AiPD: Autoinhibited Protein Database

Q29RF7

Gene name	PDS5A
Protein name	Sister chromatid cohesion protein PDS5 homolog A
Names	Cell proliferation-inducing gene 54 protein, Sister chromatid cohesion protein 112, SCC-112
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23244
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1140-1239 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1140-1239 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q29RF7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q29RF7-F1	Predicted				AlphaFoldDB

605 variants for Q29RF7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000680248 rs1560445171 CA356696763	759	E>*	PDS5A-related disorder [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA2896391 rs753639268	3	F>L		No	ClinGen ExAC gnomAD
CA2896392 rs759562518	3	F>L		No	ClinGen ExAC gnomAD
rs760434405 CA2896389	4	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1481784098 CA356781612	4	T>I		No	ClinGen gnomAD
CA2896390 rs760434405	4	T>P		No	ClinGen ExAC TOPMed gnomAD
CA2896388 rs774619278	5	A>V		No	ClinGen ExAC gnomAD
rs1362296299 CA356781595	7	P>H		No	ClinGen gnomAD
rs763019166 CA2896386	11	T>I		No	ClinGen ExAC TOPMed gnomAD
rs775555695 CA356781560 COSM246519	13	L>F	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs775555695 CA2896384	13	L>V		No	ClinGen ExAC gnomAD
rs1308655774 CA356781542	16	V>I		No	ClinGen gnomAD
CA96137198 rs1052145224	17	V>A		No	ClinGen TOPMed
rs747394399 CA2896380	17	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2896379 rs747394399	17	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2896378 rs777481365	19	A>V		No	ClinGen ExAC gnomAD
CA2896376 rs752196772	20	D>H		No	ClinGen ExAC gnomAD
CA356781512 COSM1194408 COSM1194407 rs1176786048	21	G>R	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA96137197 rs921820995	23	I>T		No	ClinGen Ensembl
CA356781492 rs1471371584	24	A>P		No	ClinGen gnomAD
CA2896374 rs754573929	25	Y>C		No	ClinGen ExAC gnomAD
CA356781472 rs1420372778	27	P>S		No	ClinGen gnomAD
rs766284530 CA2896372	28	G>R		No	ClinGen ExAC gnomAD
rs200892073 TCGA novel CA2896370	29	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA2896371 rs760513243	29	V>I		No	ClinGen ExAC gnomAD
rs764315855 CA2896369	30	K>I		No	ClinGen ExAC TOPMed gnomAD
rs763182551 CA356781446 CA2896368	31	E>D		No	ClinGen ExAC gnomAD
rs775504519 CA2896367	32	I>V		No	ClinGen ExAC gnomAD
CA356781427 rs1446646348	34	D>E		No	ClinGen TOPMed
rs1338827137 CA356781419	35	K>N		No	ClinGen gnomAD
TCGA novel	38	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA96137196 rs764060989	38	T>K		No	ClinGen gnomAD
CA356781400 rs764060989	38	T>M		No	ClinGen gnomAD
CA356781390 rs1402837895	40	E>K		No	ClinGen gnomAD
rs925069340 CA96137195	41	M>I		No	ClinGen Ensembl
CA356781367 rs1298309018	43	K>E		No	ClinGen TOPMed
rs1455469766 CA356781364	43	K>R		No	ClinGen gnomAD
CA356781359 rs759664267	44	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2896365 rs759664267	44	R>S		No	ClinGen ExAC TOPMed gnomAD
CA2896342 rs776581676	47	M>T		No	ClinGen ExAC gnomAD
CA356726058 rs1328959525	48	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2896341 rs766851812	51	T>I		No	ClinGen ExAC TOPMed gnomAD
rs766851812 CA95741358	51	T>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	51	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2896339 rs773588952	54	D>N		No	ClinGen ExAC gnomAD
CA356725931 rs1306715040	56	D>N		No	ClinGen gnomAD
CA356725840 rs1429607906	61	D>N		No	ClinGen gnomAD
rs1341069845 CA356725818	62	E>A		No	ClinGen TOPMed
rs772536251 CA2896338	67	L>F		No	ClinGen ExAC gnomAD
rs774141673 CA2896336	72	H>D		No	ClinGen ExAC gnomAD
rs779449059 CA2896333	76	E>Q		No	ClinGen ExAC gnomAD
rs1249789969 CA356725505	81	N>S		No	ClinGen gnomAD
TCGA novel	81	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756035873 CA2896332	83	N>S		No	ClinGen ExAC TOPMed gnomAD
CA356725403 rs1216059018	87	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs201833974 CA95741315	87	R>S		No	ClinGen 1000Genomes
CA95741311 rs924283758	89	L>F		No	ClinGen Ensembl
CA356725332 rs1297203676	92	C>S		No	ClinGen gnomAD
CA356725243 rs1381356216	97	I>T		No	ClinGen gnomAD
CA356725251 rs1222215129	97	I>V		No	ClinGen TOPMed
CA2896328 rs751426662	98	F>L		No	ClinGen ExAC gnomAD
CA95741294 rs372683118	108	T>S		No	ClinGen ESP TOPMed
rs369934532 CA2896325	109	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766402931 CA2896324	110	H>R		No	ClinGen ExAC TOPMed gnomAD
CA2896323 rs760851205	112	K>Q		No	ClinGen ExAC gnomAD
CA356724871 rs1578758298	115	D>Y		No	ClinGen Ensembl
rs1419078128 CA356724812	118	L>F		No	ClinGen TOPMed
TCGA novel	119	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356724755 rs1578758273	123	Q>K		No	ClinGen Ensembl
rs1578758249 CA356724709	126	G>C		No	ClinGen Ensembl
CA356724705 rs1578758242	126	G>V		No	ClinGen Ensembl
CA356724647 rs1164037515	130	T>K		No	ClinGen TOPMed
rs1578758187 CA356724595	133	P>Q		No	ClinGen Ensembl
CA356724598 rs1578758208	133	P>T		No	ClinGen Ensembl
CA356724588 rs1578758171	134	Q>K		No	ClinGen Ensembl
CA356724540 rs1302498769	136	N>S		No	ClinGen TOPMed
CA356724526 rs1462525484	137	R>I		No	ClinGen gnomAD
CA356724528 rs1462525484	137	R>K		No	ClinGen gnomAD
CA356724509 rs1578758139	138	Y>*		No	ClinGen Ensembl
CA356724451 rs1265811911	143	E>K		No	ClinGen gnomAD
CA356724280 rs1435807520	146	A>S		No	ClinGen gnomAD
rs1366342368 CA356724214	150	S>P		No	ClinGen gnomAD
CA2896285 rs763422612	162	E>D		No	ClinGen ExAC gnomAD
CA2896284 rs774995760	166	Q>H		No	ClinGen ExAC gnomAD
rs769560322 CA2896283	169	R>G		No	ClinGen ExAC gnomAD
rs1578755864 CA356723777	169	R>K		No	ClinGen Ensembl
TCGA novel	172	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356723696 rs1354950325	173	S>T		No	ClinGen TOPMed
rs776136040 CA2896281	175	I>V		No	ClinGen ExAC gnomAD
CA2896244 rs77620225	176	N>K		No	ClinGen ExAC
rs773122888 CA2896243	177	N>S		No	ClinGen ExAC gnomAD
CA95738785 rs1004098918	180	N>H		No	ClinGen TOPMed
CA356721674 rs1259884744	181	K>R		No	ClinGen Ensembl
rs1240184119 CA356721626	184	Q>E		No	ClinGen TOPMed
TCGA novel	184	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1263060219 CA356721550	187	M>I		No	ClinGen TOPMed
CA2896242 rs772049125 COSM1485954 COSM447843	187	M>V	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs747839173 CA356721543	188	L>V		No	ClinGen ExAC gnomAD
TCGA novel	191	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs367619204 CA2896238	194	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1019324285 CA95738766	196	M>T		No	ClinGen Ensembl
CA356721435 rs1362769460	196	M>V		No	ClinGen gnomAD
CA356721401 rs1560486412	198	G>D		No	ClinGen Ensembl
rs757396214 CA2896236	201	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA356721329 rs1486656012	204	E>Q		No	ClinGen TOPMed
rs1384311282 CA356721234	211	I>L		No	ClinGen gnomAD
rs748658381 CA2896213	220	L>V		No	ClinGen ExAC TOPMed gnomAD
CA356720640 rs1383386802	221	N>D		No	ClinGen gnomAD
CA356720618 rs1313323731	222	K>R		No	ClinGen TOPMed
CA2896212 rs370920956	223	Q>E		No	ClinGen ESP ExAC gnomAD
rs1303067889 CA356720606	223	Q>P		No	ClinGen TOPMed gnomAD
rs755785192 CA2896208	238	T>A		No	ClinGen ExAC gnomAD
rs1431497855 CA356720404	239	I>T		No	ClinGen gnomAD
rs1195682087 CA356720410	239	I>V		No	ClinGen TOPMed gnomAD
rs1183001002 CA356720400	240	E>K		No	ClinGen TOPMed
rs1223322361 CA356720382	241	A>E		No	ClinGen gnomAD
CA2896205 rs761274224	243	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2896204 rs751498545	244	A>T		No	ClinGen ExAC gnomAD
CA356718628 rs1346919020	247	F>I		No	ClinGen gnomAD
TCGA novel	247	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1278279674 CA356718578	248	N>S		No	ClinGen gnomAD
CA356718421 rs1212549487	254	G>R		No	ClinGen TOPMed
CA95736400 rs945577274	261	L>F		No	ClinGen TOPMed
rs1485548261 CA356718216	262	S>T		No	ClinGen TOPMed
CA356718131 rs1578737554	265	V>I		No	ClinGen Ensembl
rs1378228833 CA356718046	267	D>Y		No	ClinGen TOPMed
CA2896180 rs751033270	270	Q>E		No	ClinGen ExAC gnomAD
CA356717921 rs1578737512	273	F>V		No	ClinGen Ensembl
rs372684647 CA2896179	275	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2896178 rs763007552	276	D>E		No	ClinGen ExAC gnomAD
CA2896177 rs752501257	277	P>S		No	ClinGen ExAC gnomAD
CA2896176 rs765094129	278	H>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	280	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3381017 CA95736374 COSM3381018 rs1027805524	283	V>I	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs772252871 CA2896173	284	M>V		No	ClinGen ExAC gnomAD
CA356717586 rs1325258513	286	Q>H		No	ClinGen gnomAD
rs1578737405 CA356717539	288	E>*		No	ClinGen Ensembl
rs1359371487 CA356715949	294	N>S		No	ClinGen gnomAD
CA2896154 rs746481370	298	E>D		No	ClinGen ExAC gnomAD
CA356715762 rs1360072840	302	V>A		No	ClinGen gnomAD
TCGA novel	304	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1347109389 CA356715727	304	R>Q		No	ClinGen gnomAD
rs754801238 CA2896149	307	A>V		No	ClinGen ExAC gnomAD
rs1364917209 CA356715673	308	K>E		No	ClinGen gnomAD
CA356715589 rs1198850812	311	G>A		No	ClinGen TOPMed
rs1198850812 CA356715590	311	G>D		No	ClinGen TOPMed
rs1263981344 CA356715580	312	S>A		No	ClinGen TOPMed
rs1478963053 CA356715537	313	K>R		No	ClinGen TOPMed
rs1416906212 CA356715497	315	S>C		No	ClinGen gnomAD
TCGA novel	322	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	325	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	325	W>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	336	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1205694761 CA356713635	336	H>R		No	ClinGen gnomAD
rs1251040968 CA356713640	336	H>Y		No	ClinGen gnomAD
CA95733537 rs267600150	338	P>S		No	ClinGen Ensembl
rs1392124335 CA356713567	345	K>R		No	ClinGen TOPMed
rs1427855523 CA356713517	352	M>V		No	ClinGen TOPMed
rs1168097222 CA356713499	354	H>Y		No	ClinGen gnomAD
rs1222948641 CA356713493	355	P>T		No	ClinGen gnomAD
TCGA novel	362	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356713437 rs1560475298	363	E>Q		No	ClinGen Ensembl
rs752735851 CA2896097	369	S>A		No	ClinGen ExAC gnomAD
TCGA novel	374	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	377	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765201673 CA2896096	378	H>R		No	ClinGen ExAC gnomAD
rs759712270 CA2896095	379	D>G		No	ClinGen ExAC gnomAD
TCGA novel	381	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356712370 rs1203445121	381	I>V		No	ClinGen gnomAD
CA356712357 rs1485607630	382	V>I		No	ClinGen gnomAD
CA356712278 rs1260073864	387	A>P		No	ClinGen gnomAD
rs1305259549 CA356712267	388	A>S		No	ClinGen TOPMed
CA2896094 rs754287271	391	D>N		No	ClinGen ExAC gnomAD
CA356712158 rs1355789732	393	A>V		No	ClinGen gnomAD
CA2896091 rs773729057	407	T>I		No	ClinGen ExAC gnomAD
CA356711844 rs1218215969	407	T>P		No	ClinGen TOPMed
CA356711842 rs1218215969	407	T>S		No	ClinGen TOPMed
TCGA novel	417	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2896079 rs752895096	419	M>T		No	ClinGen ExAC gnomAD
CA356710443 rs1295626308	420	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1401333357 CA356710354	422	L>M		No	ClinGen gnomAD
CA95730196 rs866545602	423	A>T		No	ClinGen Ensembl
CA2896078 rs779253517	433	G>V		No	ClinGen ExAC gnomAD
rs1393411090 CA356710034	435	A>S		No	ClinGen gnomAD
rs34748316 CA95730193	436	G>E		No	ClinGen Ensembl
rs538810136 CA95730187	437	K>N		No	ClinGen gnomAD
rs770983392 CA95730183	438	E>V		No	ClinGen Ensembl
rs1363407093 CA356709911	441	E>A		No	ClinGen TOPMed gnomAD
rs370580689 CA2896076	442	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1330544385	443	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1195903788 CA356709844	443	V>D		No	ClinGen gnomAD
CA356709832 rs1266672597	444	S>C		No	ClinGen gnomAD
TCGA novel	448	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	449	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs571612007 CA95730174	452	H>R		No	ClinGen gnomAD
CA356709573 rs1578707279	458	S>I		No	ClinGen Ensembl
rs1193886099 CA356709568	459	I>L		No	ClinGen gnomAD
TCGA novel	461	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867096891 CA95729072	465	V>L		No	ClinGen Ensembl
rs778939322 CA2896059	468	I>M		No	ClinGen ExAC TOPMed
CA2896060 rs746888611	468	I>V		No	ClinGen ExAC gnomAD
CA356708750 rs1459714847	469	F>L		No	ClinGen gnomAD
rs1261898949 CA356708675	471	Q>H		No	ClinGen gnomAD
rs1312528148 CA356708662	472	Y>C		No	ClinGen TOPMed
rs1312528148 CA356708658	472	Y>F		No	ClinGen TOPMed
CA356708597 rs1308981382	476	H>N		No	ClinGen TOPMed
rs1278333361 CA356708553	477	N>Y		No	ClinGen TOPMed gnomAD
CA356708449 rs1578703947	480	T>A		No	ClinGen Ensembl
CA356708314 rs1349842432	483	R>K		No	ClinGen TOPMed
CA356708043 rs1256398137	491	Y>H		No	ClinGen TOPMed
CA2896055 rs756307769	496	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1178424494 CA356707926	496	P>R		No	ClinGen TOPMed
CA2896054 rs373353572	499	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	502	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356707249 rs746727955	503	N>K		No	ClinGen ExAC TOPMed gnomAD
rs773083912 CA2896042 COSM1220108 COSM1220109	504	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs866195738 CA95727761	506	W>L		No	ClinGen Ensembl
CA2896040 rs749501914	513	R>Q		No	ClinGen ExAC gnomAD
CA356706906 rs1384214293	514	S>N		No	ClinGen gnomAD
CA2896037 rs745944442	516	V>A		No	ClinGen ExAC TOPMed gnomAD
CA356706835 rs1488874304	517	R>C		No	ClinGen gnomAD
rs781741452 CA2896036	517	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1359259560 CA356706798	518	E>K		No	ClinGen TOPMed gnomAD
CA356706795 rs1359259560	518	E>Q		No	ClinGen TOPMed gnomAD
CA2896033 rs764487607	524	K>R		No	ClinGen ExAC gnomAD
rs1269635104 CA356706505	526	P>R		No	ClinGen gnomAD
CA356706487 rs1400716172	527	T>S		No	ClinGen gnomAD
CA356705260 rs1330341293	528	S>L		No	ClinGen gnomAD
rs1404288617 CA356705179	531	N>K		No	ClinGen TOPMed
CA2896019 rs745893462	531	N>Y		No	ClinGen ExAC gnomAD
rs781452516 CA2896018	532	C>Y		No	ClinGen ExAC gnomAD
CA356705131 rs1469596752	533	S>F		No	ClinGen TOPMed
rs1332539479 CA356705111	534	A>V		No	ClinGen TOPMed
TCGA novel	536	F>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA95726702 rs914693644	538	K>R		No	ClinGen TOPMed gnomAD
CA2896015 rs778203529	540	M>L		No	ClinGen ExAC gnomAD
CA356704975 rs1479888355	542	I>V		No	ClinGen gnomAD
TCGA novel	545	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356704821 rs1328188226	545	N>T		No	ClinGen TOPMed
rs1224955974 CA356704793	546	L>*		No	ClinGen TOPMed
CA356704784 rs903325679	546	L>F		No	ClinGen TOPMed gnomAD
rs759798840 CA356704779	547	P>A		No	ClinGen ExAC TOPMed
CA2895997 rs759798840	547	P>S		No	ClinGen ExAC TOPMed
CA356704731 COSM1429647 COSM1429648 rs1308211352	550	G>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA95726547 rs1018506130	559	F>L		No	ClinGen TOPMed
rs1286759681 CA356704480	561	Q>R		No	ClinGen gnomAD
rs1042290385 CA95726545	564	G>S		No	ClinGen Ensembl
rs747126671 CA2895994	569	L>V		No	ClinGen ExAC gnomAD
CA2895993 rs185272845	570	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1394945709 CA356704252	570	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	572	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs193075238 CA2895992	580	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356704040 rs1159604515	580	T>S		No	ClinGen gnomAD
TCGA novel	581	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2895991 rs748466892	584	K>N		No	ClinGen ExAC TOPMed gnomAD
CA356703903 rs1184891435	590	V>A		No	ClinGen gnomAD
rs1258272651 CA356703908	590	V>L		No	ClinGen gnomAD
rs1465160961 CA356701171	593	I>V		No	ClinGen gnomAD
rs1424359052 CA356701150	594	A>S		No	ClinGen gnomAD
CA356701123 rs1471952321	595	R>Q		No	ClinGen TOPMed
CA2895970 rs774890672	595	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1199485716 CA356701087	597	L>V		No	ClinGen TOPMed
rs769001670 CA2895969	598	A>G		No	ClinGen ExAC gnomAD
CA356700865 rs1452034523	603	P>L		No	ClinGen gnomAD
CA356700842 rs1269002296	604	T>R		No	ClinGen gnomAD
TCGA novel	609	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	611	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868514856 CA95720931	616	E>*		No	ClinGen Ensembl
rs755741497 CA2895966	616	E>G		No	ClinGen ExAC gnomAD
rs1343468306 CA356700364	619	A>S		No	ClinGen TOPMed gnomAD
CA356700367 rs1343468306	619	A>T		No	ClinGen TOPMed gnomAD
rs1333252895 CA356700252	622	H>Y		No	ClinGen gnomAD
CA2895962 rs77600588	625	S>*		No	ClinGen ExAC gnomAD
rs1307555740 CA356700143	625	S>T		No	ClinGen gnomAD
rs200276683 CA2895961	626	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA2895960 rs758201681	627	A>S		No	ClinGen ExAC gnomAD
CA356699997 rs1468333772	628	I>M		No	ClinGen gnomAD
TCGA novel	628	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA95720855 rs1032384560	628	I>V		No	ClinGen TOPMed
TCGA novel	630	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2895945 rs756822578	633	K>R		No	ClinGen ExAC
TCGA novel	634	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1267088765 CA356699021	636	N>S		No	ClinGen TOPMed
CA2895943 rs777794887	638	S>L		No	ClinGen ExAC gnomAD
rs1156591089 CA356698965	640	E>V		No	ClinGen gnomAD
CA2895942 rs758433567	641	G>R		No	ClinGen ExAC gnomAD
TCGA novel	641	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356698941 rs1380526775	642	T>R		No	ClinGen gnomAD
CA95713718 rs1001185365	642	T>S		No	ClinGen TOPMed
rs1195511178 CA356698886	647	E>Q		No	ClinGen TOPMed
CA2895941 rs752500232	650	V>L		No	ClinGen ExAC gnomAD
CA2895939 rs754856223	651	S>G		No	ClinGen ExAC gnomAD
rs754856223 CA356698833	651	S>R		No	ClinGen ExAC gnomAD
CA95713696 rs1001581116	653	D>N		No	ClinGen Ensembl
rs867747281 CA95713695	657	R>C		No	ClinGen Ensembl
rs750600461 CA2895938	657	R>H		No	ClinGen ExAC TOPMed gnomAD
rs767727468 CA2895937	659	G>V		No	ClinGen ExAC gnomAD
CA2895916 rs781338901	673	S>A		No	ClinGen ExAC gnomAD
CA356698327 rs1242090512	673	S>L		No	ClinGen TOPMed
TCGA novel	675	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2895914 rs758587223	675	H>R		No	ClinGen ExAC TOPMed gnomAD
CA2895913 rs376486666	678	E>G		No	ClinGen ESP ExAC gnomAD
CA2895911 rs753139588	680	Y>H		No	ClinGen ExAC gnomAD
CA356698251 rs753139588	680	Y>N		No	ClinGen ExAC gnomAD
CA356698203 rs1578652769	683	L>F		No	ClinGen Ensembl
rs1241699542 CA356698134	689	M>V		No	ClinGen TOPMed
rs1462702157 CA356698089	691	D>E		No	ClinGen gnomAD
CA2895910 rs185644408	692	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA95712122 rs866713441	698	A>T		No	ClinGen Ensembl
CA95712118 rs909250421	699	I>F		No	ClinGen TOPMed gnomAD
CA356697984 rs909250421	699	I>L		No	ClinGen TOPMed gnomAD
CA95712116 rs984696360	703	R>S		No	ClinGen TOPMed
CA2895908 rs371617095	708	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs532570002 CA2895906	709	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs369492257 CA2895905	714	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1344492419 CA356697691	715	Q>H		No	ClinGen TOPMed
TCGA novel	715	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747764651 CA2895903	717	R>P		No	ClinGen ExAC gnomAD
rs1456616322 CA356697673	718	S>L		No	ClinGen TOPMed gnomAD
CA356697232 rs1477484914	721	I>T		No	ClinGen TOPMed
rs767207351 CA2895881	722	P>S		No	ClinGen ExAC gnomAD
rs761175907 CA2895880	723	I>V		No	ClinGen ExAC gnomAD
rs1298020531 CA356697143	730	R>K		No	ClinGen gnomAD
rs773938769 CA2895879	731	G>S		No	ClinGen ExAC gnomAD
rs1379916886 CA356697114	732	T>A		No	ClinGen gnomAD
CA95710629 rs368518924	740	V>L		No	ClinGen ESP TOPMed gnomAD
CA95710638 rs368518924	740	V>M		No	ClinGen ESP TOPMed gnomAD
TCGA novel	742	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1254115439 CA356696960	743	I>T		No	ClinGen gnomAD
rs768089226 CA2895878	744	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs375949176 CA2895876	745	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs769571147 CA2895875	746	I>T		No	ClinGen ExAC gnomAD
TCGA novel	749	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356696793 rs1560445179	757	I>V		No	ClinGen Ensembl
TCGA novel	758	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_082313	759	E>del	found in a patient with cohesinopathy; unknown pathological significance [UniProt]	No	UniProt
TCGA novel	761	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356696624 rs1385974145	763	R>K		No	ClinGen gnomAD
rs1165356945 CA356696606	764	S>N		No	ClinGen gnomAD
CA95709894 rs942580536	766	N>S		No	ClinGen Ensembl
CA356696574 rs1205530315	767	A>V		No	ClinGen gnomAD
rs1243433421 CA356696552	771	E>Q		No	ClinGen TOPMed gnomAD
CA95709867 rs904452984	774	I>K		No	ClinGen TOPMed gnomAD
rs762516093 CA2895858	774	I>V		No	ClinGen ExAC gnomAD
CA356696495 rs1250690663	776	P>A		No	ClinGen TOPMed
rs1467758588 CA356696486	776	P>L		No	ClinGen TOPMed
rs1299153924 CA356696468	778	V>L		No	ClinGen gnomAD
CA356696401 rs1388830981	783	I>T		No	ClinGen gnomAD
CA356696382 rs1458607144	785	M>K		No	ClinGen gnomAD
CA2895856 rs769736271	785	M>V		No	ClinGen ExAC TOPMed gnomAD
CA95709851 rs201851264	787	A>V		No	ClinGen gnomAD
CA356696339 rs1168649293	789	D>Y		No	ClinGen TOPMed gnomAD
CA2895855 rs745613965	792	A>V		No	ClinGen ExAC gnomAD
CA2895854 rs368105443	795	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1265010184 CA356696166	798	V>I		No	ClinGen gnomAD
CA95709837 rs563189311	810	N>K		No	ClinGen 1000Genomes
CA95709829 rs1047186012	812	R>K		No	ClinGen TOPMed
CA356718692 rs1578639175	813	S>P		No	ClinGen Ensembl
rs1341324147 CA356718674 COSM1055277	814	T>A	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	816	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2895839 rs751218532	819	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1372398153 CA356718493	821	L>Q		No	ClinGen Ensembl
rs763657206 CA2895838	824	P>T		No	ClinGen ExAC gnomAD
CA2895837 rs762391397	825	D>N		No	ClinGen ExAC TOPMed gnomAD
rs765119434 CA2895835	830	P>A		No	ClinGen ExAC gnomAD
CA95745301 rs867275233	831	E>D		No	ClinGen Ensembl
CA95745299 rs962415648	832	V>L		No	ClinGen Ensembl
CA2895818 rs549448872	839	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1226676632 CA356716786	842	L>V		No	ClinGen TOPMed gnomAD
rs777435206 CA2895817	851	N>S		No	ClinGen ExAC gnomAD
rs1189407210 CA356716548	854	S>T		No	ClinGen TOPMed
rs1030432270 CA95743910	858	N>S		No	ClinGen TOPMed gnomAD
rs1233771710 CA356716461	860	T>A		No	ClinGen gnomAD
COSM283943 CA356716331 rs1177457333	866	A>V	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs759106479 CA356716126	876	E>D		No	ClinGen ExAC TOPMed gnomAD
rs570310870 CA2895812	878	K>R		No	ClinGen ExAC gnomAD
CA356716038 rs1358983117	881	S>G		No	ClinGen TOPMed
CA2895793 rs753304959	885	M>T		No	ClinGen ExAC TOPMed gnomAD
rs368679585 CA2895792	886	S>F		No	ClinGen ESP ExAC gnomAD
CA2895791 rs755970646	887	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1456552052 CA356715432	889	R>*		No	ClinGen gnomAD
rs750420352 CA2895790	892	A>S		No	ClinGen ExAC gnomAD
CA2895789 rs767404786	896	I>V		No	ClinGen ExAC gnomAD
CA2895788 rs199885028	898	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA95741820 rs763421396	903	P>A		No	ClinGen Ensembl
rs775785996 CA2895787	909	I>T		No	ClinGen ExAC gnomAD
rs560365014 CA95741818	909	I>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1303779262 CA356714835	920	V>I		No	ClinGen gnomAD
rs1373941057 CA356714803	921	I>T		No	ClinGen gnomAD
rs1442655578 CA356714812	921	I>V		No	ClinGen gnomAD
TCGA novel	924	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	925	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs959050945 CA356714533	931	I>L		No	ClinGen TOPMed
rs959050945 CA95741654	931	I>V		No	ClinGen TOPMed
TCGA novel	937	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356714460 rs1560435978	937	H>Y		No	ClinGen Ensembl
rs1200256272 CA356714446	939	A>T		No	ClinGen TOPMed
CA356714433 CA95741639 rs973419497	941	V>L		No	ClinGen gnomAD
CA356714412 rs1212802633	944	L>V		No	ClinGen TOPMed gnomAD
rs573474029 CA2895759	948	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1175953702 CA356714359	951	A>E		No	ClinGen TOPMed
rs1295480045 CA356714197	960	P>L		No	ClinGen gnomAD
rs1384526172 CA356714194	961	V>M		No	ClinGen gnomAD
CA2895755 rs553311650	967	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs769185051 CA2895753	968	A>S		No	ClinGen ExAC TOPMed gnomAD
CA356714026 rs1260385535	970	Q>L		No	ClinGen gnomAD
rs751579682 CA2895749	976	I>V		No	ClinGen ExAC
TCGA novel	976	I>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777383127 CA2895748	977	S>G		No	ClinGen ExAC gnomAD
rs758225510 CA2895747	979	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1260779412 CA356713416	981	E>G		No	ClinGen gnomAD
TCGA novel	983	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2895746 rs753940583	984	K>R		No	ClinGen ExAC gnomAD
CA2895745 rs372601965	988	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA356713262 rs1250818299	991	E>D		No	ClinGen gnomAD
TCGA novel	993	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2895732 rs746885688	994	L>S		No	ClinGen ExAC TOPMed gnomAD
rs370459950 CA2895731	995	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA356713097 rs1252221569	1001	V>I		No	ClinGen gnomAD
rs866468830 CA95741341	1004	Y>*		No	ClinGen Ensembl
rs1390958284 CA356713046	1004	Y>C		No	ClinGen TOPMed
CA95741332 rs971410388	1005	M>T		No	ClinGen TOPMed gnomAD
rs867548959 CA95741318	1007	H>N		No	ClinGen Ensembl
CA356712964 rs1320953777	1010	A>T		No	ClinGen TOPMed
CA356712938 rs1578625527	1011	H>R		No	ClinGen Ensembl
CA356712834 rs1441921272	1016	T>A		No	ClinGen gnomAD
TCGA novel	1019	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356712762 rs1348852194	1021	V>I		No	ClinGen TOPMed
rs868220045 CA95741302 COSM187592	1025	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA95741298 rs937477858	1025	R>H		No	ClinGen gnomAD
CA356712617 rs1389561502	1027	I>L		No	ClinGen TOPMed gnomAD
CA356712596 rs1395733080	1027	I>T		No	ClinGen gnomAD
rs1389561502 CA356712615	1027	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	1030	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs975472096 CA95736435	1032	W>R		No	ClinGen TOPMed gnomAD
rs1156288481 CA356710450	1034	M>T		No	ClinGen gnomAD
rs1578601422 CA356710460	1034	M>V		No	ClinGen Ensembl
rs80238938 CA95736432	1040	T>K		No	ClinGen Ensembl
rs770498159 CA2895714	1043	E>K		No	ClinGen ExAC gnomAD
CA2895713 rs578211023	1045	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs773007778 CA2895712	1046	S>C		No	ClinGen ExAC gnomAD
TCGA novel	1047	H>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747862865 CA356710102	1048	A>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1048	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747862865 CA2895710	1048	A>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1048	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2895708 rs371324865	1053	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA356710012 rs371324865	1053	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs746027697 CA2895707	1054	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1204781382 CA356709924	1057	I>V		No	ClinGen TOPMed gnomAD
CA356709894 rs1460109481	1058	K>M		No	ClinGen TOPMed gnomAD
CA356709896 rs1460109481	1058	K>R		No	ClinGen TOPMed gnomAD
CA2895705 rs757319737	1063	A>S		No	ClinGen ExAC TOPMed gnomAD
rs764479996 CA356709784	1065	S>C		No	ClinGen ExAC TOPMed gnomAD
CA2895703 rs764479996	1065	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs758421587 CA2895680	1078	V>I		No	ClinGen ExAC TOPMed gnomAD
CA356709392 rs1206475766	1082	A>T		No	ClinGen TOPMed
CA95736178 rs369256353	1083	L>V		No	ClinGen ESP TOPMed
CA95736175 rs973104851	1088	S>R		No	ClinGen Ensembl
TCGA novel	1089	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356709303 rs1468036184	1090	S>G		No	ClinGen gnomAD
rs199515831 CA2895679	1094	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1096	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2895677 rs755380083	1102	V>I		No	ClinGen ExAC gnomAD
rs116533307 CA2895676	1105	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA95736158 rs899903745	1107	F>L		No	ClinGen TOPMed gnomAD
TCGA novel	1110	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2895672 rs766990597	1111	P>S		No	ClinGen ExAC TOPMed gnomAD
CA356708986 rs766990597	1111	P>T		No	ClinGen ExAC TOPMed gnomAD
rs779540029 CA2895655	1114	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1115	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs910519100 CA95735106	1118	D>N		No	ClinGen TOPMed gnomAD
TCGA novel	1118	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754424805 CA2895653	1120	S>N		No	ClinGen ExAC TOPMed gnomAD
CA356707645 rs754424805	1120	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1311473382 CA356707565	1125	E>K		No	ClinGen gnomAD
CA356707506 rs1176775223	1127	R>K		No	ClinGen TOPMed
rs1434302442 CA356707491	1127	R>S		No	ClinGen gnomAD
rs1379621930 CA356707471	1128	V>I		No	ClinGen TOPMed
rs1356331360 CA356707099	1135	P>L		No	ClinGen gnomAD
CA356707070 rs1451928563	1136	K>N		No	ClinGen gnomAD
CA2895632 rs779093536	1142	G>D		No	ClinGen ExAC TOPMed gnomAD
CA95734682 rs779093536	1142	G>V		No	ClinGen ExAC TOPMed gnomAD
CA356706893 rs1322237156	1144	V>I		No	ClinGen TOPMed gnomAD
CA356706799 rs1185530713	1147	P>L		No	ClinGen gnomAD
rs780868955 CA2895626	1148	L>S		No	ClinGen ExAC TOPMed gnomAD
COSM3428494 rs910909181 CA95734652	1151	T>M	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA2895624 rs751236430	1152	G>E		No	ClinGen ExAC TOPMed gnomAD
CA95734642 rs1050634950	1154	K>R		No	ClinGen Ensembl
rs757908959 CA2895622	1155	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2895621 rs752627402	1159	S>G		No	ClinGen ExAC gnomAD
CA2895620 rs765144412	1160	T>A		No	ClinGen ExAC gnomAD
rs527745895 CA2895619	1160	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356706518 rs527745895	1160	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356706500 rs1560421374	1161	G>D		No	ClinGen Ensembl
rs1380714925 CA356706481	1162	T>A		No	ClinGen gnomAD
rs1361588804 CA356706476	1162	T>S		No	ClinGen gnomAD
CA356706466 rs1289511658	1163	E>K	Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2895616 rs190770209	1170	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs768784889 CA2895614	1173	E>G		No	ClinGen ExAC gnomAD
rs774724792 CA2895615	1173	E>K		No	ClinGen ExAC gnomAD
CA2895613 rs749441964	1174	L>P		No	ClinGen ExAC gnomAD
CA356706235 rs1177706653	1175	N>T		No	ClinGen TOPMed
rs940975618 CA95734599	1176	P>A		No	ClinGen TOPMed gnomAD
rs776046561 CA2895612	1176	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	1176	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1250610944 CA356706189	1179	G>R		No	ClinGen gnomAD
CA356706167 rs1264634664	1180	N>I		No	ClinGen Ensembl
rs1213573036 CA356706148	1181	R>L		No	ClinGen TOPMed gnomAD
CA356706154 rs1213573036	1181	R>Q		No	ClinGen TOPMed gnomAD
rs1414038885 CA356704801	1184	E>Q		No	ClinGen TOPMed
rs1234122833 CA356704738	1185	Q>H		No	ClinGen gnomAD
rs1331605389 CA356704708	1187	S>L		No	ClinGen gnomAD
CA95733121 rs970953809	1189	A>E		No	ClinGen TOPMed
CA95733122 rs1020134270	1189	A>T		No	ClinGen Ensembl
rs1308452820 CA356704511	1198	E>G		No	ClinGen gnomAD
CA2895592 rs775394993	1203	R>M		No	ClinGen ExAC gnomAD
rs1373301579 CA356704405	1204	I>V		No	ClinGen gnomAD
rs1172471837 CA356704300	1210	V>I		No	ClinGen TOPMed gnomAD
CA2895591 rs769941802	1214	D>E		No	ClinGen ExAC gnomAD
rs1378879158 CA356704170	1216	V>I		No	ClinGen gnomAD
CA2895590 rs746304788	1217	K>R		No	ClinGen ExAC gnomAD
CA2895589 rs199938973	1218	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1228432404 CA356704117	1218	N>T		No	ClinGen TOPMed
rs1252949581 CA356704101	1219	K>E		No	ClinGen gnomAD
CA356702832 rs1355110322	1221	I>T		No	ClinGen TOPMed
CA95730149 rs751864011	1221	I>V		No	ClinGen Ensembl
CA356702777 rs1283416475	1224	D>G		No	ClinGen gnomAD
rs759728272 CA2895573	1225	Q>P		No	ClinGen ExAC gnomAD
rs776990981 CA95730136	1229	G>D		No	ClinGen ExAC TOPMed gnomAD
rs776990981 CA2895572	1229	G>V		No	ClinGen ExAC TOPMed gnomAD
rs771475721 CA2895571	1230	N>S		No	ClinGen ExAC gnomAD
CA356702655 rs1433797034	1231	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs760995296 CA2895570	1235	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs746446812 CA95730119	1238	K>E		No	ClinGen Ensembl
CA2895568 rs772446235	1238	K>N		No	ClinGen ExAC TOPMed gnomAD
rs773524060 CA2895569	1238	K>R		No	ClinGen ExAC gnomAD
CA356702486 rs1560415253	1240	T>K		No	ClinGen Ensembl
CA2895567 rs747694338	1241	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs778629294 CA2895566	1243	A>T		No	ClinGen ExAC gnomAD
CA2895565 rs768042410	1248	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1192753753 CA356702342	1249	I>T		No	ClinGen gnomAD
rs1442993985 CA356702307	1251	Q>K		No	ClinGen TOPMed
rs1210472383 CA356702264	1253	T>A		No	ClinGen gnomAD
TCGA novel	1253	T>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2895563 rs780111750	1253	T>R		No	ClinGen ExAC TOPMed gnomAD
CA356702253 rs1420263441	1254	D>N		No	ClinGen TOPMed
rs1228727653 CA356702197	1255	E>K		No	ClinGen gnomAD
rs756082832 CA2895562	1259	E>K		No	ClinGen ExAC gnomAD
rs200621682 CA2895561	1260	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs572018041 CA2895559	1261	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA2895558 rs752859586	1263	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs181933926 CA2895556	1264	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2895555 rs764522553	1264	A>V		No	ClinGen ExAC TOPMed gnomAD
CA356701939 rs1417830817	1265	P>A		No	ClinGen gnomAD
rs372585732 CA2895554	1265	P>L		No	ClinGen ESP ExAC gnomAD
CA2895553 rs761119811	1266	S>T		No	ClinGen ExAC TOPMed gnomAD
CA2895552 rs773720637	1267	K>N		No	ClinGen ExAC gnomAD
rs772352579 CA2895551	1268	P>L		No	ClinGen ExAC
rs1191885766 CA356701882	1268	P>S		No	ClinGen TOPMed gnomAD
CA356701835 rs1222220142	1272	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs763310762 CA2895548 COSM3409288	1272	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2895547 rs748927296	1273	R>*		No	ClinGen ExAC gnomAD
rs1350417135 CA356701815	1273	R>Q		No	ClinGen TOPMed
CA356701779 rs1201453726	1275	K>R		No	ClinGen TOPMed
TCGA novel	1276	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356701649 rs1203948953	1281	N>D		No	ClinGen gnomAD
CA356701650 rs1203948953	1281	N>H		No	ClinGen gnomAD
CA95729920 rs776087249	1281	N>S		No	ClinGen TOPMed gnomAD
CA356701607 rs1268527769	1282	A>V		No	ClinGen gnomAD
rs779663654 CA2895546	1285	N>Y		No	ClinGen ExAC gnomAD
rs769446864 CA2895545	1286	D>E		No	ClinGen ExAC gnomAD
CA356701426 rs1366299226	1291	P>L		No	ClinGen TOPMed gnomAD
rs1439248048 CA356701407	1292	I>S		No	ClinGen gnomAD
CA356701421 rs1210424457	1292	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1296	R>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA95729901 rs927800937	1296	R>K		No	ClinGen TOPMed gnomAD
CA2895544 rs745736268	1297	K>R		No	ClinGen ExAC gnomAD
rs781346079 CA2895543	1299	A>T		No	ClinGen ExAC gnomAD
TCGA novel	1299	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2895542 rs115575413	1301	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1304	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746872077 CA2895541	1304	E>K		No	ClinGen ExAC gnomAD
CA2895540 rs778970158	1305	S>I		No	ClinGen ExAC TOPMed gnomAD
CA356701124 rs1355331687	1307	G>R		No	ClinGen Ensembl
rs1560414971 CA356701106	1308	G>A		No	ClinGen Ensembl
CA2895539 rs755186328	1308	G>S		No	ClinGen ExAC gnomAD
rs754081758 TCGA novel CA356701040	1309	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
TCGA novel	1309	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759590781 CA2895537	1310	E>K		No	ClinGen ExAC TOPMed gnomAD
rs756186770 CA2895536	1311	A>T		No	ClinGen ExAC gnomAD
CA356700943 rs1208299991	1312	G>D		No	ClinGen TOPMed gnomAD
CA356700810 rs762058912	1315	K>R		No	ClinGen ExAC gnomAD
rs762058912 CA2895533	1315	K>T		No	ClinGen ExAC gnomAD
rs1467939762 CA356700738	1317	P>S		No	ClinGen TOPMed
CA2895532 rs774740163	1318	K>R		No	ClinGen ExAC gnomAD
CA356700685 rs1371875769	1319	L>R		No	ClinGen gnomAD
TCGA novel	1321	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356700589 rs1410894942	1322	L>*		No	ClinGen gnomAD
CA2895528 rs769424697	1323	A>G		No	ClinGen ExAC gnomAD
CA2895529 rs775289479	1323	A>T		No	ClinGen ExAC gnomAD
TCGA novel	1325	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2895527 rs745429865	1326	A>S		No	ClinGen ExAC gnomAD
CA356700359 rs1409740072	1329	A>T		No	ClinGen gnomAD
CA356700128 rs1472762958	1335	L>S		No	ClinGen gnomAD

No associated diseases with Q29RF7

No regional properties for Q29RF7

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q29RF7

Functions

		Description
EC Number
Subcellular Localization	Nucleus	Associated with chromatin through most of the cell cycle Dissociates from chromatin in late prophase, reassociates during late telophase
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
chromosome	A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
chromosome, centromeric region	The region of a chromosome that includes the centromeric DNA and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

4 GO annotations of biological process

Name	Definition
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
mitotic sister chromatid cohesion	The cell cycle process in which the sister chromatids of a replicated chromosome are joined along the entire length of the chromosome, from their formation in S phase through metaphase during a mitotic cell cycle. This cohesion cycle is critical for high fidelity chromosome transmission.
negative regulation of DNA replication	Any process that stops, prevents, or reduces the frequency, rate or extent of DNA replication.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q04264	PDS5	Sister chromatid cohesion protein PDS5	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q4VA53	Pds5b	Sister chromatid cohesion protein PDS5 homolog B	Mus musculus (Mouse)	PR
Q6A026	Pds5a	Sister chromatid cohesion protein PDS5 homolog A	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MDFTAQPKPA	TALCGVVSAD	GKIAYPPGVK	EITDKITTDE	MIKRLKMVVK	TFMDMDQDSE
70	80	90	100	110	120
DEKQQYLPLA	LHLASEFFLR	NPNKDVRLLV	ACCLADIFRI	YAPEAPYTSH	DKLKDIFLFI
130	140	150	160	170	180
TRQLKGLEDT	KSPQFNRYFY	LLENLAWVKS	YNICFELEDC	NEIFIQLFRT	LFSVINNSHN
190	200	210	220	230	240
KKVQMHMLDL	MSSIIMEGDG	VTQELLDSIL	INLIPAHKNL	NKQSFDLAKV	LLKRTVQTIE
250	260	270	280	290	300
ACIANFFNQV	LVLGRSSVSD	LSEHVFDLIQ	ELFAIDPHLL	LSVMPQLEFK	LKSNDGEERL
310	320	330	340	350	360
AVVRLLAKLF	GSKDSDLATQ	NRPLWQCFLG	RFNDIHVPVR	LESVKFASHC	LMNHPDLAKD
370	380	390	400	410	420
LTEYLKVRSH	DPEEAIRHDV	IVTIITAAKR	DLALVNDQLL	GFVRERTLDK	RWRVRKEAMM
430	440	450	460	470	480
GLAQLYKKYC	LHGEAGKEAA	EKVSWIKDKL	LHIYYQNSID	DKLLVEKIFA	QYLVPHNLET
490	500	510	520	530	540
EERMKCLYYL	YASLDPNAVK	ALNEMWKCQN	MLRSHVRELL	DLHKQPTSEA	NCSAMFGKLM
550	560	570	580	590	600
TIAKNLPDPG	KAQDFVKKFN	QVLGDDEKLR	SQLELLISPT	CSCKQADICV	REIARKLANP
610	620	630	640	650	660
KQPTNPFLEM	VKFLLERIAP	VHIDSEAISA	LVKLMNKSIE	GTADDEEEGV	SPDTAIRSGL
670	680	690	700	710	720
ELLKVLSFTH	PTSFHSAETY	ESLLQCLRME	DDKVAEAAIQ	IFRNTGHKIE	TDLPQIRSTL
730	740	750	760	770	780
IPILHQKAKR	GTPHQAKQAV	HCIHAIFTNK	EVQLAQIFEP	LSRSLNADVP	EQLITPLVSL
790	800	810	820	830	840
GHISMLAPDQ	FASPMKSVVA	NFIVKDLLMN	DRSTGEKNGK	LWSPDEEVSP	EVLAKVQAIK
850	860	870	880	890	900
LLVRWLLGMK	NNQSKSANST	LRLLSAMLVS	EGDLTEQKRI	SKSDMSRLRL	AAGSAIMKLA
910	920	930	940	950	960
QEPCYHEIIT	PEQFQLCALV	INDECYQVRQ	IFAQKLHKAL	VKLLLPLEYM	AIFALCAKDP
970	980	990	1000	1010	1020
VKERRAHARQ	CLLKNISIRR	EYIKQNPMAT	EKLLSLLPEY	VVPYMIHLLA	HDPDFTRSQD
1030	1040	1050	1060	1070	1080
VDQLRDIKEC	LWFMLEVLMT	KNENNSHAFM	KKMAENIKLT	RDAQSPDESK	TNEKLYTVCD
1090	1100	1110	1120	1130	1140
VALCVINSKS	ALCNADSPKD	PVLPMKFFTQ	PEKDFCNDKS	YISEETRVLL	LTGKPKPAGV
1150	1160	1170	1180	1190	1200
LGAVNKPLSA	TGRKPYVRST	GTETGSNINV	NSELNPSTGN	RSREQSSEAA	ETGVSENEEN
1210	1220	1230	1240	1250	1260
PVRIISVTPV	KNIDPVKNKE	INSDQATQGN	ISSDRGKKRT	VTAAGAENIQ	QKTDEKVDES
1270	1280	1290	1300	1310	1320
GPPAPSKPRR	GRRPKSESQG	NATKNDDLNK	PINKGRKRAA	VGQESPGGLE	AGNAKAPKLQ
1330
DLAKKAAPAE	RQIDLQR