AiPD: Autoinhibited Protein Database

Q9Y468

Gene name	L3MBTL1 (KIAA0681, L3MBT, L3MBTL)
Protein name	Lethal(3)malignant brain tumor-like protein 1
Names	H-l(3)mbt, H-l(3)mbt protein, L(3)mbt-like, L(3)mbt protein homolog, L3MBTL1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26013
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

564-646 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

564-646 (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

21 structures for Q9Y468

Entry ID	Method	Resolution	Chain	Position	Source
1OYX	X-ray	185 A	A/B/C	265-595	PDB
1OZ2	X-ray	155 A	A	265-595	PDB
1OZ3	X-ray	185 A	A/B/C	265-595	PDB
2PQW	X-ray	200 A	A	268-590	PDB
2RHI	X-ray	166 A	A	265-594	PDB
2RHU	X-ray	190 A	A	274-587	PDB
2RHX	X-ray	210 A	A	265-594	PDB
2RHY	X-ray	190 A	A	274-587	PDB
2RHZ	X-ray	220 A	A	274-587	PDB
2RI2	X-ray	220 A	A	274-587	PDB
2RI3	X-ray	200 A	A	274-587	PDB
2RI5	X-ray	200 A	A	274-587	PDB
2RJC	X-ray	200 A	A/B/C	268-598	PDB
2RJD	X-ray	165 A	A	268-598	PDB
2RJE	X-ray	186 A	A/B/C	268-598	PDB
2RJF	X-ray	205 A	A/C/E	268-598	PDB
3OQ5	X-ray	250 A	A/B/C	259-598	PDB
3P8H	X-ray	255 A	A/B/C	268-590	PDB
3UWN	X-ray	215 A	A	268-598	PDB
6BYB	X-ray	174 A	A	200-522	PDB
AF-Q9Y468-F1	Predicted				AlphaFoldDB

644 variants for Q9Y468

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs2019606024 RCV001267445	659	E>*	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs1276567479 CA409074202	4	V>E		No	ClinGen gnomAD
rs749397915 CA9865340	5	A>T		No	ClinGen ExAC gnomAD
rs144538397 CA9865341	6	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs961790914 CA409074221	7	D>E		No	ClinGen TOPMed gnomAD
CA409074235 rs1244292576	9	P>R		No	ClinGen gnomAD
rs1190141402 CA409074233	9	P>S		No	ClinGen gnomAD
rs1367812803 CA409074238	10	G>R		No	ClinGen TOPMed gnomAD
rs1367812803 CA409074237	10	G>S		No	ClinGen TOPMed gnomAD
CA314578964 rs199657419	11	S>C		No	ClinGen gnomAD
CA9865342 rs549925659	12	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA409074256 rs1568916972	13	P>H		No	ClinGen Ensembl
CA409074267 rs1171650822	15	L>M		No	ClinGen TOPMed gnomAD
CA409074271 rs1367763896	15	L>R		No	ClinGen TOPMed
CA409074278 COSM403397 rs1397260921	17	A>T	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA409074292 rs1336884306	19	A>T		No	ClinGen gnomAD
CA409074362 rs1600890814	28	T>P		No	ClinGen Ensembl
CA409074375 rs776041364	30	G>C		No	ClinGen ExAC TOPMed gnomAD
CA9865349 rs776041364	30	G>S		No	ClinGen ExAC TOPMed gnomAD
CA409074388 rs1224128612	32	P>L		No	ClinGen TOPMed
CA314579000 rs896363481	32	P>S		No	ClinGen TOPMed gnomAD
rs1328595104 CA409074392	33	S>N		No	ClinGen TOPMed gnomAD
CA409074414 rs1281559137	36	L>P		No	ClinGen TOPMed
rs1404542924 CA409074423	37	D>E		No	ClinGen TOPMed
CA409074416 rs1207309675	37	D>N		No	ClinGen gnomAD
rs1270566418 CA409074455	42	P>L		No	ClinGen gnomAD
rs766217043 CA314579002	43	R>G		No	ClinGen ExAC TOPMed gnomAD
CA314579006 rs1044971953	43	R>Q		No	ClinGen TOPMed gnomAD
CA9865350 rs766217043	43	R>W		No	ClinGen ExAC TOPMed gnomAD
rs751561871 CA9865351	44	E>K		No	ClinGen ExAC gnomAD
CA409074484 rs1199722749	47	H>R		No	ClinGen TOPMed gnomAD
CA314579011 rs996195146	50	A>V		No	ClinGen TOPMed gnomAD
CA314579014 rs968128994	51	P>L		No	ClinGen TOPMed gnomAD
CA409074530 rs1345701549	54	V>A		No	ClinGen gnomAD
CA409074531 rs1345701549	54	V>G		No	ClinGen gnomAD
CA314579018 rs866933116	55	A>V		No	ClinGen Ensembl
rs1015958910 CA314579021	56	G>S		No	ClinGen TOPMed gnomAD
rs897464265 CA409074549	57	C>W		No	ClinGen TOPMed gnomAD
rs1204887107 CA409074550	58	E>K		No	ClinGen TOPMed
CA409074575 rs1303984584	61	S>F		No	ClinGen gnomAD
rs1350170512 CA409074579	62	A>D		No	ClinGen gnomAD
rs1600891087 CA409074582	63	T>P		No	ClinGen Ensembl
CA409074590 rs1309304654	64	V>F		No	ClinGen gnomAD
rs1309304654 CA409074588	64	V>I		No	ClinGen gnomAD
rs1318015358 CA409074596	65	L>Q		No	ClinGen gnomAD
rs1223052626 CA409074602	66	P>R		No	ClinGen TOPMed
rs1568917177 CA409074611	67	Q>H		No	ClinGen Ensembl
CA314579030 rs993283585	68	L>I		No	ClinGen TOPMed
rs537108821 CA314579032	68	L>P		No	ClinGen 1000Genomes TOPMed gnomAD
CA314579034 COSM4134564 rs1031204104 CA409074623	69	S>R	thyroid [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1453250531 CA409074624	70	A>T		No	ClinGen TOPMed
rs961158610 CA314579036	71	G>R		No	ClinGen TOPMed gnomAD
CA409074639 rs992447163	72	P>L		No	ClinGen TOPMed gnomAD
CA314579038 rs992447163	72	P>R		No	ClinGen TOPMed gnomAD
rs1162627906 CA409074652	74	S>R		No	ClinGen gnomAD
CA9865355 rs756346280	76	S>T		No	ClinGen ExAC gnomAD
rs1307241855 CA409074668	77	T>A		No	ClinGen gnomAD
rs368609216 CA314579041	77	T>N		No	ClinGen TOPMed gnomAD
CA9865356 rs778143381	79	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1299923746 CA409074684	79	T>I		No	ClinGen gnomAD
rs1299923746 CA409074683	79	T>R		No	ClinGen gnomAD
CA409074685 rs1374174343	80	V>L		No	ClinGen gnomAD
CA409074692 rs1486235683	81	R>W		No	ClinGen TOPMed
rs979412275 CA314579046	82	L>F		No	ClinGen TOPMed gnomAD
CA314579049 rs916818457	83	L>P		No	ClinGen gnomAD
rs191412377 CA314579051	84	E>V		No	ClinGen 1000Genomes
rs1344978594 CA409074720	85	W>C		No	ClinGen TOPMed gnomAD
rs1568917243 CA409074714	85	W>G		No	ClinGen Ensembl
CA409074723 rs1339601825	86	T>P		No	ClinGen gnomAD
CA314579058 rs956037571	87	E>*		No	ClinGen TOPMed
CA409074738 rs1232906584	88	A>V		No	ClinGen TOPMed gnomAD
rs1179671414 CA409074740	89	A>T		No	ClinGen gnomAD
rs973711456 CA314579062	89	A>V		No	ClinGen TOPMed gnomAD
rs1600891381 CA409074746	90	A>P		No	ClinGen Ensembl
rs1445213957 CA409074756	91	P>L		No	ClinGen TOPMed gnomAD
rs1388122639 CA409074759	92	P>S		No	ClinGen gnomAD
rs576903477 CA314579066	93	P>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA9865358 rs749323849	94	G>E		No	ClinGen ExAC gnomAD
rs912418918 CA314579075	96	G>D		No	ClinGen Ensembl
rs1385590060 CA409074780	96	G>S		No	ClinGen gnomAD
CA409074790 rs1297277258	98	R>Q		No	ClinGen gnomAD
CA9865359 rs761102663	98	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1289167564 CA409074988	99	F>L		No	ClinGen gnomAD
rs1248435065 CA409074993	99	F>L		No	ClinGen gnomAD
rs758534876 CA9865399	100	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs750500624 CA9865398	100	R>W		No	ClinGen ExAC gnomAD
rs780521704 CA9865400	103	E>K		No	ClinGen ExAC gnomAD
rs747559167 CA9865401	104	Y>S		No	ClinGen ExAC gnomAD
CA409075030 rs1185778399	105	K>T		No	ClinGen gnomAD
rs1428653395 CA409075043	107	L>P		No	ClinGen gnomAD
CA9865402 rs375102806	110	A>V		No	ClinGen ExAC gnomAD
rs781567395 CA9865403	111	G>A		No	ClinGen ExAC gnomAD
CA314579364 rs957072226	112	V>G		No	ClinGen Ensembl
CA409075073 rs1338592124	112	V>M		No	ClinGen gnomAD
CA409075087 rs1469038811	114	Q>K		No	ClinGen TOPMed gnomAD
rs921138180 CA314579367	115	P>S		No	ClinGen Ensembl
rs921138180 CA409075094	115	P>T		No	ClinGen Ensembl
CA9865404 rs748473301	116	P>L		No	ClinGen ExAC TOPMed gnomAD
CA409075101 rs1315414042	116	P>S		No	ClinGen gnomAD
rs17857202 CA9865405	117	S>N		No	ClinGen ExAC gnomAD
rs17857202 VAR_051097 CA314579371	117	S>T		No	ClinGen UniProt ExAC dbSNP gnomAD
rs1249830783 CA409075110	118	P>T		No	ClinGen TOPMed gnomAD
CA409075121 rs1362140060	119	E>D		No	ClinGen TOPMed
CA9865407 rs369771334	119	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs559279994 CA314579380	121	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
rs1161853602 CA409075129	121	R>W		No	ClinGen TOPMed gnomAD
CA409075153 rs1309929730	124	G>V		No	ClinGen gnomAD
CA9865409 rs775536659	125	V>M		No	ClinGen ExAC gnomAD
rs1459890128 CA409075160	126	T>A		No	ClinGen TOPMed
rs1170224934 CA409075163	126	T>S		No	ClinGen Ensembl
rs760642328 CA9865410	127	E>G		No	ClinGen ExAC gnomAD
rs1374424882 CA409075165	127	E>K		No	ClinGen gnomAD
rs1171436924 CA409075173	128	Y>H		No	ClinGen gnomAD
rs1164097346 CA409075186	129	E>D		No	ClinGen TOPMed
rs763952190 CA9865411	129	E>K		No	ClinGen ExAC
CA314579397 rs201702857	132	G>E		No	ClinGen 1000Genomes gnomAD
rs1403290850 CA409075202 CA409075201	132	G>R		No	ClinGen gnomAD
rs1403290850 CA409075203	132	G>W		No	ClinGen gnomAD
CA409075210 rs1387901959	133	A>G		No	ClinGen gnomAD
rs776423481 CA9865413	134	P>L		No	ClinGen ExAC gnomAD
rs776423481 CA409075215	134	P>Q		No	ClinGen ExAC gnomAD
rs776423481 CA409075216	134	P>R		No	ClinGen ExAC gnomAD
CA409075238 rs1274284658	138	G>R		No	ClinGen TOPMed gnomAD
CA9865417 rs193121965	139	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1464892045 CA409075259	141	G>D		No	ClinGen TOPMed gnomAD
CA9865418 rs200467755	142	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1426502472 CA409075283	145	A>T		No	ClinGen gnomAD
rs1379560692 CA409075291	146	E>*		No	ClinGen TOPMed gnomAD
CA409075326 rs1361103516	149	P>H		No	ClinGen TOPMed gnomAD
CA9865441 rs753192453	149	P>S		No	ClinGen ExAC gnomAD
rs1450311242 CA409075330	150	Q>*		No	ClinGen gnomAD
CA9865444 rs778243168	150	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs778243168 CA9865443	150	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1479375736 CA409075348	152	P>H		No	ClinGen gnomAD
CA409075347 rs1479375736	152	P>L		No	ClinGen gnomAD
CA9865445 rs758058714	153	P>L		No	ClinGen ExAC gnomAD
rs1600895150 CA409075349	153	P>T		No	ClinGen Ensembl
rs528474572 CA9865446	155	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9865447 rs201310287	155	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1193908864 CA409075380	157	N>K		No	ClinGen TOPMed
rs1568918092 CA409075376	157	N>Y		No	ClinGen Ensembl
rs768103321 CA9865448	158	Q>K		No	ClinGen ExAC gnomAD
rs1004913713 CA314579599	159	D>N		No	ClinGen TOPMed gnomAD
CA314579608 rs891997399	160	P>S		No	ClinGen TOPMed gnomAD
CA9865451 rs145308329	161	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1226637873 CA409075411	162	E>V		No	ClinGen TOPMed
CA9865453 rs772930755	163	D>N		No	ClinGen ExAC TOPMed gnomAD
CA409075424 rs1385455148	164	D>A		No	ClinGen gnomAD
rs762738164 CA9865454	166	T>I		No	ClinGen ExAC TOPMed gnomAD
rs762738164 CA409075440	166	T>N		No	ClinGen ExAC TOPMed gnomAD
CA409075451 rs1338795244	168	Q>E		No	ClinGen TOPMed
CA9865456 rs774612632	168	Q>H		No	ClinGen ExAC gnomAD
rs151004462 CA9865455	168	Q>R		No	ClinGen ESP ExAC gnomAD
rs139481375 CA9865458	169	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs139481375 CA9865457	169	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA9865459 rs752853664	171	A>E		No	ClinGen ExAC gnomAD
rs752853664 CA409075474	171	A>V		No	ClinGen ExAC gnomAD
CA409075483 rs1244671075	173	G>R		No	ClinGen gnomAD
CA409075490 rs1403585444	174	P>S		No	ClinGen TOPMed
rs764703865 CA9865461	176	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA409075513 rs1170849634	177	A>V		No	ClinGen TOPMed
rs1478588605 CA409075518	178	A>S		No	ClinGen TOPMed
CA409075517 rs1478588605 COSM162082	178	A>T	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
rs754252769 CA9865462	178	A>V		No	ClinGen ExAC TOPMed gnomAD
CA314579647 rs898477599	179	G>A		No	ClinGen TOPMed gnomAD
rs1478578564 CA409075521	179	G>S		No	ClinGen TOPMed
CA409075527 rs1427001307	180	P>A		No	ClinGen gnomAD
rs757756334 CA9865463	183	G>V		No	ClinGen ExAC gnomAD
rs1469687596 CA409075555	184	S>F		No	ClinGen gnomAD
rs779833134 CA9865464	184	S>P		No	ClinGen ExAC gnomAD
CA9865465 rs374255054	185	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9865467 rs531085763	187	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA314579656 rs777594692	187	D>H		No	ClinGen Ensembl
CA9865466 rs531085763	187	D>V		No	ClinGen 1000Genomes ExAC gnomAD
rs747703276 CA9865468	188	G>A		No	ClinGen ExAC gnomAD
rs747703276 CA314579668	188	G>V		No	ClinGen ExAC gnomAD
rs368664102 CA9865469	189	C>R		No	ClinGen ESP ExAC gnomAD
CA314579674 rs999940470	190	P>L		No	ClinGen Ensembl
rs777752080 CA9865470	190	P>S		No	ClinGen ExAC gnomAD
rs149664498 CA9865471	191	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409075619 rs1461749051	195	E>K		No	ClinGen gnomAD
rs759637086 CA9865474	196	R>L		No	ClinGen ExAC gnomAD
CA9865473 rs774524586	196	R>W		No	ClinGen ExAC TOPMed gnomAD
rs145435727 RCV000889004 CA9865495	198	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA314579774 rs145435727	198	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1304390817 CA409075654	199	I>M		No	ClinGen gnomAD
CA9865496 rs768899273	199	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9865497 rs776885081	200	V>L		No	ClinGen ExAC gnomAD
rs1441318620 CA409075662	201	E>K		No	ClinGen gnomAD
rs762364128 CA9865498	202	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1375526286 CA409075680	203	S>F		No	ClinGen TOPMed gnomAD
rs950235582 CA409075684	204	S>*		No	ClinGen TOPMed gnomAD
rs950235582 CA314579784	204	S>L		No	ClinGen TOPMed gnomAD
CA314579788 rs8183462	206	S>A		No	ClinGen gnomAD
rs8183462 CA409075693	206	S>P		No	ClinGen gnomAD
CA409075707 rs1466220664	208	S>T		No	ClinGen TOPMed
CA9865502 rs767060691	209	A>S		No	ClinGen ExAC gnomAD
CA409075722 rs1471471499	211	E>K		No	ClinGen TOPMed gnomAD
CA409075733 rs1385039978	212	L>R		No	ClinGen gnomAD
rs755588947 CA409075751	215	P>A		No	ClinGen ExAC gnomAD
rs755588947 CA9865504	215	P>S		No	ClinGen ExAC gnomAD
rs1408857315 CA409075759	216	M>R		No	ClinGen TOPMed gnomAD
CA9865505 rs763554403	216	M>V		No	ClinGen ExAC TOPMed gnomAD
rs901443136 CA314579811	217	K>N		No	ClinGen Ensembl
CA314579814 rs866844197	219	R>M		No	ClinGen Ensembl
CA314579820 rs927470679	220	K>N		No	ClinGen TOPMed
CA409075792 rs1326323686	221	R>C		No	ClinGen gnomAD
CA409075791 rs1326323686	221	R>G		No	ClinGen gnomAD
CA409075796 rs1356180893	221	R>L		No	ClinGen gnomAD
rs1314054724 CA409075824	225	Q>R		No	ClinGen TOPMed gnomAD
CA409075835 rs1247978299	226	S>R		No	ClinGen gnomAD
CA409075840 rs1317425430	227	P>L		No	ClinGen gnomAD
rs997062063 CA314579829	228	S>*		No	ClinGen Ensembl
CA409075875 rs778976608	232	S>L		No	ClinGen ExAC TOPMed gnomAD
CA9865509 rs778976608	232	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1440022563 CA409075885	234	P>S		No	ClinGen gnomAD
CA9865510 rs745638825	235	E>D		No	ClinGen ExAC gnomAD
rs868604260 CA314579846	236	A>V		No	ClinGen Ensembl
CA9865512 rs780110912	237	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1282812389 CA409075996	238	E>G		No	ClinGen TOPMed
CA314580082 rs926209928	240	Q>P		No	ClinGen Ensembl
rs760271302 CA9865522	242	E>G		No	ClinGen ExAC gnomAD
CA9865523 rs571140894	243	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA409076055 rs1357112072	243	G>V		No	ClinGen TOPMed
CA9865524 rs753341503	244	K>R		No	ClinGen ExAC gnomAD
rs1172908319 CA409076072	245	D>G		No	ClinGen gnomAD
CA9865525 rs761371264	245	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA9865526 rs146854145	246	P>S		No	ClinGen ESP ExAC
CA409076100 rs1231678477	248	G>R		No	ClinGen TOPMed
rs1383979886 CA409076116	249	Q>R		No	ClinGen gnomAD
CA9865527 rs750412451	250	P>S		No	ClinGen ExAC gnomAD
CA409076130 rs1342687535	251	T>P		No	ClinGen gnomAD
CA314580102 rs931819736	252	A>T		No	ClinGen TOPMed gnomAD
CA9865530 rs376163134	255	P>L		No	ClinGen ESP ExAC gnomAD
CA9865529 rs376163134	255	P>R		No	ClinGen ESP ExAC gnomAD
CA9865531 rs755179991	257	S>G		No	ClinGen ExAC TOPMed
CA409076196 rs1199864168	257	S>I		No	ClinGen gnomAD
CA9865532 rs140650952	257	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA314580107 rs377226113	258	E>K		No	ClinGen TOPMed gnomAD
CA409076261 rs1164557689	263	S>R		No	ClinGen TOPMed
CA314587583 rs1026929354	273	C>W		No	ClinGen TOPMed
CA409077098 rs1459503022	274	W>C		No	ClinGen gnomAD
rs143835872 CA9865557 COSM188166	275	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs756324774 CA9865556	275	S>P		No	ClinGen ExAC gnomAD
rs771403075 CA9865559	277	E>A		No	ClinGen ExAC TOPMed gnomAD
CA9865560 rs374007728	278	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs772464549 CA9865562	280	L>V		No	ClinGen ExAC gnomAD
CA314587606 rs761885583	281	E>V		No	ClinGen Ensembl
rs775862031 CA9865563	282	E>Q		No	ClinGen ExAC gnomAD
rs769342204 CA9865565	283	Q>*		No	ClinGen ExAC gnomAD
rs377244946 CA9865566	283	Q>R		No	ClinGen ESP ExAC gnomAD
rs1006541433 CA314587611	285	A>G		No	ClinGen Ensembl
rs1197487217 CA409077171	286	I>V		No	ClinGen TOPMed gnomAD
CA409077180 rs1427728042	287	T>N		No	ClinGen TOPMed
rs1033074599 CA314587615	288	A>S		No	ClinGen Ensembl
rs766409839 CA9865568	289	P>L		No	ClinGen ExAC gnomAD
CA409077190 rs1460691026	289	P>S		No	ClinGen gnomAD
rs774483357 CA9865569	290	V>F		No	ClinGen ExAC gnomAD
CA409077196 rs1425808868	290	V>G		No	ClinGen gnomAD
CA9865570 rs759376747	291	S>G		No	ClinGen ExAC TOPMed gnomAD
CA9865571 rs199687556	292	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA9865572 rs376009587	294	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA409077221 rs1180656103	294	Q>R		No	ClinGen TOPMed
CA409077231 rs201459036	295	D>E		No	ClinGen ExAC TOPMed gnomAD
CA409077229 rs1333940730	295	D>G		No	ClinGen gnomAD
CA409077263 rs1158883709	298	A>G		No	ClinGen gnomAD
rs748855657 CA9865601	298	A>T		No	ClinGen ExAC gnomAD
CA409077271 rs1370648688	300	T>A		No	ClinGen gnomAD
rs201774104 CA9865602	302	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1341356917 CA409077308	305	G>S		No	ClinGen TOPMed
CA409077326 rs1421176104	307	K>R		No	ClinGen gnomAD
CA409077333 rs1393573367	308	L>P		No	ClinGen TOPMed gnomAD
CA409077337 rs1344340545	309	G>D		No	ClinGen gnomAD
CA409077334 rs1298204321	309	G>S		No	ClinGen gnomAD
CA409077341 rs1327467874	310	M>V		No	ClinGen gnomAD
rs1397604608 CA409077353	311	K>R		No	ClinGen TOPMed
CA409077357 rs1402626505	312	L>M		No	ClinGen gnomAD
CA9865605 rs745376971	314	G>C		No	ClinGen ExAC TOPMed gnomAD
COSM3670244 COSM3670246 CA409077373 rs1312143585	314	G>D	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed
rs745376971 CA9865604	314	G>S		No	ClinGen ExAC TOPMed gnomAD
rs775348032 CA9865607	315	I>L		No	ClinGen ExAC gnomAD
rs775348032 CA9865606	315	I>V		No	ClinGen ExAC gnomAD
rs1304629746 CA409077383	316	D>Y		No	ClinGen gnomAD
CA9865608 rs578119331	318	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs911381690 CA314587988	319	H>Y		No	ClinGen Ensembl
CA9865610 rs761963902	320	P>A		No	ClinGen ExAC TOPMed gnomAD
COSM1533789 rs765448221 CA9865611	320	P>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9865615 rs752051793	322	M>T		No	ClinGen ExAC TOPMed gnomAD
rs766884103 CA9865614	322	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1441101113 CA409077519	327	T>S		No	ClinGen gnomAD
rs1041388904 CA314588011	328	V>A		No	ClinGen Ensembl
rs753126855 CA9865618	328	V>L		No	ClinGen ExAC TOPMed gnomAD
rs753126855 CA314588010	328	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1568924233 CA409077553	330	E>A		No	ClinGen Ensembl
rs769613867 CA9865645	331	V>E		No	ClinGen ExAC TOPMed gnomAD
CA409077980 rs1176748908	332	C>R		No	ClinGen TOPMed
CA314588416 rs866944817	333	G>C		No	ClinGen Ensembl
rs773025192 CA9865646	334	Y>C		No	ClinGen ExAC gnomAD
rs773025192 CA409078010	334	Y>S		No	ClinGen ExAC gnomAD
CA409078018 rs1434350841	335	R>C		No	ClinGen TOPMed
rs376109118 CA314588429 COSM385469	335	R>H	lung [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs759496724 CA9865648	337	R>C		No	ClinGen ExAC TOPMed gnomAD
rs141863812 CA9865649	337	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs759730289 CA9865650	339	H>P		No	ClinGen ExAC TOPMed gnomAD
CA9865651 rs767897275	341	D>N		No	ClinGen ExAC gnomAD
rs1480574087 CA409078061	342	G>E		No	ClinGen TOPMed
CA314588466 rs1011970179	343	Y>C		No	ClinGen gnomAD
rs1336401167 CA409078082	345	E>V		No	ClinGen TOPMed gnomAD
rs1043161879 CA314588485	346	C>S		No	ClinGen Ensembl
CA9865653 rs761294977	346	C>S		No	ClinGen ExAC gnomAD
CA409078095 rs1430077582	347	H>R		No	ClinGen gnomAD
CA409078103 rs1276410568	348	D>G		No	ClinGen TOPMed gnomAD
rs903257460 CA314588486	349	F>C		No	ClinGen Ensembl
rs764503736 CA9865654	349	F>L		No	ClinGen ExAC gnomAD
rs999050460 CA314588487	352	N>S		No	ClinGen TOPMed gnomAD
rs754267014 CA9865655	354	N>S		No	ClinGen ExAC gnomAD
CA9865656 rs757920403	356	P>S		No	ClinGen ExAC gnomAD
CA9865657 rs766119373	357	D>N		No	ClinGen ExAC
rs1600936916 CA409078176	359	H>P		No	ClinGen Ensembl
CA409078182 rs1278853543	360	P>A		No	ClinGen gnomAD
CA9865659 rs754561956	360	P>L		No	ClinGen ExAC gnomAD
rs781073654 CA9865660	361	A>P		No	ClinGen ExAC gnomAD
CA9865661 rs748041735	361	A>V		No	ClinGen ExAC gnomAD
rs756072171 CA9865662	363	W>C		No	ClinGen ExAC gnomAD
rs1600937038 CA409078206	364	F>V		No	ClinGen Ensembl
CA9865663 rs75471272	365	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs778049858 CA314588545	367	T>M		No	ClinGen TOPMed
CA409078242 rs1568924617	369	H>R		No	ClinGen Ensembl
rs772234875 CA9865669	371	L>Q		No	ClinGen ExAC gnomAD
CA9865672 rs555926938	376	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA9865697 rs760236934	376	G>V		No	ClinGen ExAC TOPMed
rs763999516 CA9865698	377	Y>C		No	ClinGen ExAC gnomAD
CA9865700 rs753854328	382	F>L		No	ClinGen ExAC TOPMed gnomAD
CA9865701 rs200649862	384	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9865702 rs778710972	389	R>C		No	ClinGen ExAC gnomAD
COSM240450 CA9865703 rs750189899	389	R>H	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs750189899 CA9865704	389	R>L		No	ClinGen ExAC TOPMed gnomAD
rs780479681 CA9865705	390	S>N		No	ClinGen ExAC gnomAD
CA409078404 rs1225293814	391	T>P		No	ClinGen gnomAD
rs1164341392 CA409078417	393	A>D		No	ClinGen gnomAD
CA409078419 rs1164341392	393	A>G		No	ClinGen gnomAD
rs747059803 CA9865706	393	A>T		No	ClinGen ExAC gnomAD
CA409078459 rs1400269775	397	P>L		No	ClinGen gnomAD
CA409078463 rs1346560386	398	K>E		No	ClinGen TOPMed
CA409078468 rs1286221953	398	K>R		No	ClinGen TOPMed
CA9865708 rs781158638	403	S>N		No	ClinGen ExAC TOPMed gnomAD
CA9865709 rs748636119	404	Q>H		No	ClinGen ExAC gnomAD
CA9865710 rs770220920	406	H>N		No	ClinGen ExAC TOPMed gnomAD
CA409078859 rs1466953187	408	P>S		No	ClinGen gnomAD
rs1050545936 CA314589802	409	P>Q		No	ClinGen TOPMed
rs200425443 CA9865726	410	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200425443 CA314589806	410	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409078875 rs1600943558	411	L>P		No	ClinGen Ensembl
CA409078880 rs1254464371	412	G>D		No	ClinGen gnomAD
CA409078903 rs1188703328	415	V>A		No	ClinGen gnomAD
CA409078901 rs1484374546 COSM723613	415	V>M	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1376940112 CA409078917	417	M>I		No	ClinGen TOPMed
CA9865727 rs199592665	418	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA314589811 rs150354613	419	L>P		No	ClinGen 1000Genomes TOPMed
rs150354613 CA409078930	419	L>R		No	ClinGen 1000Genomes TOPMed
CA409078933 rs1483746794	420	E>G		No	ClinGen TOPMed
rs781278259 CA9865728	420	E>K		No	ClinGen ExAC gnomAD
rs1600943657 CA409078949	422	V>G		No	ClinGen Ensembl
rs1196455260 CA409078944	422	V>I		No	ClinGen gnomAD
COSM1212945 CA314589823 rs748183406	424	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs748183406 CA9865729	424	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9865730 rs756644032	424	R>H		No	ClinGen ExAC TOPMed gnomAD
rs778205488 CA9865731	425	M>T		No	ClinGen ExAC gnomAD
CA409078972 rs1600943694	426	N>T		No	ClinGen Ensembl
rs377493639 CA314589826	427	P>L		No	ClinGen ESP TOPMed gnomAD
rs774731219 CA9865734	428	S>F		No	ClinGen ExAC gnomAD
CA409078993 rs1344772158	430	V>I		No	ClinGen TOPMed
CA9865737 rs776198013	432	V>M		No	ClinGen ExAC gnomAD
CA409079037 rs1230845335	436	T>I		No	ClinGen TOPMed
CA409079041 rs773318506	437	D>G		No	ClinGen ExAC TOPMed gnomAD
CA9865739 rs765198050	437	D>N		No	ClinGen ExAC TOPMed gnomAD
CA9865740 rs773318506	437	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1285650080 CA409079056	440	D>N		No	ClinGen gnomAD
rs1487347902 CA409079070	441	S>R		No	ClinGen gnomAD
rs370621203 CA9865741	442	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs559497364 COSM1212946 CA314589864	442	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes gnomAD
rs1478000595 CA409079098	446	H>L		No	ClinGen gnomAD
rs1189803195 CA409079104	447	F>L		No	ClinGen gnomAD
CA409079107 rs1412476342	447	F>S		No	ClinGen TOPMed
rs1401315946 CA409079116	448	D>A		No	ClinGen TOPMed
CA9865742 rs150194410	450	W>*		No	ClinGen ESP ExAC gnomAD
CA314589865 rs199710711	450	W>*		No	ClinGen 1000Genomes TOPMed gnomAD
rs201640833 CA9865747	454	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201841566 CA9865746	454	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs201841566 CA9865745	454	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1025624468 CA314589875	455	D>N		No	ClinGen Ensembl
rs554990781 CA314590054	458	C>Y		No	ClinGen 1000Genomes
rs200674465 CA9865766	459	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752904228 CA9865767	459	D>V		No	ClinGen ExAC gnomAD
rs764113128 CA9865769	460	P>H		No	ClinGen ExAC TOPMed gnomAD
CA9865768 rs760989304	460	P>S		No	ClinGen ExAC gnomAD
rs756290399 CA314590069	462	S>G		No	ClinGen Ensembl
CA9865770 rs753929377	462	S>N		No	ClinGen ExAC TOPMed gnomAD
rs544126354 CA9865771	462	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs779452105 CA9865772	463	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1256565956 CA409079229	463	P>H		No	ClinGen gnomAD
rs1261165066 CA409079236	464	Y>C		No	ClinGen TOPMed gnomAD
CA9865775 rs780494945	467	P>R		No	ClinGen ExAC gnomAD
CA9865774 rs758729667	467	P>T		No	ClinGen ExAC gnomAD
CA409079260 rs1183148700	468	V>L		No	ClinGen gnomAD
rs747702411 CA9865776	471	C>Y		No	ClinGen ExAC gnomAD
rs769497297 CA9865777	473	K>E		No	ClinGen ExAC gnomAD
rs777350452 CA9865778	474	Q>*		No	ClinGen ExAC gnomAD
CA409079312 rs1402207286	475	G>E		No	ClinGen gnomAD
rs1329785348 CA409079320	476	K>M		No	ClinGen gnomAD
rs988877499 CA314590137	477	P>L		No	ClinGen TOPMed
rs770982337 CA9865780	477	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9865781 rs774483478	479	T>N		No	ClinGen ExAC gnomAD
rs1445882650 CA409079334	479	T>S		No	ClinGen gnomAD
rs771725544 CA9865783	480	P>S		No	ClinGen ExAC gnomAD
CA409079350 rs1313755984	482	Q>E		No	ClinGen TOPMed
CA314590376 rs143129523	484	Y>C		No	ClinGen ESP TOPMed gnomAD
CA409079606 rs1368899294	486	D>A		No	ClinGen TOPMed
CA409079605 rs1368899294	486	D>G		No	ClinGen TOPMed
rs776878089 CA9865804	486	D>N		No	ClinGen ExAC gnomAD
CA9865806 rs765248209	489	N>D		No	ClinGen ExAC gnomAD
rs147476830 CA9865807	489	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1323235728 CA409079641	489	N>S		No	ClinGen gnomAD
CA9865809 rs201251426	491	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1303651383 CA409079724	495	Y>N		No	ClinGen gnomAD
rs372862587 CA314590392	498	E>K		No	ClinGen ESP TOPMed
rs1352588224 CA409079783	499	T>I		No	ClinGen gnomAD
CA409079854 rs1406818592	506	T>I		No	ClinGen gnomAD
CA9865812 rs139693776	510	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409079903 rs1287549783	510	K>R		No	ClinGen gnomAD
rs756904545 CA9865833	512	R>Q		No	ClinGen ExAC gnomAD
CA9865834 rs765009782	513	P>A		No	ClinGen ExAC gnomAD
CA9865835 rs765009782	513	P>S		No	ClinGen ExAC gnomAD
CA314590486 rs1032952929	514	P>R		No	ClinGen TOPMed
CA9865836 rs190173382	516	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409080032 rs779461405	518	L>V		No	ClinGen ExAC TOPMed
rs746899223 CA9865838	519	V>D		No	ClinGen ExAC TOPMed gnomAD
CA9865839 rs754918479	520	N>D		No	ClinGen ExAC TOPMed gnomAD
rs144187591 CA9865840	520	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA409080052 rs754918479	520	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs374569088 CA9865841	521	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9865843 rs773534117	528	R>G		No	ClinGen ExAC gnomAD
rs377371886 CA9865844	528	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs377371886 CA409080165	528	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9865845 rs771006569	530	N>I		No	ClinGen ExAC gnomAD
CA9865846 rs774320584	531	P>S		No	ClinGen ExAC gnomAD
rs1476262364 CA409080212	532	A>D		No	ClinGen gnomAD
rs760062151 CA9865847	533	L>V		No	ClinGen ExAC gnomAD
rs772712126 CA9865848	534	I>V		No	ClinGen ExAC gnomAD
rs775994359 CA9865849	535	R>C		No	ClinGen ExAC TOPMed gnomAD
rs563728202 CA9865850	535	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs563728202 CA9865851	535	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775994359 CA409080237	535	R>S		No	ClinGen ExAC TOPMed gnomAD
CA9865853 rs369441284	536	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA409080267 rs1600947582	537	A>V		No	ClinGen Ensembl
rs148690220 CA9865855	539	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA409080299 rs1178284041	540	E>*		No	ClinGen TOPMed gnomAD
rs1297467194 CA409080308	540	E>D		No	ClinGen gnomAD
CA9865859 rs755980601	543	E>Q		No	ClinGen ExAC gnomAD
CA9865860 rs777464489 COSM1212944	546	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9865862 rs6017104 VAR_051098	547	I>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9865883 rs772237338	549	I>V		No	ClinGen ExAC gnomAD
CA409080386 rs1456154484	550	H>R		No	ClinGen gnomAD
CA409080403 rs1298712942	552	D>G		No	ClinGen TOPMed gnomAD
CA9865884 rs780301800	554	W>*		No	ClinGen ExAC gnomAD
CA409080434 rs1600948760	556	H>Q		No	ClinGen Ensembl
rs769043783 CA9865886	557	G>D		No	ClinGen ExAC TOPMed gnomAD
CA9865885 rs747491398	557	G>S		No	ClinGen ExAC gnomAD
rs1306106472 CA409080447	558	Y>*		No	ClinGen gnomAD
rs1371266802 CA409080444	558	Y>C		No	ClinGen gnomAD
CA409080470 rs1359690445	561	W>*		No	ClinGen gnomAD
CA9865889 rs770545746	562	I>M		No	ClinGen ExAC TOPMed gnomAD
CA409080481 rs1247734967	563	D>N		No	ClinGen TOPMed gnomAD
CA409080484 rs1321664316	563	D>V		No	ClinGen gnomAD
COSM188168 CA9865892 rs766968999 COSM3292285 COSM3292283	564	A>T	large_intestine breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1468597828 CA409080492	565	D>N		No	ClinGen gnomAD
CA409080503 rs774998882	566	H>P		No	ClinGen ExAC TOPMed gnomAD
CA9865893 rs774998882	566	H>R		No	ClinGen ExAC TOPMed gnomAD
CA314590738 rs887182040	567	P>L		No	ClinGen TOPMed
CA409080509 rs1230862774	567	P>S		No	ClinGen gnomAD
rs1358142214 CA409080512	568	D>N		No	ClinGen gnomAD
rs368489136 CA314590742	569	I>F		No	ClinGen ESP TOPMed gnomAD
rs760594805 CA9865894	570	H>P		No	ClinGen ExAC gnomAD
CA314590749 rs901762210	573	G>D		No	ClinGen TOPMed
CA9865896 rs139062449	573	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409080560 rs1166758100	575	C>G		No	ClinGen gnomAD
CA409080558 rs1166758100	575	C>S		No	ClinGen gnomAD
CA409080584 rs1479965733	578	T>R		No	ClinGen TOPMed gnomAD
rs1464972080 CA409080589	579	G>E		No	ClinGen TOPMed gnomAD
rs1600949091 CA409080596	580	H>R		No	ClinGen Ensembl
CA409080602 rs1244198582	581	P>S		No	ClinGen TOPMed gnomAD
rs1444401484 CA409080618	583	Q>H		No	ClinGen gnomAD
CA409080616 rs1353021546	583	Q>R		No	ClinGen gnomAD
rs765153446 CA9865898	585	P>A		No	ClinGen ExAC gnomAD
rs750622487 CA9865899	585	P>R		No	ClinGen ExAC gnomAD
CA409080636 rs544291942	587	G>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA409080647 rs1175638151	587	G>E		No	ClinGen gnomAD
rs544291942 CA9865900	587	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781366902 CA9865921	588	P>H		No	ClinGen ExAC TOPMed gnomAD
CA314591112 rs781366902	588	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1316915673 CA409080656	589	R>K		No	ClinGen gnomAD
CA9865922 rs372685377	590	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9865923 rs756628097	591	P>L		No	ClinGen ExAC TOPMed gnomAD
CA409080686 rs1280422549	593	S>F		No	ClinGen gnomAD
CA9865926 rs771702692	594	A>P		No	ClinGen ExAC gnomAD
CA9865927 rs145495950	595	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs746499947 CA9865928	596	P>R		No	ClinGen ExAC TOPMed gnomAD
CA314591130 rs915863627	598	G>D		No	ClinGen TOPMed gnomAD
rs533425456 CA9865929	598	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA314591136 rs941962053	599	C>R		No	ClinGen gnomAD
CA9865931 rs761773050	599	C>S		No	ClinGen ExAC gnomAD
CA314591141 rs376467003	600	P>A		No	ClinGen ExAC gnomAD
rs376467003 CA9865932	600	P>S		No	ClinGen ExAC gnomAD
CA409080718 rs376467003	600	P>T		No	ClinGen ExAC gnomAD
rs773127753 CA9865933	601	P>A		No	ClinGen ExAC gnomAD
CA409080723 rs773127753	601	P>S		No	ClinGen ExAC gnomAD
rs1157312716 CA409080732	602	L>H		No	ClinGen gnomAD
CA635502244 rs1214612327	604	Y>*		No	ClinGen gnomAD
rs762889335 CA9865934	604	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1325684033 CA409080759	606	S>T		No	ClinGen gnomAD
CA409080766 rs1306258367	607	L>P		No	ClinGen TOPMed gnomAD
CA409080768 rs1368244391	608	P>T		No	ClinGen gnomAD
CA9865935 rs144057381	609	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs751689804 CA409081004	610	T>P		No	ClinGen ExAC TOPMed gnomAD
rs751689804 CA9865936	610	T>S		No	ClinGen ExAC TOPMed gnomAD
CA9865937 rs201339937	611	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1181926228 CA409081015	612	T>P		No	ClinGen gnomAD
CA409081045 rs1308698507	616	S>C		No	ClinGen TOPMed
COSM1256211 rs1215786104 CA409081079	620	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA9865941 COSM443845 rs566855653	620	R>W	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA314591256 rs1047501042	621	K>R		No	ClinGen TOPMed
CA9865977 rs764113212	622	C>R		No	ClinGen ExAC gnomAD
CA409081149 rs1433510302	624	T>I		No	ClinGen gnomAD
rs369954577 CA9865978	624	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs891242997 CA314591263	626	G>S		No	ClinGen Ensembl
CA409081166 rs1171239810	627	C>F		No	ClinGen gnomAD
rs765827973 CA9865981	628	D>H		No	ClinGen ExAC gnomAD
rs765827973 CA9865980	628	D>N		No	ClinGen ExAC gnomAD
rs373335049 CA9865983	629	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs948490756 CA314591295	632	H>R		No	ClinGen TOPMed
CA314591292 rs868856158	632	H>Y		No	ClinGen Ensembl
rs1426298322 CA409081225	637	F>L		No	ClinGen TOPMed
rs1233574869 CA409081233	638	T>A		No	ClinGen gnomAD
rs1278301628 CA409081237	638	T>I		No	ClinGen gnomAD
CA409081296 rs1485086157	647	P>S		No	ClinGen gnomAD
rs754908259 CA314591309	648	L>M		No	ClinGen TOPMed gnomAD
rs35845394 CA9865991	651	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771863068 CA9865992	652	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA409081340 rs1429867827	654	S>G		No	ClinGen gnomAD
rs145295216 CA9865994	655	R>L		No	ClinGen ESP ExAC gnomAD
rs145295216 CA9865995	655	R>Q		No	ClinGen ESP ExAC gnomAD
rs775289527 CA9865993	655	R>W		No	ClinGen ExAC TOPMed gnomAD
rs776675186 CA9865996	656	L>P		No	ClinGen ExAC TOPMed gnomAD
CA9865997 rs761997316	658	A>V		No	ClinGen ExAC gnomAD
CA9866001 rs766790672	663	S>L		No	ClinGen ExAC TOPMed gnomAD
rs755825725 CA9866003	664	E>D		No	ClinGen ExAC gnomAD
CA314591342 rs112419239	667	A>V		No	ClinGen Ensembl
CA9866005 rs375735175	668	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9866006 rs370267982	668	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs370267982 CA9866007	668	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9866008 rs750328448	669	K>R		No	ClinGen ExAC gnomAD
rs1254540430 CA409081452	672	L>P		No	ClinGen gnomAD
CA409081464 rs1176148989	674	G>A		No	ClinGen gnomAD
CA9866010 rs779816432	676	S>C		No	ClinGen ExAC gnomAD
CA9866012 rs200928423	677	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1459713495 CA409081484	678	R>G		No	ClinGen gnomAD
CA9866014 rs748348767	681	P>L		No	ClinGen ExAC gnomAD
CA409081512 rs1437229119	682	R>C		No	ClinGen gnomAD
CA409081515 rs1279034158	682	R>H		No	ClinGen TOPMed gnomAD
CA409081520 rs1225964546	683	H>Y		No	ClinGen gnomAD
CA409081534 rs1334583086	685	G>S		No	ClinGen gnomAD
COSM1651348 CA9866017 COSM1026973 rs763451626	686	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs867846143 CA314591402	686	R>Q		No	ClinGen TOPMed gnomAD
CA409081555 rs1169342588	687	I>L		No	ClinGen gnomAD
CA409081559 rs1223311909	687	I>T		No	ClinGen gnomAD
rs368201223 CA9866045	689	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1568927336 CA409081570	689	R>H		No	ClinGen Ensembl
rs778057037 CA9866047	691	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1433081565 COSM229365 CA409081601	694	R>*	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs143376857 CA314591497	694	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs143376857 CA9866050	694	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs777906569 CA9866051	696	I>M		No	ClinGen ExAC gnomAD
CA409081615 rs1228405005	696	I>T		No	ClinGen gnomAD
CA9866053 rs757375651	697	P>L		No	ClinGen ExAC TOPMed gnomAD
rs749349611 CA9866052	697	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9866056 rs367711004	699	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA409081639 rs1451567072	700	D>G		No	ClinGen gnomAD
rs1057361356 CA314591511	700	D>N		No	ClinGen gnomAD
rs1057361356 CA409081636	700	D>Y		No	ClinGen gnomAD
rs772464916 CA9866057	701	F>L		No	ClinGen ExAC gnomAD
CA409081655 rs1394545366	702	Q>L		No	ClinGen gnomAD
rs1394545366 CA409081654	702	Q>R		No	ClinGen gnomAD
rs1027444055 CA314592794	703	T>I		No	ClinGen TOPMed gnomAD
CA409082041 rs1027444055	703	T>N		No	ClinGen TOPMed gnomAD
CA409082044 rs1187609667	704	L>F		No	ClinGen TOPMed gnomAD
CA9866099 rs371775266 COSM1026974	705	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1187776229 CA409082057	706	P>L		No	ClinGen gnomAD
CA9866104 rs760465225	707	D>A		No	ClinGen ExAC gnomAD
CA409082059 rs775081513	707	D>H		No	ClinGen ExAC TOPMed gnomAD
CA9866103 COSM1026975 rs775081513	707	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs760465225 CA409082062	707	D>V		No	ClinGen ExAC gnomAD
CA409082069 rs1281531137	708	V>G		No	ClinGen TOPMed
CA409082075 rs1600963716	709	V>G		No	ClinGen Ensembl
COSM77987 CA9866106 rs781689500	709	V>M	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1311060237 CA409082091 CA409082090	711	Q>H		No	ClinGen gnomAD
rs1307186586 CA409082089	711	Q>L		No	ClinGen TOPMed
CA9866107 rs761736597	712	S>F		No	ClinGen ExAC gnomAD
rs765151346 CA9866108	715	M>V		No	ClinGen ExAC gnomAD
rs750622133 CA9866109	717	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9866111 rs766300931	718	L>P		No	ClinGen ExAC gnomAD
rs35266539 CA9866112	719	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs35266539 CA314592846	719	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1254804845 CA409082143	720	A>V		No	ClinGen TOPMed gnomAD
CA409082145 rs1174652004	721	H>D		No	ClinGen Ensembl
CA409082156 rs1178529894	722	P>R		No	ClinGen TOPMed
rs1468305653 CA409082158	723	D>N		No	ClinGen TOPMed
CA9866114 rs144951279	724	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9866115 rs144951279	724	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200372314 CA9866116	724	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA409082181 rs1600963990	727	S>T		No	ClinGen Ensembl
CA409082188 rs1600964012	728	V>L		No	ClinGen Ensembl
rs1390248364 CA409082202	730	W>R		No	ClinGen gnomAD
CA409082213 rs1171654178	731	E>G		No	ClinGen gnomAD
CA409082210 rs1453305761	731	E>K		No	ClinGen gnomAD
CA409082220 rs1466329938	732	Q>*		No	ClinGen TOPMed gnomAD
CA409082243 rs1384460166	735	K>E		No	ClinGen gnomAD
rs976632035 CA314592860	738	P>R		No	ClinGen TOPMed gnomAD
CA314592864 rs1030340944 COSM1026976	741	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA314592874 rs376942943	743	I>V		No	ClinGen Ensembl
CA314592876 rs986228238	746	S>L		No	ClinGen TOPMed gnomAD
COSM1411910 CA314592887 rs868489823	749	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA9866125 rs769651967	753	I>V		No	ClinGen ExAC TOPMed gnomAD
rs773063331 CA9866126	754	D>N		No	ClinGen ExAC TOPMed gnomAD
CA409082398 rs1568928740	758	G>S		No	ClinGen Ensembl
rs1289392943 CA409082412	760	V>I		No	ClinGen gnomAD
rs1048779067 CA314593029	763	L>P		No	ClinGen TOPMed
CA409082439 rs377597708	764	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs377597708 CA9866151	764	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA409082452 rs1321773469	766	C>F		No	ClinGen gnomAD
COSM1172720 rs888078814 CA314593040	771	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
COSM443847 rs757597984 CA9866154	771	R>H	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs757597984 CA9866153	771	R>P		No	ClinGen ExAC TOPMed gnomAD
CA409082513 rs1484002046	775	D>V		No	ClinGen gnomAD
CA9866156 rs374218279	776	E>K		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with Q9Y468

2 regional properties for Q9Y468

Type	Name	Position	InterPro Accession
domain	Glycosyl transferase 64 domain	480 - 729	IPR015338
domain	Exostosin, GT47 domain	111 - 395	IPR040911

Functions

		Description
EC Number
Subcellular Localization	Nucleus	Excluded from the nucleolus Does not colocalize with the PcG protein BMI1, suggesting that these two proteins do not belong to the same complex
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
chromatin lock complex	A chromatin silencing complex that binds and bridges separate nucleosomal histones resulting in heterochromatin assembly and chromatin looping.
condensed chromosome	A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct structure.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
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.

7 GO annotations of molecular function

Name	Definition
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
histone binding	Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription.
identical protein binding	Binding to an identical protein or proteins.
methylated histone binding	Binding to a histone in which a residue has been modified by methylation.
nucleosome binding	Binding to a nucleosome, a complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures.
SAM domain binding	Binding to a SAM (Sterile Alpha Motif) domain, which is a 70-amino acid protein sequence that participates in protein-protein, protein-lipid, and protein-RNA interactions and is conserved from lower to higher eukaryotes.
zinc ion binding	Binding to a zinc ion (Zn).

7 GO annotations of biological process

Name	Definition
chromatin organization	The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA.
hemopoiesis	The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates.
heterochromatin assembly	An epigenetic gene silencing mechanism in which chromatin is compacted into heterochromatin, resulting in a chromatin conformation refractory to transcription. This process starts with heterochromatin nucleation, its spreading, and ends with heterochromatin boundary formation.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of megakaryocyte differentiation	Any process that modulates the frequency, rate or extent of megakaryocyte differentiation.
regulation of mitotic nuclear division	Any process that modulates the frequency, rate or extent of mitosis.

10 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q969R5	L3MBTL2	Lethal(3)malignant brain tumor-like protein 2	Homo sapiens (Human)	PR
Q9UQR0	SCML2	Sex comb on midleg-like protein 2	Homo sapiens (Human)	PR
Q96GD3	SCMH1	Polycomb protein SCMH1	Homo sapiens (Human)	PR
Q96JM7	L3MBTL3	Lethal(3)malignant brain tumor-like protein 3	Homo sapiens (Human)	PR
Q9UHJ3	SFMBT1	Scm-like with four MBT domains protein 1	Homo sapiens (Human)	PR
Q8BLB7	L3mbtl3	Lethal(3)malignant brain tumor-like protein 3	Mus musculus (Mouse)	PR
Q9JMD1	Sfmbt1	Scm-like with four MBT domains protein 1	Mus musculus (Mouse)	PR
A2A5N8	L3mbtl1	Lethal(3)malignant brain tumor-like protein 1	Mus musculus (Mouse)	PR
Q9JMD2	Sfmbt1	Scm-like with four MBT domains protein 1	Rattus norvegicus (Rat)	PR
B2D6M2	lin-61	Protein lin-61	Caenorhabditis elegans	PR

10	20	30	40	50	60
MHLVAGDSPG	SGPHLPATAF	IIPASSATLG	LPSSALDVSC	FPREPIHVGA	PEQVAGCEPV
70	80	90	100	110	120
SATVLPQLSA	GPASSSTSTV	RLLEWTEAAA	PPPGGGLRFR	ISEYKPLNMA	GVEQPPSPEL
130	140	150	160	170	180
RQEGVTEYED	GGAPAGDGEA	GPQQAEDHPQ	NPPEDPNQDP	PEDDSTCQCQ	ACGPHQAAGP
190	200	210	220	230	240
DLGSSNDGCP	QLFQERSVIV	ENSSGSTSAS	ELLKPMKKRK	RREYQSPSEE	ESEPEAMEKQ
250	260	270	280	290	300
EEGKDPEGQP	TASTPESEEW	SSSQPATGEK	KECWSWESYL	EEQKAITAPV	SLFQDSQAVT
310	320	330	340	350	360
HNKNGFKLGM	KLEGIDPQHP	SMYFILTVAE	VCGYRLRLHF	DGYSECHDFW	VNANSPDIHP
370	380	390	400	410	420
AGWFEKTGHK	LQPPKGYKEE	EFSWSQYLRS	TRAQAAPKHL	FVSQSHSPPP	LGFQVGMKLE
430	440	450	460	470	480
AVDRMNPSLV	CVASVTDVVD	SRFLVHFDNW	DDTYDYWCDP	SSPYIHPVGW	CQKQGKPLTP
490	500	510	520	530	540
PQDYPDPDNF	CWEKYLEETG	ASAVPTWAFK	VRPPHSFLVN	MKLEAVDRRN	PALIRVASVE
550	560	570	580	590	600
DVEDHRIKIH	FDGWSHGYDF	WIDADHPDIH	PAGWCSKTGH	PLQPPLGPRE	PSSASPGGCP
610	620	630	640	650	660
PLSYRSLPHT	RTSKYSFHHR	KCPTPGCDGS	GHVTGKFTAH	HCLSGCPLAE	RNQSRLKAEL
670	680	690	700	710	720
SDSEASARKK	NLSGFSPRKK	PRHHGRIGRP	PKYRKIPQED	FQTLTPDVVH	QSLFMSALSA
730	740	750	760	770	780
HPDRSLSVCW	EQHCKLLPGV	AGISASTVAK	WTIDEVFGFV	QTLTGCEDQA	RLFKDEARIV
790	800	810	820	830
RVTHVSGKTL	VWTVAQLGDL	VCSDHLQEGK	GILETGVHSL	LCSLPTHLLA	KLSFASDSQY