AiPD: Autoinhibited Protein Database

Q8TC20

Gene name	CAGE1 (CTAG3)
Protein name	Cancer-associated gene 1 protein
Names	CAGE-1, Cancer/testis antigen 3, CT3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:285782
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

120-194 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

120-194 (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 Q8TC20

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8TC20-F1	Predicted				AlphaFoldDB

555 variants for Q8TC20

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
COSM1081492 CA133953091 rs1021333963 COSM1596516	2	N>D	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1157019876 CA362665973	2	N>T		No	ClinGen gnomAD
rs1425945967 CA362665954	4	D>E		No	ClinGen gnomAD
rs779198046 CA133953087	4	D>N		No	ClinGen gnomAD
CA3627483 rs369251036	6	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA133953077 rs891676924	7	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	8	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755143431 CA3627482	8	F>V		No	ClinGen ExAC gnomAD
rs181766970 CA133953063	10	S>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA3627481 rs115342469	10	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA133953059 rs905735603	15	P>L		No	ClinGen TOPMed
rs1056635960 CA133953052	17	H>Q		No	ClinGen TOPMed
rs1258818475 CA362665870	17	H>R		No	ClinGen TOPMed gnomAD
CA362665858 rs1214973827	19	E>Q		No	ClinGen gnomAD
CA133953043 rs199599856	27	V>A		No	ClinGen Ensembl
rs1561870258 CA362665781	29	S>G		No	ClinGen Ensembl
CA362665774 rs1231667469	29	S>N		No	ClinGen gnomAD
CA133953036 rs939510199	31	S>L		No	ClinGen TOPMed gnomAD
CA3627480 rs780325334	33	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA133953011 rs919679981	36	M>L		No	ClinGen TOPMed
CA3627479 rs371529381	37	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1287693041 CA362665659	39	S>N		No	ClinGen gnomAD
CA3627478 rs188359408	40	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA133953005 rs139231820	40	N>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs1359856931 CA362665640	41	L>V		No	ClinGen gnomAD
rs1175553725 CA362665628	42	S>A		No	ClinGen gnomAD
CA362665623 rs1433116043	42	S>F		No	ClinGen gnomAD
CA362665614 rs1343650809	43	Q>P		No	ClinGen TOPMed
CA362665607 rs1244855928	44	G>S		No	ClinGen TOPMed
rs765694427 CA133953004	45	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3627477 rs765694427	45	V>L		No	ClinGen ExAC TOPMed gnomAD
CA362665584 rs930667863	46	M>K		No	ClinGen TOPMed gnomAD
CA133952999 rs930667863	46	M>T		No	ClinGen TOPMed gnomAD
rs1187633750 CA362665590	46	M>V		No	ClinGen TOPMed
CA362665573 rs1451168358	47	L>F		No	ClinGen gnomAD
rs1185907278 CA362665551	49	H>R		No	ClinGen gnomAD
rs912795139 CA133952994	49	H>Y		No	ClinGen TOPMed gnomAD
rs1483515068 CA362665539	50	S>F		No	ClinGen gnomAD
CA362665523 rs1174205784	52	I>V		No	ClinGen TOPMed
rs1581703618 CA362665468	56	T>S		No	ClinGen Ensembl
CA362665459 rs200490702	57	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3627475 rs566734281	57	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3627476 rs200490702	57	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA133952982 rs756527080	58	G>S		No	ClinGen gnomAD
rs372276847 CA362665432	60	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs372276847 CA3627473	60	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA362665378 rs1298704513	64	P>L		No	ClinGen TOPMed
CA362665385 rs1385506708	64	P>S		No	ClinGen TOPMed
CA362665370 rs1291761569	65	Q>R		No	ClinGen gnomAD
CA362665094 rs776776117	66	N>K		No	ClinGen ExAC TOPMed gnomAD
CA362665093 rs1270068937	67	E>K		No	ClinGen TOPMed gnomAD
rs983600929 CA133952375	68	I>M		No	ClinGen Ensembl
CA362665082 rs1227076593	68	I>R		No	ClinGen TOPMed gnomAD
rs1227076593 CA362665080	68	I>T		No	ClinGen TOPMed gnomAD
rs1281048362 CA362665058	71	F>C		No	ClinGen TOPMed
rs1322855656 CA362665055	72	E>K		No	ClinGen gnomAD
rs1344298099 CA362665036	74	E>V		No	ClinGen TOPMed
CA3627464 rs768549391	76	E>*		No	ClinGen ExAC TOPMed gnomAD
CA362665024 rs768549391	76	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3627463 rs747124047	81	L>I		No	ClinGen ExAC TOPMed gnomAD
CA133952349 rs879219864	82	C>R		No	ClinGen Ensembl
rs780092437 CA3627462	82	C>Y		No	ClinGen ExAC TOPMed
TCGA novel	84	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362664957 rs1490524019	85	A>V		No	ClinGen TOPMed
rs955172056 CA133952342	86	Y>C		No	ClinGen TOPMed
rs1030578237 CA133952337	87	G>S		No	ClinGen TOPMed gnomAD
rs374228721 CA3627460	90	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA362664930 rs374228721	90	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3627459 rs779227583	91	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3627449 rs765844839	95	D>V		No	ClinGen ExAC gnomAD
CA133948161 rs948535453	98	I>F		No	ClinGen Ensembl
rs1255319846 CA362664834	101	Y>*		No	ClinGen gnomAD
CA362664825 rs1192082979	103	T>A		No	ClinGen gnomAD
CA133948157 rs898230467	103	T>M		No	ClinGen TOPMed gnomAD
rs762640407 CA3627448	104	N>S		No	ClinGen ExAC gnomAD
CA362664811 rs1348697933	105	A>E		No	ClinGen gnomAD
rs1260192127 CA362664789	108	Q>H		No	ClinGen gnomAD
rs1561867085 CA362664752	114	S>N		No	ClinGen Ensembl
CA3627447 rs773053959	114	S>R		No	ClinGen ExAC gnomAD
rs767584206 CA133948143	115	I>V		No	ClinGen Ensembl
rs1439800964 CA362664741	116	S>T		No	ClinGen gnomAD
rs761705592 CA3627445	117	S>F		No	ClinGen ExAC gnomAD
rs765118787 CA3627446	117	S>P		No	ClinGen ExAC TOPMed gnomAD
rs776650202 CA3627444	118	L>S		No	ClinGen ExAC gnomAD
CA362664724 rs1169819279	119	R>K		No	ClinGen TOPMed
CA362664699 rs1436221586	122	E>G		No	ClinGen gnomAD
rs572256370 CA3627441	124	V>I		No	ClinGen ExAC TOPMed gnomAD
CA362664682 rs1454154565	125	C>G		No	ClinGen gnomAD
rs183206380 CA3627440	130	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201345450 CA3627437	132	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA3627439 rs779176539	132	A>S		No	ClinGen ExAC TOPMed gnomAD
rs779176539 CA3627438	132	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1211613591 CA362664619	134	D>Y		No	ClinGen gnomAD
rs374515749 CA3627435	135	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1298264651 CA362664566	140	K>N		No	ClinGen TOPMed
TCGA novel	143	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362664532 rs1271681438	145	S>N		No	ClinGen gnomAD
CA362664517 rs1428589053	147	V>L		No	ClinGen TOPMed gnomAD
CA362664519 rs1428589053	147	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	150	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel CA362664476 rs1334252821	152	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA362664475 rs201771683	153	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3627431 rs201771683	153	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs955075038 CA133948040	154	N>K		No	ClinGen TOPMed gnomAD
rs750029374 CA3627429	155	N>S		No	ClinGen ExAC TOPMed gnomAD
CA362664453 rs1422255667	156	I>V		No	ClinGen TOPMed
rs186472261 CA3627428	157	K>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs186472261 CA362664446	157	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3627427 rs761650545	158	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA3627426 rs202118772	159	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377555769 CA3627425	163	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs900099113 CA133948006	164	E>D		No	ClinGen TOPMed gnomAD
rs58045825 CA133948011	164	E>K		No	ClinGen Ensembl
CA3627424 rs760639703	165	N>T		No	ClinGen ExAC TOPMed gnomAD
rs775348115 CA3627423	167	M>V		No	ClinGen ExAC TOPMed gnomAD
CA3627422 rs10223538 VAR_031200	169	T>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA362664360 rs1438569762	169	T>S		No	ClinGen TOPMed gnomAD
CA3627420 rs774500480	170	S>N		No	ClinGen ExAC TOPMed gnomAD
CA3627419 rs771167139	170	S>R		No	ClinGen ExAC gnomAD
rs371037742 CA3627418	174	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA362664323 rs1266485355	175	T>R		No	ClinGen TOPMed
CA362664324 rs1225511943	175	T>S		No	ClinGen TOPMed
CA133947987 rs1002747017	178	L>F		No	ClinGen TOPMed
CA362664295 rs1353064687	179	G>A		No	ClinGen gnomAD
CA362664278 CA362664279 rs971716736	181	E>D		No	ClinGen TOPMed gnomAD
CA3627416 rs578061218	182	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA362664257 rs1396203230	184	R>S		No	ClinGen gnomAD
rs1476455255 CA362664242	186	P>H		No	ClinGen gnomAD
rs1476455255 CA362664243	186	P>L		No	ClinGen gnomAD
TCGA novel	187	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3627414 rs45437691	187	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3627412 rs757921893	190	S>I		No	ClinGen ExAC gnomAD
rs373825062 CA3627411	191	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369388517 CA3627409	192	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3627408 rs201015932	195	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3627407 rs763938788	197	S>G		No	ClinGen ExAC gnomAD
CA3627406 rs760455037	197	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	198	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3627404 rs373153702	199	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs759568146 CA3627401	200	M>I		No	ClinGen ExAC gnomAD
rs1434162021 CA3627402	200	M>T		No	ClinGen TOPMed
rs1292872934 CA362664153	201	L>V		No	ClinGen TOPMed
CA362664147 rs1440992323	202	K>E		No	ClinGen gnomAD
CA133947894 rs200558049	204	T>S		No	ClinGen Ensembl
CA3627398 rs771044294	209	A>G		No	ClinGen ExAC gnomAD
rs774449564 CA3627399	209	A>S		No	ClinGen ExAC gnomAD
rs773370160 CA3627396	210	K>E		No	ClinGen ExAC gnomAD
CA362664088 rs1410224715	211	S>G		No	ClinGen gnomAD
rs1195207056 CA362664041	217	A>V		No	ClinGen gnomAD
rs1342673851 CA362664039	218	L>V		No	ClinGen TOPMed gnomAD
rs1276652333 CA362664024	220	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA362664013 rs1229295518	221	S>R		No	ClinGen TOPMed
rs369787940 CA362664003	223	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3627392 rs369787940	223	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs778544015 CA3627390	225	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1281481580 CA362663971	228	C>R		No	ClinGen gnomAD
CA3627389 rs768036128	228	C>S		No	ClinGen ExAC TOPMed gnomAD
CA133947837 rs768036128	228	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs770500142 CA3627372	231	A>S		No	ClinGen ExAC gnomAD
rs1215691605 CA362663934	231	A>V		No	ClinGen gnomAD
CA3627370 rs371855696	233	P>T		No	ClinGen ESP ExAC gnomAD
CA362663904 rs1376133889	236	E>G		No	ClinGen gnomAD
rs747878969 CA3627368	238	Q>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
TCGA novel	239	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780948876 CA3627367	240	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA133945364 rs779287645	244	P>H		No	ClinGen TOPMed
rs754830253 CA3627366	244	P>S		No	ClinGen ExAC gnomAD
CA362663834 rs1417218522	246	M>T		No	ClinGen TOPMed gnomAD
rs540357154 CA133945360	250	Y>*		No	ClinGen Ensembl
CA3627365 rs751428743	251	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1333151879 CA362663784	253	E>A		No	ClinGen TOPMed gnomAD
TCGA novel	254	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3627364 rs766314516	254	V>I		No	ClinGen ExAC TOPMed gnomAD
rs758454650 CA3627363	255	T>I		No	ClinGen ExAC TOPMed gnomAD
CA362663770 rs758454650	255	T>R		No	ClinGen ExAC TOPMed gnomAD
CA362663745 rs1170974108	259	V>A		No	ClinGen gnomAD
CA362663727 rs1255788436	262	P>A		No	ClinGen TOPMed gnomAD
CA3627359 rs761917930	262	P>R		No	ClinGen ExAC gnomAD
rs764550691 CA3627358	263	E>*		No	ClinGen ExAC gnomAD
CA3627357 rs764550691	263	E>K		No	ClinGen ExAC gnomAD
TCGA novel	266	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201524651 CA3627356	266	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3627355 rs776086200	267	T>A		No	ClinGen ExAC gnomAD
CA133945285 rs1022520241	268	W>L		No	ClinGen TOPMed gnomAD
CA3627354 rs368353493	270	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3627351 rs769400904	272	G>A		No	ClinGen ExAC gnomAD
CA3627350 rs747789883	275	W>C		No	ClinGen ExAC gnomAD
CA362663620 rs1169929170	279	A>T		No	ClinGen gnomAD
CA3627346 rs142828071	281	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3627348 rs76314363	281	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3627345 VAR_031201 rs2876098	282	E>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA362663600 rs2876098	282	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1348013711 CA362663603	282	E>K		No	ClinGen TOPMed
CA133945246 rs1044562665	284	C>S		No	ClinGen TOPMed gnomAD
CA362663585 rs1044562665	284	C>Y		No	ClinGen TOPMed gnomAD
rs778845517 CA3627343	286	M>T		No	ClinGen ExAC TOPMed gnomAD
rs750422560 CA3627344	286	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	287	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362663564 rs1351697369	287	P>S		No	ClinGen TOPMed
CA362663556 rs1482691434	288	D>G		No	ClinGen gnomAD
rs148511680 CA3627342	290	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362663533 rs1249942024	291	Q>P		No	ClinGen TOPMed gnomAD
CA362663532 rs1249942024	291	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel CA3627340 rs764426003	292	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA3627339 rs761076113	296	L>*		No	ClinGen ExAC TOPMed gnomAD
rs753145280 CA3627338	296	L>F		No	ClinGen ExAC TOPMed gnomAD
rs767969952 CA133945216	298	P>A		No	ClinGen ExAC gnomAD
TCGA novel	298	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759941879 CA3627336	298	P>R		No	ClinGen ExAC gnomAD
rs767969952 CA3627337	298	P>S		No	ClinGen ExAC gnomAD
CA362663479 rs1370952597	299	V>A		No	ClinGen gnomAD
CA362663480 rs1370952597	299	V>G		No	ClinGen gnomAD
CA362663465 rs1330369524	301	E>G		No	ClinGen gnomAD
rs1178467964 CA362663469	301	E>K		No	ClinGen TOPMed
rs577811411 CA3627335	302	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362663454 rs1162703657	303	M>V		No	ClinGen gnomAD
TCGA novel	306	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1457026259 CA362663415	308	V>L		No	ClinGen gnomAD
CA133945199 rs912565873	309	L>F		No	ClinGen TOPMed gnomAD
CA362663377 rs1326496342	313	K>R		No	ClinGen TOPMed
rs1183582901 CA362663361	315	T>S		No	ClinGen gnomAD
CA3627333 rs761324060	316	N>K		No	ClinGen ExAC gnomAD
rs1396652328 CA362663329	320	E>K		No	ClinGen TOPMed
TCGA novel	321	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362663321 rs1178347532	321	V>M		No	ClinGen gnomAD
rs768327020 CA3627331	322	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1051856393 CA362663314	322	R>P		No	ClinGen gnomAD
rs1051856393 CA133945151	322	R>Q		No	ClinGen gnomAD
rs1327970086 CA362663312	323	I>L		No	ClinGen TOPMed
rs746702793 CA3627330	324	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	328	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3627328 rs771959214	328	C>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	330	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362663251 rs1261345297	331	L>P		No	ClinGen gnomAD
TCGA novel	334	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362663211 rs1315295461	336	R>S		No	ClinGen gnomAD
rs1234017471 CA362663214	336	R>T		No	ClinGen TOPMed
rs921665729 CA133945116	337	V>F		No	ClinGen Ensembl
CA3627326 rs570196844	338	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA362663201 rs1308266901	338	K>R		No	ClinGen gnomAD
rs757355283 CA3627325	342	M>I		No	ClinGen ExAC gnomAD
CA362663174 rs1351420515	342	M>K		No	ClinGen gnomAD
CA362663166 rs1386117409	343	K>T		No	ClinGen gnomAD
rs201211151 CA3627324	345	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA362663108 rs1408458517	351	I>T		No	ClinGen TOPMed gnomAD
CA3627322 rs778104177	351	I>V		No	ClinGen ExAC gnomAD
CA362663096 rs1251697881	353	V>I		No	ClinGen TOPMed
CA362663083 rs199880823	355	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3627321 rs199880823	355	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3627320 rs753020468	355	N>S		No	ClinGen ExAC gnomAD
rs1451490039 CA362663060	358	K>R		No	ClinGen gnomAD
rs202038274 CA3627318	361	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA362663033 rs1206906880	362	E>K		No	ClinGen gnomAD
rs1581693149 CA362663027	363	E>K		No	ClinGen Ensembl
CA362663006 rs1285652169	365	I>M		No	ClinGen gnomAD
rs1349842479 CA362663001	366	E>G		No	ClinGen gnomAD
rs1235276350 CA362663005	366	E>K		No	ClinGen gnomAD
CA362662990 rs1561864567	367	D>E		No	ClinGen Ensembl
rs1326890932 CA362662942	374	E>G		No	ClinGen gnomAD
CA3627316 rs374283046	375	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs761271003 CA3627315	375	K>N		No	ClinGen ExAC gnomAD
CA3627314 COSM3831001 COSM3831003 rs781631212 COSM3831002	376	N>D	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1355113986 CA362662922	377	D>G		No	ClinGen TOPMed
CA133945048 rs370574398	377	D>H		No	ClinGen ESP TOPMed gnomAD
CA362662925 rs370574398	377	D>N		No	ClinGen ESP TOPMed gnomAD
CA362662914 rs768202423	378	T>I		No	ClinGen ExAC TOPMed gnomAD
CA3627313 rs768202423	378	T>S		No	ClinGen ExAC TOPMed gnomAD
rs760306465 CA3627312	381	T>I		No	ClinGen ExAC gnomAD
CA362662872 rs1411761344	384	N>I		No	ClinGen TOPMed gnomAD
TCGA novel	386	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771698858 CA3627310	387	E>*		No	ClinGen ExAC gnomAD
rs774109668 CA3627309	388	V>F		No	ClinGen ExAC TOPMed gnomAD
rs536892431 CA3627307	388	V>G		No	ClinGen 1000Genomes ExAC gnomAD
rs774109668 CA3627308	388	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1211908252 CA362662839	389	L>F		No	ClinGen gnomAD
rs749281807 CA3627306	392	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749281807 CA133945023	392	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1199594605 CA362662818	393	Q>E		No	ClinGen gnomAD
CA362662799 rs777980880	395	H>L		No	ClinGen ExAC gnomAD
CA362662800 rs777980880	395	H>P		No	ClinGen ExAC gnomAD
CA133945011 rs1044530047	395	H>Q		No	ClinGen TOPMed
CA3627305 rs777980880	395	H>R		No	ClinGen ExAC gnomAD
CA362662789 rs1339323342	397	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs185029616 CA3627304	397	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA133944999 rs931515970	400	R>G		No	ClinGen TOPMed gnomAD
CA3627303 rs748248507	400	R>K		No	ClinGen ExAC gnomAD
CA3627301 rs755246608	403	K>E		No	ClinGen ExAC gnomAD
CA362662736 CA3627299 rs766691727	404	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs1188671517 COSM319206 CA362662729 COSM319205	405	M>I	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1423032256 CA362662734	405	M>K		No	ClinGen gnomAD
rs758879397 CA133944976	405	M>L		No	ClinGen ExAC gnomAD
rs758879397 CA3627298	405	M>V		No	ClinGen ExAC gnomAD
rs1236009353 CA362662703	409	Q>R		No	ClinGen gnomAD
rs760183390 CA3627293	412	K>N		No	ClinGen ExAC gnomAD
CA133944921 rs900147427	413	I>V		No	ClinGen TOPMed
CA133944914 rs1042795019	415	A>P		No	ClinGen gnomAD
CA133944907 rs947098794	415	A>V		No	ClinGen TOPMed
CA3627292 rs774948847	416	N>T		No	ClinGen ExAC TOPMed gnomAD
CA362662647 rs1234667748	417	Y>C		No	ClinGen gnomAD
CA362662649 rs1273273775	417	Y>D		No	ClinGen gnomAD
CA3627291 rs767223637	418	V>A		No	ClinGen ExAC gnomAD
CA3627290 rs759214291	421	Q>R		No	ClinGen ExAC gnomAD
CA3627289 rs774168434	422	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3627288 rs770902760	423	R>T		No	ClinGen ExAC gnomAD
rs773283429 CA362662601	424	Y>C		No	ClinGen ExAC gnomAD
rs199850738 CA3627287	424	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773283429 CA3627286	424	Y>S		No	ClinGen ExAC gnomAD
rs988708300 CA133944864	426	T>N		No	ClinGen TOPMed gnomAD
CA362662578 rs1465298705	427	E>K		No	ClinGen Ensembl
rs769933099 CA3627285	428	M>T		No	ClinGen ExAC gnomAD
rs748278473 CA3627284	430	Q>P		No	ClinGen ExAC gnomAD
rs781228739 CA3627283	432	N>H		No	ClinGen ExAC gnomAD
TCGA novel	432	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362662478 rs1457152524	434	S>Y		No	ClinGen TOPMed gnomAD
CA362662458 rs1561864340	436	S>I		No	ClinGen Ensembl
TCGA novel	436	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755194718 CA3627281	436	S>R		No	ClinGen ExAC gnomAD
CA362662451 rs1371100685	437	Q>*		No	ClinGen TOPMed
TCGA novel	437	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362662406 rs1288483152	440	E>D		No	ClinGen gnomAD
CA133944823 rs879012595	441	M>T		No	ClinGen TOPMed
CA362662379 rs780382932	442	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1231471850 CA362662383	442	D>G		No	ClinGen TOPMed
CA362662295 rs1373111160	447	K>E		No	ClinGen gnomAD
CA3627276 rs565404738	449	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA133944808 rs928189796	450	E>K		No	ClinGen Ensembl
CA133944795 rs982338363	451	E>D		No	ClinGen TOPMed
rs755531598 CA3627272	455	L>P		No	ClinGen ExAC TOPMed gnomAD
CA133944772 rs916552780	456	Q>R		No	ClinGen Ensembl
rs1401509408 CA362662173	457	Q>*		No	ClinGen gnomAD
CA3627269 rs375725860	459	K>R		No	ClinGen ESP ExAC gnomAD
rs576095436 CA3627268	461	E>*		No	ClinGen 1000Genomes ExAC gnomAD
CA362662080 rs1487438871	463	E>K		No	ClinGen gnomAD
rs1245643259 CA362662059	464	K>E		No	ClinGen gnomAD
CA133944700 rs200921165	465	A>V		No	ClinGen 1000Genomes
CA3627266 rs766276713	470	L>S		No	ClinGen ExAC TOPMed gnomAD
rs761693316 CA3627262	475	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs746643033 CA3627263	475	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1304574226 CA362661856	476	E>D		No	ClinGen gnomAD
rs866412142 CA133944648	476	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA362661827 rs1221456158	478	E>*		No	ClinGen gnomAD
rs1035746316 CA133944647	478	E>G		No	ClinGen TOPMed
rs776748203 CA3627261	479	A>V		No	ClinGen ExAC gnomAD
rs768674093 CA3627260	483	E>D		No	ClinGen ExAC gnomAD
rs1325892764 CA362661744	483	E>G		No	ClinGen TOPMed
TCGA novel	484	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362661702 COSM484336 COSM1137566 COSM484335 rs1425635987	485	L>F	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA3627259 rs373407949	485	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3627257 rs780258432	486	S>P		No	ClinGen ExAC TOPMed gnomAD
CA362661699 rs780258432	486	S>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	487	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3627255 rs531188231	488	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA362661655 rs1477000581	488	Q>R		No	ClinGen TOPMed gnomAD
COSM461743 COSM1134593 CA362661628 COSM461742 rs1211732085	490	E>K	cervix Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA3627253 rs560699689	491	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362661599 rs1175223058	491	F>Y		No	ClinGen gnomAD
rs1030675254 CA133944558	494	L>P		No	ClinGen gnomAD
rs868137180 CA133944541	495	E>D		No	ClinGen Ensembl
CA362661519 rs1195319730	496	K>R		No	ClinGen TOPMed
TCGA novel	498	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362661458 rs1561864120	501	E>G		No	ClinGen Ensembl
CA362661452 rs1476135172	502	R>G		No	ClinGen gnomAD
rs1188629000 CA362661428	503	Q>R		No	ClinGen gnomAD
CA362661360 rs571770013	508	R>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	514	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3627246 rs762792875	518	N>K		No	ClinGen ExAC gnomAD
TCGA novel	519	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	519	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3627243 rs372024570	522	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3627244 rs765170075	522	M>T		No	ClinGen ExAC gnomAD
rs750209445 CA3627245	522	M>V		No	ClinGen ExAC TOPMed gnomAD
CA362661129 rs1395911837	528	T>A		No	ClinGen TOPMed
rs544846885 CA3627242	528	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762571689 CA133944456	529	K>*		No	ClinGen Ensembl
rs775641451 CA3627239	532	K>T		No	ClinGen ExAC gnomAD
rs1192229957 CA362661069	533	L>F		No	ClinGen gnomAD
CA362661054 rs1221371677	534	Q>H		No	ClinGen gnomAD
CA362661030 rs1370641549	536	Q>R		No	ClinGen TOPMed
TCGA novel	537	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1307340507 CA362660986	539	E>D		No	ClinGen TOPMed
COSM1199434 COSM1081461 CA362660994 COSM1081460 rs1482505651	539	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs34744890 CA362660982	540	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3627236 rs34744890	540	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3627234 rs749801554	541	K>R		No	ClinGen ExAC gnomAD
rs1230967451 CA362660939	545	A>S		No	ClinGen TOPMed
rs1256245689 CA362660926	547	L>F		No	ClinGen TOPMed gnomAD
CA133944410 rs142041363	549	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3627233 rs142041363	549	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1335530709 CA362660900	550	Q>H		No	ClinGen gnomAD
rs1230973271 CA362660869	555	E>G		No	ClinGen TOPMed
rs1315161535 CA362660858	556	E>D		No	ClinGen gnomAD
rs754458187 CA3627232	557	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	558	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362660821 rs1480219198	562	K>*		No	ClinGen TOPMed
rs200653577 CA362660790	566	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3627231 rs200653577	566	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362660787 rs1169855749	566	A>V		No	ClinGen gnomAD
CA3627230 rs779747390	568	L>*		No	ClinGen ExAC TOPMed gnomAD
rs758099581 CA3627229	569	K>M		No	ClinGen ExAC TOPMed gnomAD
rs1463477708 CA362660759	570	D>E		No	ClinGen TOPMed
rs1422832430 CA362660763	570	D>Y		No	ClinGen gnomAD
rs761517292 CA3627227	571	Q>H		No	ClinGen ExAC gnomAD
rs753751154 CA3627225	572	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1168708803 CA362660750	572	L>I		No	ClinGen TOPMed
CA362660748 rs1178075253	572	L>S		No	ClinGen gnomAD
CA362660744 rs1236941142	573	E>K		No	ClinGen gnomAD
rs760706865 CA3627223	575	V>A		No	ClinGen ExAC TOPMed gnomAD
rs763960552 CA3627224	575	V>I		No	ClinGen ExAC gnomAD
CA3627222 rs775518647	576	L>W		No	ClinGen ExAC TOPMed gnomAD
CA3627221 rs367731088	580	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs759744070 CA3627220	581	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA133942493 rs994066947	583	D>Y		No	ClinGen TOPMed gnomAD
CA133942484 rs762074102	584	T>A		No	ClinGen Ensembl
CA3627203 rs752641885	585	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1463432744 CA362660369	585	K>N		No	ClinGen TOPMed
CA3627202 COSM3411258 rs767515041 COSM3411256 COSM3411257	586	T>M	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA362660344 rs1417439977	588	H>P		No	ClinGen gnomAD
rs1047765887 CA133942446	588	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3627199 rs766554545	590	N>H		No	ClinGen ExAC gnomAD
CA3627196 rs376342450	593	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA133942422 rs867274602	594	D>N		No	ClinGen Ensembl
CA133942413 rs551141818	598	C>Y		No	ClinGen Ensembl
CA3627193 rs771695866	600	E>D		No	ClinGen ExAC gnomAD
CA3627192 rs745419866	601	R>K		No	ClinGen ExAC TOPMed gnomAD
CA3627191 rs201271974	603	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA362660190 rs1581690142	605	A>S		No	ClinGen Ensembl
rs1254233088 CA362660184	606	D>N		No	ClinGen gnomAD
rs537519924 CA3627190	606	D>V		No	ClinGen ExAC gnomAD
CA3627189 rs748991497	607	I>T		No	ClinGen ExAC TOPMed gnomAD
CA362660178 rs1326538902	607	I>V		No	ClinGen gnomAD
CA3627188 rs777371150	609	R>G		No	ClinGen ExAC gnomAD
CA3627187 rs755904610	610	A>D		No	ClinGen ExAC gnomAD
rs1386902755 CA362660139	613	L>V		No	ClinGen TOPMed
CA362660131 rs1238914454	614	A>G		No	ClinGen gnomAD
TCGA novel	614	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	614	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3627186 rs752623297	618	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1319398521 CA362660096	619	S>T		No	ClinGen TOPMed
rs1006620902 CA133942374	622	A>T		No	ClinGen Ensembl
rs889520394 CA133942370	624	M>I		No	ClinGen TOPMed
rs767496583 CA3627185	624	M>T		No	ClinGen ExAC TOPMed gnomAD
CA3627184 rs755023634	626	G>V		No	ClinGen ExAC gnomAD
TCGA novel	628	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs45502393 CA3627183	631	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362659703 rs1337775141	634	I>N		No	ClinGen TOPMed
CA133941473 rs772307902	635	N>S		No	ClinGen TOPMed gnomAD
CA133941472 rs868033934	638	A>S		No	ClinGen Ensembl
CA133941448 rs865955522	639	E>*		No	ClinGen Ensembl
rs1245769868 CA362659605	639	E>D		No	ClinGen gnomAD
CA3627170 rs769560770	643	E>D		No	ClinGen ExAC gnomAD
CA3627169 rs747982278	645	E>G		No	ClinGen ExAC gnomAD
CA3627167 rs781000321	647	V>A		No	ClinGen ExAC gnomAD
CA362659440 rs1374663549	648	S>G		No	ClinGen gnomAD
rs1561862254 CA362659387	650	I>M		No	ClinGen Ensembl
CA3627166 rs372599991	650	I>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA362659390 rs372599991	650	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1324225119 CA362659399	650	I>V		No	ClinGen TOPMed gnomAD
CA362659350 rs1411982527	653	Q>*		No	ClinGen TOPMed gnomAD
TCGA novel	654	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362659313 rs1162878417	654	K>R		No	ClinGen gnomAD
rs1196769214 CA362659279	655	L>P		No	ClinGen TOPMed
rs146115743 CA362659249	656	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs536949246 CA133941411	657	S>N		No	ClinGen 1000Genomes
rs376464144 CA3627164	657	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3627163 rs758572065	658	L>F		No	ClinGen ExAC TOPMed gnomAD
CA3627161 rs373050783	662	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA362659003 rs1449361366	663	K>N		No	ClinGen gnomAD
rs1216841716 CA362658973	665	L>*		No	ClinGen gnomAD
CA3627160 rs762237360	665	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1298510181 CA362658929	666	D>E		No	ClinGen TOPMed
rs764575013 CA3627158	666	D>N		No	ClinGen ExAC gnomAD
rs192919356 CA3627130	670	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362657861 rs1412339685	670	I>V		No	ClinGen TOPMed gnomAD
rs775261044 CA3627129	671	D>Y		No	ClinGen ExAC gnomAD
CA3627128 rs772006207	672	C>S		No	ClinGen ExAC gnomAD
CA362657810 rs1248992692	677	A>G		No	ClinGen TOPMed gnomAD
rs200028605 CA3627127	677	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA362657799 rs1195765717	679	S>G		No	ClinGen gnomAD
CA3627126 rs779077314	679	S>N		No	ClinGen ExAC gnomAD
TCGA novel	680	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362657788 rs1295601600	680	I>T		No	ClinGen TOPMed
CA3627124 rs375800106	681	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs375800106 CA3627125	681	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1488820771 CA362657777	682	D>G		No	ClinGen gnomAD
CA362657762 rs1381742925	684	P>L		No	ClinGen gnomAD
rs756409000 CA3627122	685	T>N		No	ClinGen ExAC gnomAD
CA362657754 rs1397532266	686	L>F		No	ClinGen gnomAD
TCGA novel	687	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3627120 rs767798625	688	G>A		No	ClinGen ExAC TOPMed gnomAD
rs527881100 CA3627119	689	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA362657720 rs1443206338	692	D>G		No	ClinGen gnomAD
CA3627118 rs752069157	692	D>N		No	ClinGen ExAC TOPMed gnomAD
rs752069157 CA362657721	692	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA3627117 rs145708845	694	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1179834352 CA362657694	695	H>Q		No	ClinGen gnomAD
CA362657690 rs1236442971	696	S>N		No	ClinGen TOPMed gnomAD
CA3627116 rs200680929	696	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776245516 CA3627115	701	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3627113 rs372243525	702	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	703	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA133939419 rs893070220	703	F>S		No	ClinGen Ensembl
TCGA novel	704	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1469390874 CA362665236	709	E>D		No	ClinGen gnomAD
TCGA novel	710	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3627080 rs768987660	711	I>N		No	ClinGen ExAC gnomAD
CA362665219 rs747415887	712	I>F		No	ClinGen ExAC TOPMed gnomAD
CA3627078 rs199925787	712	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747415887 CA3627079	712	I>V		No	ClinGen ExAC TOPMed gnomAD
CA133951385 rs938707436	714	C>R		No	ClinGen TOPMed
CA133951383 rs938707436	714	C>S		No	ClinGen TOPMed
rs972613244 CA133951381	717	Q>*		No	ClinGen TOPMed gnomAD
rs972613244 CA362665187	717	Q>E		No	ClinGen TOPMed gnomAD
CA362665184 rs1268973612	717	Q>P		No	ClinGen gnomAD
rs192251770 CA3627077	718	R>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1561856978 CA362665163	720	A>V		No	ClinGen Ensembl
rs199529631 CA3627076	721	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs777270066 CA3627075	722	S>P		No	ClinGen ExAC gnomAD
rs980479926 CA133951353	725	Q>E		No	ClinGen Ensembl
CA3627072 rs575215580	726	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370217410 CA3627074	726	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	727	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362662117 rs1211224176	729	L>W		No	ClinGen TOPMed gnomAD
rs1554136206 CA362662103	730	E>*		No	ClinGen Ensembl
CA362662061 rs1263836471	732	R>G		No	ClinGen TOPMed
TCGA novel	732	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362662031 rs1362068232	733	N>D		No	ClinGen gnomAD
CA3627060 rs747254408	733	N>S		No	ClinGen ExAC gnomAD
CA362661983 rs1378376746	734	K>N		No	ClinGen gnomAD
rs1440179064 CA362661962	735	H>R		No	ClinGen gnomAD
CA133938526 rs78294075	737	E>G		No	ClinGen Ensembl
CA3627058 rs772429762	737	E>K		No	ClinGen ExAC gnomAD
rs1185307317 CA362661801	742	K>R		No	ClinGen TOPMed
rs535177392 CA3627056	744	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755626566 CA3627055	745	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1420078531 CA362661678	747	A>T		No	ClinGen gnomAD
rs1382160276 CA362661652	748	R>G		No	ClinGen gnomAD
rs747649547 CA3627054	748	R>T		No	ClinGen ExAC gnomAD
rs199899916 CA3627053	750	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs774887215 CA3627036	752	S>P		No	ClinGen ExAC gnomAD
rs774887215 CA362660666	752	S>T		No	ClinGen ExAC gnomAD
CA362660650 rs1225494174	754	S>T		No	ClinGen gnomAD
TCGA novel	757	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362660617 rs1363830338	758	H>L		No	ClinGen gnomAD
rs142647100 CA3627035	759	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1445486549 CA362660605	760	K>T		No	ClinGen gnomAD
rs1467809427 CA362660589	762	M>I		No	ClinGen gnomAD
rs754606336 CA3627031	762	M>V		No	ClinGen ExAC TOPMed gnomAD
CA3627030 rs746650741	764	M>V		No	ClinGen ExAC gnomAD
CA3627006 rs757141594	767	A>P		No	ClinGen ExAC gnomAD
CA3627005 rs753760023	767	A>V		No	ClinGen ExAC gnomAD
TCGA novel	768	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	770	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs964102088 CA133935345	773	R>G		No	ClinGen TOPMed gnomAD
rs777737725 CA3627004	774	N>K		No	ClinGen ExAC gnomAD
rs1241050880 CA362658880	777	D>V		No	ClinGen gnomAD

No associated diseases with Q8TC20

3 regional properties for Q8TC20

Type	Name	Position	InterPro Accession
conserved_site	Calreticulin/calnexin, conserved site	153 - 168	IPR018124-1
conserved_site	Calreticulin/calnexin, conserved site	187 - 195	IPR018124-2
conserved_site	Calreticulin/calnexin, conserved site	331 - 343	IPR018124-3

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MNKDYQKFWS	SPSDPVHFEV	DTSHEKVESM	SESDTMNVSN	LSQGVMLSHS	PICMETTGTT
70	80	90	100	110	120
CDLPQNEIKN	FERENEYEST	LCEDAYGTLD	NLLNDNNIEN	YSTNALIQPV	DTISISSLRQ
130	140	150	160	170	180
FETVCKFHWV	EAFDDEMTEK	PEFQSQVYNY	AKDNNIKQDS	FKEENPMETS	VSANTDQLGN
190	200	210	220	230	240
EYFRQPPPRS	PPLIHCSGEM	LKFTEKSLAK	SIAKESALNP	SQPPSFLCKT	AVPSKEIQNY
250	260	270	280	290	300
GEIPEMSVSY	EKEVTAEGVE	RPEIVSTWSS	AGISWRSEAC	RENCEMPDWE	QSAESLQPVQ
310	320	330	340	350	360
EDMALNEVLQ	KLKHTNRKQE	VRIQELQCSN	LYLEKRVKEL	QMKITKQQVF	IDVINKLKEN
370	380	390	400	410	420
VEELIEDKYK	IILEKNDTKK	TLQNLEEVLA	NTQKHLQESR	NDKEMLQLQF	KKIKANYVCL
430	440	450	460	470	480
QERYMTEMQQ	KNKSVSQYLE	MDKTLSKKEE	EVERLQQLKK	ELEKATASAL	DLLKREKEAQ
490	500	510	520	530	540
EQEFLSLQEE	FQKLEKENLE	ERQKLKSRLE	KLLTQVRNLQ	FMSENERTKN	IKLQQQINEV
550	560	570	580	590	600
KNENAKLKQQ	VARSEEQNYV	PKFETAQLKD	QLEEVLKSDI	TKDTKTTHSN	LLPDCSPCEE
610	620	630	640	650	660
RLNPADIKRA	SQLASKMHSL	LALMVGLLTC	QDIINSDAEH	FKESEKVSDI	MLQKLKSLHL
670	680	690	700	710	720
KKKTLDKEVI	DCDSDEAKSI	RDVPTLLGAK	LDKYHSLNEE	LDFLVTSYEE	IIECADQRLA
730	740	750	760	770
ISHSQIAHLE	ERNKHLEDLI	RKPREKARKP	RSKSLENHPK	SMTMMPALFK	ENRNDLD