AiPD: Autoinhibited Protein Database

Q96JM7

Gene name	L3MBTL3
Protein name	Lethal(3)malignant brain tumor-like protein 3
Names	H-l(3)mbt-like protein 3, L(3)mbt-like protein 3, L3mbt-like 3, MBT-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84456
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

128-235 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

128-235 (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

8 structures for Q96JM7

Entry ID	Method	Resolution	Chain	Position	Source
1WJQ	NMR	-	A	469-562	PDB
1WJS	NMR	-	A	258-371	PDB
3UT1	X-ray	205 A	A	228-551	PDB
4FL6	X-ray	255 A	A/B	229-553	PDB
4L59	X-ray	229 A	A	228-544	PDB
7RTE	X-ray	206 A	D	56-69	PDB
7RTI	X-ray	205 A	D	56-69	PDB
AF-Q96JM7-F1	Predicted				AlphaFoldDB

565 variants for Q96JM7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA3996017 rs749295047	2	T>S		No	ClinGen ExAC gnomAD
TCGA novel	4	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs879151401 CA365615845	5	A>P		No	ClinGen gnomAD
rs879151401 CA146968571	5	A>S		No	ClinGen gnomAD
CA3996018 rs771106964	5	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3996021 rs746041762	6	S>C		No	ClinGen ExAC TOPMed gnomAD
CA3996020 rs746041762	6	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1437107922 CA365615867	7	S>G		No	ClinGen gnomAD
CA146968579 rs200776632	8	T>A		No	ClinGen 1000Genomes TOPMed gnomAD
CA365615883 rs200776632	8	T>P		No	ClinGen 1000Genomes TOPMed gnomAD
CA365615901 rs776070232	9	S>N		No	ClinGen ExAC TOPMed gnomAD
rs776070232 CA3996023	9	S>T		No	ClinGen ExAC TOPMed gnomAD
CA365615987 rs1183414509	15	V>A		No	ClinGen TOPMed
CA3996025 rs527613240	15	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1348409851 CA365616021	18	V>I		No	ClinGen TOPMed gnomAD
rs1278113120 CA365616050	19	M>I		No	ClinGen gnomAD
CA3996026 rs761227268	19	M>T		No	ClinGen ExAC gnomAD
CA365616053 rs1485355825	20	D>N		No	ClinGen gnomAD
CA365616157 rs1205219942	27	T>A		No	ClinGen TOPMed
rs772613559 CA3996028	27	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs915274432 CA146970636	36	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA146970631 rs988382680	36	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3996051 rs761013559	37	V>I		No	ClinGen ExAC gnomAD
TCGA novel	41	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764458892 CA3996052	42	A>T		No	ClinGen ExAC gnomAD
CA365617699 rs1410258152	46	I>T		No	ClinGen gnomAD
CA146970646 rs968434994	48	D>N		No	ClinGen Ensembl
CA365617724 rs1338439383	50	N>Y		No	ClinGen gnomAD
rs1409887720 CA365617756	54	N>D		No	ClinGen TOPMed
CA3996056 rs142080920	54	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1212123441 CA365617800	58	A>T		No	ClinGen gnomAD
CA146970653 rs866217072	65	M>I		No	ClinGen Ensembl
CA365617980 rs1584319903	70	Q>P		No	ClinGen Ensembl
CA3996057 rs750511924	72	A>T		No	ClinGen ExAC gnomAD
rs538750136 CA3996082	73	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3996081 rs538750136	73	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1401333545 CA365619193	73	P>S		No	ClinGen TOPMed
rs1174133281 CA365619215	74	T>S		No	ClinGen gnomAD
CA3996085 rs201979908	76	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146707238 CA3996089	77	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs146707238 CA365619253	77	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3996088 rs778350187	77	P>S		No	ClinGen ExAC gnomAD
CA365619290 rs1376547473	79	S>F		No	ClinGen TOPMed gnomAD
rs1442125822 CA365619299	80	R>K		No	ClinGen TOPMed gnomAD
CA146970790 rs917925076	81	P>L		No	ClinGen TOPMed
rs762235787 CA3996092	82	V>I		No	ClinGen ExAC TOPMed gnomAD
CA146970796 rs969789700	84	P>L		No	ClinGen TOPMed gnomAD
CA3996095 rs763487757	85	P>L		No	ClinGen ExAC gnomAD
rs763487757 CA365619376	85	P>R		No	ClinGen ExAC gnomAD
rs773729103 CA3996094	85	P>S		No	ClinGen ExAC gnomAD
rs1230845809 CA365619394	86	A>V		No	ClinGen gnomAD
CA3996097 rs751643078	90	S>F		No	ClinGen ExAC TOPMed gnomAD
rs759586015 CA365619471	91	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs759586015 CA3996098	91	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3996099 rs149158789	92	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3996100 rs141539115	93	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	97	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	101	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775643642 CA3996121	102	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1339357106 CA365619571	103	G>W		No	ClinGen gnomAD
CA3996124 rs753605522	104	M>V		No	ClinGen ExAC gnomAD
CA365619588 rs1353932211	105	P>A		No	ClinGen gnomAD
CA365619584 rs1353932211	105	P>T		No	ClinGen gnomAD
CA146971309 rs5017899	107	R>K		No	ClinGen Ensembl
rs757081187 CA3996125	107	R>S		No	ClinGen ExAC
CA3996126 rs765158154	108	L>V		No	ClinGen ExAC gnomAD
CA3996127 rs750388151	110	D>G		No	ClinGen ExAC
TCGA novel	110	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3996130 rs779368860	114	V>A		No	ClinGen ExAC TOPMed gnomAD
rs779368860 CA3996129	114	V>G		No	ClinGen ExAC TOPMed gnomAD
CA146971328 rs5017900	116	G>R		No	ClinGen Ensembl
rs781041686 CA3996132	117	L>H		No	ClinGen ExAC TOPMed gnomAD
CA146971333 rs992973392	119	F>C		No	ClinGen Ensembl
rs566848745 CA3996133	120	C>F		No	ClinGen 1000Genomes ExAC gnomAD
rs775735143 CA3996134	124	C>R		No	ClinGen ExAC TOPMed gnomAD
CA146971339 rs918109892	125	Q>L		No	ClinGen Ensembl
CA365619736 rs1338218977	126	Y>C		No	ClinGen TOPMed
rs772665679 CA3996137	129	V>A		No	ClinGen ExAC gnomAD
CA3996136 rs534518041	129	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	131	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775378786 CA3996138	132	C>S		No	ClinGen ExAC TOPMed gnomAD
CA146971348 rs200567841	134	S>F		No	ClinGen 1000Genomes gnomAD
CA365619800 rs1479094883	135	G>E		No	ClinGen Ensembl
CA365619797 rs1359282948	135	G>R		No	ClinGen gnomAD
rs1414892305 CA365619806	136	G>E		No	ClinGen gnomAD
rs1414892305 CA365619815	136	G>V		No	ClinGen gnomAD
rs202023072 CA3996139	137	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA3996141 rs41285300	138	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764266149 CA3996140	138	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA365619854 rs41285300	138	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3996142 rs761585609	139	C>R		No	ClinGen ExAC gnomAD
rs189275372 CA3996143	139	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA146971361 rs576972454	142	N>I		No	ClinGen TOPMed
CA3996145 rs556717499	143	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1407981805 CA365620073	145	R>Q		No	ClinGen TOPMed gnomAD
rs181310750 CA3996146	145	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365620107 rs1473773067	146	H>R		No	ClinGen TOPMed
rs751012075 CA3996147	147	I>M		No	ClinGen ExAC TOPMed gnomAD
rs372226924 CA3996148	148	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3996149 rs780988660	149	D>H		No	ClinGen ExAC gnomAD
TCGA novel	150	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755778706 CA3996170	151	D>G		No	ClinGen ExAC gnomAD
CA146971885 rs971413194	151	D>Y		No	ClinGen TOPMed gnomAD
CA3996171 rs777526351	152	Q>E		No	ClinGen ExAC
CA365621494 rs1294726337	154	E>G		No	ClinGen TOPMed
rs919081868 CA146971894	157	D>G		No	ClinGen TOPMed
CA146971891 rs981278625	157	D>N		No	ClinGen Ensembl
CA146971896 rs919081868	157	D>V		No	ClinGen TOPMed
rs758860319 CA365621629	158	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3996173 rs758860319	158	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	160	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs547093963 CA3996174	161	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1463782746 CA365621740	162	N>D		No	ClinGen gnomAD
rs375643235 CA3996175	162	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	163	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781213077 CA3996177	164	E>G		No	ClinGen ExAC gnomAD
rs1299118697 CA365621879	166	D>E		No	ClinGen gnomAD
rs748254106 CA3996178	168	K>*		No	ClinGen ExAC gnomAD
CA3996180 rs773523944	169	C>F		No	ClinGen ExAC gnomAD
rs773523944 CA3996181	169	C>Y		No	ClinGen ExAC gnomAD
CA3996182 rs770818724	170	S>R		No	ClinGen ExAC gnomAD
CA3996185 rs759505576	171	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3996184 rs759505576	171	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3996183 rs774291119	171	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1006347235 CA146971921	172	K>R		No	ClinGen TOPMed gnomAD
CA3996186 rs752229172	173	K>R		No	ClinGen ExAC gnomAD
rs1429673010 CA365622056	175	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3996187 rs760298861	176	K>N		No	ClinGen ExAC TOPMed gnomAD
CA365622138 rs1178976091	178	S>F		No	ClinGen TOPMed
rs1479720147 CA365622141	179	L>M		No	ClinGen TOPMed
TCGA novel	179	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753582467 CA3996189	181	A>D		No	ClinGen ExAC gnomAD
CA365622202 rs753582467	181	A>G		No	ClinGen ExAC gnomAD
CA365622249 rs9388768	183	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_022368 CA3996191 rs9388768	183	T>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA365622246 rs9388768	183	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	184	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3996192 rs766702463	186	D>Y		No	ClinGen ExAC gnomAD
rs981866211 CA146971946	187	G>E		No	ClinGen TOPMed
rs1051300115 CA146971949	190	R>K		No	ClinGen Ensembl
CA3996195 rs377679555	191	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3996194 rs755432504	191	D>N		No	ClinGen ExAC gnomAD
CA365622370 rs755432504	191	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	195	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365623307 rs1584333520	195	E>Q		No	ClinGen Ensembl
rs755376943 CA3996212	196	N>H		No	ClinGen ExAC gnomAD
CA365623375 rs1215221715	196	N>K		No	ClinGen gnomAD
CA3996213 rs768008218	197	K>R		No	ClinGen ExAC gnomAD
rs753263026 CA3996214	198	Q>E		No	ClinGen ExAC gnomAD
rs146062842 CA146972786	199	D>V		No	ClinGen ESP TOPMed
CA146972793 rs775991456	202	I>M		No	ClinGen Ensembl
rs374439879 CA3996217	204	R>K		No	ClinGen ESP ExAC TOPMed
rs200526729 COSM1311549 CA3996218	206	S>L	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA365623595 rs200526729	206	S>W		No	ClinGen 1000Genomes ExAC gnomAD
CA365623662 rs1174329280	209	A>G		No	ClinGen gnomAD
TCGA novel	209	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775436383 CA3996222	210	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs772047415 CA3996221	210	R>W		No	ClinGen ExAC TOPMed gnomAD
rs150311316 CA3996223	211	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA3996224 rs768510188	213	R>K		No	ClinGen ExAC TOPMed gnomAD
CA365623733 rs1562270316	214	R>*		No	ClinGen Ensembl
TCGA novel	214	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3996225 rs776161155	216	D>Y		No	ClinGen ExAC gnomAD
rs368839890 COSM1073177 CA3996226	217	S>L	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1562270361 CA365623803	219	V>I		No	ClinGen Ensembl
CA3996227 rs764842531	220	L>I		No	ClinGen ExAC gnomAD
CA365623825 rs1313454848	220	L>P		No	ClinGen gnomAD
CA146972816 rs1010454470	221	K>R		No	ClinGen TOPMed
rs772918911 CA3996229	222	Q>H		No	ClinGen ExAC gnomAD
CA3996247 rs747693253	224	L>F		No	ClinGen ExAC TOPMed gnomAD
CA146973496 rs894264832	225	P>L		No	ClinGen TOPMed gnomAD
rs769355434 CA3996248	226	P>L		No	ClinGen ExAC gnomAD
rs1234001106 CA365624579	228	G>E		No	ClinGen TOPMed
TCGA novel	229	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1303235223 CA365624606	229	K>R		No	ClinGen TOPMed
CA365624655 rs1420387654	231	A>V		No	ClinGen TOPMed gnomAD
COSM740193 rs906721951 CA146973512	233	C>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA365624742 COSM740192 rs1399961435	234	W>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs762528521 CA3996250	235	A>T		No	ClinGen ExAC gnomAD
CA365624777 rs1325996565	235	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA146973516 rs994707842	238	L>V		No	ClinGen Ensembl
rs1292433307 CA365624860	240	E>D		No	ClinGen TOPMed gnomAD
CA3996252 rs374985069	240	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs760981827 CA3996253	241	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs764657481 CA3996254	243	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3996256 rs762423051	244	V>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	245	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199734515 CA3996257	247	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3996260 rs146342755	248	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1475686954 CA365625119	252	K>E		No	ClinGen gnomAD
rs1165353677 CA365625133	252	K>N		No	ClinGen gnomAD
CA146973563 rs945909905	252	K>R		No	ClinGen TOPMed
CA146973561 rs945909905	252	K>T		No	ClinGen TOPMed
TCGA novel	253	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1293556775 CA365626813	254	H>R		No	ClinGen gnomAD
rs776814409 CA3996291	257	F>L		No	ClinGen ExAC gnomAD
CA365627043 rs1202349494	260	N>K		No	ClinGen gnomAD
TCGA novel	262	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365627090 rs1562275416	262	N>K		No	ClinGen Ensembl
CA365627161 rs1442096693	267	G>D		No	ClinGen gnomAD
CA3996294 rs374600023	268	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3996295 rs578079063	270	L>S		No	ClinGen 1000Genomes ExAC gnomAD
CA365627241 rs1423020139	273	V>A		No	ClinGen TOPMed
rs766315177 CA3996296	273	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs766315177 CA3996297	273	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3996299 rs767826800	276	E>K		No	ClinGen ExAC gnomAD
rs1399580800 CA365627296	277	H>R		No	ClinGen gnomAD
rs1412966101 CA365627316	278	Q>H		No	ClinGen gnomAD
rs752455571 CA3996300	278	Q>R		No	ClinGen ExAC gnomAD
rs753716906 CA365627360	282	C>R		No	ClinGen ExAC TOPMed gnomAD
rs753716906 CA3996303	282	C>S		No	ClinGen ExAC TOPMed gnomAD
CA365627366 rs1331709214	282	C>S		No	ClinGen gnomAD
CA3996306 rs542681807	286	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779894364 CA3996308	287	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3996309 rs377627906	287	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs778300459 CA3996311	288	E>G		No	ClinGen ExAC gnomAD
rs1452919384 CA365629327	289	V>I		No	ClinGen TOPMed
CA3996343 rs749689075	290	C>F		No	ClinGen ExAC gnomAD
CA3996344 rs771308596	292	Y>*		No	ClinGen ExAC gnomAD
rs1323890504 CA365629424	293	R>W		No	ClinGen gnomAD
rs779538633 CA3996345	294	I>M		No	ClinGen ExAC gnomAD
CA365629545 rs1215952510	298	F>L		No	ClinGen TOPMed
CA365629539 rs1282295845	298	F>S		No	ClinGen TOPMed
rs1029449580 CA146976506	298	F>V		No	ClinGen TOPMed
rs80129948 CA3996346	299	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA3996347 rs772128840	299	D>V		No	ClinGen ExAC gnomAD
rs80129948 CA365629552	299	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA3996348 rs775551350	300	G>A		No	ClinGen ExAC TOPMed
CA3996350 rs768887214	301	Y>*		No	ClinGen ExAC gnomAD
CA3996349 rs760846056	301	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1584360515 CA365629592	301	Y>D		No	ClinGen Ensembl
rs776386855 CA3996351	302	S>F		No	ClinGen ExAC gnomAD
CA3996353 rs781250801	305	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1185280290 CA365629651	305	Y>H		No	ClinGen gnomAD
rs1315675541 CA365629695	308	W>R		No	ClinGen TOPMed
rs1584360616 CA365629718	309	V>G		No	ClinGen Ensembl
CA365629725 rs1584360626	310	N>D		No	ClinGen Ensembl
rs750432788 CA365629739	310	N>K		No	ClinGen ExAC gnomAD
rs765924975 CA3996356	312	D>G		No	ClinGen ExAC TOPMed gnomAD
rs940968246 CA146976521 COSM75197	313	A>T	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1394616366 CA365629787	314	L>P		No	ClinGen gnomAD
rs1394616366 CA365629785	314	L>Q		No	ClinGen gnomAD
rs1168779986 CA365629781	314	L>V		No	ClinGen gnomAD
CA365629797 rs1584360735	315	D>G		No	ClinGen Ensembl
CA3996358 rs754630957	319	V>F		No	ClinGen ExAC gnomAD
CA3996359 rs781043533	321	W>S		No	ClinGen ExAC gnomAD
CA3996360 rs754145977	322	C>F		No	ClinGen ExAC gnomAD
rs779154531 CA3996363	325	T>N		No	ClinGen ExAC TOPMed gnomAD
rs757696011 CA3996361	325	T>P		No	ClinGen ExAC gnomAD
rs779154531 CA3996362	325	T>S		No	ClinGen ExAC TOPMed gnomAD
rs747139747 COSM483380 CA3996366	326	G>D	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3996365 rs369704981	326	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768836449 CA3996367	327	H>Q		No	ClinGen ExAC gnomAD
CA365629914 rs1180443935	331	P>H		No	ClinGen gnomAD
COSM334681 rs1378501525 CA365629919	332	P>L	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs930612188 CA146976537	332	P>T		No	ClinGen Ensembl
rs117297848 CA3996368	333	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1053883486 CA146976960	334	G>E		No	ClinGen TOPMed
CA365629927 rs1361085415	334	G>R		No	ClinGen gnomAD
CA365630583 rs1369119869	335	Y>C		No	ClinGen TOPMed gnomAD
CA365630579 rs1341007390	335	Y>H		No	ClinGen TOPMed gnomAD
rs952617018 CA146976962	338	E>K		No	ClinGen Ensembl
rs1358424674 CA365630676	340	F>L		No	ClinGen TOPMed
rs747088794 CA3996385	340	F>S		No	ClinGen ExAC gnomAD
rs755111269 CA3996386	341	N>S		No	ClinGen ExAC gnomAD
COSM1634486 rs567616091 CA3996387	345	Y>C	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA365630822 rs1222228091	346	L>I		No	ClinGen gnomAD
CA3996390 rs773016164	351	A>T		No	ClinGen ExAC TOPMed gnomAD
CA146976967 rs1009161298	353	A>P		No	ClinGen TOPMed
rs868127152 CA146976970	355	P>T		No	ClinGen Ensembl
rs202052303 CA3996391	356	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1205491825 CA365631127	359	F>C		No	ClinGen gnomAD
CA365631120 rs1168964945	359	F>L		No	ClinGen TOPMed gnomAD
CA365631139 rs1246111364	360	E>K		No	ClinGen gnomAD
rs753028634 CA3996395	362	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA146976975 rs976942823	362	Q>R		No	ClinGen Ensembl
CA365631219 rs1389221805	363	N>Y		No	ClinGen TOPMed
rs891837019 CA146977347	366	V>A		No	ClinGen Ensembl
rs374581461 COSM1073180 CA3996422	369	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1283788664 CA365632379	370	G>V		No	ClinGen gnomAD
CA3996424 rs756218615	373	V>D		No	ClinGen ExAC
TCGA novel	376	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA146977348 rs530294230	379	A>T		No	ClinGen Ensembl
rs777919759 CA3996425	380	V>I		No	ClinGen ExAC gnomAD
TCGA novel	381	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365632596 rs1212666432	382	K>E		No	ClinGen gnomAD
CA3996426 rs754044482	382	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1444486513 CA365632622	383	K>R		No	ClinGen gnomAD
rs1380328962 CA365632636	384	N>S		No	ClinGen gnomAD
rs778799094 CA3996428	387	F>C		No	ClinGen ExAC gnomAD
rs745705585 CA365632695	388	I>F		No	ClinGen ExAC TOPMed gnomAD
rs745705585 CA3996429	388	I>V		No	ClinGen ExAC TOPMed gnomAD
rs779921736 CA3996431	389	C>Y		No	ClinGen ExAC gnomAD
rs1451764117 CA365632764	392	T>A		No	ClinGen TOPMed gnomAD
rs746514298 CA3996432	392	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1243367893 CA365632775	393	V>L		No	ClinGen TOPMed
TCGA novel CA365632832 rs1236942860	396	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
rs776125684 CA3996434	397	V>M		No	ClinGen ExAC gnomAD
CA3996435 rs200282626	399	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3996436 rs769461930	400	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA365632890 rs769461930	400	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1350313530 CA365632946	404	H>R		No	ClinGen TOPMed
CA365632963 rs1461166524	405	F>L		No	ClinGen gnomAD
rs894155311 CA146977349	409	D>E		No	ClinGen TOPMed
CA570064855 rs1349833779	410	E>V*		No	ClinGen gnomAD
CA365633011 rs1388784888	411	S>R		No	ClinGen TOPMed
CA3996437 rs774678258	412	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs774678258 CA365633016	412	Y>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	413	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365633028 rs1240542412	414	Y>H		No	ClinGen gnomAD
CA365634533 rs1460348400	417	E>K		No	ClinGen gnomAD
CA3996461 rs200259290	418	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1426596866 CA365634554	420	S>C		No	ClinGen gnomAD
CA3996463 rs765542473	421	P>S		No	ClinGen ExAC gnomAD
rs750553106 CA3996464	422	H>Y		No	ClinGen ExAC gnomAD
rs754421838 CA146979282	423	I>T		No	ClinGen Ensembl
CA365634645 rs1490512857	433	R>G		No	ClinGen TOPMed
CA3996465 rs758651675	433	R>K	Variant assessed as Somatic; 0.0002311 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs751394269 CA3996467	437	I>T		No	ClinGen ExAC gnomAD
CA146979287 rs1000364950	439	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs781149629 CA3996469	440	P>A		No	ClinGen ExAC gnomAD
rs1453401750 CA365635780	441	G>D		No	ClinGen gnomAD
rs559854825 CA3996488	444	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs780281358 CA146980463	444	N>T		No	ClinGen gnomAD
rs1401654821 CA365635809	446	K>E		No	ClinGen TOPMed
CA365635815 rs1336683109	446	K>N		No	ClinGen gnomAD
rs1358362182 CA365635821	447	H>R		No	ClinGen TOPMed
rs1223833944 CA365635853	451	D>E		No	ClinGen gnomAD
rs759396438 CA146980465	451	D>G		No	ClinGen ExAC gnomAD
CA3996489 rs759396438	451	D>V		No	ClinGen ExAC gnomAD
rs147567620 CA3996490	455	E>Q		No	ClinGen ESP ExAC gnomAD
CA365635916 rs1490892339	460	L>S		No	ClinGen TOPMed gnomAD
CA146980468 rs751948297	461	P>L		No	ClinGen Ensembl
rs1584396500 CA365635939	464	A>E		No	ClinGen Ensembl
CA365635969 rs1237884124	468	K>N		No	ClinGen gnomAD
rs141987480 CA3996491	468	K>R		No	ClinGen ESP ExAC gnomAD
CA365635966 rs141987480	468	K>T		No	ClinGen ESP ExAC gnomAD
CA365635974 rs1466226812	469	V>A		No	ClinGen TOPMed
rs1343907480 CA365636188	470	K>Q		No	ClinGen TOPMed
rs1013093377 CA146981027	471	P>L		No	ClinGen TOPMed gnomAD
CA365636223 rs1191883733	472	P>S		No	ClinGen TOPMed gnomAD
rs760580302 CA3996511	475	F>V		No	ClinGen ExAC gnomAD
CA365636297 rs1387147027	476	Q>L		No	ClinGen TOPMed
CA3996512 rs764129832	477	K>E		No	ClinGen ExAC gnomAD
TCGA novel	479	M>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs952337081 CA146981031	479	M>V		No	ClinGen TOPMed gnomAD
rs1412077038 CA365636351	480	K>M		No	ClinGen TOPMed gnomAD
rs1412077038 CA365636350	480	K>R		No	ClinGen TOPMed gnomAD
CA146981034 rs985407556	483	V>I		No	ClinGen TOPMed
CA3996515 rs756848548	484	V>I		No	ClinGen ExAC gnomAD
CA3996514 rs756848548	484	V>L		No	ClinGen ExAC gnomAD
rs1176846393 CA365636386	486	K>E		No	ClinGen TOPMed
CA365636404 rs1481270406	488	N>I		No	ClinGen TOPMed
rs370195277 CA3996517	489	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA365636425 rs374456402	490	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs374456402 CA3996518	490	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1330884147 CA365636511	495	A>V		No	ClinGen gnomAD
CA3996520 rs770171875	496	T>A		No	ClinGen ExAC gnomAD
rs778414495 CA3996521	497	V>A		No	ClinGen ExAC
CA365636537 rs1207446896	498	A>T		No	ClinGen TOPMed
CA365636546 rs1562298234	498	A>V		No	ClinGen Ensembl
rs145851938 CA146981044	499	D>E		No	ClinGen ESP ExAC
rs1216212511 CA365636590	501	D>E		No	ClinGen gnomAD
CA3996525 rs759702993	504	R>Q		No	ClinGen ExAC gnomAD
rs774303862 CA3996524	504	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3996552 rs772818740	507	V>I		No	ClinGen ExAC gnomAD
CA365637946 rs1338657326	508	H>N		No	ClinGen gnomAD
CA146982335 rs902241132	508	H>R		No	ClinGen Ensembl
RCV000122575 rs386352323 CA232360	509	F>L		No	ClinGen ClinVar Ensembl dbSNP
CA146982339 rs553837132	510	D>N		No	ClinGen ExAC TOPMed gnomAD
rs553837132 CA3996553	510	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA365637996 rs1245312282	511	G>S		No	ClinGen TOPMed gnomAD
CA365638029 rs1280274980	513	N>D		No	ClinGen gnomAD
rs1467788746 CA365638034	513	N>S		No	ClinGen TOPMed
CA365638028 rs1280274980	513	N>Y		No	ClinGen gnomAD
TCGA novel	514	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3996554 rs766118453	514	N>S		No	ClinGen ExAC gnomAD
rs754595554 CA3996556	516	Y>C		No	ClinGen ExAC gnomAD
CA365638095 rs1582547173	517	D>V		No	ClinGen Ensembl
rs143764737 CA3996557	520	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs754199341 CA3996558	521	D>E		No	ClinGen ExAC gnomAD
CA146982345 rs966590450	522	A>E		No	ClinGen TOPMed
TCGA novel	525	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365638182 rs1254738574	526	D>H		No	ClinGen TOPMed gnomAD
rs1582547263 CA365638187	526	D>V		No	ClinGen Ensembl
CA365638190 rs1461289324	527	I>L		No	ClinGen gnomAD
CA3996559 rs757747306	527	I>T		No	ClinGen ExAC gnomAD
rs1461289324 CA365638192	527	I>V		No	ClinGen gnomAD
TCGA novel	529	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3996561 rs745932674	531	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	536	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA146982352 rs372878819	539	P>A		No	ClinGen ESP TOPMed gnomAD
CA146982355 rs372878819	539	P>S		No	ClinGen ESP TOPMed gnomAD
CA365638308 rs1156471641	544	L>F		No	ClinGen gnomAD
rs750861750 CA3996580	546	P>A		No	ClinGen ExAC gnomAD
TCGA novel	548	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780059422 CA3996582	550	M>I		No	ClinGen ExAC gnomAD
rs758934574 CA3996581	550	M>V		No	ClinGen ExAC gnomAD
rs751640499 CA3996583	551	E>D		No	ClinGen ExAC gnomAD
CA365638365 rs1406997019	551	E>Q		No	ClinGen gnomAD
rs200390193 CA146982636	555	H>R		No	ClinGen 1000Genomes gnomAD
CA365638403 rs1432978848	557	G>R		No	ClinGen gnomAD
rs1193559822 CA365638414	558	C>F		No	ClinGen gnomAD
CA365638412 rs1193559822	558	C>Y		No	ClinGen gnomAD
CA146982639 rs41285302	559	S>L		No	ClinGen TOPMed gnomAD
CA3996585 rs141824361	561	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141824361 CA3996586	561	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1456217519 CA365638457	565	G>E		No	ClinGen TOPMed
TCGA novel	567	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	567	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1432350408 CA365638477	568	H>R		No	ClinGen gnomAD
rs533560529 CA3996588	570	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1433504295 CA365638492	570	K>R		No	ClinGen Ensembl
COSM740189 rs749202131 CA3996589	571	R>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA365638505 rs773877284	572	A>G		No	ClinGen ExAC TOPMed gnomAD
CA3996591 rs189230347	572	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773877284 CA3996592	572	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1390340956 CA365638508	573	R>K		No	ClinGen gnomAD
rs369892361 CA3996594	574	H>R		No	ClinGen ESP ExAC gnomAD
rs1298268031 CA365638529	576	G>A		No	ClinGen gnomAD
CA3996595 rs774944976	577	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3996596 rs760378260	578	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	579	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1296161086 CA365638546	579	S>N		No	ClinGen gnomAD
rs1181826292 CA365639035	580	A>T		No	ClinGen gnomAD
rs775095444 CA3996618	582	N>S		No	ClinGen ExAC TOPMed gnomAD
CA365639058 rs1419836618	583	C>S		No	ClinGen gnomAD
CA146984610 rs866844095	586	S>L		No	ClinGen Ensembl
CA365639089 rs1582575361	588	I>L		No	ClinGen Ensembl
rs1161591355 CA365639094	588	I>T		No	ClinGen gnomAD
rs554263834 CA3996619	589	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554263834 CA365639099	589	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365639103 rs1340478043	590	L>M		No	ClinGen TOPMed
rs1469099645 CA365639114	591	N>S		No	ClinGen gnomAD
rs1033776810 CA146984611	592	K>E		No	ClinGen TOPMed gnomAD
CA3996620 rs768345518	593	D>E		No	ClinGen ExAC gnomAD
CA3996621 rs773534665	594	R>C		No	ClinGen ExAC TOPMed gnomAD
CA146984612 COSM1073183 rs763375416	594	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3996622 rs763375416	594	R>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	595	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3996623 rs766898417	595	I>V		No	ClinGen ExAC TOPMed gnomAD
CA365639148 rs1377835482	596	F>L		No	ClinGen gnomAD
rs1391572802 CA365639155	598	D>Y		No	ClinGen gnomAD
CA3996624 rs774664869	599	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA146984613 rs774664869	599	R>S		No	ClinGen ExAC TOPMed gnomAD
rs767459034 CA3996627	600	L>*		No	ClinGen ExAC gnomAD
CA3996630 rs752847750	602	G>A		No	ClinGen ExAC gnomAD
CA365639185 rs752847750	602	G>D		No	ClinGen ExAC gnomAD
rs145178293 CA3996631	603	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3996632 rs373260138	604	M>V		No	ClinGen ESP ExAC gnomAD
CA365639206 rs1248667731	605	P>L		No	ClinGen gnomAD
CA3996633 rs753668916	606	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757057371 CA3996634	608	S>G		No	ClinGen ExAC gnomAD
CA365639220 rs1468653283	608	S>T		No	ClinGen gnomAD
CA365639230 rs1176016505	609	P>L		No	ClinGen gnomAD
TCGA novel	609	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365639237 rs1462030876	611	F>I		No	ClinGen gnomAD
CA3996636 rs138804881	612	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1415456817 CA365639252	613	R>K		No	ClinGen TOPMed
CA3996637 rs539854233	614	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1283624202 CA365639265	615	K>E		No	ClinGen gnomAD
rs1299378467 CA365639283	617	T>I		No	ClinGen gnomAD
rs1347189063 CA365639291	618	D>E		No	ClinGen gnomAD
TCGA novel	619	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3996638 rs201549001	622	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201549001 CA365639319	622	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3996640 rs746571900	623	S>C		No	ClinGen ExAC gnomAD
CA146984614 rs930214097	623	S>T		No	ClinGen TOPMed
CA365639329 rs1206708052	624	S>Y		No	ClinGen gnomAD
rs768283965 CA3996641	625	S>F		No	ClinGen ExAC TOPMed gnomAD
rs776331279 CA3996642	626	P>A		No	ClinGen ExAC TOPMed gnomAD
rs776331279 CA365639337	626	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1223525991 CA365639350	628	I>F		No	ClinGen gnomAD
CA365639356 rs1327656259	628	I>M		No	ClinGen gnomAD
rs1223525991 CA365639351	628	I>V		No	ClinGen gnomAD
TCGA novel	629	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201762284 CA3996663	632	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs780691654 CA3996662	632	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA146991597 rs913023620	633	A>G		No	ClinGen TOPMed gnomAD
rs368247731 CA3996664	633	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365617864 rs1163736355	635	D>G		No	ClinGen gnomAD
CA3996666 rs542990261	635	D>N		No	ClinGen ExAC gnomAD
CA365617906 rs1293568531	639	D>N		No	ClinGen TOPMed
rs570461107 CA3996669	644	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141990019 CA3996668	644	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA146991634 rs757922602	645	E>D		No	ClinGen TOPMed gnomAD
rs768809428 CA3996671	646	S>R		No	ClinGen ExAC TOPMed gnomAD
CA146991648 rs146332514 COSM1073184	648	M>L	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed
rs1285614379 CA365618090	649	R>K		No	ClinGen TOPMed gnomAD
CA146991651 rs766230271	651	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3996672 rs200569016	652	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3996673 rs556409003	653	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365618151 rs762872112	654	A>G		No	ClinGen ExAC gnomAD
rs750171620 CA3996674	654	A>T		No	ClinGen ExAC TOPMed gnomAD
rs762872112 CA3996675	654	A>V		No	ClinGen ExAC gnomAD
rs766166733 CA3996676	655	R>G		No	ClinGen ExAC
CA365618163 rs751438930	655	R>S		No	ClinGen ExAC gnomAD
rs753483577 CA3996702	656	G>D		No	ClinGen ExAC gnomAD
CA365618166 rs1247934446	656	G>S		No	ClinGen gnomAD
CA147001381 rs1000402372	657	A>V		No	ClinGen Ensembl
rs139309886 CA3996704	658	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM150182 rs200041079 CA3996703	658	R>W	stomach [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA147001424 rs901170995	659	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3996708 rs748606569 COSM1212948	663	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3996710 rs773185664	664	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA365620104 rs1225777311	664	Q>R		No	ClinGen gnomAD
TCGA novel	667	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365620225 rs1344996050	668	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA365620229 rs1199384342	668	R>H		No	ClinGen TOPMed gnomAD
COSM740186 rs1199384342 CA365620248	668	R>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs749485551 CA3996711	669	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM107700 rs147285850 CA147001474	669	R>W	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA365620285 rs1202620547	671	A>P		No	ClinGen gnomAD
rs771181116 CA3996712	672	V>A		No	ClinGen ExAC gnomAD
CA365620305 rs1250751203	672	V>I		No	ClinGen gnomAD
rs774108074 CA3996713	673	F>S		No	ClinGen ExAC gnomAD
rs759380435 CA3996714	675	S>P		No	ClinGen ExAC gnomAD
COSM3662137 rs532276510 CA3996716	676	F>L	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA365620529 rs763623021	680	I>F		No	ClinGen ExAC TOPMed gnomAD
CA3996718 rs763623021	680	I>V		No	ClinGen ExAC TOPMed gnomAD
rs753331411 CA3996719	682	C>R		No	ClinGen ExAC gnomAD
TCGA novel	683	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs570730202 CA3996722	685	L>S		No	ClinGen ExAC gnomAD
CA3996724 rs144557707	686	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs769544082 COSM3697498 CA365620682	686	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3996725 rs769544082	686	R>L		No	ClinGen ExAC TOPMed gnomAD
CA147001638 rs769544082	686	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3996723 rs144557707	686	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs984272854 CA147001639	689	Q>H		No	ClinGen TOPMed gnomAD
rs765524746 CA147001644	691	S>G		No	ClinGen Ensembl
CA365620835 rs756608948	692	K>N		No	ClinGen ExAC gnomAD
rs749415822 CA3996728	698	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3996729 rs771125892	700	I>T		No	ClinGen ExAC gnomAD
CA3996730 rs774618803	701	P>A		No	ClinGen ExAC gnomAD
rs746106619 CA3996731	701	P>R		No	ClinGen ExAC gnomAD
CA365621044 rs1412992403	704	K>E		No	ClinGen TOPMed
CA365621051 rs1168104194	704	K>I		No	ClinGen TOPMed gnomAD
CA365621086 rs1168849249	706	S>Y		No	ClinGen TOPMed
TCGA novel	707	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365621142 rs1386091313	709	S>N		No	ClinGen gnomAD
CA365621190 COSM1073186 rs1463889794	712	E>K	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1379298588 CA365621308	713	V>L		No	ClinGen gnomAD
rs772226377 CA3996752	719	S>R		No	ClinGen ExAC gnomAD
rs1339564881 CA365621563	722	G>R		No	ClinGen gnomAD
rs867778549 CA147001953	724	E>K		No	ClinGen Ensembl
rs779878464 CA3996753	728	K>R		No	ClinGen ExAC gnomAD
CA3996754 rs746840211	729	V>A		No	ClinGen ExAC gnomAD
rs969532309 CA147001986	729	V>L		No	ClinGen TOPMed
TCGA novel	731	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	738	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757796780 CA3996771	741	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs148473840 CA3996773	746	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	747	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs959591893 CA147007444	749	V>I		No	ClinGen TOPMed
CA3996774 rs758635088	753	S>C		No	ClinGen ExAC gnomAD
TCGA novel	757	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1431950511 CA365623597	759	A>V		No	ClinGen gnomAD
TCGA novel	760	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365623599 rs1302487093	760	L>V		No	ClinGen TOPMed
rs768279116 CA3996777	764	N>S		No	ClinGen ExAC gnomAD
rs781156018 CA3996778	768	M>V		No	ClinGen ExAC gnomAD
CA3996782 rs772824723	773	E>Q		No	ClinGen ExAC TOPMed
rs368069436 CA3996783	774	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1408980430 CA365623773	776	S>P		No	ClinGen gnomAD
rs770610089 CA3996785	778	N>S		No	ClinGen ExAC gnomAD

No associated diseases with Q96JM7

5 regional properties for Q96JM7

Type	Name	Position	InterPro Accession
domain	Sterile alpha motif domain	705 - 772	IPR001660
repeat	Zinc finger, C2H2C-type	549 - 593	IPR002515
repeat	Mbt repeat	232 - 336	IPR004092-1
repeat	Mbt repeat	340 - 442	IPR004092-2
repeat	Mbt repeat	448 - 544	IPR004092-3

Functions

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

3 GO annotations of cellular component

Name	Definition
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
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.

4 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.
zinc ion binding	Binding to a zinc ion (Zn).

6 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.
erythrocyte maturation	A developmental process, independent of morphogenetic (shape) change, that is required for an erythrocyte to attain its fully functional state.
granulocyte differentiation	The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils.
macrophage differentiation	The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage.
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 DNA methylation-dependent heterochromatin assembly	Any process that modulates the rate, frequency, or extent of DNA methylation-dependent heterochromatin formation.

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
Q9Y468	L3MBTL1	Lethal(3)malignant brain tumor-like protein 1	Homo sapiens (Human)	PR
Q9UHJ3	SFMBT1	Scm-like with four MBT domains protein 1	Homo sapiens (Human)	PR
A2A5N8	L3mbtl1	Lethal(3)malignant brain tumor-like protein 1	Mus musculus (Mouse)	PR
Q9JMD1	Sfmbt1	Scm-like with four MBT domains protein 1	Mus musculus (Mouse)	PR
Q8BLB7	L3mbtl3	Lethal(3)malignant brain tumor-like protein 3	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
MTESASSTSG	QEFDVFSVMD	WKDGVGTLPG	SDLKFRVNEF	GALEVITDEN	EMENVKKATA
70	80	90	100	110	120
TTTWMVPTAQ	EAPTSPPSSR	PVFPPAYWTS	PPGCPTVFSE	KTGMPFRLKD	PVKVEGLQFC
130	140	150	160	170	180
ENCCQYGNVD	ECLSGGNYCS	QNCARHIKDK	DQKEERDVEE	DNEEEDPKCS	RKKKPKLSLK
190	200	210	220	230	240
ADTKEDGEER	DDEMENKQDV	RILRGSQRAR	RKRRGDSAVL	KQGLPPKGKK	AWCWASYLEE
250	260	270	280	290	300
EKAVAVPAKL	FKEHQSFPYN	KNGFKVGMKL	EGVDPEHQSV	YCVLTVAEVC	GYRIKLHFDG
310	320	330	340	350	360
YSDCYDFWVN	ADALDIHPVG	WCEKTGHKLH	PPKGYKEEEF	NWQTYLKTCK	AQAAPKSLFE
370	380	390	400	410	420
NQNITVIPSG	FRVGMKLEAV	DKKNPSFICV	ATVTDMVDNR	FLVHFDNWDE	SYDYWCEASS
430	440	450	460	470	480
PHIHPVGWCK	EHRRTLITPP	GYPNVKHFSW	DKYLEETNSL	PAPARAFKVK	PPHGFQKKMK
490	500	510	520	530	540
LEVVDKRNPM	FIRVATVADT	DDHRVKVHFD	GWNNCYDYWI	DADSPDIHPV	GWCSKTGHPL
550	560	570	580	590	600
QPPLSPLELM	EASEHGGCST	PGCKGIGHFK	RARHLGPHSA	ANCPYSEINL	NKDRIFPDRL
610	620	630	640	650	660
SGEMPPASPS	FPRNKRTDAN	ESSSSPEIRD	QHADDVKEDF	EERTESEMRT	SHEARGAREE
670	680	690	700	710	720
PTVQQAQRRS	AVFLSFKSPI	PCLPLRWEQQ	SKLLPTVAGI	PASKVSKWST	DEVSEFIQSL
730	740	750	760	770
PGCEEHGKVF	KDEQIDGEAF	LLMTQTDIVK	IMSIKLGPAL	KIFNSILMFK	AAEKNSHNEL