AiPD: Autoinhibited Protein Database

Q99549

Gene name	MPHOSPH8
Protein name	M-phase phosphoprotein 8
Names	Two hybrid-associated protein 3 with RanBPM, Twa3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54737
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

104-174 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

104-174 (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

7 structures for Q99549

Entry ID	Method	Resolution	Chain	Position	Source
3LWE	X-ray	205 A	A/B	55-116	PDB
3QO2	X-ray	249 A	A/B/C/D	55-116	PDB
3R93	X-ray	206 A	A/B/C/D	55-116	PDB
3SVM	X-ray	231 A	A	55-116	PDB
6V2S	X-ray	160 A	A/B	55-116	PDB
7M5U	X-ray	202 A	A	55-116	PDB
AF-Q99549-F1	Predicted				AlphaFoldDB

666 variants for Q99549

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6901362 rs548773739	2	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1409710553 CA387665174	2	E>K		No	ClinGen gnomAD
rs566133288 CA387665182	3	Q>*		No	ClinGen ExAC gnomAD
rs566133288 CA6901363	3	Q>E		No	ClinGen ExAC gnomAD
CA387665188 rs1394893273	4	V>I		No	ClinGen gnomAD
CA387665194 rs1443066709	5	A>T		No	ClinGen gnomAD
rs749787960 CA6901364	5	A>V		No	ClinGen ExAC gnomAD
CA387665210 rs1238429527	7	G>E		No	ClinGen TOPMed gnomAD
rs1238429527 CA387665212	7	G>V		No	ClinGen TOPMed gnomAD
rs1280154137 CA387665214	8	A>P		No	ClinGen gnomAD
CA387665218 rs1353140785	8	A>V		No	ClinGen gnomAD
rs1289671870 CA387665219	9	R>G		No	ClinGen gnomAD
TCGA novel	9	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387665226 rs1364480710	10	V>M		No	ClinGen TOPMed
rs763545081 CA246719071	11	T>A		No	ClinGen gnomAD
CA387665236 rs1216156691	11	T>I		No	ClinGen TOPMed gnomAD
rs146735121 CA6901366	12	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs865869170 CA246719072	12	A>T		No	ClinGen Ensembl
rs146735121 CA246719074	12	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772089186 CA6901368	14	P>T		No	ClinGen ExAC gnomAD
CA246719092 rs967712386 CA387665251	15	V>L		No	ClinGen TOPMed
rs967712386 CA387665252	15	V>M		No	ClinGen TOPMed
CA6901369 rs773464705	16	S>L		No	ClinGen ExAC gnomAD
rs1445904199 CA387665271	18	A>G		No	ClinGen gnomAD
rs1462814716 CA387665267	18	A>T		No	ClinGen gnomAD
rs775360707 CA6901372	20	S>I		No	ClinGen ExAC
TCGA novel	20	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762856981 CA6901373	20	S>R		No	ClinGen ExAC TOPMed gnomAD
rs764072513 CA387665287	21	T>A		No	ClinGen ExAC TOPMed gnomAD
rs764072513 CA6901374	21	T>P		No	ClinGen ExAC TOPMed gnomAD
rs112488302 CA246719102	22	E>G		No	ClinGen Ensembl
rs774185324 CA6901375	23	E>D		No	ClinGen ExAC gnomAD
CA387665307 rs1593461524	24	L>V		No	ClinGen Ensembl
rs139734802 CA6901376	25	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA387665318 rs1292895559	26	E>K		No	ClinGen gnomAD
CA387665322 rs1335997647	26	E>V		No	ClinGen TOPMed gnomAD
rs1057088 CA246719111	27	V>D		No	ClinGen Ensembl
rs1235532323 CA387665326	27	V>I		No	ClinGen gnomAD
TCGA novel	29	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6901379 rs750073057	30	G>E		No	ClinGen ExAC TOPMed gnomAD
rs766984872 CA6901378	30	G>R		No	ClinGen ExAC gnomAD
CA6901380 rs755828085	31	V>D		No	ClinGen ExAC gnomAD
CA246719118 rs1050934661	31	V>I		No	ClinGen Ensembl
CA387665365 rs1440173956	33	V>A		No	ClinGen gnomAD
CA387665371 rs1593461580	34	V>G		No	ClinGen Ensembl
CA6901381 rs766021897	34	V>M		No	ClinGen ExAC gnomAD
rs1201885734 CA387665376	35	G>V		No	ClinGen TOPMed
CA387665380 rs1246237127	36	E>*		No	ClinGen TOPMed
rs1246237127 CA387665379	36	E>Q		No	ClinGen TOPMed
CA387665383 rs1309847573	36	E>V		No	ClinGen TOPMed
CA387665390 rs1256736910	37	D>G		No	ClinGen TOPMed
rs1593461612 CA387665406	39	D>A		No	ClinGen Ensembl
rs748655472 CA6901385	42	A>E		No	ClinGen ExAC
CA6901384 rs779448685	42	A>S		No	ClinGen ExAC TOPMed gnomAD
CA387665426 rs1169561090	43	R>G		No	ClinGen gnomAD
rs1215953528 CA387665428	43	R>K		No	ClinGen gnomAD
CA6901386 rs758491809	44	G>E		No	ClinGen ExAC gnomAD
CA387665437 rs758491809	44	G>V		No	ClinGen ExAC gnomAD
rs1412826606 CA387665449	46	E>V		No	ClinGen gnomAD
CA246719150 rs1036414214	47	A>T		No	ClinGen gnomAD
rs899291580 CA246719155	49	G>D		No	ClinGen TOPMed
rs1276732788 CA387665478	51	S>G		No	ClinGen gnomAD
CA387665480 rs1276732788	51	S>R		No	ClinGen gnomAD
CA246719176 rs759629606	54	D>A		No	ClinGen TOPMed gnomAD
CA246719178 rs759629606	54	D>G		No	ClinGen TOPMed gnomAD
rs759629606 CA387665505	54	D>V		No	ClinGen TOPMed gnomAD
CA387665511 rs1329264048	55	G>A		No	ClinGen TOPMed
CA387665510 rs1329264048	55	G>E		No	ClinGen TOPMed
CA6901389 rs752612246	55	G>R		No	ClinGen Ensembl
CA387665515 rs1343406543	56	E>*		No	ClinGen gnomAD
CA6901392 rs777013902	57	D>G		No	ClinGen ExAC gnomAD
CA387665556 rs1262269622	62	E>K		No	ClinGen gnomAD
rs905433183 CA246719224	63	K>R		No	ClinGen Ensembl
CA6901399 rs760187859	67	M>I		No	ClinGen ExAC gnomAD
rs554482845 CA6901398	67	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1253252336 CA387665592	67	M>T		No	ClinGen gnomAD
rs554482845 CA246719235	67	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1420427036 CA387665604	68	K>N		No	ClinGen gnomAD
CA387665610 rs1436859357	69	T>I		No	ClinGen TOPMed gnomAD
CA387665613 rs1384769743	70	E>*		No	ClinGen gnomAD
rs755317846 CA6901402	71	G>A		No	ClinGen ExAC gnomAD
CA387665620 rs753531457 CA6901401	71	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1166026873 CA387433204	72	G>C		No	ClinGen gnomAD
rs931213994 CA246393313	73	K>T		No	ClinGen TOPMed gnomAD
CA6901432 rs142067434	74	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6901433 rs777668517	75	L>F		No	ClinGen ExAC TOPMed gnomAD
rs200202398 CA6901434	77	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6901435 rs770427196	78	V>I		No	ClinGen ExAC gnomAD
rs776052318 CA6901436	79	R>C		No	ClinGen ExAC gnomAD
CA387433247 rs1160996250	79	R>H		No	ClinGen TOPMed
rs776052318 CA387433245	79	R>S		No	ClinGen ExAC gnomAD
rs769283060 CA6901438	82	G>S		No	ClinGen ExAC gnomAD
TCGA novel	84	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377735940 CA6901440	85	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA387433297 rs1480991485	86	D>E		No	ClinGen gnomAD
TCGA novel	87	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1013696243 CA246393326	89	T>S		No	ClinGen Ensembl
CA387433377 rs1474967773	93	E>D		No	ClinGen gnomAD
CA6901443 rs762476495	93	E>K		No	ClinGen ExAC gnomAD
CA387433497 rs1476679890	103	L>F		No	ClinGen TOPMed
TCGA novel	107	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387433601 rs1420426396	109	K>R		No	ClinGen gnomAD
CA387433631 rs1170335686	111	A>S		No	ClinGen gnomAD
rs1354671250 CA387433674	113	N>K		No	ClinGen gnomAD
CA387433710 rs1474033505	115	A>V		No	ClinGen gnomAD
rs750468943 CA6901445	119	R>G		No	ClinGen ExAC gnomAD
CA387433785 rs1414975941	119	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766470217 CA6901447	123	Q>R		No	ClinGen ExAC gnomAD
rs1192283066 CA387435421	125	L>V		No	ClinGen gnomAD
rs755564389 CA6901476	130	D>N		No	ClinGen ExAC gnomAD
CA387435513 rs1272254844	131	I>R		No	ClinGen TOPMed
rs1405356339 CA387435528	133	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	133	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387435545 rs149912855	134	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	134	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6901477 rs149912855	134	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6901481 rs774165997	139	D>N		No	ClinGen ExAC gnomAD
CA6901480 rs774165997	139	D>Y		No	ClinGen ExAC gnomAD
rs1213195030 CA387435618	140	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs772602122 CA6901482	140	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1335210631 CA387435631	141	Q>E		No	ClinGen TOPMed
CA6901483 rs773582304	143	E>K		No	ClinGen ExAC gnomAD
rs866471500 CA246395058	144	T>K		No	ClinGen TOPMed
rs144940100 CA6901484	145	K>E		No	ClinGen ESP
rs1305647737 CA387435711	147	D>N		No	ClinGen gnomAD
CA6901486 rs550375794	148	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs771349676 CA6901487	148	T>I		No	ClinGen ExAC gnomAD
CA246395061 rs1057093	149	S>F		No	ClinGen gnomAD
rs1057093 CA387435728	149	S>Y		No	ClinGen gnomAD
CA6901488 rs776719535	150	P>L		No	ClinGen ExAC TOPMed gnomAD
rs371181258 CA246395065	150	P>T		No	ClinGen Ensembl
CA6901489 rs759635695	151	K>N		No	ClinGen ExAC gnomAD
rs939959852 CA246395078	152	K>E		No	ClinGen TOPMed gnomAD
rs765405363 CA6901490	154	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765405363 CA387435793	154	K>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	157	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752958572 CA6901491	157	L>W		No	ClinGen ExAC TOPMed gnomAD
rs1230632892 CA387435882	160	R>I		No	ClinGen gnomAD
rs1160887290 COSM3936251 CA387435914	162	E>D	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
rs761571528 CA6901492	162	E>G		No	ClinGen ExAC gnomAD
CA387435960 rs1468185694	166	D>N		No	ClinGen TOPMed
rs767401598 CA6901493	167	D>V		No	ClinGen ExAC gnomAD
CA387435997 rs1188178566	168	L>P		No	ClinGen TOPMed
CA387435993 rs1231770198	168	L>V		No	ClinGen TOPMed
TCGA novel	169	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1443999375 CA387436007	169	K>R		No	ClinGen TOPMed
rs1270292943 CA387436090	175	A>S		No	ClinGen TOPMed
rs377501756 CA6901497	176	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1485305630 CA387436122	177	K>N		No	ClinGen gnomAD
rs1050023244 CA246395113	177	K>R		No	ClinGen TOPMed
CA387436158 rs1325646466	180	D>G		No	ClinGen gnomAD
CA387436167 rs1334034233	181	K>E		No	ClinGen gnomAD
CA387436196 rs1280352907	184	P>L		No	ClinGen TOPMed gnomAD
CA387436195 rs1280352907	184	P>R		No	ClinGen TOPMed gnomAD
rs1184563688 CA387436193	184	P>S		No	ClinGen gnomAD
rs1336629181 CA387436204	185	D>E		No	ClinGen TOPMed
rs1375714556 CA387436201	185	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	186	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387436223 rs1231857631	188	S>N		No	ClinGen gnomAD
CA6901498 rs753336174	189	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1216067377 CA387436335	197	L>F		No	ClinGen gnomAD
CA6901499 rs754563540	197	L>V		No	ClinGen ExAC gnomAD
rs1421332338 CA387436382	201	K>E		No	ClinGen gnomAD
CA387436390 rs1182168394	201	K>N		No	ClinGen TOPMed gnomAD
rs150849833 CA6901500	201	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6901501 rs747870349	202	R>I		No	ClinGen ExAC TOPMed gnomAD
CA6901502 rs747870349	202	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1473989482 CA387436426	204	S>C		No	ClinGen gnomAD
rs1172981316 CA387436437	205	E>G		No	ClinGen gnomAD
CA387436449 rs1163400138	206	A>T		No	ClinGen TOPMed
CA387436496 rs1186987225	209	E>*		No	ClinGen gnomAD
CA387436510 rs1418257101	210	L>I		No	ClinGen gnomAD
rs778136556 CA6901504	213	S>C		No	ClinGen ExAC TOPMed gnomAD
CA387436571 rs1394504936	214	K>E		No	ClinGen gnomAD
TCGA novel	214	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	216	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387436647 rs1446710840	219	D>E		No	ClinGen TOPMed
rs551537043 CA6901506	219	D>G		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	219	D>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387436661 rs1356483305	220	E>D		No	ClinGen gnomAD
rs145920125 CA6901507	220	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6901509 rs769913849	222	K>E		No	ClinGen ExAC TOPMed gnomAD
rs867446648 CA246395147	222	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs775673965 CA6901510	223	E>K		No	ClinGen ExAC gnomAD
CA608983577 rs1195888429	225	K>Y		No	ClinGen gnomAD
TCGA novel	226	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866202479 CA246395154	226	E>D		No	ClinGen Ensembl
rs866907025 CA246395169	227	L>*		No	ClinGen Ensembl
CA387436813 rs1258033067	232	K>R		No	ClinGen gnomAD
CA387436812 rs1258033067	232	K>T		No	ClinGen gnomAD
rs1190669788 CA387436822	233	G>A		No	ClinGen gnomAD
rs750170951 CA6901513	234	E>K		No	ClinGen ExAC gnomAD
rs1428845339 CA387436834	235	I>T		No	ClinGen gnomAD
TCGA novel	237	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387436859 rs1430454096	239	K>Q		No	ClinGen TOPMed
CA6901516 rs766299587	240	T>K		No	ClinGen ExAC TOPMed gnomAD
CA6901515 rs766299587	240	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1312490204 CA387436872	241	K>E		No	ClinGen gnomAD
TCGA novel	244	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	245	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6901519 rs778635541	245	D>N		No	ClinGen ExAC gnomAD
rs1406637624 CA387436911	246	P>L		No	ClinGen TOPMed
TCGA novel	246	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387436913 rs1316609780	247	K>Q		No	ClinGen TOPMed gnomAD
rs138867095 CA6901520	247	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1228744310 CA387436928	249	N>H		No	ClinGen gnomAD
CA246395221 rs199970108	252	T>K		No	ClinGen Ensembl
TCGA novel	255	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	255	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387436981 rs1565935512	256	K>E		No	ClinGen Ensembl
CA6901524 rs747363130	257	F>L		No	ClinGen ExAC gnomAD
rs373405714 CA6901523	257	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6901525 rs771243212	258	V>A		No	ClinGen ExAC gnomAD
rs1260725114 CA387437004	259	E>D		No	ClinGen gnomAD
CA6901527 rs746430788	259	E>K		No	ClinGen ExAC gnomAD
rs138933311 CA6901528	260	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387437015 rs1195207331	261	Q>R		No	ClinGen gnomAD
rs983812411 CA246395255	264	S>P		No	ClinGen TOPMed
TCGA novel	264	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387437039 rs1489886889	265	E>Q		No	ClinGen TOPMed
rs749379197 CA6901530	267	S>G		No	ClinGen ExAC gnomAD
CA6901531 rs768873811	267	S>N		No	ClinGen ExAC TOPMed gnomAD
rs774467966 CA6901532	267	S>R		No	ClinGen ExAC TOPMed gnomAD
CA387437062 rs1345019767	268	V>A		No	ClinGen TOPMed
CA387437064 rs1467731684	269	L>V		No	ClinGen gnomAD
TCGA novel	271	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6901534 rs370459342	271	D>G		No	ClinGen ESP ExAC gnomAD
CA6901533 rs556319750	271	D>H		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	273	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6901535 rs776707000	273	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs759481103 CA6901538	274	F>C		No	ClinGen ExAC gnomAD
rs1303436998 CA387437115	277	D>N		No	ClinGen gnomAD
CA387437127 rs1313617739	278	D>G		No	ClinGen gnomAD
rs757881700 CA6901541	279	S>R		No	ClinGen ExAC TOPMed gnomAD
CA6901540 rs752206706	279	S>T		No	ClinGen ExAC gnomAD
rs1351118193 CA387437144	280	E>D		No	ClinGen gnomAD
CA387437145 rs1210591406	281	G>W		No	ClinGen gnomAD
rs781600714 CA6901545	285	D>N		No	ClinGen ExAC TOPMed gnomAD
rs756552251 CA6901547	286	S>N		No	ClinGen ExAC TOPMed gnomAD
rs780556723 CA6901548	287	R>K		No	ClinGen ExAC TOPMed gnomAD
rs776701900 CA6901550	289	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1161752271 CA387437203	289	E>G		No	ClinGen TOPMed gnomAD
rs1326040829 CA387437231	293	T>A		No	ClinGen TOPMed gnomAD
rs748375206 CA6901552	294	K>E		No	ClinGen ExAC gnomAD
rs772345374 CA6901553	294	K>R		No	ClinGen ExAC gnomAD
rs776512048 CA6901554	295	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1425548564 CA387437253	296	A>V		No	ClinGen TOPMed
rs1230021398 CA387437256	297	R>K		No	ClinGen gnomAD
rs552475791 CA246395335	298	E>G		No	ClinGen Ensembl
TCGA novel	300	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	300	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6901558 rs376037584	302	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs985338371 CA246395345	303	D>V		No	ClinGen TOPMed gnomAD
rs763572619 CA6901560	305	G>E		No	ClinGen ExAC TOPMed gnomAD
CA6901561 rs557975926	306	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	307	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6901563 rs767167222	308	H>R		No	ClinGen ExAC TOPMed gnomAD
CA387437337 rs1184824745	309	G>D		No	ClinGen gnomAD
CA387437368 rs1224969523	313	P>L		No	ClinGen TOPMed
rs946800489 CA246395371	313	P>S		No	ClinGen TOPMed
CA6901565 rs756501460	314	L>I		No	ClinGen ExAC gnomAD
TCGA novel	315	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387437377 rs1351179570	315	D>G		No	ClinGen TOPMed gnomAD
CA6901568 rs200779752	318	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6901567 rs141397171	318	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1396799744 CA387437420	319	S>N		No	ClinGen gnomAD
rs143598219 CA246395381	320	A>G		No	ClinGen ESP ExAC
CA387437428 rs1411232432	320	A>T		No	ClinGen gnomAD
rs143598219 CA6901569	320	A>V		No	ClinGen ESP ExAC
CA6901571 rs772372362	321	E>D		No	ClinGen ExAC gnomAD
CA6901570 rs148094292	321	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6901574 rs150644808 COSM945765	325	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs138850698 CA6901577	326	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs138850698 CA6901576	326	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6901578 rs528849658	328	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA6901579 rs761404583	329	R>G		No	ClinGen ExAC
CA6901580 rs767112361	330	R>G		No	ClinGen ExAC gnomAD
CA387438550 rs1255917828	330	R>K		No	ClinGen TOPMed gnomAD
rs1485545631 CA387438567	331	K>E		No	ClinGen gnomAD
rs1182740802 CA387438572	331	K>R		No	ClinGen gnomAD
rs761005097 CA6901583	335	P>A		No	ClinGen ExAC TOPMed gnomAD
CA6901584 rs766787009	335	P>L		No	ClinGen ExAC TOPMed gnomAD
CA387438679 rs1310686224	336	R>K		No	ClinGen gnomAD
CA387438760 rs1248442612	339	E>G		No	ClinGen TOPMed
rs1161604732 CA387438823	341	T>A		No	ClinGen TOPMed gnomAD
CA6901587 rs779498017	341	T>I		No	ClinGen ExAC TOPMed gnomAD
rs758591755 CA6901589	342	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6901590 rs778122908	343	E>K		No	ClinGen ExAC gnomAD
TCGA novel	347	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6901591 rs747296725	348	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1440703265 CA387439017	349	N>D		No	ClinGen TOPMed gnomAD
rs201016069 CA6901592	350	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1485202118 CA387439125	352	A>D		No	ClinGen gnomAD
rs146349999 CA6901594	352	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1186422883 CA387439416	364	R>S		No	ClinGen gnomAD
rs1450790733 CA387439433	365	N>S		No	ClinGen gnomAD
CA387439429 rs1248172729	365	N>Y		No	ClinGen gnomAD
CA246395502 rs139681000	369	S>T		No	ClinGen ESP
TCGA novel	372	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1400316485 CA387439676	376	E>D		No	ClinGen Ensembl
rs774372548 CA6901598	380	P>L		No	ClinGen ExAC gnomAD
CA387439744 rs1450233120	380	P>S		No	ClinGen TOPMed
rs1405032676 CA387439752 COSM162550	381	V>I	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
rs761196569 CA6901599	382	S>C		No	ClinGen ExAC gnomAD
CA6901601 rs772836023	383	A>D		No	ClinGen ExAC gnomAD
rs566681314 CA6901600	383	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6901603 rs368354077	384	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368354077 CA6901602	384	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1365696 rs1437386376 CA387439858	385	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA6901605 rs549234655	387	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA6901606 rs142808828	389	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs191299359 CA6901608	389	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6901607 rs142808828	389	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374601795 CA387439963	390	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6901611 rs757494047 CA387440023	393	G>R		No	ClinGen ExAC TOPMed gnomAD
CA387440030 rs757494047	393	G>W		No	ClinGen ExAC TOPMed gnomAD
CA6901614 rs754838176	394	E>G		No	ClinGen ExAC gnomAD
CA6901613 rs748992567	394	E>Q		No	ClinGen ExAC gnomAD
CA246395546 CA6901616 rs144379781	395	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs183665467 CA6901619	401	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387440216 rs1159548036	401	T>M		No	ClinGen TOPMed gnomAD
rs1288481895 CA387440224	402	D>N		No	ClinGen TOPMed
rs759798225 CA6901622	405	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6901623 rs765695075	405	E>V		No	ClinGen ExAC TOPMed gnomAD
rs775860987 CA6901624	406	E>K		No	ClinGen ExAC gnomAD
rs458210 CA6901641	410	T>A		No	ClinGen ESP ExAC gnomAD
CA246395912 rs892390976	410	T>I		No	ClinGen Ensembl
CA246395906 rs458210	410	T>P		No	ClinGen ESP ExAC gnomAD
CA387440495 rs1409001743	411	K>*		No	ClinGen gnomAD
rs775943152 CA6901643	412	R>I		No	ClinGen ExAC gnomAD
CA6901642 rs775943152	412	R>K		No	ClinGen ExAC gnomAD
rs1436907641 CA387440532	413	N>S		No	ClinGen gnomAD
rs1205405332 CA387440542	414	E>K		No	ClinGen gnomAD
CA246395920 rs1009378174	415	S>C		No	ClinGen Ensembl
CA387440575 rs1373941389	416	K>E		No	ClinGen TOPMed
rs1170718082 CA387440584	416	K>R		No	ClinGen TOPMed
CA6901644 rs764652961	419	Y>F		No	ClinGen ExAC gnomAD
CA387440640 rs1484565739	419	Y>H		No	ClinGen gnomAD
CA6901645 rs372838397	420	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1473713219 CA387440661	420	Q>R		No	ClinGen gnomAD
rs1165112292 CA387440693	422	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	422	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA246395930 rs368278971	423	H>R		No	ClinGen Ensembl
rs761957511 CA6901646	423	H>Y		No	ClinGen ExAC gnomAD
rs767693564 CA6901647	424	D>N		No	ClinGen ExAC gnomAD
rs1372566210 CA387440745	425	S>C		No	ClinGen TOPMed gnomAD
CA387440747 rs1372566210	425	S>F		No	ClinGen TOPMed gnomAD
CA387440736 rs1308854813	425	S>T		No	ClinGen gnomAD
CA387440788 rs1413333092	428	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs371703351 CA246395964	432	R>S		No	ClinGen ESP TOPMed
rs1490360542 CA387440897	434	E>V		No	ClinGen TOPMed
CA387440954 rs750606222	437	G>A		No	ClinGen ExAC TOPMed gnomAD
CA246395966 rs750606222	437	G>E		No	ClinGen ExAC TOPMed gnomAD
CA6901648 rs750606222	437	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1022086863 CA246395970	438	L>*		No	ClinGen Ensembl
CA387440971 rs1488041688	438	L>F		No	ClinGen TOPMed
CA246396691 rs992368680	440	T>I		No	ClinGen Ensembl
rs772460610 CA6901671	442	K>R		No	ClinGen ExAC gnomAD
rs773283220 CA387441994	443	E>D		No	ClinGen ExAC gnomAD
rs760701331 CA6901673	444	I>V		No	ClinGen ExAC gnomAD
CA246396706 rs1020633326	447	A>T		No	ClinGen TOPMed gnomAD
rs1467905698 CA387442085	449	D>Y		No	ClinGen gnomAD
TCGA novel	450	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387442109 rs1233071466	451	F>L		No	ClinGen TOPMed
rs1318047055 CA387442219	456	E>G		No	ClinGen TOPMed
TCGA novel	457	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754108369 CA6901675	458	K>E		No	ClinGen ExAC gnomAD
rs762723818 CA6901676	459	N>I		No	ClinGen ExAC TOPMed gnomAD
rs762723818 CA6901677	459	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6901679 rs757163839	460	D>E		No	ClinGen ExAC gnomAD
CA387442311 rs75390100	460	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs75390100 CA6901678	460	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1385936776 CA387442354	461	V>G		No	ClinGen gnomAD
rs1003219793 CA246396740	464	N>D		No	ClinGen TOPMed gnomAD
rs781017378 CA6901680	464	N>I		No	ClinGen ExAC gnomAD
rs1003219793 CA387442411	464	N>Y		No	ClinGen TOPMed gnomAD
rs532851739 CA6901682	466	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749905392 CA6901681	466	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6901683 rs779826863	467	K>E		No	ClinGen ExAC gnomAD
CA6901684 rs749003341	468	R>T		No	ClinGen ExAC gnomAD
CA387442585 rs1270161032	471	I>T		No	ClinGen gnomAD
CA246396756 rs546918293	472	P>A		No	ClinGen Ensembl
rs1487546219 CA387442632	473	L>R		No	ClinGen gnomAD
rs779353316 CA6901686	474	D>N		No	ClinGen ExAC TOPMed gnomAD
rs779353316 CA387442641	474	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA246396759 rs958994285	476	K>E		No	ClinGen TOPMed
rs748473391 CA6901687	477	T>I		No	ClinGen ExAC gnomAD
CA246396767 rs200043793	478	I>T		No	ClinGen 1000Genomes
CA246396763 rs973042448	478	I>V		No	ClinGen TOPMed
rs772580100 CA6901688	479	D>E		No	ClinGen ExAC TOPMed gnomAD
rs760788220 CA6901690	480	D>N		No	ClinGen ExAC TOPMed gnomAD
CA387442774 rs1406556911	481	H>P		No	ClinGen Ensembl
CA6901691 rs201719876	482	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs911691980 CA246396780	483	T>S		No	ClinGen TOPMed gnomAD
rs142493332 CA6901693	484	K>E		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1456976671 CA387442825	484	K>T		No	ClinGen gnomAD
rs765462844 CA6901695	488	Q>H		No	ClinGen ExAC gnomAD
rs1389288276 CA387442906	488	Q>R		No	ClinGen gnomAD
CA246396822 rs1039102922	489	S>*		No	ClinGen TOPMed
CA387442914 rs1233482528	489	S>T		No	ClinGen gnomAD
CA246396841 rs921930666	492	E>G		No	ClinGen TOPMed gnomAD
rs761547924 CA6901697	492	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	495	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767454849 CA6901699	496	T>P		No	ClinGen ExAC gnomAD
CA6901701 rs147594834	499	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	499	E>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746077842 CA6901702	500	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1417643653 CA387443096	501	D>G		No	ClinGen TOPMed
rs201074245 CA246396868	501	D>Y		No	ClinGen 1000Genomes
CA6901704 rs754618545	502	T>A		No	ClinGen ExAC gnomAD
rs776381701 CA246396879	502	T>I		No	ClinGen Ensembl
rs778729583 CA6901705	504	A>T		No	ClinGen ExAC TOPMed gnomAD
CA387443115 rs1593476007	504	A>V		No	ClinGen Ensembl
CA387443130 rs1412293129	506	I>T		No	ClinGen gnomAD
CA387443133 rs1423701145	507	A>T		No	ClinGen gnomAD
rs748515492 CA6901706	509	E>D		No	ClinGen ExAC gnomAD
rs1366916552 CA387443176	512	Q>P		No	ClinGen TOPMed
CA387443218 rs1593476037	514	V>G		No	ClinGen Ensembl
CA387443240 rs1593476054	516	D>N		No	ClinGen Ensembl
rs1036884651 CA246396895	517	S>G		No	ClinGen gnomAD
rs1167567682 CA387443271	517	S>N		No	ClinGen TOPMed gnomAD
CA6901708 rs778330655	518	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs374639933 CA6901709	521	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA387443336 rs1291123958	521	A>V		No	ClinGen TOPMed
CA6901713 rs147834818	523	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs745974518 CA6901712	523	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs140273915 CA6901736	526	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	527	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145797698 CA6901737	528	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387445363 rs145797698	528	R>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1386398253 CA387445380	529	Q>R		No	ClinGen gnomAD
CA387445424 rs1320029695	531	I>M		No	ClinGen gnomAD
CA387445427 rs1389451700	532	L>V		No	ClinGen gnomAD
rs776759760 CA6901738	533	S>N		No	ClinGen ExAC gnomAD
CA387445465 rs1273304884	534	L>W		No	ClinGen gnomAD
CA6901740 rs199522565	537	D>G		No	ClinGen ExAC TOPMed gnomAD
rs762459334 CA6901742	539	Q>P		No	ClinGen ExAC gnomAD
CA6901744 CA387445636 rs751885140	543	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1270894068 CA387445633	543	M>R		No	ClinGen TOPMed
CA6901743 rs145056039	543	M>V		No	ClinGen ESP ExAC gnomAD
CA6901745 rs774528734	544	K>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	548	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756212096 CA387445786	550	K>N		No	ClinGen ExAC gnomAD
rs779928235 CA6901750	551	H>L		No	ClinGen ExAC gnomAD
rs1216203779 CA387445819	552	L>F		No	ClinGen TOPMed gnomAD
CA387445830 COSM397464 rs149143823	553	D>H	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA6901752 rs149143823	553	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1355785933 CA387445941	558	N>T		No	ClinGen TOPMed
rs1326344568 CA387445983	560	A>V		No	ClinGen TOPMed
rs1021251644 CA246403810	562	T>A		No	ClinGen TOPMed
CA387446009 rs1395654954	563	D>N		No	ClinGen TOPMed
CA387446015 rs1402540885	563	D>V		No	ClinGen gnomAD
rs746769123 CA6901755	564	A>G		No	ClinGen ExAC gnomAD
CA387446034 rs746769123	564	A>V		No	ClinGen ExAC gnomAD
CA387446045 rs1485407458	565	I>T		No	ClinGen gnomAD
CA6901756 rs375121374	565	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA387446067 rs1305395603	566	P>R		No	ClinGen gnomAD
rs776704913 CA6901757	566	P>S		No	ClinGen ExAC TOPMed gnomAD
rs780631679 CA6901772	569	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1308969732 CA387446209	569	V>L		No	ClinGen TOPMed gnomAD
rs1408737900 CA387446223	570	L>V		No	ClinGen TOPMed
CA387446269 rs1446430799	571	R>S		No	ClinGen gnomAD
rs148589549 CA6901773	572	D>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1375472189 CA387446281	572	D>Y		No	ClinGen TOPMed
CA246403887 rs867502499	573	A>D		No	ClinGen gnomAD
CA387446314 rs867502499	573	A>G		No	ClinGen gnomAD
CA6901774 rs755125073	574	V>M		No	ClinGen ExAC TOPMed gnomAD
CA387446437 rs1565940865	578	D>E		No	ClinGen Ensembl
rs528149101 CA246403888	579	Y>*		No	ClinGen 1000Genomes
CA387446468 rs1358375721	580	I>V		No	ClinGen TOPMed
CA6901775 rs779265302	581	T>A		No	ClinGen ExAC gnomAD
rs143212176 CA6901776	581	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA387446495 rs1205648446	582	V>I		No	ClinGen TOPMed gnomAD
rs1593484307 CA387446611	587	N>K		No	ClinGen Ensembl
CA387446619 rs1276477273	588	S>P		No	ClinGen gnomAD
rs772430497 CA6901777	590	E>A		No	ClinGen ExAC gnomAD
CA246403897 rs200413985	591	E>D		No	ClinGen 1000Genomes gnomAD
rs781078224 CA6901778	591	E>K		No	ClinGen ExAC gnomAD
TCGA novel	593	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs984243785 CA246403902	594	L>R		No	ClinGen TOPMed
CA6901779 rs745683026	595	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1475593414 CA387446785	596	Q>R		No	ClinGen TOPMed
rs1169039865 CA387446796	597	E>D		No	ClinGen gnomAD
CA246404895 rs751108425	598	D>G		No	ClinGen Ensembl
rs374453532 CA246404896	600	S>N		No	ClinGen ESP TOPMed
CA387448103 rs1347155474	605	V>M		No	ClinGen gnomAD
rs765869872 CA6901826	606	M>L		No	ClinGen ExAC gnomAD
rs764393170 CA6901830	609	A>G		No	ClinGen ExAC gnomAD
CA6901829 rs376824629	609	A>T		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA246404906 rs868088498	610	A>T		No	ClinGen TOPMed gnomAD
CA6901833 rs201521390	611	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs367691892 CA6901834	612	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA387448373 rs1473185738	615	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA387448433 rs1366184589	617	L>P		No	ClinGen gnomAD
rs1457152115 CA387448438	618	R>*		No	ClinGen TOPMed gnomAD
rs1457152115 CA387448437	618	R>G		No	ClinGen TOPMed gnomAD
CA6901836 rs778850982	618	R>Q		No	ClinGen ExAC gnomAD
rs771618695 CA6901838	619	L>F		No	ClinGen ExAC gnomAD
CA387448487 rs1393043453	620	L>H		No	ClinGen gnomAD
CA387448479 rs1351075641	620	L>V		No	ClinGen gnomAD
CA387448586 rs1425274898	625	A>T		No	ClinGen TOPMed
CA6901841 rs770503364	625	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760012733 CA6901843	627	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776191160 CA6901845	629	G>S		No	ClinGen ExAC TOPMed gnomAD
rs764340085 CA6901847 COSM1677504	630	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs202022149 CA6901846	630	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1254607012 CA387448729	632	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA387448724 rs1285245588	632	K>R		No	ClinGen TOPMed
rs751591575 CA6901848	633	N>K		No	ClinGen ExAC TOPMed gnomAD
rs376405101 COSM3399266 CA6901849	634	G>R	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA387448774 rs1386739512	635	T>S		No	ClinGen gnomAD
CA387448787 rs1167784053	636	T>A		No	ClinGen gnomAD
CA6901852 rs754805793	637	A>T		No	ClinGen ExAC TOPMed gnomAD
CA246404948 rs920844263	640	H>R		No	ClinGen TOPMed
CA6901855 rs758336509	644	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1318626277 CA387449012	645	N>D		No	ClinGen TOPMed
rs775227679 CA6901890	649	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1239145711 CA387449074	650	V>A		No	ClinGen TOPMed
CA387449096 rs1433129295	652	I>T		No	ClinGen TOPMed gnomAD
CA6901891 rs762698271	652	I>V		No	ClinGen ExAC TOPMed gnomAD
CA246405510 rs74926233	654	L>F		No	ClinGen ExAC gnomAD
rs1367343990 CA387449116	654	L>S		No	ClinGen gnomAD
rs756791347 CA6901894	655	E>K		No	ClinGen ExAC gnomAD
rs766874821 CA6901895	656	A>G		No	ClinGen ExAC gnomAD
CA387449152 rs1227282883	657	G>R		No	ClinGen gnomAD
CA246405526 rs930509907	658	A>D		No	ClinGen TOPMed
CA387449164 rs1420173845	658	A>P		No	ClinGen Ensembl
CA387449257 rs1318410942	665	S>T		No	ClinGen gnomAD
rs749962240 CA6901896	666	N>S		No	ClinGen ExAC gnomAD
rs1245699109 CA387449348	670	A>V		No	ClinGen gnomAD
CA387449364 rs1378461816	672	M>V		No	ClinGen TOPMed
rs1295215286 CA387449644	678	G>E		No	ClinGen gnomAD
TCGA novel	678	G>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1247699432 CA387449642	678	G>R		No	ClinGen gnomAD
CA387449704 rs1440590524	683	V>I		No	ClinGen TOPMed gnomAD
CA387449717 rs1208163796	684	R>*		No	ClinGen gnomAD
CA6901928 rs773972916	684	R>Q		No	ClinGen ExAC gnomAD
CA387449755 rs1185655055	686	V>I		No	ClinGen gnomAD
CA387449758 rs1185655055	686	V>L		No	ClinGen gnomAD
rs761702859 CA6901930	687	I>M		No	ClinGen ExAC gnomAD
CA246407384 rs1019914790	688	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs760250154 CA6901933	692	D>E		No	ClinGen ExAC gnomAD
rs773334606 CA6901932	692	D>N		No	ClinGen ExAC TOPMed gnomAD
CA246407401 rs925339175	699	H>N		No	ClinGen TOPMed
CA6901934 rs766055065	700	Q>E		No	ClinGen ExAC gnomAD
rs375707927 CA246407404	700	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs764972403 CA6901938	702	S>T		No	ClinGen ExAC
rs1222814472 CA387450136	705	H>Y		No	ClinGen TOPMed gnomAD
CA387450168 rs1473274275	706	F>S		No	ClinGen gnomAD
rs778576435 CA387450187	707	A>G		No	ClinGen TOPMed gnomAD
CA387450177 rs1182505581	707	A>T		No	ClinGen TOPMed gnomAD
CA246407436 rs778576435	707	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1474138267 CA387450211	709	Q>K		No	ClinGen gnomAD
rs921856841 CA246407441	711	N>D		No	ClinGen gnomAD
rs921856841 CA387450238	711	N>H		No	ClinGen gnomAD
rs769870702 CA246407448	712	N>D		No	ClinGen ExAC gnomAD
rs769870702 CA6901946	712	N>H		No	ClinGen ExAC gnomAD
CA6901947 rs780367926	712	N>S		No	ClinGen ExAC gnomAD
rs1477364724 CA387450288	713	V>M		No	ClinGen TOPMed gnomAD
rs771597562 CA6901948 COSM550731	714	L>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	714	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387450325 rs1430538419	715	V>M		No	ClinGen gnomAD
rs1383841648 CA387450401	717	D>E		No	ClinGen gnomAD
rs1340344186 CA387450376 COSM945772	717	D>N	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA387450393 rs1253348012	717	D>V		No	ClinGen TOPMed
rs1565943744 CA387450498	721	N>S		No	ClinGen Ensembl
CA387450516 rs1329135500	722	H>D		No	ClinGen gnomAD
CA387450513 rs1329135500	722	H>N		No	ClinGen gnomAD
rs1404040856 CA387450523	722	H>R		No	ClinGen gnomAD
rs1225470965 CA387450586	724	E>G		No	ClinGen gnomAD
rs77814222 CA6901953	725	T>I		No	ClinGen 1000Genomes TOPMed gnomAD
CA6901984 rs762209749	727	S>*		No	ClinGen ExAC TOPMed gnomAD
CA387451210 rs1593492450	729	V>A		No	ClinGen Ensembl
rs767892846 CA6901985	730	A>G		No	ClinGen ExAC gnomAD
rs756146982 CA6901987	733	T>S		No	ClinGen ExAC gnomAD
rs1245350672 CA387451260	736	D>E		No	ClinGen gnomAD
CA387451255 rs1309202687	736	D>N		No	ClinGen TOPMed gnomAD
rs1380921558 CA387451258	736	D>V		No	ClinGen gnomAD
rs1254109002 CA387451265	737	Y>C		No	ClinGen TOPMed
rs766418052 CA6901988	738	F>S		No	ClinGen ExAC TOPMed gnomAD
CA246408412 rs369237165	740	A>D		No	ClinGen Ensembl
CA6901989 rs753982361 COSM945774	741	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA387451290 rs753982361	741	R>G		No	ClinGen ExAC gnomAD
CA246408418 rs1035355252	741	R>H		No	ClinGen TOPMed gnomAD
rs755202602 CA6901991	743	A>V		No	ClinGen ExAC gnomAD
CA387451314 rs1197132792	746	E>K		No	ClinGen TOPMed gnomAD
rs1202702763 CA387451327	747	P>L		No	ClinGen TOPMed
rs1593492517 CA387451322	747	P>S		No	ClinGen Ensembl
CA6901993 rs746777701	749	F>S		No	ClinGen ExAC gnomAD
TCGA novel	750	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1343386318 CA387451348	751	I>V		No	ClinGen TOPMed
rs145688067 CA6901995	752	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA387451370 rs1426639984	754	H>R		No	ClinGen gnomAD
CA387451388 rs1169703820	757	C>G		No	ClinGen gnomAD
rs745749667 CA6901996	757	C>W		No	ClinGen ExAC TOPMed gnomAD
rs769628961 CA6901997	759	G>D		No	ClinGen ExAC gnomAD
rs1334653458 CA387451454	766	F>L		No	ClinGen TOPMed
rs1404186016 CA387451459	767	N>S		No	ClinGen TOPMed gnomAD
rs768269869 CA6902000	768	Y>C		No	ClinGen ExAC gnomAD
rs748822688 CA6901999	768	Y>H		No	ClinGen ExAC
CA387451476 rs1385139010	769	K>N		No	ClinGen TOPMed gnomAD
CA6902001 rs773165222	770	P>H		No	ClinGen ExAC TOPMed gnomAD
CA6902002 rs773165222	770	P>L		No	ClinGen ExAC TOPMed gnomAD
CA387451479 rs1593492598	770	P>S		No	ClinGen Ensembl
rs767994690 CA6902003	771	P>R		No	ClinGen ExAC gnomAD
CA387451487 rs916451083	772	Q>E		No	ClinGen TOPMed
CA246408444 rs916451083	772	Q>K		No	ClinGen TOPMed
TCGA novel	773	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1168286008 CA387451507	774	I>M		No	ClinGen gnomAD
CA6902004 rs200679525	774	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs369382546 CA246408459	775	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs369382546 CA6902005	775	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs369382546 CA387451508	775	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA387451542 rs1422027710	778	S>F		No	ClinGen gnomAD
rs577259168 CA6902031	779	G>S		No	ClinGen 1000Genomes ExAC
rs1301871728 CA387451549	780	I>V		No	ClinGen gnomAD
rs1005752814 CA246409578	783	F>L		No	ClinGen TOPMed
CA387451578 rs1370715115	784	I>M		No	ClinGen gnomAD
CA387451595 rs1307053608	787	A>T		No	ClinGen gnomAD
CA387451627 rs1337658727	791	G>A		No	ClinGen TOPMed
rs1220101375 CA387451624	791	G>S		No	ClinGen gnomAD
CA6902033 rs138439899	792	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs750197758 CA387451646	794	V>F		No	ClinGen ExAC TOPMed gnomAD
CA6902034 rs750197758	794	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6902035 rs141938638	795	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs556890711 CA246409584	796	A>D		No	ClinGen ExAC gnomAD
CA6902036 rs556890711	796	A>G		No	ClinGen ExAC gnomAD
rs753841771 COSM3772782 CA6902037	797	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA246409585 rs887013916	797	R>W		No	ClinGen Ensembl
rs754918141 CA6902038	799	C>R		No	ClinGen ExAC gnomAD
rs1441648409 CA387451671	799	C>Y		No	ClinGen gnomAD
TCGA novel	800	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6902040 COSM945776 rs747635612	801	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6902041 rs747635612	801	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	803	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440982457 CA387451712	805	Q>R		No	ClinGen gnomAD
rs1243148376 CA387451727	807	V>A		No	ClinGen gnomAD
rs1378406598 CA387451723	807	V>I		No	ClinGen gnomAD
CA387451728 rs1439473899	808	V>I		No	ClinGen TOPMed
rs1183846277 CA387451743	810	N>S		No	ClinGen TOPMed
CA387451758 rs771489372	812	K>I		No	ClinGen ExAC TOPMed gnomAD
CA246409642 rs771489372	812	K>R		No	ClinGen ExAC TOPMed gnomAD
CA6902045 rs771489372	812	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1237663440 CA387451779	815	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6902046 rs777138474	815	L>R		No	ClinGen ExAC
rs370429792 CA6902089	826	S>P		No	ClinGen ESP ExAC gnomAD
rs1314091027 CA387452066	830	V>A		No	ClinGen TOPMed gnomAD
CA387452068 rs1314091027	830	V>G		No	ClinGen TOPMed gnomAD
rs1323817768 CA387452119	834	N>S		No	ClinGen gnomAD
CA6902092 rs758360328	835	K>E		No	ClinGen ExAC gnomAD
CA6902093 rs763452058	836	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1328745288 CA387452151	838	I>L		No	ClinGen TOPMed gnomAD
rs928465585 CA246410201	843	A>V		No	ClinGen Ensembl
CA387452193 rs1346499085	844	P>S		No	ClinGen TOPMed
TCGA novel	845	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	845	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780611127 CA6902099	847	K>M		No	ClinGen ExAC gnomAD
CA6902117 rs755837789	848	V>A		No	ClinGen ExAC gnomAD
CA387452260 rs1344460167	853	G>S		No	ClinGen gnomAD
rs1219493966 CA387452265	853	G>V		No	ClinGen gnomAD
rs779516247 CA6902121	854	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1214921631 CA387452272	855	Y>H		No	ClinGen TOPMed gnomAD
rs748205099 CA6902122	856	R>G		No	ClinGen ExAC gnomAD
CA6902124 rs541458851	857	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387452286 rs541458851	857	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1441298359 CA387452296	858	Q>H		No	ClinGen TOPMed

No associated diseases with Q99549

6 regional properties for Q99549

Type	Name	Position	InterPro Accession
domain	Chromo/chromo shadow domain	58 - 111	IPR000953
repeat	Ankyrin repeat	572 - 665	IPR002110-1
repeat	Ankyrin repeat	666 - 698	IPR002110-2
repeat	Ankyrin repeat	699 - 728	IPR002110-3
conserved_site	Chromo domain, conserved site	76 - 96	IPR023779
domain	Chromo domain	59 - 109	IPR023780

Functions

		Description
EC Number
Subcellular Localization	Nucleus Chromosome	Detected on heterochromatin (PubMed:20871592, PubMed:26022416) Dissociates from chromatin during interphase and early mitosis (PubMed:23416073) Detected on nucleosomes (PubMed:20871592)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
heterochromatin	A compact and highly condensed form of chromatin that is refractory to transcription.
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.
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.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 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.
methylated histone binding	Binding to a histone in which a residue has been modified by methylation.

5 GO annotations of biological process

Name	Definition
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of gene expression, epigenetic	An epigenetic process that silences gene expression at specific genomic regions through chromatin remodelling either by modifying higher order chromatin fiber structure, nucleosomal histones, or the DNA.
negative regulation of single stranded viral RNA replication via double stranded DNA intermediate	Any process that stops, prevents, or reduces the frequency, rate or extent of single stranded viral RNA replication via double stranded DNA intermediate.
positive regulation of DNA methylation-dependent heterochromatin assembly	Any process that increases the rate, frequency, or extent of DNA methylation-dependent heterochromatin formation.
regulation of DNA methylation	Any process that modulates the frequency, rate or extent of the covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine.

21 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q04861	NFKB1	Nuclear factor NF-kappa-B p105 subunit	Gallus gallus (Chicken)	SS
P98150	NFKB2	Nuclear factor NF-kappa-B p100 subunit	Gallus gallus (Chicken)	SS
Q94527	Rel	Nuclear factor NF-kappa-B p110 subunit	Drosophila melanogaster (Fruit fly)	EV
P19838	NFKB1	Nuclear factor NF-kappa-B p105 subunit	Homo sapiens (Human)	SS
Q00653	NFKB2	Nuclear factor NF-kappa-B p100 subunit	Homo sapiens (Human)	SS
Q8N9B4	ANKRD42	Ankyrin repeat domain-containing protein 42	Homo sapiens (Human)	PR
Q6ZVZ8	ASB18	Ankyrin repeat and SOCS box protein 18	Homo sapiens (Human)	PR
P83916	CBX1	Chromobox protein homolog 1	Homo sapiens (Human)	PR
Q9Y232	CDYL	Chromodomain Y-like protein	Homo sapiens (Human)	PR
Q8N8U2	CDYL2	Chromodomain Y-like protein 2	Homo sapiens (Human)	PR
Q9CZK6	Anks3	Ankyrin repeat and SAM domain-containing protein 3	Mus musculus (Mouse)	PR
P25799	Nfkb1	Nuclear factor NF-kappa-B p105 subunit [Cleaved into: Nuclear factor NF-kappa-B p50 subunit]	Mus musculus (Mouse)	EV
Q8VHA6	Asb18	Ankyrin repeat and SOCS box protein 18	Mus musculus (Mouse)	PR
Q9WTK5	Nfkb2	Nuclear factor NF-kappa-B p100 subunit [Cleaved into: Nuclear factor NF-kappa-B p52 subunit]	Mus musculus (Mouse)	EV
Q9WTK2	Cdyl	Chromodomain Y-like protein	Mus musculus (Mouse)	PR
P83917	Cbx1	Chromobox protein homolog 1	Mus musculus (Mouse)	PR
Q9D5D8	Cdyl2	Chromodomain Y-like protein 2	Mus musculus (Mouse)	PR
Q6AYK9	Cdyl	Chromodomain Y-like protein	Rattus norvegicus (Rat)	PR
Q9TZM3	lrk-1	Leucine-rich repeat serine/threonine-protein kinase 1	Caenorhabditis elegans	SS
O22265	CAO	Signal recognition particle 43 kDa protein, chloroplastic	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SZI3	NPR2	Regulatory protein NPR2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MEQVAEGARV	TAVPVSAADS	TEELAEVEEG	VGVVGEDNDA	AARGAEAFGD	SEEDGEDVFE
70	80	90	100	110	120
VEKILDMKTE	GGKVLYKVRW	KGYTSDDDTW	EPEIHLEDCK	EVLLEFRKKI	AENKAKAVRK
130	140	150	160	170	180
DIQRLSLNND	IFEANSDSDQ	QSETKEDTSP	KKKKKKLRQR	EEKSPDDLKK	KKAKAGKLKD
190	200	210	220	230	240
KSKPDLESSL	ESLVFDLRTK	KRISEAKEEL	KESKKPKKDE	VKETKELKKV	KKGEIRDLKT
250	260	270	280	290	300
KTREDPKENR	KTKKEKFVES	QVESESSVLN	DSPFPEDDSE	GLHSDSREEK	QNTKSARERA
310	320	330	340	350	360
GQDMGLEHGF	EKPLDSAMSA	EEDTDVRGRR	KKKTPRKAED	TRENRKLENK	NAFLEKKTVP
370	380	390	400	410	420
KKQRNQDRSK	SAAELEKLMP	VSAQTPKGRR	LSGEERGLWS	TDSAEEDKET	KRNESKEKYQ
430	440	450	460	470	480
KRHDSDKEEK	GRKEPKGLKT	LKEIRNAFDL	FKLTPEEKND	VSENNRKREE	IPLDFKTIDD
490	500	510	520	530	540
HKTKENKQSL	KERRNTRDET	DTWAYIAAEG	DQEVLDSVCQ	ADENSDGRQQ	ILSLGMDLQL
550	560	570	580	590	600
EWMKLEDFQK	HLDGKDENFA	ATDAIPSNVL	RDAVKNGDYI	TVKVALNSNE	EYNLDQEDSS
610	620	630	640	650	660
GMTLVMLAAA	GGQDDLLRLL	ITKGAKVNGR	QKNGTTALIH	AAEKNFLTTV	AILLEAGAFV
670	680	690	700	710	720
NVQQSNGETA	LMKACKRGNS	DIVRLVIECG	ADCNILSKHQ	NSALHFAKQS	NNVLVYDLLK
730	740	750	760	770	780
NHLETLSRVA	EETIKDYFEA	RLALLEPVFP	IACHRLCEGP	DFSTDFNYKP	PQNIPEGSGI
790	800	810	820	830	840
LLFIFHANFL	GKEVIARLCG	PCSVQAVVLN	DKFQLPVFLD	SHFVYSFSPV	AGPNKLFIRL
850
TEAPSAKVKL	LIGAYRVQLQ