AiPD: Autoinhibited Protein Database

Q9UPQ4

Gene name	TRIM35 (HLS5, KIAA1098)
Protein name	E3 ubiquitin-protein ligase TRIM35
Names	Hemopoietic lineage switch protein 5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23087
EC number	2.3.2.27: Aminoacyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-42 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-42 (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 Q9UPQ4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UPQ4-F1	Predicted				AlphaFoldDB

493 variants for Q9UPQ4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1049055092 CA174212461	2	E>*		No	ClinGen TOPMed
CA370797459 rs753008590	3	R>G		No	ClinGen ExAC TOPMed gnomAD
CA370797454 rs767884249	3	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4688095 rs767884249	3	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4688096 rs753008590	3	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1586062917 CA370797438	4	S>N		No	ClinGen Ensembl
CA370797418 rs1450890329	5	P>A		No	ClinGen gnomAD
rs994849862 CA174212456	5	P>R		No	ClinGen Ensembl
rs762551853 CA370797381	6	D>E		No	ClinGen ExAC gnomAD
CA4688092 rs766028609	6	D>G		No	ClinGen ExAC gnomAD
rs751238182 CA4688093	6	D>N		No	ClinGen ExAC gnomAD
CA370797393 rs751238182	6	D>Y		No	ClinGen ExAC gnomAD
CA370797346 rs772787780	8	S>C		No	ClinGen ExAC TOPMed gnomAD
CA174212446 rs772787780	8	S>F		No	ClinGen ExAC TOPMed gnomAD
rs772787780 CA4688090	8	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA370797334 rs765087352	9	P>H		No	ClinGen ExAC TOPMed gnomAD
CA4688089 rs765087352	9	P>L		No	ClinGen ExAC TOPMed gnomAD
CA174212444 rs765087352	9	P>R		No	ClinGen ExAC TOPMed gnomAD
CA4688087 CA370797325 rs776309326	10	G>R		No	ClinGen ExAC TOPMed gnomAD
CA174212437 rs201933491	11	P>L		No	ClinGen 1000Genomes gnomAD
CA4688086 rs768474918	11	P>S		No	ClinGen ExAC gnomAD
rs1315357495 COSM4138684 CA370797303	12	S>F	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA4688084 rs774551484	13	R>C		No	ClinGen ExAC gnomAD
CA370797296 rs771056447	13	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4688083 rs771056447	13	R>L		No	ClinGen ExAC TOPMed gnomAD
rs749385003 CA4688082	14	S>A		No	ClinGen ExAC gnomAD
rs777843116 CA370797263 COSM1313968	15	F>L	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1042549505 CA174212429	16	K>E		No	ClinGen TOPMed gnomAD
CA4688080 rs756612982	16	K>R		No	ClinGen ExAC TOPMed gnomAD
CA4688078 rs781462069	17	E>*		No	ClinGen ExAC TOPMed
rs1185744151 CA370797228	18	E>V		No	ClinGen gnomAD
rs1331465362 CA370797178	21	C>*		No	ClinGen TOPMed
CA370797195 rs1206022236	21	C>R		No	ClinGen gnomAD
rs1341545623 CA370797174	22	A>S		No	ClinGen gnomAD
rs1351600804 CA370797170	22	A>V		No	ClinGen TOPMed
rs886527588 CA174212418	24	C>F		No	ClinGen TOPMed
rs1226886970 CA370797110	25	Y>C		No	ClinGen gnomAD
CA4688075 rs766120297	26	D>N		No	ClinGen ExAC gnomAD
CA370797073 rs1413503544	27	P>A		No	ClinGen gnomAD
CA174212412 rs369514645	29	R>H		No	ClinGen ESP TOPMed gnomAD
rs1393683095 CA370797013	30	D>N		No	ClinGen TOPMed gnomAD
CA370797016 rs1393683095	30	D>Y		No	ClinGen TOPMed gnomAD
rs1474746099 CA370796950	34	L>P		No	ClinGen gnomAD
CA370796941 rs1252524605	35	R>C		No	ClinGen gnomAD
CA370796940 rs761701476	35	R>H		No	ClinGen ExAC gnomAD
CA4688071 rs761701476	35	R>P		No	ClinGen ExAC gnomAD
rs1252524605 CA370796944	35	R>S		No	ClinGen gnomAD
CA370796925 rs1248435349	36	C>R		No	ClinGen gnomAD
rs1195465299 CA370796916 COSM1456349	36	C>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1275245783 CA370796823	40	F>L		No	ClinGen gnomAD
CA370796793 rs1456742556	42	R>C		No	ClinGen TOPMed
rs775207348 CA4688067	43	G>W		No	ClinGen ExAC gnomAD
TCGA novel	45	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1289595737 CA370796752	46	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1444925730 CA370796742	47	R>C		No	ClinGen gnomAD
rs1444925730 CA370796744	47	R>S		No	ClinGen gnomAD
CA370796726 rs1327558862	48	C>*		No	ClinGen gnomAD
rs1429717120 CA370796698	50	E>D		No	ClinGen TOPMed
rs1586062508 CA370796688	51	V>G		No	ClinGen Ensembl
rs1563448910 CA370796693	51	V>L		No	ClinGen Ensembl
rs1586062488 CA370796668	53	V>G		No	ClinGen Ensembl
CA174212395 rs983289294	53	V>M		No	ClinGen TOPMed gnomAD
rs1460788251 CA370796648	55	P>S		No	ClinGen gnomAD
CA370796615 rs1468493556	58	P>L		No	ClinGen gnomAD
rs769898660 CA4688063	59	V>A		No	ClinGen ExAC gnomAD
TCGA novel	59	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370796600 rs1312316455	60	C>S		No	ClinGen TOPMed
CA370796595 rs1338871369	60	C>W		No	ClinGen TOPMed
CA370796586 rs1181228702	61	K>R		No	ClinGen gnomAD
rs995193521 CA370796566	63	R>C		No	ClinGen TOPMed gnomAD
rs995193521 CA174212384	63	R>G		No	ClinGen TOPMed gnomAD
CA370796564 rs1202787437	63	R>H		No	ClinGen gnomAD
rs369572943 CA4688062	64	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4688061 rs369572943	64	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs559446313 CA4688060	64	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA370796542 rs1226013472	65	S>L		No	ClinGen gnomAD
CA370796533 rs1349215086	66	P>L		No	ClinGen gnomAD
rs1372536210 CA370796505	69	L>M		No	ClinGen gnomAD
CA4688055 rs778326005	70	R>G		No	ClinGen ExAC gnomAD
CA370796493 rs1439634329	70	R>H		No	ClinGen gnomAD
rs1389132175 CA370796486	71	T>A		No	ClinGen gnomAD
CA4688054 rs756785477	71	T>I		No	ClinGen ExAC TOPMed gnomAD
CA370796471 rs1398706448	72	N>S		No	ClinGen gnomAD
rs1303807170 CA370796435	76	N>D		No	ClinGen Ensembl
rs906634895 CA174212361	76	N>S		No	ClinGen TOPMed gnomAD
rs1396890417 CA370796425	77	N>S		No	ClinGen gnomAD
CA370796419 rs1453964543	78	L>P		No	ClinGen gnomAD
rs764032258 CA4688051	79	V>A		No	ClinGen ExAC gnomAD
rs142163721 CA370796403	81	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4688050 rs142163721	81	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752521011 CA4688049	83	L>R		No	ClinGen ExAC gnomAD
CA4688048 rs767253175	84	R>C		No	ClinGen ExAC gnomAD
rs1349437466 CA370796385	84	R>H		No	ClinGen TOPMed gnomAD
rs1349437466 CA370796383	84	R>L		No	ClinGen TOPMed gnomAD
rs763134688 CA370796381	85	E>*		No	ClinGen ExAC gnomAD
rs763134688 CA4688047	85	E>K		No	ClinGen ExAC gnomAD
CA4688046 rs773456109	86	E>Q		No	ClinGen ExAC gnomAD
rs147604361 CA4688045	87	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA174212350 rs894012621	87	A>V		No	ClinGen gnomAD
CA370796358 rs1325631983	88	E>D		No	ClinGen TOPMed gnomAD
rs145238225 CA4688044	89	G>V		No	ClinGen ESP ExAC gnomAD
CA4688043 rs377318623	90	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1377388658 CA370796344	91	R>C		No	ClinGen TOPMed gnomAD
CA4688042 rs769314129	91	R>L		No	ClinGen ExAC gnomAD
rs974827238 CA370796335	92	W>*		No	ClinGen gnomAD
CA370796330 rs944402718 CA174212339	92	W>C		No	ClinGen gnomAD
CA174212342 rs974827238	92	W>S		No	ClinGen gnomAD
CA4688040 rs780612302	94	S>T		No	ClinGen ExAC TOPMed gnomAD
CA370796293 rs772530568	95	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1241835768 CA370796286	96	R>C		No	ClinGen gnomAD
CA370796284 rs1189301339	96	R>H		No	ClinGen gnomAD
CA370796260 rs1278773656	98	S>L		No	ClinGen gnomAD
CA370796261 rs1278773656	98	S>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1277334537 CA370796248	99	R>H		No	ClinGen Ensembl
CA370796246 rs1277334537	99	R>P		No	ClinGen Ensembl
rs1586062023 CA370796251	99	R>S		No	ClinGen Ensembl
CA4688034 rs753393162	101	C>S		No	ClinGen ExAC
CA4688032 rs756068122	102	R>C		No	ClinGen ExAC gnomAD
CA4688031 rs752610844	103	L>P		No	ClinGen ExAC gnomAD
CA370796191 rs1338516343	103	L>V		No	ClinGen gnomAD
rs573527374 CA4688030	104	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	104	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370796174 rs1353543341	105	R>G		No	ClinGen gnomAD
rs759373247 CA4688029	107	Q>H		No	ClinGen ExAC gnomAD
rs955229406 CA174212317	109	S>R		No	ClinGen TOPMed gnomAD
CA4688027 rs765512974	110	L>F		No	ClinGen ExAC gnomAD
CA370796067 rs1419287196	112	C>G		No	ClinGen gnomAD
CA370796063 rs1166151155	112	C>Y		No	ClinGen gnomAD
CA370796030 rs1208979180	114	E>*		No	ClinGen TOPMed
rs1563448418 CA370796022	114	E>D		No	ClinGen Ensembl
CA4688025 rs776868750	115	D>E		No	ClinGen ExAC gnomAD
CA370796018 rs1246958810	115	D>N		No	ClinGen TOPMed
rs1464753504 CA370796005	116	K>E		No	ClinGen TOPMed
rs1385611340 CA370795945	120	C>G		No	ClinGen Ensembl
CA370795939 rs1586061879	120	C>W		No	ClinGen Ensembl
rs776135309 CA4688022	121	C>R		No	ClinGen ExAC gnomAD
rs1427668034 CA370795929	121	C>Y		No	ClinGen TOPMed
rs1273402755 CA370795900	122	S>F		No	ClinGen gnomAD
CA4688020 rs746256855	122	S>T		No	ClinGen ExAC gnomAD
CA370795843 rs1224213865	126	D>Y		No	ClinGen gnomAD
CA370795832 rs1374179614	127	P>T		No	ClinGen gnomAD
CA370795819 rs1376055107	128	R>*		No	ClinGen TOPMed
rs1458837843 CA370795818	128	R>Q		No	ClinGen TOPMed
rs1321479163 CA370795806	129	H>R		No	ClinGen TOPMed
rs1003957125 CA174212297	129	H>Y		No	ClinGen Ensembl
CA370795795 rs1299925576	130	Q>H		No	ClinGen gnomAD
rs748843515 CA4688017	131	G>E		No	ClinGen ExAC gnomAD
rs1388136044 CA370795778	132	H>P		No	ClinGen TOPMed
CA174212295 rs1017223895	132	H>Q		No	ClinGen TOPMed
CA370795766 rs1326812007 COSM1098648	133	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA370795753 rs1416054396	134	V>L		No	ClinGen gnomAD
CA370795751 rs1416054396	134	V>M		No	ClinGen gnomAD
rs950748011 CA174212291	135	Q>*		No	ClinGen TOPMed
rs116161348 CA4688016	135	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755591376 CA4688015	136	P>L		No	ClinGen ExAC gnomAD
rs1420149355 CA370795729	136	P>S		No	ClinGen gnomAD
rs1483806621 CA370795703	138	K>N		No	ClinGen gnomAD
CA4688012 rs754818557	140	T>I		No	ClinGen ExAC gnomAD
CA4688010 rs139267709	141	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA174212277 rs893956370	142	H>Y		No	ClinGen TOPMed
rs1216449848 CA370795648	143	D>G		No	ClinGen gnomAD
CA370795624 rs1222194276	145	R>Q		No	ClinGen gnomAD
CA370795627 rs1303392795	145	R>W		No	ClinGen gnomAD
rs565181133 CA370813662	148	C>F		No	ClinGen 1000Genomes gnomAD
rs565181133 CA174225769	148	C>Y		No	ClinGen 1000Genomes gnomAD
CA4687977 rs375639360	149	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	150	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768017482 CA4687976	151	M>T		No	ClinGen ExAC
rs747031866 CA4687975	154	A>T		No	ClinGen ExAC gnomAD
CA4687974 rs779840181	156	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1198170891 CA370813522	156	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1275386920 CA370813484	158	K>E		No	ClinGen gnomAD
rs1212397559 CA370813464	158	K>N		No	ClinGen TOPMed gnomAD
CA4687973 rs374055302	159	A>T		No	ClinGen ESP ExAC gnomAD
CA4687972 rs745660636	160	K>E		No	ClinGen ExAC gnomAD
CA370813431 rs1457906496	160	K>R		No	ClinGen TOPMed
rs778809602 CA4687971	161	A>T		No	ClinGen ExAC gnomAD
TCGA novel	161	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4687970 rs756426331	162	F>V		No	ClinGen ExAC gnomAD
rs781373343 CA370813338	164	A>D		No	ClinGen ExAC gnomAD
CA4687969 rs752944883	164	A>S		No	ClinGen ExAC TOPMed gnomAD
CA370813345 rs752944883	164	A>T		No	ClinGen ExAC TOPMed gnomAD
rs781373343 CA4687968	164	A>V		No	ClinGen ExAC gnomAD
rs1563441819 CA370813309	165	M>T		No	ClinGen Ensembl
CA370813291 rs752168870	166	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4687966 rs752168870	166	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4687967 rs755009704	166	R>W		No	ClinGen ExAC TOPMed gnomAD
rs150850320 CA4687964	167	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4687963 rs750822853	167	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750822853 CA174225757	167	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1454839515 CA370813222	169	Y>*		No	ClinGen gnomAD
rs767258025 CA4687961	169	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA4687960 rs370409864	171	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs370409864 CA174225756	171	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1255084298 CA370813190	171	A>P		No	ClinGen gnomAD
rs768268487 CA4687959	172	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4687957 COSM1098645 rs774997405	173	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1563441735 CA370813075	176	N>S		No	ClinGen Ensembl
CA4687931 rs772995880	178	V>A		No	ClinGen ExAC gnomAD
CA370812435 rs1423633502	179	E>Q		No	ClinGen gnomAD
CA370812431 rs1586046811	179	E>V		No	ClinGen Ensembl
CA370812420 rs1189189767	181	A>T		No	ClinGen gnomAD
rs1391531560 CA370812415	182	W>R		No	ClinGen TOPMed
rs185776694 CA174224708	186	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1209021704 CA370812388	186	R>Q		No	ClinGen TOPMed gnomAD
COSM1456347 rs185776694 CA4687929	186	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA370812377 rs527549535	188	R>L		No	ClinGen ExAC TOPMed gnomAD
rs527549535 CA4687927	188	R>P		No	ClinGen ExAC TOPMed gnomAD
CA174224695 rs527549535	188	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4687928 rs780142942	188	R>W		No	ClinGen ExAC TOPMed gnomAD
CA370812374 rs1380347993	189	Q>*		No	ClinGen TOPMed
rs1385561933 CA370812372	189	Q>R		No	ClinGen gnomAD
CA370812366 rs1390526272	190	E>*		No	ClinGen gnomAD
CA4687926 rs746429043	190	E>G		No	ClinGen ExAC TOPMed gnomAD
CA370812359 rs1586046763	191	F>V		No	ClinGen Ensembl
rs369635979 CA4687925	195	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs554152967 CA4687924	195	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554152967 CA370812329	195	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1586046732 CA370812324	196	E>G		No	ClinGen Ensembl
TCGA novel	197	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1586046718 CA370812317	197	F>V		No	ClinGen Ensembl
rs1447365519 CA370812308	198	L>W		No	ClinGen gnomAD
rs1482792264 CA370812304	199	R>G		No	ClinGen TOPMed
rs767204567 CA4687919	202	E>D		No	ClinGen ExAC TOPMed gnomAD
CA370812271 rs1449947010	203	Q>R		No	ClinGen TOPMed
CA4687916 rs773943551	205	I>F		No	ClinGen ExAC gnomAD
CA4687915 rs773943551	205	I>V		No	ClinGen ExAC gnomAD
CA370812239 rs1166310471	208	A>D		No	ClinGen gnomAD
rs1166310471 CA370812240	208	A>V		No	ClinGen gnomAD
CA4687911 rs769613573	209	M>T		No	ClinGen ExAC gnomAD
CA4687912 rs772907758	209	M>V		No	ClinGen ExAC TOPMed gnomAD
CA4687910 rs775672205	210	A>G		No	ClinGen ExAC gnomAD
CA4687909 rs775672205	210	A>V		No	ClinGen ExAC gnomAD
CA4687906 rs778922429	211	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1215303205 CA370812195	215	Q>*		No	ClinGen gnomAD
CA370812162 rs1319907328	218	L>V		No	ClinGen gnomAD
CA370812154 rs1311910603	219	L>V		No	ClinGen gnomAD
CA4687902 rs756496452	220	A>V		No	ClinGen ExAC gnomAD
CA4687900 rs143834830	221	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370812118 rs1463319664	222	E>D		No	ClinGen gnomAD
rs751148307 CA4687898	222	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4687897 rs765867057	223	K>N		No	ClinGen ExAC TOPMed gnomAD
CA174224644 rs900342601	224	M>V		No	ClinGen TOPMed gnomAD
rs1400787081 CA370812072	227	L>F		No	ClinGen gnomAD
rs1311784281 CA370812067	228	T>A		No	ClinGen TOPMed
CA370812025 rs1201555843	231	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA370812009 rs1465297607	233	V>M		No	ClinGen TOPMed
rs776355971 CA4687892	234	L>M		No	ClinGen ExAC gnomAD
rs759715669 CA4687889	238	I>V		No	ClinGen ExAC gnomAD
rs771021049 CA4687887	239	E>K		No	ClinGen ExAC gnomAD
rs1238011630 COSM1489207 CA370811940	240	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA370811944 rs1288201067	240	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs149727000 CA4687884	243	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1388955163 CA370811912	243	M>T		No	ClinGen gnomAD
CA4687885 rs149727000	243	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4687882 rs781647067	245	M>I		No	ClinGen ExAC gnomAD
CA370811832 rs1347432938	247	E>D		No	ClinGen TOPMed gnomAD
rs145200366 CA174224612	249	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201505344 COSM1098644 CA174224615	249	D>N	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA4687878 rs139554946 COSM382537	250	V>I	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA4687877 rs757925142	251	S>C		No	ClinGen ExAC gnomAD
CA370811732 rs1343550219	254	M>K		No	ClinGen TOPMed
CA174223520 rs1026803017	255	K>E		No	ClinGen TOPMed gnomAD
CA4687855 rs151215946	259	R>*		No	ClinGen ESP ExAC gnomAD
rs754868241 CA4687853	259	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs753753799 CA4687852	261	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4687851 rs142245005	261	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4687849 COSM1098643 rs549826465	262	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA370810904 rs1169901315	262	R>Q		No	ClinGen gnomAD
CA4687828 rs750585907	266	T>I		No	ClinGen ExAC gnomAD
CA4687827 rs765461872	267	M>V		No	ClinGen ExAC TOPMed gnomAD
CA4687826 rs527461852	268	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1355066052 CA370810700	268	E>G		No	ClinGen gnomAD
CA4687825 rs776798583	270	E>Q		No	ClinGen ExAC gnomAD
rs1400872608 CA370810634	271	P>R		No	ClinGen gnomAD
rs370563312 CA4687824	273	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1308073104 CA370810578	274	P>T		No	ClinGen gnomAD
CA4687822 rs775964920	275	G>S		No	ClinGen ExAC TOPMed gnomAD
CA370810549 rs1321534921	275	G>V		No	ClinGen gnomAD
CA370810515 rs1194501938	276	M>I		No	ClinGen TOPMed
rs141198602 CA174223256	278	I>F		No	ClinGen 1000Genomes gnomAD
CA370810478 rs141198602	278	I>V		No	ClinGen 1000Genomes gnomAD
COSM1098642 CA4687820 rs747656839	279	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1563436993 CA370810358	284	L>P		No	ClinGen Ensembl
CA370810343 rs1478853618	285	G>C		No	ClinGen TOPMed
CA4687818 rs770504502	286	S>F		No	ClinGen ExAC gnomAD
rs1197408759 CA370810301	287	L>Q		No	ClinGen gnomAD
rs1264516076 CA370810273	288	Q>P		No	ClinGen gnomAD
CA4687816 rs777215107	290	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs199739805 CA4687815	290	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761203689 CA370810220	291	V>F		No	ClinGen ExAC TOPMed gnomAD
rs761203689 CA4687813	291	V>I		No	ClinGen ExAC TOPMed gnomAD
rs761203689 CA174223241	291	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1346902905 CA370810149	293	K>T		No	ClinGen TOPMed gnomAD
CA174223238 rs916279781	295	M>I		No	ClinGen Ensembl
rs1232234794 CA370810095	295	M>T		No	ClinGen gnomAD
CA370810056 rs1214705657	297	A>T		No	ClinGen TOPMed
TCGA novel	299	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370809917 rs1401923454	301	S>F		No	ClinGen gnomAD
CA4687787 rs752757475	304	F>I		No	ClinGen ExAC
CA4687786 rs767921863	305	S>T		No	ClinGen ExAC TOPMed gnomAD
rs778017427 CA370808803	307	D>A		No	ClinGen Ensembl
CA174222928 rs778017427	307	D>G		No	ClinGen Ensembl
rs1317271600 CA370808797	308	P>H		No	ClinGen TOPMed gnomAD
rs751950379 CA370808799	308	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4687784 rs751950379	308	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1228968832 CA370808790	309	N>I		No	ClinGen TOPMed gnomAD
CA4687783 rs200747493	309	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1228968832 CA370808792	309	N>S		No	ClinGen TOPMed gnomAD
CA174222920 rs758620985	310	T>I		No	ClinGen Ensembl
rs1586041669 CA370808788	310	T>P		No	ClinGen Ensembl
CA4687781 rs140061010	311	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146095513 CA4687780	312	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA370808745 rs560149230	317	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4687777 rs560149230	317	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370808729 rs780047474	319	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1586041602 CA370808724	320	D>A		No	ClinGen Ensembl
rs749591000 CA4687774	320	D>H		No	ClinGen ExAC gnomAD
COSM1098641 rs749591000 CA4687773	320	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM326756 CA174222905 rs935291269	322	T>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
COSM326756 CA370808713 rs1162315090	322	T>S	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs776766188 CA174222903	324	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1247230769 CA370808682	325	T>I		No	ClinGen gnomAD
CA370808691 rs1457101713	325	T>P		No	ClinGen gnomAD
rs756302157 CA4687771	327	H>R		No	ClinGen ExAC gnomAD
CA4687772 rs777862986	327	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA4687770 rs371193513	328	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4687769 COSM1552523 rs781291466	330	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA174222899 rs779126497	330	R>H		No	ClinGen gnomAD
CA174222897 rs982753049	331	V>L		No	ClinGen TOPMed gnomAD
CA174222895 rs982753049	331	V>M		No	ClinGen TOPMed gnomAD
rs758754920 CA4687765	333	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4687766 rs758754920	333	V>M		No	ClinGen ExAC TOPMed gnomAD
rs764806703 CA4687763	336	P>A		No	ClinGen ExAC TOPMed gnomAD
CA4687762 rs761490206	336	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4687760 rs763641371	337	E>K		No	ClinGen ExAC gnomAD
rs760754715 CA4687759	338	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4687758 rs775565401	338	R>H		No	ClinGen ExAC gnomAD
CA174222885 rs963095336	340	S>C		No	ClinGen TOPMed
CA4687757 rs772068039	341	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1563436213 CA370808470	342	A>P		No	ClinGen Ensembl
rs774146159 CA4687755	342	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	344	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1316726970 CA370808406	347	G>V		No	ClinGen gnomAD
rs748368431 CA4687752 COSM1456346	349	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA370808388 rs1221271809	349	R>H		No	ClinGen gnomAD
rs1442679071 CA370808364	351	F>C		No	ClinGen TOPMed
CA174222872 rs768630421	353	Q>*		No	ClinGen TOPMed gnomAD
CA174222873 rs768630421	353	Q>K		No	ClinGen TOPMed gnomAD
rs150903051 CA4687751	354	G>S		No	ClinGen ESP ExAC TOPMed
rs755033934 CA4687750	355	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	356	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs544322429 CA4687746	357	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs544322429 CA4687747	357	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA370808289 rs1418755114	357	A>V		No	ClinGen gnomAD
CA174222860 rs893462780	358	W>*		No	ClinGen Ensembl
rs1359361502 CA370808284	358	W>R		No	ClinGen gnomAD
rs1253785272 CA370808256	360	V>G		No	ClinGen TOPMed
CA370808239 rs1178040119	362	L>F		No	ClinGen gnomAD
CA370808224 rs576535227	363	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs576535227 CA4687745	363	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs756911180 CA4687744	368	W>*		No	ClinGen ExAC gnomAD
rs1478199974 CA370808113	370	V>A		No	ClinGen gnomAD
CA370808124 rs1199954818	370	V>L		No	ClinGen Ensembl
CA4687742 rs141555387	371	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA370808082 rs775082529	372	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4687740 rs775082529	372	V>M		No	ClinGen ExAC TOPMed gnomAD
CA370808055 rs1288145107	373	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4687739 rs148377716	374	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs746780941 CA4687738	374	R>H		No	ClinGen ExAC gnomAD
CA4687737 rs774054598	376	R>C		No	ClinGen ExAC TOPMed gnomAD
rs770736526 CA4687736	376	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770736526 CA174222850	376	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4687735 rs748375413	379	S>L		No	ClinGen ExAC TOPMed gnomAD
CA370807893 rs747100993	381	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4687732 rs747100993	381	A>T		No	ClinGen ExAC TOPMed gnomAD
rs137997329 CA4687731	381	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs758948766 CA4687730	383	G>D		No	ClinGen ExAC gnomAD
CA370807851 rs1464372695	383	G>S	Variant assessed as Somatic; 4.678e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA370807808 rs1435694828	385	S>L		No	ClinGen gnomAD
CA370807794 rs1376230527	386	H>Y		No	ClinGen TOPMed
rs1427990158 CA370807702	389	Y>C		No	ClinGen gnomAD
CA370807684 rs1346766632	390	H>L		No	ClinGen gnomAD
rs1288225895 CA370807664	391	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4687725 rs377511988	393	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4687724 rs777582053	393	R>H		No	ClinGen ExAC TOPMed gnomAD
CA370807633 rs777582053	393	R>P		No	ClinGen ExAC TOPMed gnomAD
rs766380938 CA4687723	394	S>L		No	ClinGen ExAC TOPMed gnomAD
CA370807569 rs1320694740	398	Y>C		No	ClinGen gnomAD
CA370807574 rs1586041213	398	Y>H		No	ClinGen Ensembl
rs374227978 CA4687720	399	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs766151418 CA4687718	400	C>G		No	ClinGen ExAC TOPMed gnomAD
rs931871074 CA174222816	400	C>Y		No	ClinGen TOPMed gnomAD
rs377763568 CA4687716	401	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs760859895 CA4687715	401	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760859895 CA4687714	401	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4687713 rs577124602	402	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs146964532 CA4687712	402	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs146964532 CA370807487	402	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1172026712 CA370807470	403	Q>R		No	ClinGen TOPMed
rs148875535 CA4687710	405	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	408	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA174222800 rs983012078	409	H>N		No	ClinGen TOPMed
CA4687708 rs749685335	409	H>R		No	ClinGen ExAC gnomAD
rs778243522 CA4687707	410	C>R		No	ClinGen ExAC gnomAD
rs755871025 CA4687706	411	V>M		No	ClinGen ExAC TOPMed gnomAD
CA370807244 rs1358691103	412	T>I		No	ClinGen Ensembl
CA4687704 rs373434031	413	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs750965412 CA4687702	414	D>E		No	ClinGen ExAC gnomAD
rs1241953438 CA370807124	417	T>M		No	ClinGen gnomAD
rs766348852 CA4687701	418	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1374307466 CA370807069	419	P>L		No	ClinGen gnomAD
TCGA novel	421	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377746796 CA370807041	422	L>M		No	ClinGen TOPMed
rs1586041073 CA370807020	423	A>P		No	ClinGen Ensembl
CA370807002 rs1328136827	423	A>V		No	ClinGen gnomAD
rs1392765990 CA370806961	425	P>S		No	ClinGen gnomAD
CA370806942 rs1295424309	426	R>C		No	ClinGen gnomAD
rs1422821170 CA370806939	426	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs533921646 CA4687698	427	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4687697 rs760947998 COSM1230320	427	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA370806912 rs760947998	427	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1586041030 CA370806907	428	L>V		No	ClinGen Ensembl
rs1362379210 CA370806884	429	R>C		No	ClinGen TOPMed gnomAD
CA174222763 rs1032407682	429	R>H		No	ClinGen gnomAD
CA4687695 rs199652032	430	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs771501390 CA4687692	433	E>D		No	ClinGen ExAC gnomAD
rs1490024152 CA370806746	433	E>Q		No	ClinGen gnomAD
rs1247677617 CA370806711	434	C>R		No	ClinGen gnomAD
rs1241806398 COSM1456345 CA370806689	434	C>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA370806659 rs1168346838	435	E>A		No	ClinGen TOPMed
CA4687690 rs773759764	436	E>K		No	ClinGen ExAC gnomAD
CA4687689 rs770269341	437	G>C		No	ClinGen ExAC gnomAD
CA370806612 rs770269341	437	G>S		No	ClinGen ExAC gnomAD
rs780992660 COSM1268531 CA4687687	438	E>K	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1299069340 CA370806545	441	F>V		No	ClinGen gnomAD
CA4687685 rs746549053	441	F>Y		No	ClinGen ExAC gnomAD
rs779389279 CA4687684	442	Y>C		No	ClinGen ExAC gnomAD
CA370806498 rs1339952022	444	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1478557177 CA370806489	444	A>V		No	ClinGen TOPMed gnomAD
COSM1456344 rs886949517 CA174222744	446	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs765088471 CA4687681	446	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	448	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370806429 rs1272188462	449	H>Y		No	ClinGen TOPMed
rs767802318 CA4687678	451	Y>C		No	ClinGen ExAC gnomAD
CA4687677 rs143548752	452	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1363903898 CA370806387	452	T>N		No	ClinGen gnomAD
COSM1456343 rs766345697 CA4687675	455	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA370806349 rs1341015065	455	A>V		No	ClinGen gnomAD
rs147372571 CA4687674	456	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA174222734 rs761521091	456	R>H		No	ClinGen TOPMed gnomAD
CA174222737 rs761521091	456	R>L		No	ClinGen TOPMed gnomAD
CA174222732 rs937370565	457	F>I		No	ClinGen Ensembl
CA370806293 rs1404743019	460	V>I		No	ClinGen TOPMed gnomAD
CA4687672 rs770357144	461	R>C		No	ClinGen ExAC TOPMed gnomAD
rs748533193 CA4687671	461	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs777083260 CA4687670	462	P>L		No	ClinGen ExAC gnomAD
rs369310263 CA174222727	462	P>S		No	ClinGen ESP TOPMed gnomAD
rs1474101261 CA370806266	463	Y>C		No	ClinGen gnomAD
rs768383163 CA4687669	465	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs768383163 CA370806249	465	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA4687666 rs144341265	468	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	468	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	469	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199649028 CA4687664	469	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	470	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370806222 rs1337467786	470	R>Q		No	ClinGen TOPMed gnomAD
rs757138493 CA4687663	470	R>W		No	ClinGen ExAC gnomAD
rs1269853646 CA370806218	471	G>D		No	ClinGen TOPMed gnomAD
CA4687661 rs144761656	472	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4687658 rs766547146	473	G>E		No	ClinGen ExAC TOPMed gnomAD
CA4687659 rs139952743	473	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs763129764 CA4687657	474	P>L		No	ClinGen ExAC gnomAD
CA370806196 rs1418111383	475	P>L		No	ClinGen gnomAD
rs1163297443 CA370806187	477	P>T		No	ClinGen gnomAD
CA370806177 rs1464010638	478	L>W		No	ClinGen TOPMed
rs773363494 CA4687656	479	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4687655 rs765858051 COSM1456342	479	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs765858051 CA370806171	479	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4687654 rs202146006	480	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4687653 rs777090174	482	P>A		No	ClinGen ExAC gnomAD
CA370806156 rs777090174	482	P>S		No	ClinGen ExAC gnomAD
CA370806136 rs768308708	485	I>L		No	ClinGen TOPMed gnomAD
CA174222709 rs770115119	485	I>M		No	ClinGen gnomAD
rs768308708 CA174222711	485	I>V		No	ClinGen TOPMed gnomAD
rs760445599 CA4687651	486	S>G		No	ClinGen ExAC gnomAD
rs1313103099 CA370806126	486	S>R		No	ClinGen TOPMed gnomAD
rs546952156 CA4687650	487	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370806124 rs546952156	487	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370806111 rs1378043857	489	E>K		No	ClinGen gnomAD
CA4687649 rs771701408	490	E>*		No	ClinGen ExAC gnomAD
CA4687648 rs745405843	491	L>M		No	ClinGen ExAC gnomAD
CA4687647 rs778354347	492	D>G		No	ClinGen ExAC gnomAD

No associated diseases with Q9UPQ4

9 regional properties for Q9UPQ4

Type	Name	Position	InterPro Accession
domain	B-box-type zinc finger	96 - 137	IPR000315
domain	Zinc finger, RING-type	21 - 61	IPR001841
domain	B30.2/SPRY domain	284 - 487	IPR001870
domain	SPRY domain	353 - 484	IPR003877
domain	Butyrophylin-like, SPRY domain	300 - 317	IPR003879-1
domain	Butyrophylin-like, SPRY domain	338 - 362	IPR003879-2
domain	Butyrophylin-like, SPRY domain	419 - 443	IPR003879-3
domain	SPRY-associated	301 - 352	IPR006574
conserved_site	Zinc finger, RING-type, conserved site	36 - 45	IPR017907

Functions

		Description
EC Number	2.3.2.27	Aminoacyltransferases
Subcellular Localization	Cytoplasm Nucleus	Found predominantly in cytoplasm with a granular distribution Found in punctuate nuclear bodies (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

2 GO annotations of molecular function

Name	Definition
ubiquitin protein ligase activity	Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues.
zinc ion binding	Binding to a zinc ion (Zn).

6 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
negative regulation of mitotic cell cycle	Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle.
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.
suppression of viral release by host	A process in which a host organism stops, prevents or reduces the frequency, rate or extent of the release of a virus with which it is infected, from its cells.

49 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5E9G4	TRIM10	Tripartite motif-containing protein 10	Bos taurus (Bovine)	PR
Q2T9Z0	TRIM17	E3 ubiquitin-protein ligase TRIM17	Bos taurus (Bovine)	PR
E1BJS7	TRIM71	E3 ubiquitin-protein ligase TRIM71	Bos taurus (Bovine)	PR
Q7YRV4	TRIM21	E3 ubiquitin-protein ligase TRIM21	Bos taurus (Bovine)	PR
Q1PRL4	TRIM71	E3 ubiquitin-protein ligase TRIM71	Gallus gallus (Chicken)	PR
Q7YR32	TRIM10	Tripartite motif-containing protein 10	Pan troglodytes (Chimpanzee)	PR
Q9BTV5	FSD1	Fibronectin type III and SPRY domain-containing protein 1	Homo sapiens (Human)	PR
Q9UJV3	MID2	Probable E3 ubiquitin-protein ligase MID2	Homo sapiens (Human)	PR
P29590	PML	Protein PML	Homo sapiens (Human)	PR
Q9NQ86	TRIM36	E3 ubiquitin-protein ligase TRIM36	Homo sapiens (Human)	PR
Q86UV6	TRIM74	Tripartite motif-containing protein 74	Homo sapiens (Human)	PR
Q2Q1W2	TRIM71	E3 ubiquitin-protein ligase TRIM71	Homo sapiens (Human)	PR
Q9BXM9	FSD1L	FSD1-like protein	Homo sapiens (Human)	PR
Q9H2S5	RNF39	RING finger protein 39	Homo sapiens (Human)	PR
Q86UV7	TRIM73	Tripartite motif-containing protein 73	Homo sapiens (Human)	PR
Q86XT4	TRIM50	E3 ubiquitin-protein ligase TRIM50	Homo sapiens (Human)	PR
Q6ZMU5	TRIM72	Tripartite motif-containing protein 72	Homo sapiens (Human)	PR
Q9BZY9	TRIM31	E3 ubiquitin-protein ligase TRIM31	Homo sapiens (Human)	PR
Q9C029	TRIM7	E3 ubiquitin-protein ligase TRIM7	Homo sapiens (Human)	PR
O15553	MEFV	Pyrin	Homo sapiens (Human)	SS
A6NCK2	TRIM43B	Tripartite motif-containing protein 43B	Homo sapiens (Human)	PR
Q8N9V2	TRIML1	Probable E3 ubiquitin-protein ligase TRIML1	Homo sapiens (Human)	PR
P19474	TRIM21	E3 ubiquitin-protein ligase TRIM21	Homo sapiens (Human)	PR
Q14142	TRIM14	Tripartite motif-containing protein 14	Homo sapiens (Human)	PR
A6NK02	TRIM75	Tripartite motif-containing protein 75	Homo sapiens (Human)	PR
Q5EBN2	TRIM61	Putative tripartite motif-containing protein 61	Homo sapiens (Human)	PR
Q9WUH5	Trim10	Tripartite motif-containing protein 10	Mus musculus (Mouse)	PR
Q8BZT2	Sh3rf2	E3 ubiquitin-protein ligase SH3RF2	Mus musculus (Mouse)	PR
Q7TPM3	Trim17	E3 ubiquitin-protein ligase TRIM17	Mus musculus (Mouse)	PR
Q1XH17	Trim72	Tripartite motif-containing protein 72	Mus musculus (Mouse)	PR
Q60953	Pml	Protein PML	Mus musculus (Mouse)	PR
Q9JJ26	Mefv	Pyrin	Mus musculus (Mouse)	SS
Q99PQ1	Trim12a	Tripartite motif-containing protein 12A	Mus musculus (Mouse)	PR
Q61510	Trim25	E3 ubiquitin/ISG15 ligase TRIM25	Mus musculus (Mouse)	PR
Q810I2	Trim50	E3 ubiquitin-protein ligase TRIM50	Mus musculus (Mouse)	PR
Q1PSW8	Trim71	E3 ubiquitin-protein ligase TRIM71	Mus musculus (Mouse)	PR
Q3TL54	Trim43a	Tripartite motif-containing protein 43A	Mus musculus (Mouse)	PR
P86449	Trim43c	Tripartite motif-containing protein 43C	Mus musculus (Mouse)	PR
O77666	TRIM26	Tripartite motif-containing protein 26	Sus scrofa (Pig)	PR
O19085	TRIM10	Tripartite motif-containing protein 10	Sus scrofa (Pig)	PR
Q865W2	TRIM50	E3 ubiquitin-protein ligase TRIM50	Sus scrofa (Pig)	PR
Q920M2	Rnf39	RING finger protein 39	Rattus norvegicus (Rat)	PR
Q9JJ25	Mefv	Pyrin	Rattus norvegicus (Rat)	SS
A0JPQ4	Trim72	Tripartite motif-containing protein 72	Rattus norvegicus (Rat)	PR
Q810I1	Trim50	E3 ubiquitin-protein ligase TRIM50	Rattus norvegicus (Rat)	PR
D3ZVM4	Trim71	E3 ubiquitin-protein ligase TRIM71	Rattus norvegicus (Rat)	PR
F6QEU4	trim71	E3 ubiquitin-protein ligase TRIM71	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q640S6	trim72	Tripartite motif-containing protein 72	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
E7FAM5	trim71	E3 ubiquitin-protein ligase TRIM71	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MERSPDVSPG	PSRSFKEELL	CAVCYDPFRD	AVTLRCGHNF	CRGCVSRCWE	VQVSPTCPVC
70	80	90	100	110	120
KDRASPADLR	TNHTLNNLVE	KLLREEAEGA	RWTSYRFSRV	CRLHRGQLSL	FCLEDKELLC
130	140	150	160	170	180
CSCQADPRHQ	GHRVQPVKDT	AHDFRAKCRN	MEHALREKAK	AFWAMRRSYE	AIAKHNQVEA
190	200	210	220	230	240
AWLEGRIRQE	FDKLREFLRV	EEQAILDAMA	EETRQKQLLA	DEKMKQLTEE	TEVLAHEIER
250	260	270	280	290	300
LQMEMKEDDV	SFLMKHKSRK	RRLFCTMEPE	PVQPGMLIDV	CKYLGSLQYR	VWKKMLASVE
310	320	330	340	350	360
SVPFSFDPNT	AAGWLSVSDD	LTSVTNHGYR	VQVENPERFS	SAPCLLGSRV	FSQGSHAWEV
370	380	390	400	410	420
ALGGLQSWRV	GVVRVRQDSG	AEGHSHSCYH	DTRSGFWYVC	RTQGVEGDHC	VTSDPATSPL
430	440	450	460	470	480
VLAIPRRLRV	ELECEEGELS	FYDAERHCHL	YTFHARFGEV	RPYFYLGGAR	GAGPPEPLRI
490
CPLHISVKEE	LDG