751564209 CA7164952	1366	G>S		No	ClinGen ExAC gnomAD
rs749460906 CA7164955	1368	P>L		No	ClinGen ExAC gnomAD
rs1217978992 CA389564665	1368	P>S		No	ClinGen TOPMed
CA389564690 rs1273974441	1369	P>L		No	ClinGen TOPMed gnomAD
CA389564708 rs1419877035	1370	Y>*		No	ClinGen gnomAD
CA7164956 rs757481451	1370	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs778982549 CA7164957	1370	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA7164958 rs193112987	1372	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772247441 CA7164960	1373	P>L		No	ClinGen ExAC
rs1261459086 CA389564780	1374	R>S		No	ClinGen gnomAD
CA389564786 rs1477735164	1375	P>T		No	ClinGen gnomAD
CA7164962 rs144102688	1376	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA389564828 rs769095665	1377	F>C		No	ClinGen ExAC TOPMed gnomAD
rs950570324 CA259571474	1377	F>L		No	ClinGen TOPMed gnomAD
CA7164963 rs769095665	1377	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA7164964 rs777151026	1378	F>S		No	ClinGen ExAC
CA259571497 rs1140959	1380	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA7164966 rs1140959	1380	P>R		No	ClinGen ExAC TOPMed gnomAD
CA7164967 rs772977286	1381	P>S		No	ClinGen ExAC gnomAD
rs772977286 CA7164968	1381	P>T		No	ClinGen ExAC gnomAD
CA389564917 rs1383840742	1382	P>R		No	ClinGen gnomAD
CA7164970 rs751457445	1383	H>P		No	ClinGen ExAC gnomAD
rs765953334 CA7164969	1383	H>Y		No	ClinGen ExAC gnomAD
CA259571511 rs1034734873	1386	G>S		No	ClinGen TOPMed gnomAD
rs960463482 CA259571518	1387	R>I		No	ClinGen TOPMed gnomAD
rs960463482 CA389564997	1387	R>K		No	ClinGen TOPMed gnomAD
rs767240835 CA7164972	1391	P>L		No	ClinGen ExAC gnomAD
rs373626632 CA7164971	1391	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA389565082 rs1207400745	1392	S>P		No	ClinGen gnomAD
rs756001054 CA7164974	1394	L>F		No	ClinGen ExAC gnomAD
CA7164975 rs778986326	1395	I>F		No	ClinGen ExAC gnomAD
CA7164976 rs750702918	1396	P>A		No	ClinGen ExAC gnomAD
CA259571549 rs892025318	1397	P>L		No	ClinGen TOPMed gnomAD
CA259571558 rs916237578	1399	N>D		No	ClinGen TOPMed gnomAD
CA7164977 rs561417583	1399	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389565236 rs1454834244	1401	P>S		No	ClinGen gnomAD
CA7164979 rs747464213	1403	T>I		No	ClinGen ExAC gnomAD
CA7164980 rs769293592	1406	P>T		No	ClinGen ExAC gnomAD
rs1486579206 CA389565354	1408	P>A		No	ClinGen TOPMed
CA7164981 rs781781904	1409	Q>H		No	ClinGen ExAC gnomAD
rs530382045 CA7164982	1410	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
rs147286466 CA259571576	1410	Q>P		No	ClinGen ESP

1 associated diseases with Q96PC5

Without disease ID

3 regional properties for Q96PC5

Type	Name	Position	InterPro Accession
domain	CTP synthase, N-terminal	2 - 272	IPR017456
domain	Glutamine amidotransferase	310 - 543	IPR017926
domain	CTP synthase GATase domain	299 - 544	IPR033828

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane ; Single-pass membrane protein	Localizes to endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum exit site	An endoplasmic reticulum part at which COPII-coated vesicles are produced.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

2 GO annotations of molecular function

Name	Definition
cargo receptor activity	Binding specifically to a substance (cargo) to deliver it to a transport vesicle. Cargo receptors span a membrane (either the plasma membrane or a vesicle membrane), binding simultaneously to cargo molecules and coat adaptors, to efficiently recruit soluble proteins to nascent vesicles.
enzyme activator activity	Binds to and increases the activity of an enzyme.

6 GO annotations of biological process

Name	Definition
endoplasmic reticulum to Golgi vesicle-mediated transport	The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi.
lipoprotein transport	The directed movement of any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
protein exit from endoplasmic reticulum	The directed movement of proteins from the endoplasmic reticulum.
protein localization to endoplasmic reticulum exit site	A process in which a protein is transported to, or maintained in, a location at an endoplasmic reticulum exit site.
protein secretion	The controlled release of proteins from a cell.
vesicle cargo loading	The formation of a macromolecular complex between the coat proteins and proteins and/or lipoproteins that are going to be transported by a vesicle.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q96RT6	CTAGE1	cTAGE family member 2	Homo sapiens (Human)	PR

10	20	30	40	50	60
MAKFGVHRIL	LLAISLTKCL	ESTKLLADLK	KCGDLECEAL	INRVSAMRDY	RGPDCRYLNF
70	80	90	100	110	120
TKGEEISVYV	KLAGEREDLW	AGSKGKEFGY	FPRDAVQIEE	VFISEEIQMS	TKESDFLCLL
130	140	150	160	170	180
GVSYTFDNED	SELNGDYGEN	IYPYEEDKDE	KSSIYESDFQ	IEPGFYATYE	STLFEDQVPA
190	200	210	220	230	240
LEAPEDIGST	SESKDWEEVV	VESMEQDRIP	EVHVPPSSAV	SGVKEWFGLG	GEQAEEKAFE
250	260	270	280	290	300
SVIEPVQESS	FRSRKIAVED	ENDLEELNNG	EPQTEHQQES	ESEIDSVPKT	QSELASESEH
310	320	330	340	350	360
IPKPQSTGWF	GGGFTSYLGF	GDEDTGLELI	AEESNPPLQD	FPNSISSDKE	ATVPCTEILT
370	380	390	400	410	420
EKKDTITNDS	LSLKPSWFDF	GFAILGFAYA	KEDKIMLDDR	KNEEDGGADE	HEHPLTSELD
430	440	450	460	470	480
PEKEQEIETI	KIIETEDQID	KKPVSEKTDE	SDTIPYLKKF	LYNFDNPWNF	QNIPKETELP
490	500	510	520	530	540
FPKQILDQNN	VIENEETGEF	SIDNYPTDNT	KVMIFKSSYS	LSDMVSNIEL	PTRIHEEVYF
550	560	570	580	590	600
EPSSSKDSDE	NSKPSVDTEG	PALVEIDRSV	ENTLLNSQMV	STDNSLSSQN	YISQKEDASE
610	620	630	640	650	660
FQILKYLFQI	DVYDFMNSAF	SPIVILTERV	VAALPEGMRP	DSNLYGFPWE	LVICAAVVGF
670	680	690	700	710	720
FAVLFFLWRS	FRSVRSRLYV	GREKKLALML	SGLIEEKSKL	LEKFSLVQKE	YEGYEVESSL
730	740	750	760	770	780
KDASFEKEAT	EAQSLEATCE	KLNRSNSELE	DEILCLEKEL	KEEKSKHSEQ	DELMADISKR
790	800	810	820	830	840
IQSLEDESKS	LKSQVAEAKM	TFKIFQMNEE	RLKIAIKDAL	NENSQLQESQ	KQLLQEAEVW
850	860	870	880	890	900
KEQVSELNKQ	KVTFEDSKVH	AEQVLNDKES	HIKTLTERLL	KMKDWAAMLG	EDITDDDNLE
910	920	930	940	950	960
LEMNSESENG	AYLDNPPKGA	LKKLIHAAKL	NASLKTLEGE	RNQIYIQLSE	VDKTKEELTE
970	980	990	1000	1010	1020
HIKNLQTEQA	SLQSENTHFE	NENQKLQQKL	KVMTELYQEN	EMKLHRKLTV	EENYRLEKEE
1030	1040	1050	1060	1070	1080
KLSKVDEKIS	HATEELETYR	KRAKDLEEEL	ERTIHSYQGQ	IISHEKKAHD	NWLAARNAER
1090	1100	1110	1120	1130	1140
NLNDLRKENA	HNRQKLTETE	LKFELLEKDP	YALDVPNTAF	GREHSPYGPS	PLGWPSSETR
1150	1160	1170	1180	1190	1200
AFLSPPTLLE	GPLRLSPLLP	GGGGRGSRGP	GNPLDHQITN	ERGESSCDRL	TDPHRAPSDT
1210	1220	1230	1240	1250	1260
GSLSPPWDQD	RRMMFPPPGQ	SYPDSALPPQ	RQDRFCSNSG	RLSGPAELRS	FNMPSLDKMD
1270	1280	1290	1300	1310	1320
GSMPSEMESS	RNDTKDDLGN	LNVPDSSLPA	ENEATGPGFV	PPPLAPIRGP	LFPVDARGPF
1330	1340	1350	1360	1370	1380
LRRGPPFPPP	PPGAMFGASR	DYFPPGDFPG	PPPAPFAMRN	VYPPRGFPPY	LPPRPGFFPP
1390	1400	1410
PPHSEGRSEF	PSGLIPPSNE	PATEHPEPQQ	ET