AiPD: Autoinhibited Protein Database

P30260

Gene name	CDC27 (ANAPC3, D0S1430E, D17S978E)
Protein name	Cell division cycle protein 27 homolog
Names	Anaphase-promoting complex subunit 3, APC3, CDC27 homolog, CDC27Hs, H-NUC
Species	Homo sapiens (Human)
KEGG Pathway	hsa:996
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

296-423 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

296-423 (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

23 structures for P30260

Entry ID	Method	Resolution	Chain	Position	Source
3T1N	X-ray	260 A	C/D	821-824	PDB
4RG6	X-ray	330 A	A/B	1-824	PDB
4RG7	X-ray	425 A	A/B	1-824	PDB
4RG9	X-ray	325 A	A/B	1-824	PDB
4UI9	EM	360 A	F/H	1-824	PDB
5A31	EM	430 A	F/H	1-824	PDB
5G04	EM	400 A	F/H	1-824	PDB
5G05	EM	340 A	F/H	1-824	PDB
5KHR	EM	610 A	F/H	1-824	PDB
5KHU	EM	480 A	F/H	1-824	PDB
5L9T	EM	640 A	F/H	1-824	PDB
5L9U	EM	640 A	F/H	1-824	PDB
5LCW	EM	400 A	F/H	1-824	PDB
6Q6G	EM	320 A	J/P	1-824	PDB
6Q6H	EM	320 A	J/P	1-824	PDB
6TLJ	EM	380 A	F/H	1-824	PDB
6TM5	EM	390 A	F/H	1-824	PDB
6TNT	EM	378 A	F/H	1-824	PDB
7QE7	EM	290 A	J/P	1-824	PDB
8PKP	EM	320 A	J/P	1-824	PDB
8TAR	EM	400 A	J/P	1-824	PDB
8TAU	EM	350 A	J/P	1-824	PDB
AF-P30260-F1	Predicted				AlphaFoldDB

663 variants for P30260

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs62077280 RCV000984724 CA291212119	2	T>A	Esophageal atresia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA400026115 rs1255273610	2	T>M		No	ClinGen gnomAD
rs62077279 CA291212105	6	E>G		No	ClinGen Ensembl
CA400026003 rs755449502	8	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8622512 rs755449502	8	V>L		No	ClinGen ExAC TOPMed gnomAD
rs773168963 CA8622498	11	A>V		No	ClinGen ExAC gnomAD
CA8622497 rs772259400	15	A>T		No	ClinGen ExAC gnomAD
rs1208260657 CA400024701	18	H>Y		No	ClinGen TOPMed gnomAD
rs1235533509 CA400024616	21	Y>H		No	ClinGen gnomAD
TCGA novel	22	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	22	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400024537 rs1327645979 COSM706041 COSM706040	24	A>E	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs768964687 CA8622494	25	V>I		No	ClinGen ExAC TOPMed gnomAD
rs62077276 CA291206115 COSM4130310 COSM4130309	26	F>S	thyroid [Cosmic]	No	ClinGen cosmic curated Ensembl
CA291206088 COSM4130307 COSM4130308 rs62077275	27	L>P	thyroid [Cosmic]	No	ClinGen cosmic curated Ensembl
CA8622492 rs373344958	30	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8622491 rs756596685	30	R>H		No	ClinGen ExAC gnomAD
rs1415056352 CA400024378	31	L>F		No	ClinGen gnomAD
rs1567723719 CA400024316	32	Y>*		No	ClinGen Ensembl
CA8622490 rs750878717	32	Y>C		No	ClinGen ExAC gnomAD
rs1389585393 CA400024361	32	Y>H		No	ClinGen gnomAD
CA8622489 rs781548146	33	A>G		No	ClinGen ExAC gnomAD
CA291206062 rs868180572	33	A>S		No	ClinGen Ensembl
rs1247782619 CA400022041	37	S>L		No	ClinGen gnomAD
CA400022001 rs1209762611	40	A>V		No	ClinGen TOPMed gnomAD
CA400021994 rs1449172865	41	L>S		No	ClinGen gnomAD
rs62077270 CA400021906	48	Y>F		No	ClinGen gnomAD
CA291198568 rs62077270	48	Y>S		No	ClinGen gnomAD
TCGA novel	51	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400021872 rs1280633612	51	S>P		No	ClinGen gnomAD
rs1362664577 CA400021858	52	G>E		No	ClinGen gnomAD
CA400021836 rs1296529846	54	A>S		No	ClinGen gnomAD
CA8622463 rs750151095	55	Y>C		No	ClinGen ExAC gnomAD
CA400021827 rs1346840491	55	Y>H		No	ClinGen TOPMed gnomAD
TCGA novel	56	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs62077268 CA291198544	57	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1284027 rs199907013 CA8622460 COSM1284028	58	Y>*	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1391744356 CA400021768	59	R>K		No	ClinGen gnomAD
CA8622459 rs764207047	66	C>*		No	ClinGen ExAC gnomAD
CA400021634 rs76782714	67	T>A		No	ClinGen ExAC TOPMed gnomAD
CA8622458 rs76782714	67	T>P		No	ClinGen ExAC TOPMed gnomAD
rs142853734 CA8622456 COSM1166710 COSM1166711	69	P>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs775842128 CA8622457	69	P>S		No	ClinGen ExAC
rs747450241 CA8622452	71	C>*		No	ClinGen ExAC gnomAD
TCGA novel	72	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA291198479 rs62077266	73	Y>C		No	ClinGen Ensembl
CA400021478 rs1280406350	74	L>P		No	ClinGen gnomAD
CA8622451 rs778248009	78	C>W		No	ClinGen ExAC gnomAD
rs1166858562 CA400020678	80	V>I		No	ClinGen TOPMed
rs974571745 CA291198461	84	K>M		No	ClinGen TOPMed
CA291197038 rs763480851	85	L>F		No	ClinGen Ensembl
CA8622442 rs199782161	87	E>Q		No	ClinGen ExAC gnomAD
rs1260239972 CA400020475	88	G>V		No	ClinGen gnomAD
CA291197018 rs79348596	89	E>D		No	ClinGen Ensembl
rs1411019939 CA400020466	89	E>G		No	ClinGen TOPMed
rs371549435 CA8622440	93	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA400020423 rs1426119090	93	S>P		No	ClinGen TOPMed
rs886175960 CA291196985	98	N>H		No	ClinGen Ensembl
CA8622438 rs201141157	98	N>S		No	ClinGen ExAC gnomAD
rs759628999 CA8622437	99	K>R		No	ClinGen ExAC gnomAD
CA8622436 rs73319503	100	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
COSM3402956 rs1397897690 CA400020320 COSM3402957	103	H>R	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1598561840 CA400020309	104	D>E		No	ClinGen Ensembl
CA8622432 rs112488600	108	T>A		No	ClinGen ExAC gnomAD
rs112488600 CA291196922	108	T>P		No	ClinGen ExAC gnomAD
COSM1130247 CA8622431 COSM1130248 rs199529489	109	E>D	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	109	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1130251 rs748858854 COSM1130250 CA8622430	111	G>D	urinary_tract stomach prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM1130254 CA8622429 COSM1130253 rs779379145	113	S>T	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs111886110 CA291196907	115	C>R		No	ClinGen Ensembl
rs201303434 CA8622428	117	T>P		No	ClinGen ExAC gnomAD
rs1462326971 CA400020226	117	T>S		No	ClinGen gnomAD
CA8622425 rs757179729	119	S>P		No	ClinGen ExAC gnomAD
CA400020210 rs1598561577	120	L>S		No	ClinGen Ensembl
TCGA novel	121	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400020203 rs1598561528	121	L>S		No	ClinGen Ensembl
TCGA novel	124	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400020176 rs1406589642	125	Y>C		No	ClinGen gnomAD
rs1447218338 CA400020169	126	C>G		No	ClinGen TOPMed
rs745362489 CA8622410	126	C>W		No	ClinGen ExAC gnomAD
rs377249897 CA291186977	127	K>R		No	ClinGen TOPMed gnomAD
TCGA novel	128	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400018921 rs1254636501	129	D>H		No	ClinGen gnomAD
CA8622408 rs770679862	130	R>L		No	ClinGen ExAC TOPMed gnomAD
rs770679862 CA8622409	130	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA291186965 COSM3819807 rs745491637 COSM3819806	130	R>W	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs74398156 CA8622407	132	A>S		No	ClinGen ExAC gnomAD
rs74398156 CA291186930	132	A>T		No	ClinGen ExAC gnomAD
CA8622406 rs777664015	133	K>Q		No	ClinGen ExAC
rs1217985473 CA400018843	134	G>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs891835409 CA291186910	136	E>K		No	ClinGen Ensembl
CA291186905 rs961045871	137	C>Y		No	ClinGen TOPMed gnomAD
rs866068857 CA291186891	138	Y>*		No	ClinGen Ensembl
rs79936417 CA291186892	138	Y>D		No	ClinGen gnomAD
CA400018806 rs1235279038	139	Q>R		No	ClinGen gnomAD
CA400018793 rs1295769883	141	S>C		No	ClinGen gnomAD
rs1434865532 CA400018788	141	S>R		No	ClinGen gnomAD
TCGA novel	141	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA291186884 rs77320707	143	S>R		No	ClinGen Ensembl
rs74875648 CA291186876	144	L>*		No	ClinGen Ensembl
CA400018761 rs1363209146	145	N>K		No	ClinGen gnomAD
rs77467652 CA291186854	150	S>C		No	ClinGen ExAC gnomAD
CA8622405 rs77467652	150	S>F		No	ClinGen ExAC gnomAD
rs77467652 CA291186869	150	S>Y		No	ClinGen ExAC gnomAD
rs752511741 CA8622404	152	F>L		No	ClinGen ExAC gnomAD
TCGA novel	153	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs76190542 CA291186827	155	L>*		No	ClinGen Ensembl
CA400018693 rs1356927718	156	C>G		No	ClinGen gnomAD
CA8622403 rs549270533	158	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA400018357 rs1339386802	160	E>*		No	ClinGen gnomAD
rs529064011 CA291186022	160	E>D		No	ClinGen 1000Genomes gnomAD
rs1256753538 CA400018336	161	K>M		No	ClinGen gnomAD
rs1188686182 CA400018327 CA400018329	161	K>N		No	ClinGen gnomAD
CA400018332 rs1256753538	161	K>R		No	ClinGen gnomAD
CA400018282 rs1367650760	165	D>N		No	ClinGen TOPMed
CA8622372 rs771819554	167	T>I		No	ClinGen ExAC gnomAD
rs777628823 CA8622373	167	T>S		No	ClinGen ExAC gnomAD
CA291185958 rs796076888	169	K>*		No	ClinGen Ensembl
rs199899451 CA291185973	169	K>*		No	ClinGen Ensembl
rs202182614 CA291185966	169	K>R		No	ClinGen gnomAD
rs202182614 CA400018215	169	K>T		No	ClinGen gnomAD
rs1294469836 CA400018190	170	F>L		No	ClinGen gnomAD
rs1235734714 CA400018177	171	T>I		No	ClinGen gnomAD
rs75353677 CA8622367	173	L>F		No	ClinGen ExAC gnomAD
CA8622368 rs749389340	173	L>S		No	ClinGen ExAC gnomAD
CA291185905 rs143453365	174	Q>E		No	ClinGen Ensembl
CA291185888 rs113608268	174	Q>H		No	ClinGen Ensembl
CA8622366 rs756329654	174	Q>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	174	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8622365 rs750708395	175	N>K		No	ClinGen ExAC TOPMed gnomAD
CA291185878 rs147617501	175	N>S		No	ClinGen Ensembl
rs767769578 CA8622364	176	F>V		No	ClinGen ExAC TOPMed gnomAD
rs757615823 CA8622363	177	S>N		No	ClinGen ExAC gnomAD
TCGA novel	178	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400018049 rs1434298436	180	L>P		No	ClinGen TOPMed
rs751924279 CA8622362	180	L>V		No	ClinGen ExAC gnomAD
rs892181001 CA291185817	181	P>R		No	ClinGen gnomAD
rs149474782 CA291185820	181	P>S		No	ClinGen Ensembl
rs764543429 CA8622361	182	N>D		No	ClinGen ExAC gnomAD
rs368304141 CA291185788	182	N>K		No	ClinGen Ensembl
CA400018024 rs1438544139	183	S>A		No	ClinGen gnomAD
CA291185781 rs376818791	183	S>C		No	ClinGen Ensembl
CA291185744 rs372212798	185	T>A		No	ClinGen Ensembl
CA291185710 rs374472811	187	Q>H		No	ClinGen Ensembl
rs367644695 CA291185717	187	Q>L		No	ClinGen Ensembl
rs370261409 CA291185699	188	V>G		No	ClinGen Ensembl
rs763506277 CA291185705	188	V>I		No	ClinGen ExAC
CA8622360 rs763506277	188	V>L		No	ClinGen ExAC
rs368750026 CA8622359	190	N>H	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs939192276 CA291185672	190	N>K		No	ClinGen gnomAD
rs78108688 CA8622358	190	N>S		No	ClinGen ExAC gnomAD
rs374614181 CA291185665	191	H>P		No	ClinGen Ensembl
rs537990668 CA291185658	192	S>T		No	ClinGen gnomAD
TCGA novel	193	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400017880 rs1327714808	193	L>S		No	ClinGen gnomAD
rs75990396 CA8622357	194	S>C		No	ClinGen ExAC TOPMed gnomAD
CA291185640 rs75990396	194	S>F		No	ClinGen ExAC TOPMed gnomAD
CA400017868 rs1598504812	195	H>R		No	ClinGen Ensembl
rs772789212 CA8622356	195	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA400017850 rs1308664709	197	Q>H		No	ClinGen TOPMed gnomAD
CA400017848 rs1438309829	198	P>A		No	ClinGen gnomAD
CA8622353 rs774144042	201	V>F		No	ClinGen ExAC gnomAD
CA8622354 rs774144042	201	V>I		No	ClinGen ExAC gnomAD
CA400017819 rs1267624059	203	T>A		No	ClinGen TOPMed
CA8622352 rs201098929	203	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs370849730 CA8622348	206	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs756247874 CA8622349	206	P>T		No	ClinGen ExAC gnomAD
rs1045037957 CA291185545	207	Q>H		No	ClinGen Ensembl
rs945502816 CA291185560	207	Q>P		No	ClinGen TOPMed
rs757464412 CA8622345	209	T>A		No	ClinGen ExAC TOPMed gnomAD
CA400017773 rs1186613280	210	I>M		No	ClinGen TOPMed
rs200340309 CA291185487	210	I>T		No	ClinGen Ensembl
CA291185516 rs76624491	210	I>V		No	ClinGen Ensembl
CA291185153 rs75204938	212	L>*		No	ClinGen gnomAD
rs202100614 COSM3819805 COSM3819804 CA8622309	213	N>D	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs779593188 CA8622308	213	N>S		No	ClinGen ExAC TOPMed gnomAD
rs78043820 CA400017743	214	R>*		No	ClinGen gnomAD
rs78043820 CA291185150	214	R>G		No	ClinGen gnomAD
rs755464253 CA8622307	214	R>I		No	ClinGen ExAC TOPMed gnomAD
rs749912253 CA8622306	215	L>V		No	ClinGen ExAC TOPMed
CA291185141 rs77095606	215	L>W		No	ClinGen gnomAD
CA400017732 rs1236089543	216	N>D		No	ClinGen gnomAD
rs1236089543 CA400017733	216	N>H		No	ClinGen gnomAD
TCGA novel	218	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400017706 rs1431308520	219	S>F		No	ClinGen gnomAD
rs761222826 CA8622304	219	S>P		No	ClinGen ExAC gnomAD
CA291185138 COSM1493949 rs866370539 COSM1493950	220	S>A	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1017723178 CA291185119	221	N>K		No	ClinGen Ensembl
CA400017692 rs1598503345	222	S>P		No	ClinGen Ensembl
rs1311096651 CA400017686	223	K>E		No	ClinGen TOPMed gnomAD
rs763717590 CA400017680	223	K>N		No	ClinGen ExAC gnomAD
rs1376186855 CA400017674	224	Y>F		No	ClinGen gnomAD
CA8622300 rs775229952	225	S>A		No	ClinGen ExAC gnomAD
rs1419245925 CA400017669	225	S>Y		No	ClinGen gnomAD
CA400017644 rs1476641092	229	D>H		No	ClinGen gnomAD
CA400017645 rs1476641092	229	D>N		No	ClinGen gnomAD
rs201187810 CA8622298	230	S>Y		No	ClinGen ExAC gnomAD
CA8622296 rs771111007	231	S>*		No	ClinGen ExAC
CA8622297 rs78072949	231	S>P		No	ClinGen ExAC gnomAD
CA400017628 rs1410500385	232	V>M		No	ClinGen gnomAD
rs1212559953 CA400017618	233	S>F		No	ClinGen gnomAD
CA8622294 rs778179915	233	S>P		No	ClinGen ExAC gnomAD
CA8622292 rs748545575	234	Y>*		No	ClinGen ExAC gnomAD
rs78493795 CA8622293	234	Y>S		No	ClinGen ExAC gnomAD
CA8622291 rs193061947	235	I>T		No	ClinGen ExAC gnomAD
CA400017602 rs1341341665	236	D>A		No	ClinGen TOPMed gnomAD
CA400017601 rs1341341665	236	D>G		No	ClinGen TOPMed gnomAD
rs755441004 CA8622290	237	S>*		No	ClinGen ExAC gnomAD
CA291185014 rs75184508	240	I>L		No	ClinGen gnomAD
CA400017575 rs780408665	240	I>M		No	ClinGen ExAC gnomAD
CA400017578 rs1354177161	240	I>N		No	ClinGen gnomAD
CA8622283 rs7350908	242	P>S		No	ClinGen ExAC TOPMed gnomAD
rs7350908 CA8622284	242	P>T		No	ClinGen ExAC TOPMed gnomAD
CA8622281 rs762548758	245	V>A		No	ClinGen ExAC gnomAD
CA400017549 rs763768990	245	V>F		No	ClinGen ExAC TOPMed gnomAD
CA8622282 rs763768990	245	V>I		No	ClinGen ExAC TOPMed gnomAD
CA400017539 rs1401232483	247	L>V		No	ClinGen TOPMed
CA8622279 rs764946481	248	G>E		No	ClinGen ExAC TOPMed gnomAD
rs759246580 CA8622278	250	G>E		No	ClinGen ExAC gnomAD
TCGA novel	251	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400017517 rs1468243093	251	T>S		No	ClinGen gnomAD
rs200148949 CA8622277	252	S>T		No	ClinGen ExAC gnomAD
CA400017507 rs766206603	253	I>L		No	ClinGen ExAC TOPMed gnomAD
rs373978944 CA8622275	253	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs766206603 CA8622276	253	I>V		No	ClinGen ExAC TOPMed gnomAD
rs62077264 CA291184928	254	L>*		No	ClinGen Ensembl
rs773375395 CA400017498	254	L>F		No	ClinGen ExAC gnomAD
rs1230920121 CA400017493	255	S>C		No	ClinGen gnomAD
CA400017485 rs1295140968	256	K>N		No	ClinGen gnomAD
rs1335399148 CA400017486	256	K>T		No	ClinGen gnomAD
rs772436784 CA400017476	257	Q>H		No	ClinGen ExAC gnomAD
rs1372821221 CA400017463	259	Q>H		No	ClinGen gnomAD
rs3208659 CA291184908	260	N>H		No	ClinGen Ensembl
CA400017454 rs748312745	261	K>E		No	ClinGen ExAC gnomAD
rs1009623014 CA291184898	261	K>N		No	ClinGen Ensembl
CA8622272 rs748312745	261	K>Q		No	ClinGen ExAC gnomAD
CA291184894 rs113206140	264	T>P		No	ClinGen Ensembl
CA8622270 rs7350889	265	G>D		No	ClinGen ExAC gnomAD
CA8622269 rs769120753	266	R>*		No	ClinGen ExAC gnomAD
CA400017423 rs1462359244	266	R>Q		No	ClinGen gnomAD
rs1166244554 CA400017411	268	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
VAR_035861	270	G>A	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs780654188 CA8622267	271	G>E		No	ClinGen ExAC gnomAD
rs756541507 CA8622266	272	P>L		No	ClinGen ExAC TOPMed gnomAD
CA400017383 rs756541507	272	P>R		No	ClinGen ExAC TOPMed gnomAD
CA400017385 rs1177414802	272	P>T		No	ClinGen gnomAD
rs200611688 CA8622265	273	A>G		No	ClinGen ExAC gnomAD
rs199588670 CA8622264	274	A>D		No	ClinGen ExAC gnomAD
CA400017373 rs199588670	274	A>G		No	ClinGen ExAC gnomAD
rs1192788754 CA400017375	274	A>S		No	ClinGen gnomAD
rs62077263 CA291184835	275	L>V		No	ClinGen gnomAD
rs758052049 CA8622263	277	P>A		No	ClinGen ExAC TOPMed gnomAD
rs201803403 CA291184815	278	L>F		No	ClinGen gnomAD
CA8622262 rs752413044	279	T>I		No	ClinGen ExAC TOPMed gnomAD
rs563697546 CA8622261	280	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1459924800 CA400017335	281	S>R		No	ClinGen gnomAD
CA291182895 rs79452779	282	F>V		No	ClinGen Ensembl
CA291182894 rs201209799	282	F>Y		No	ClinGen Ensembl
CA8622230 rs763032270	283	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1249917666 CA400016575	284	I>V		No	ClinGen gnomAD
rs138789655 CA8622227	290	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA291182837 rs138789655	290	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1598493202 CA400016521	291	S>G		No	ClinGen Ensembl
rs989366912 CA291182815	294	D>V		No	ClinGen Ensembl
TCGA novel	296	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs76383230 CA291182804	296	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA291182757 rs796572277	298	L>*		No	ClinGen Ensembl
TCGA novel	299	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200061079 CA291182724	301	Y>C		No	ClinGen Ensembl
rs796316978 CA291182716	303	N>D		No	ClinGen Ensembl
rs796302661 CA291182709	303	N>S		No	ClinGen Ensembl
CA8622224 rs747677921	304	T>I		No	ClinGen ExAC gnomAD
CA291182689 rs778227848	305	P>A		No	ClinGen ExAC TOPMed gnomAD
CA8622223 rs778227848	305	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8622222 rs79429845	306	P>S		No	ClinGen ExAC gnomAD
rs199711781 CA8622221	307	V>E		No	ClinGen ExAC gnomAD
rs201122029 CA291182643	308	I>M		No	ClinGen Ensembl
rs201735152 CA291182644	308	I>T		No	ClinGen Ensembl
CA8622218 rs74710570	309	D>E		No	ClinGen ExAC gnomAD
rs201351582 CA8622220	309	D>N		No	ClinGen ExAC gnomAD
rs1172718725 CA400016405	310	V>M		No	ClinGen gnomAD
rs1009015598 CA291182617	311	P>T		No	ClinGen Ensembl
CA400016390 rs1474225193	312	S>C		No	ClinGen gnomAD
rs150116111 CA8622217	313	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs150116111 CA8622216	313	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8622214 rs200268612	314	G>R	Variant assessed as Somatic; 4.844e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA291182609 rs1047577584	315	A>V		No	ClinGen Ensembl
rs1478549159 CA400016369	316	P>L		No	ClinGen gnomAD
CA400016374 rs1248724628	316	P>S		No	ClinGen gnomAD
CA291182608 rs929104743	317	S>P		No	ClinGen Ensembl
CA291182600 rs186452221	318	K>E		No	ClinGen TOPMed
TCGA novel	319	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA291180438 rs112746270	320	S>P		No	ClinGen Ensembl
TCGA novel	320	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867506107 CA291180424	325	G>D		No	ClinGen Ensembl
rs769586419 CA8622181	325	G>S		No	ClinGen ExAC TOPMed gnomAD
CA400016258 rs1444449147	326	Q>H		No	ClinGen gnomAD
rs1353321759 CA400016256	327	T>A		No	ClinGen gnomAD
rs745450296 CA8622179	327	T>I		No	ClinGen ExAC gnomAD
rs199890121 CA8622177	329	T>A		No	ClinGen ExAC gnomAD
CA291180398 rs201804958	330	K>Q		No	ClinGen gnomAD
CA400016239 rs200834582	330	K>R		No	ClinGen gnomAD
CA291180388 rs200834582	330	K>T		No	ClinGen gnomAD
TCGA novel	331	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8622176 rs746798199	336	S>G		No	ClinGen ExAC gnomAD
rs777613532 CA8622175	336	S>N		No	ClinGen ExAC TOPMed gnomAD
CA291180345 rs796852854	336	S>R		No	ClinGen Ensembl
rs1235236267 CA400016189	338	N>D		No	ClinGen gnomAD
CA291180338 rs796595683	338	N>K		No	ClinGen Ensembl
rs112187822 CA291180340	338	N>S		No	ClinGen Ensembl
rs201711178 CA291180331	339	S>R		No	ClinGen Ensembl
rs200529536 CA400016177	340	R>G		No	ClinGen TOPMed
CA8622174 rs79998271	340	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs748201552 CA8622173	341	E>D		No	ClinGen ExAC gnomAD
rs796457670 CA291180300	341	E>K		No	ClinGen Ensembl
CA400016155 rs1397300634	344	P>A		No	ClinGen TOPMed gnomAD
CA291180279 rs201447460	345	I>V		No	ClinGen TOPMed
rs186608264 CA291180269	348	Q>E		No	ClinGen 1000Genomes
rs186608264 CA291180277	348	Q>K		No	ClinGen 1000Genomes
rs778895847 CA8622172	349	T>S		No	ClinGen ExAC TOPMed gnomAD
rs76437119 CA291180263	350	Q>E		No	ClinGen Ensembl
rs755044189 CA8622170	353	G>R		No	ClinGen ExAC gnomAD
CA291180258 rs1046082236	355	Q>P		No	ClinGen Ensembl
CA400016080 COSM980384 rs1174695045 COSM980385	356	T>A	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs754116553 CA8622169	356	T>I		No	ClinGen ExAC gnomAD
CA291217395 rs796807395	358	T>A		No	ClinGen Ensembl
rs1396291204 CA400027816	358	T>K		No	ClinGen gnomAD
rs1486583275 CA400027809	359	T>A		No	ClinGen TOPMed gnomAD
rs1486583275 CA400027811	359	T>P		No	ClinGen TOPMed gnomAD
rs746811966 CA8622153	361	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA8622151 rs771905598	362	V>L		No	ClinGen ExAC gnomAD
CA291217385 rs201152963	364	S>I		No	ClinGen Ensembl
CA400027750 rs1185177999	365	P>A		No	ClinGen gnomAD
CA8622150 rs748148225	365	P>R		No	ClinGen ExAC gnomAD
CA8622148 rs77739281	367	I>M		No	ClinGen ExAC gnomAD
CA8622149 rs778807988	367	I>V		No	ClinGen ExAC TOPMed gnomAD
rs79454290 CA291217376	368	T>A		No	ClinGen gnomAD
rs1159468979 CA400027709	369	S>A		No	ClinGen Ensembl
CA400027705 rs1233207933	369	S>Y		No	ClinGen gnomAD
CA400027688 rs1347514417	371	P>L		No	ClinGen gnomAD
rs749330612 CA8622147	371	P>T		No	ClinGen ExAC gnomAD
CA8622145 rs76836956	372	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780282676 CA8622146	372	N>S		No	ClinGen ExAC gnomAD
rs757560801 CA8622142	373	A>G		No	ClinGen ExAC gnomAD
rs781555306 CA8622143 COSM980378 COSM980379	373	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA400027668 rs757560801	373	A>V		No	ClinGen ExAC gnomAD
CA291217370 rs80120716	374	L>P		No	ClinGen gnomAD
rs200676775 CA291217365	375	P>A		No	ClinGen Ensembl
rs200676775 CA291217366	375	P>T		No	ClinGen Ensembl
rs77440865 CA8622140	378	S>N		No	ClinGen ExAC gnomAD
rs199743911 CA291217355	378	S>R		No	ClinGen Ensembl
CA400027613 rs201321536	380	R>*		No	ClinGen ExAC gnomAD
rs1141701 CA291217350	382	F>L		No	ClinGen Ensembl
CA400027585 rs1311517565	383	T>A		No	ClinGen TOPMed gnomAD
rs1335540263 CA400027575	384	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA291217349 rs754306390	389	T>A		No	ClinGen gnomAD
CA291217347 rs1064545	390	K>E		No	ClinGen Ensembl
rs544208833	391	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs75040309 CA291216937	393	S>R		No	ClinGen gnomAD
CA291216935 rs78399615	394	K>R		No	ClinGen Ensembl
CA400027234 rs1398548797	395	K>N		No	ClinGen gnomAD
CA400027232 rs1379339282	396	L>I		No	ClinGen gnomAD
rs1250973827 CA400027214	397	K>T		No	ClinGen gnomAD
CA400027198 rs1296785926	398	M>I		No	ClinGen TOPMed
rs1488768309 CA400027203	398	M>K		No	ClinGen gnomAD
rs1488768309 CA400027202	398	M>T		No	ClinGen gnomAD
CA8622126 rs781261216	399	K>R		No	ClinGen ExAC TOPMed gnomAD
rs751941268 CA8622124	402	P>S		No	ClinGen ExAC TOPMed gnomAD
CA291216930 rs17856362	403	K>E		No	ClinGen ExAC gnomAD
CA8622123 rs17856362	403	K>Q		No	ClinGen ExAC gnomAD
CA291216929 rs74727415	408	K>R		No	ClinGen gnomAD
CA8622122 rs758928574	409	T>A		No	ClinGen ExAC gnomAD
CA291216922 rs201398298	412	K>E		No	ClinGen Ensembl
CA400027036 rs1344200204	413	T>I		No	ClinGen TOPMed
CA8622121 rs563164697	414	N>H		No	ClinGen 1000Genomes ExAC gnomAD
CA8622120 rs765977984	415	K>Q		No	ClinGen ExAC
rs77609498 CA8622118	417	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400026993 rs77609498	417	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400026990 rs77609498	417	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1184747995 CA400026982	418	I>V		No	ClinGen gnomAD
rs1477521844 CA400026959	419	T>I		No	ClinGen gnomAD
TCGA novel	420	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs77550690 CA291216912	420	Q>P		No	ClinGen Ensembl
CA8622117 rs767042213	421	P>R		No	ClinGen ExAC
CA400026941 rs1264065076	421	P>T		No	ClinGen gnomAD
CA8622116 rs761626815	423	I>L		No	ClinGen ExAC gnomAD
rs1484823243 CA400026901	423	I>R		No	ClinGen gnomAD
rs774081992 CA8622115	424	N>D		No	ClinGen ExAC gnomAD
rs75348707 CA291216900	424	N>S		No	ClinGen Ensembl
rs1278765450 CA400026883	425	D>V		No	ClinGen TOPMed
rs1202078291 CA400026873	426	S>G		No	ClinGen TOPMed
rs762807784 CA400026865	426	S>I		No	ClinGen ExAC gnomAD
rs762807784 CA8622113	426	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs78080061 CA291216887	429	I>M		No	ClinGen Ensembl
CA291216891 rs76519480	429	I>V		No	ClinGen Ensembl
rs775286853 CA8622112	432	L>S		No	ClinGen ExAC gnomAD
rs745914795 CA8622110	434	S>P		No	ClinGen ExAC gnomAD
rs781516523 CA8622109	434	S>Y		No	ClinGen ExAC gnomAD
rs11491191 CA8622108	435	S>F		No	ClinGen ExAC gnomAD
rs79107865 CA291216874	436	I>V		No	ClinGen Ensembl
CA8622107 rs747403186	440	G>E		No	ClinGen ExAC gnomAD
CA400026711 rs1466332748	440	G>R		No	ClinGen gnomAD
CA291216870 rs200226011	441	K>E		No	ClinGen TOPMed
rs1477491610 CA400026689	442	I>T		No	ClinGen gnomAD
rs778228926 CA8622106	442	I>V		No	ClinGen ExAC TOPMed gnomAD
CA291216861 rs79929872	443	S>A		No	ClinGen Ensembl
rs77510601 CA291216848	444	T>A		No	ClinGen Ensembl
CA400026664 rs1195966844	445	I>V		No	ClinGen TOPMed gnomAD
CA8622105 rs75580209	446	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA400026627 rs1182712312	449	I>V		No	ClinGen gnomAD
rs76334365 CA291216841	451	A>V		No	ClinGen Ensembl
CA8622102 rs755685863	453	N>S		No	ClinGen ExAC gnomAD
rs746941225 CA291216830	457	A>T		No	ClinGen TOPMed gnomAD
rs780612060 CA8622081	460	E>D		No	ClinGen ExAC gnomAD
rs745396630 CA8622082	460	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1445737596 CA400026484	461	G>V		No	ClinGen gnomAD
CA291216764 rs201720462 CA291216762	463	M>L		No	ClinGen Ensembl
CA400026474 rs1365432652	463	M>T		No	ClinGen TOPMed
CA8622080 rs756754152	464	S>N		No	ClinGen ExAC TOPMed gnomAD
rs751273226 CA8622079	467	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8622078 rs763715703	467	R>H		No	ClinGen ExAC gnomAD
CA8622077 rs758254039	468	E>*		No	ClinGen ExAC gnomAD
rs74496366 CA8622074	469	M>K		No	ClinGen ExAC gnomAD
CA8622075 rs74496366	469	M>R		No	ClinGen ExAC gnomAD
rs74496366 CA8622076	469	M>T		No	ClinGen ExAC gnomAD
rs1027908780 CA291216743	470	G>R		No	ClinGen TOPMed
TCGA novel	470	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400026376 rs1362311702	472	G>A		No	ClinGen gnomAD
rs760813902 CA8622071	474	L>V		No	ClinGen ExAC TOPMed gnomAD
CA400026335 rs199779693 CA291216724	476	L>F		No	ClinGen gnomAD
rs1192300467 CA400026325	477	C>Y		No	ClinGen gnomAD
rs62077261 CA8622069	480	N>H		No	ClinGen ExAC gnomAD
rs796538886 CA291216712	481	C>G		No	ClinGen Ensembl
rs555462910 CA291216711	484	A>T		No	ClinGen Ensembl
rs1489200335 CA400026230	484	A>V		No	ClinGen gnomAD
rs1283418426 CA400026228	485	I>L		No	ClinGen gnomAD
rs1283418426 CA400026226	485	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	486	N>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400026212 rs1239060598	486	N>H		No	ClinGen gnomAD
CA291216705 rs796737563	486	N>S		No	ClinGen Ensembl
CA400026198 rs140737545	487	I>L		No	ClinGen ExAC TOPMed gnomAD
rs75894512 CA8622066	487	I>T		No	ClinGen ExAC gnomAD
rs140737545 CA8622067	487	I>V		No	ClinGen ExAC TOPMed gnomAD
CA400026170 rs1260355124	489	S>I		No	ClinGen gnomAD
COSM4130222 rs79487913 CA291216693 COSM4130221	492	P>A	thyroid [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1598445944 CA400026091	494	H>R		No	ClinGen Ensembl
CA291216677 COSM1521346 rs76995821 COSM1521347	496	Y>C	lung thyroid Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs202052665 VAR_014489 CA291216681	496	Y>H		No	ClinGen UniProt Ensembl dbSNP
rs1164221714 CA400026036	497	N>S		No	ClinGen TOPMed
rs746492486 CA8622060	501	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777434535 CA8622059	504	Q>K		No	ClinGen ExAC gnomAD
CA291216663 rs796685691	505	I>N		No	ClinGen TOPMed gnomAD
CA400025920 rs796685691	505	I>T		No	ClinGen TOPMed gnomAD
rs757942944 CA8622058	505	I>V		No	ClinGen ExAC TOPMed gnomAD
CA291216656 rs200940073	508	A>V		No	ClinGen gnomAD
rs80029043 COSM349353 COSM349352 CA291216653	510	F>C	lung cervix [Cosmic]	No	ClinGen cosmic curated Ensembl
COSM436751 rs79201963 CA291216651 COSM436752	511	E>K	thyroid Variant assessed as Somatic; impact. breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs752553427 CA8622057	513	S>*		No	ClinGen ExAC gnomAD
rs75729335 CA291216641	515	Y>S		No	ClinGen Ensembl
rs754801062 CA8622055	516	M>I		No	ClinGen ExAC gnomAD
rs778508192 CA8622056	516	M>L		No	ClinGen ExAC TOPMed gnomAD
rs201336226 CA291216632	516	M>T		No	ClinGen TOPMed
rs893552593 CA291216631	517	Q>K		No	ClinGen Ensembl
rs866846731 CA291215275	520	R>G		No	ClinGen Ensembl
rs201607934 CA291215263	521	I>K		No	ClinGen Ensembl
rs199927167 CA291215265	521	I>L		No	ClinGen Ensembl
CA400025562 rs1465667749	523	S>L		No	ClinGen gnomAD
CA8622041 rs770247096	525	V>A		No	ClinGen ExAC
rs1421091413 CA400025537	527	R>K		No	ClinGen gnomAD
CA400025533 CA400025534 rs1161085615	527	R>S		No	ClinGen gnomAD
rs746545405 CA8622040	528	I>T		No	ClinGen ExAC TOPMed gnomAD
CA291215243 rs961087020	531	Y>C		No	ClinGen TOPMed gnomAD
rs539804101 CA8622039	531	Y>H		No	ClinGen ExAC gnomAD
CA400025508 rs961087020	531	Y>S		No	ClinGen TOPMed gnomAD
rs1237472834 CA400025502	532	R>K		No	ClinGen TOPMed gnomAD
rs139005122 CA8622036	534	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8622037 rs747825154	534	E>K		No	ClinGen ExAC gnomAD
rs1227902336 CA400025485	535	G>S		No	ClinGen gnomAD
rs1324716180 CA400025479	536	M>L		No	ClinGen gnomAD
CA400025436 rs1598436856	541	T>I		No	ClinGen Ensembl
CA400025439 rs1315364758	541	T>S		No	ClinGen TOPMed
CA291215201 rs1029738985	542	T>A		No	ClinGen TOPMed
rs780158747 CA8622033	543	L>F		No	ClinGen ExAC gnomAD
rs1598436831 CA400025426	543	L>R		No	ClinGen Ensembl
CA400025424 rs1598436807	544	W>R		No	ClinGen Ensembl
TCGA novel	546	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA291215179 rs76836152	546	L>P		No	ClinGen Ensembl
rs77891297 CA291215165	547	Q>P		No	ClinGen Ensembl
CA291215164 rs111227623 CA8622030 COSM41553	549	D>E	lung ovary thyroid large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8622029 rs199626169	550	V>G		No	ClinGen ExAC gnomAD
CA400025382 rs1304359168	550	V>I		No	ClinGen TOPMed
CA400025375 rs1318391757	551	A>S		No	ClinGen TOPMed
rs751777383 CA8622028	551	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8622026 rs763340610	554	V>F		No	ClinGen ExAC TOPMed gnomAD
CA400025360 rs763340610	554	V>I		No	ClinGen ExAC TOPMed gnomAD
CA400025343 rs1459044736	557	K>E		No	ClinGen gnomAD
rs62075657 CA291215111 COSM4130208 COSM4130207	559	L>F	thyroid [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1452297447 COSM1293679 CA400025306 COSM1293680	562	M>L	cervix [Cosmic]	No	ClinGen cosmic curated gnomAD
CA291215108 rs1012912945	562	M>T		No	ClinGen Ensembl
rs1452297447 CA400025308	562	M>V		No	ClinGen gnomAD
TCGA novel	564	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770302536 CA8622024	565	N>I		No	ClinGen ExAC gnomAD
rs1238314971 COSM288645 CA400025272 COSM288646	566	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA400025270 rs1568386706	567	P>A		No	ClinGen Ensembl
CA291215075 rs74885171	568	E>A		No	ClinGen Ensembl
CA8621985 rs199588106	569	A>P		No	ClinGen ExAC
rs1598432259 CA626684609	569	A>T		No	ClinGen Ensembl
rs749015475 CA8621983	570	W>*		No	ClinGen ExAC gnomAD
CA400025143 rs749015475	570	W>C		No	ClinGen ExAC gnomAD
CA8621981 rs769759034	573	A>S		No	ClinGen ExAC gnomAD
rs1175261305 CA400025105	574	G>E		No	ClinGen gnomAD
rs201293466 CA8621978	575	N>D		No	ClinGen ExAC gnomAD
rs1276455648 CA400025093	575	N>S		No	ClinGen TOPMed
CA8621977 rs62075623	578	S>C		No	ClinGen ExAC gnomAD
COSM4130206 COSM4130205 rs62075623 CA291214010	578	S>G	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs200907637 CA8621976	578	S>T		No	ClinGen ExAC gnomAD
rs1188555432 CA400025047	579	L>Q		No	ClinGen gnomAD
CA8621973 rs765426042	580	Q>*		No	ClinGen ExAC gnomAD
CA8621972 rs755364658	580	Q>H		No	ClinGen ExAC gnomAD
CA400025037 rs1211370035	580	Q>R		No	ClinGen gnomAD
CA400025026 rs1216224989	581	R>Q		No	ClinGen gnomAD
CA8621971 rs74390782	581	R>W	Variant assessed as Somatic; 0.4223 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA400025021 rs1568384353	582	E>Q		No	ClinGen Ensembl
rs1278429471 CA400025008	583	H>D		No	ClinGen gnomAD
rs1383626562 CA400025003	583	H>R		No	ClinGen gnomAD
rs763754940 CA8621967	586	A>V		No	ClinGen ExAC gnomAD
CA291213942 rs62075620 COSM4130201 COSM4130202	588	K>Q	thyroid [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1598431869 CA400024942	588	K>R		No	ClinGen Ensembl
rs1408250167 COSM289660 COSM289661 CA400024924	589	F>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA8621965 rs775321736	593	A>T		No	ClinGen ExAC gnomAD
COSM4130197 COSM4130198 rs796265930 CA291213936	594	I>L	thyroid [Cosmic]	No	ClinGen cosmic curated TOPMed
CA400024852 rs796265930	594	I>V		No	ClinGen TOPMed
COSM4130196 CA291213931 COSM4130195 rs796969472	595	Q>E	thyroid [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1598431751 CA400024785	597	D>V		No	ClinGen Ensembl
CA291213896 rs200200993	599	N>D		No	ClinGen TOPMed
COSM4130194 CA291213894 rs148087250 COSM4130193	600	Y>D	thyroid [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1182837352 CA400024702	601	A>D		No	ClinGen gnomAD
CA8621959 rs534711882	601	A>P		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	601	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777678685 CA8621958	602	Y>F		No	ClinGen ExAC gnomAD
CA8621957 rs75637741	603	A>V		No	ClinGen ExAC gnomAD
CA8621956 COSM22070 rs748198995	604	Y>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA400024621 rs1184254965	605	T>A		No	ClinGen TOPMed
rs796359371 CA291213850	605	T>S		No	ClinGen Ensembl
rs1568383899 CA919851215	605	T>SA		No	ClinGen Ensembl
rs796561781 CA400024608	606	L>I		No	ClinGen Ensembl
CA291213833 rs796427812	606	L>P		No	ClinGen Ensembl
CA291213835 rs796561781	606	L>V		No	ClinGen Ensembl
COSM980368 CA400024589 COSM980369 rs1172181934	607	L>S	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs79260965 CA291213815	609	H>N		No	ClinGen Ensembl
rs75661039 CA8621953	609	H>Q		No	ClinGen ExAC gnomAD
rs76926116 CA8621954	609	H>R		No	ClinGen ExAC gnomAD
rs112627286 CA291213787	611	F>L		No	ClinGen Ensembl
COSM4130187 COSM4130188 rs79285536 CA291213782	613	L>F	thyroid [Cosmic]	No	ClinGen cosmic curated Ensembl
CA400024426 rs1228643540	614	T>I		No	ClinGen gnomAD
rs780531497 CA8621952	616	E>V		No	ClinGen ExAC gnomAD
rs768104637 CA8621949	618	D>E		No	ClinGen ExAC gnomAD
CA8621950 rs750988492	618	D>N		No	ClinGen ExAC gnomAD
CA8621948 rs762582140	620	A>V		No	ClinGen ExAC gnomAD
CA291213729 rs78525224	623	C>S		No	ClinGen gnomAD
rs77685276 CA8621946	625	R>*	Variant assessed as Somatic; 0.4826 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA400024212 rs1415264709	625	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA291213716 rs796677508	627	A>V		No	ClinGen Ensembl
CA8621944 rs776145016	628	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	628	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1378929700 CA400024165	629	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA400024137 rs933945673	631	N>S		No	ClinGen gnomAD
CA291213686 rs933945673	631	N>T		No	ClinGen gnomAD
rs770820672 CA8621943	632	P>H		No	ClinGen ExAC gnomAD
CA400024127 rs1165289759	632	P>S		No	ClinGen TOPMed
rs1487241772 CA400024105	634	H>P		No	ClinGen gnomAD
rs1555785774 CA400024107	634	H>Y		No	ClinGen Ensembl
rs1361322406 CA626684604	635	Y>*		No	ClinGen gnomAD
rs62075618 CA8621940	635	Y>C		No	ClinGen ExAC gnomAD
CA8621941 rs773176432	635	Y>N		No	ClinGen ExAC gnomAD
CA291213640 rs62075617	636	N>K		No	ClinGen gnomAD
CA400024070 rs1598431027	637	A>G		No	ClinGen Ensembl
CA8621937 rs768610426	638	W>*		No	ClinGen ExAC gnomAD
CA8621900 rs763898842	638	W>C		No	ClinGen ExAC gnomAD
CA8621938 rs768610426	638	W>L		No	ClinGen ExAC gnomAD
CA8621939 rs74348171	638	W>R		No	ClinGen ExAC gnomAD
CA400022815 rs1325342954	639	Y>C		No	ClinGen TOPMed
CA400022784 rs1465982091	643	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA400022779 rs1376527977	644	I>T		No	ClinGen gnomAD
TCGA novel	645	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8621897 rs770060146	651	F>L		No	ClinGen ExAC gnomAD
CA400022670 rs1192566066	652	S>G		No	ClinGen gnomAD
CA8621895 CA8621896 rs199808134	656	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400022619 rs1401510722	656	M>V		No	ClinGen gnomAD
TCGA novel	661	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8621894 rs374412743	662	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA400022521 rs1344245315	663	D>A		No	ClinGen gnomAD
rs1344245315 CA400022523	663	D>G		No	ClinGen gnomAD
rs778379794 CA8621892	664	I>V		No	ClinGen ExAC gnomAD
CA400022498 rs1308636234	665	N>H		No	ClinGen TOPMed
rs748832141 CA8621890	665	N>S		No	ClinGen ExAC TOPMed gnomAD
rs779492361 CA8621889	667	Q>E		No	ClinGen ExAC gnomAD
rs371455344 CA400022355	676	G>*		No	ClinGen ESP ExAC gnomAD
CA8621886 rs371455344	676	G>R		No	ClinGen ESP ExAC gnomAD
CA400021654 rs1443765957	680	H>R		No	ClinGen gnomAD
CA400021641 rs1385703798	681	A>T		No	ClinGen gnomAD
rs1439685774 CA400021576	684	K>N		No	ClinGen gnomAD
CA400021585 rs1205271579	684	K>R		No	ClinGen gnomAD
rs1209543235 CA400021544	687	K>E		No	ClinGen gnomAD
rs1249008590 CA400021442	694	K>N		No	ClinGen TOPMed
rs1317632438 CA400021413	696	I>V		No	ClinGen gnomAD
CA400021377 rs1481024846	698	I>V		No	ClinGen TOPMed
CA400021318 rs1238553519	701	K>R		No	ClinGen gnomAD
CA400021288 rs1420758490	703	P>A		No	ClinGen TOPMed
rs759723257 CA8621860	706	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	707	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1442268775 CA400021167	709	R>K		No	ClinGen gnomAD
TCGA novel	710	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8621858 rs766725312	711	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761041557 CA8621857	712	V>L		No	ClinGen ExAC TOPMed gnomAD
CA400021045 rs1365900515	715	A>V		No	ClinGen gnomAD
rs1423097241 CA400020104	728	E>K		No	ClinGen gnomAD
rs754909214 CA8621841	731	Q>H		No	ClinGen ExAC gnomAD
CA400020065 rs1271285553	733	V>I		No	ClinGen gnomAD
CA8621839 rs766619286	739	V>I		No	ClinGen ExAC TOPMed gnomAD
rs750648328 CA8621837	742	L>S		No	ClinGen ExAC gnomAD
rs1216080541 CA400019966	746	V>I		No	ClinGen gnomAD
rs1182411008 CA400019948	748	K>R		No	ClinGen TOPMed
rs372774440 CA8621815	753	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	754	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8621811 rs765736331 COSM1736556 COSM1736557	756	A>T	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1422429789 CA400019839	764	M>V		No	ClinGen gnomAD
rs1173226383 CA400019794	770	G>R		No	ClinGen TOPMed
TCGA novel	771	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400019778 rs1184689364	772	N>S		No	ClinGen gnomAD
rs1447003741 CA400019744	776	K>N		No	ClinGen gnomAD
TCGA novel	780	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400019707 rs1357811907	781	K>N		No	ClinGen TOPMed
rs1244405583 CA400019710	781	K>R		No	ClinGen gnomAD
rs1450587391 CA400019703	782	R>H		No	ClinGen TOPMed
CA400019676 rs1193542607	786	D>G		No	ClinGen gnomAD
CA400019647 rs1251509365	790	P>A		No	ClinGen gnomAD
rs747905668 CA8621807	790	P>Q		No	ClinGen ExAC gnomAD
rs1373168938 CA400019642	791	I>V		No	ClinGen TOPMed
rs774120940 CA8621806	792	T>I		No	ClinGen ExAC TOPMed gnomAD
CA400019632 rs774120940	792	T>S		No	ClinGen ExAC TOPMed gnomAD
CA8621805 rs768608998	793	Q>E		No	ClinGen ExAC gnomAD
CA400019626 rs1246559608	793	Q>H		No	ClinGen gnomAD
CA400019618 rs1384946552	794	E>D		No	ClinGen TOPMed gnomAD
CA291201545 rs868034017	795	E>G		No	ClinGen Ensembl
CA400019614 rs1307043243	795	E>K		No	ClinGen TOPMed gnomAD
rs749048626 CA8621804	796	Q>H		No	ClinGen ExAC gnomAD
CA291201539 rs1007550308	797	I>F		No	ClinGen Ensembl
CA400019565 rs1454772767	800	T>I		No	ClinGen gnomAD
CA400019560 rs1195955496	801	D>G		No	ClinGen TOPMed
CA400019528 rs1243139641	805	E>D		No	ClinGen TOPMed
CA8621781 rs370828137	808	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1199782233 CA400019501	809	T>A		No	ClinGen gnomAD
rs1050018408 CA291200546	809	T>I		No	ClinGen TOPMed
rs771084076 CA8621780	810	D>G		No	ClinGen ExAC gnomAD
rs1412092641 CA400019497	810	D>N		No	ClinGen gnomAD
rs141358574 CA291200522	811	A>G		No	ClinGen 1000Genomes ESP gnomAD
rs777995806 CA8621778	813	D>G		No	ClinGen ExAC gnomAD
TCGA novel	815	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400019440 rs1262465904	818	A>P		No	ClinGen gnomAD
CA8621776 rs753067072	823	E>*		No	ClinGen ExAC gnomAD
rs755289500 CA8621774	824	F>L		No	ClinGen ExAC gnomAD
rs779404886 CA8621775	824	F>S		No	ClinGen ExAC gnomAD

No associated diseases with P30260

1 regional properties for P30260

Type	Name	Position	InterPro Accession
domain	Integrase, catalytic core	262 - 480	IPR001584

Functions

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

8 GO annotations of cellular component

Name	Definition
anaphase-promoting complex	A ubiquitin ligase complex that degrades mitotic cyclins and anaphase inhibitory protein, thereby triggering sister chromatid separation and exit from mitosis. Substrate recognition by APC occurs through degradation signals, the most common of which is termed the Dbox degradation motif, originally discovered in cyclin B.
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
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.
mitotic spindle	A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules.
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.
spindle	The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.

1 GO annotations of molecular function

Name	Definition
protein phosphatase binding	Binding to a protein phosphatase.

8 GO annotations of biological process

Name	Definition
anaphase-promoting complex-dependent catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, with ubiquitin-protein ligation catalyzed by the anaphase-promoting complex, and mediated by the proteasome.
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.
metaphase/anaphase transition of mitotic cell cycle	The cell cycle process in which a cell progresses from metaphase to anaphase during mitosis, triggered by the activation of the anaphase promoting complex by Cdc20/Sleepy homolog which results in the degradation of Securin.
positive regulation of mitotic metaphase/anaphase transition	Any process that activates or increases the frequency, rate or extent of the cell cycle process in which a cell progresses from metaphase to anaphase during mitosis, triggered by the activation of the anaphase promoting complex by Cdc20/Sleepy homolog which results in the degradation of Securin.
protein K11-linked ubiquitination	A protein ubiquitination process in which ubiquitin monomers are attached to a protein, and then ubiquitin polymers are formed by linkages between lysine residues at position 11 of the ubiquitin monomers. K11-linked polyubiquitination targets the substrate protein for degradation. The anaphase-promoting complex promotes the degradation of mitotic regulators by assembling K11-linked polyubiquitin chains.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.
regulation of meiotic cell cycle	Any process that modulates the rate or extent of progression through the meiotic cell cycle.
regulation of mitotic cell cycle	Any process that modulates the rate or extent of progress through the mitotic cell cycle.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MTVLQEPVQA	AIWQALNHYA	YRDAVFLAER	LYAEVHSEEA	LFLLATCYYR	SGKAYKAYRL
70	80	90	100	110	120
LKGHSCTTPQ	CKYLLAKCCV	DLSKLAEGEQ	ILSGGVFNKQ	KSHDDIVTEF	GDSACFTLSL
130	140	150	160	170	180
LGHVYCKTDR	LAKGSECYQK	SLSLNPFLWS	PFESLCEIGE	KPDPDQTFKF	TSLQNFSNCL
190	200	210	220	230	240
PNSCTTQVPN	HSLSHRQPET	VLTETPQDTI	ELNRLNLESS	NSKYSLNTDS	SVSYIDSAVI
250	260	270	280	290	300
SPDTVPLGTG	TSILSKQVQN	KPKTGRSLLG	GPAALSPLTP	SFGILPLETP	SPGDGSYLQN
310	320	330	340	350	360
YTNTPPVIDV	PSTGAPSKKS	VARIGQTGTK	SVFSQSGNSR	EVTPILAQTQ	SSGPQTSTTP
370	380	390	400	410	420
QVLSPTITSP	PNALPRRSSR	LFTSDSSTTK	ENSKKLKMKF	PPKIPNRKTK	SKTNKGGITQ
430	440	450	460	470	480
PNINDSLEIT	KLDSSIISEG	KISTITPQIQ	AFNLQKAAAE	GLMSLLREMG	KGYLALCSYN
490	500	510	520	530	540
CKEAINILSH	LPSHHYNTGW	VLCQIGRAYF	ELSEYMQAER	IFSEVRRIEN	YRVEGMEIYS
550	560	570	580	590	600
TTLWHLQKDV	ALSVLSKDLT	DMDKNSPEAW	CAAGNCFSLQ	REHDIAIKFF	QRAIQVDPNY
610	620	630	640	650	660
AYAYTLLGHE	FVLTEELDKA	LACFRNAIRV	NPRHYNAWYG	LGMIYYKQEK	FSLAEMHFQK
670	680	690	700	710	720
ALDINPQSSV	LLCHIGVVQH	ALKKSEKALD	TLNKAIVIDP	KNPLCKFHRA	SVLFANEKYK
730	740	750	760	770	780
SALQELEELK	QIVPKESLVY	FLIGKVYKKL	GQTHLALMNF	SWAMDLDPKG	ANNQIKEAID
790	800	810	820
KRYLPDDEEP	ITQEEQIMGT	DESQESSMTD	ADDTQLHAAE	SDEF