AiPD: Autoinhibited Protein Database

O43663

Gene name	PRC1
Protein name	Protein regulator of cytokinesis 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9055
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

429-617 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

429-617 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

7 structures for O43663

Entry ID	Method	Resolution	Chain	Position	Source
3NRX	X-ray	175 A	A/B	341-466	PDB
3NRY	X-ray	200 A	A	341-466	PDB
4L3I	X-ray	360 A	A/B	1-486	PDB
4L6Y	X-ray	330 A	A/B	1-486	PDB
5KMG	EM	350 A	P	341-464	PDB
7VBG	NMR	-	A/B	1-65	PDB
AF-O43663-F1	Predicted				AlphaFoldDB

519 variants for O43663

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_047769 CA273806 RCV000162268 rs12911192	511	Y>C	Familial cancer of breast [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs773444703 CA7744455	4	S>G		No	ClinGen ExAC gnomAD
CA7744429 rs746816579	5	E>K		No	ClinGen ExAC gnomAD
CA393881990 rs746816579	5	E>Q		No	ClinGen ExAC gnomAD
rs1293570985 CA393881974	6	V>L		No	ClinGen gnomAD
rs570196720 COSM1708562 CA7744428	8	A>V	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA393881932 rs1238185458	9	E>D		No	ClinGen TOPMed gnomAD
CA7744426 rs747807559	10	E>*		No	ClinGen ExAC gnomAD
CA7744425 rs778336545	10	E>V		No	ClinGen ExAC gnomAD
rs1048239756 CA274793850	13	V>L		No	ClinGen Ensembl
CA393881872 rs1463500515	14	C>Y		No	ClinGen gnomAD
rs1212891875 CA393881814	19	L>V		No	ClinGen gnomAD
CA7744422 rs149781966	21	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA7744420 rs139670079	23	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7744421 rs374649597	23	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1190486359 CA393881708	27	E>K		No	ClinGen TOPMed
CA274793806 rs201712220	31	I>L		No	ClinGen 1000Genomes
rs781528912 CA393881629	33	E>D		No	ClinGen ExAC gnomAD
CA393881642 rs1481796787	33	E>Q		No	ClinGen gnomAD
rs757458006 CA7744418	36	R>Q		No	ClinGen ExAC gnomAD
rs1204997271 CA393881590	36	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA393881556 rs1162434807	38	Q>H		No	ClinGen TOPMed
TCGA novel	39	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7744417 rs751780992	41	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1340065741 CA393881494	43	V>G		No	ClinGen gnomAD
CA7744416 rs764185715	45	K>Q		No	ClinGen ExAC gnomAD
rs150693304 CA7744415	45	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758540098 CA7744396	50	L>R		No	ClinGen ExAC gnomAD
CA7744393 CA393881299 rs760746534	53	M>I		No	ClinGen ExAC gnomAD
rs765378152 CA7744394	53	M>T		No	ClinGen ExAC gnomAD
rs1333220685 CA393881306	53	M>V		No	ClinGen TOPMed
CA393881258 rs1197299864	59	E>Q		No	ClinGen TOPMed gnomAD
rs767316179 CA7744390	60	S>R		No	ClinGen ExAC gnomAD
rs773958817 CA7744388	69	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	70	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762586660 CA7744386	71	V>I		No	ClinGen ExAC gnomAD
CA393881058 rs1266381455	73	Q>R		No	ClinGen TOPMed
rs200573147 CA274793046	74	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1273013077 CA393881035	75	E>Q		No	ClinGen gnomAD
rs745330334 CA7744383	78	T>A		No	ClinGen ExAC TOPMed gnomAD
rs777202528 CA7744382	78	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs745330334 CA393880997	78	T>S		No	ClinGen ExAC TOPMed gnomAD
CA7744378 rs758688171	82	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1171403937 CA393880914	84	H>R		No	ClinGen gnomAD
rs1431813547 CA393880918	84	H>Y		No	ClinGen gnomAD
rs150916803 CA7744377	85	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393880880 rs985169924	87	P>A		No	ClinGen TOPMed
CA393880874 rs1373767967	87	P>L		No	ClinGen gnomAD
CA274792961 rs985169924	87	P>T		No	ClinGen TOPMed
CA7744376 rs779230400	88	F>L		No	ClinGen ExAC TOPMed gnomAD
rs201462675 CA274792946	89	Q>E		No	ClinGen Ensembl
rs747426369 CA274790971	90	E>Q		No	ClinGen gnomAD
rs774843027 CA7744340	91	E>G		No	ClinGen ExAC gnomAD
rs770340123	91	E>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1318483367 CA393879754	92	G>A		No	ClinGen TOPMed
COSM966632 CA393879727 rs1232552039	94	T>M	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs749435348 CA7744338	96	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	100	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393879666 rs1210228942	101	K>E		No	ClinGen TOPMed
CA393879643 rs1268305902	103	L>S		No	ClinGen TOPMed
CA7744337 COSM246761 rs780228383	104	R>C	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs558894857 CA7744336	104	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA393879630 rs1567197738	105	T>A		No	ClinGen Ensembl
rs1567197738 CA393879629	105	T>S		No	ClinGen Ensembl
CA274790936 rs1032485930	107	V>A		No	ClinGen gnomAD
CA7744334 rs200166514	107	V>L		No	ClinGen ExAC TOPMed gnomAD
CA393879578 rs1413964505	110	M>L		No	ClinGen gnomAD
rs967140254 CA274790911	110	M>T		No	ClinGen Ensembl
CA274790880 rs1020079549	111	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs142124129 CA7744332	111	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs754674872 CA393879534	114	K>I		No	ClinGen ExAC gnomAD
rs754674872 CA7744330	114	K>T		No	ClinGen ExAC gnomAD
CA7744329 rs753456205	116	E>D		No	ClinGen ExAC gnomAD
rs766016922 CA7744328	119	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs760109535 CA7744327	120	E>Q		No	ClinGen ExAC gnomAD
CA274790829 rs751384527	121	L>Q		No	ClinGen Ensembl
rs750484139 CA7744325	124	L>F		No	ClinGen ExAC gnomAD
CA7744324 rs768194650	126	E>K		No	ClinGen ExAC gnomAD
rs774896207 CA7744322	127	Q>H		No	ClinGen ExAC gnomAD
CA393879391 rs1596314555	128	D>A		No	ClinGen Ensembl
rs113935358 CA7744321	129	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1463330464 CA393879375	130	E>K		No	ClinGen TOPMed
CA274790797 rs373342939	131	L>V		No	ClinGen ESP TOPMed gnomAD
rs775603430 CA7744319	132	C>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1318728687 COSM3420722 CA393879346	133	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs996079947 CA274790727	134	I>F		No	ClinGen TOPMed gnomAD
TCGA novel	135	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393879311 rs1406457556	136	C>S		No	ClinGen gnomAD
rs200832721 CA274790726	137	M>V		No	ClinGen 1000Genomes
rs899097094 CA274790718	138	P>S		No	ClinGen Ensembl
CA274790725 rs899097094	138	P>T		No	ClinGen Ensembl
rs1431347904 CA393879279	139	H>Q		No	ClinGen gnomAD
CA7744316 rs781247941	139	H>R		No	ClinGen ExAC gnomAD
rs745996036 CA7744317	139	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs772041722 CA7744315	140	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1423907336 CA393879275	140	Y>H		No	ClinGen TOPMed gnomAD
CA393879249 rs1245834837	142	I>F		No	ClinGen gnomAD
rs778775059 CA7744313	142	I>T		No	ClinGen ExAC TOPMed gnomAD
CA7744312 rs754761543	144	S>C		No	ClinGen ExAC gnomAD
CA274790669 rs142416384	144	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142416384 CA393879228	144	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393879232 rs754761543	144	S>R		No	ClinGen ExAC gnomAD
CA7744311 rs142416384	144	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393879216 rs1243657514	145	A>G		No	ClinGen Ensembl
rs779584335 CA7744310	146	S>L		No	ClinGen ExAC TOPMed gnomAD
CA7744309 CA393879207 rs755777548	147	V>L		No	ClinGen ExAC gnomAD
CA7744308 rs749967607	149	S>N		No	ClinGen ExAC gnomAD
CA393879169 rs1367373552	151	E>Q		No	ClinGen gnomAD
TCGA novel	156	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs555279469 CA7744306	157	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1383321764 CA393879080	159	H>R		No	ClinGen gnomAD
CA393879073 rs1567197258	160	V>M		No	ClinGen Ensembl
rs1358530076 CA393879035	163	L>M		No	ClinGen gnomAD
CA393879015 rs1170995806	164	R>K		No	ClinGen gnomAD
CA393879001 rs1198085700	165	E>*		No	ClinGen gnomAD
rs1454548263 CA393878986	166	T>A		No	ClinGen gnomAD
rs137858168 CA7744303	166	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA393878965 rs1387781059	167	K>E		No	ClinGen gnomAD
TCGA novel	168	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs936919322 CA274790539	170	R>K		No	ClinGen Ensembl
CA7744291 COSM1375502 rs573547983	171	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs745492955 CA7744290	171	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7744289 rs549719996	173	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7744288 rs756855455	174	F>L		No	ClinGen ExAC TOPMed gnomAD
CA393878797 rs1596313991	174	F>S		No	ClinGen Ensembl
rs1596313971 CA393878696	180	Q>E		No	ClinGen Ensembl
rs1354770640 CA393878685	180	Q>P		No	ClinGen TOPMed
CA7744286 rs147013874	182	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1422438537 CA393878637	183	L>V		No	ClinGen gnomAD
rs753047247 CA7744284	184	C>Y		No	ClinGen ExAC gnomAD
rs765615758 CA7744283	185	M>V		No	ClinGen ExAC gnomAD
VAR_047768 rs7172758 CA7744282	187	A>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs7172758 CA393878546	187	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	188	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776869868 CA7744281	189	D>E		No	ClinGen ExAC TOPMed gnomAD
CA274790468 rs552291423	189	D>H		No	ClinGen Ensembl
CA393878517 rs1267465681	190	H>N		No	ClinGen gnomAD
rs766523382 CA7744280	190	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs760759808 CA7744279	191	T>N		No	ClinGen ExAC gnomAD
rs527463974 CA7744278	192	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767529834 CA274790384	194	T>A		No	ClinGen ExAC gnomAD
CA7744276 rs767529834	194	T>P		No	ClinGen ExAC gnomAD
rs1348587395 CA393878375	198	R>G		No	ClinGen gnomAD
rs1307280771 CA393878365	199	D>N		No	ClinGen gnomAD
rs1405039822 CA393878344	200	V>G		No	ClinGen gnomAD
CA7744275 rs775198089	201	V>L		No	ClinGen ExAC gnomAD
CA393878331 rs1453465320	202	C>G		No	ClinGen TOPMed
rs1360346954 CA393878307	204	D>Y		No	ClinGen TOPMed
rs967319547 CA274790324	205	E>K		No	ClinGen Ensembl
rs780992729 CA7744272	206	D>G		No	ClinGen ExAC TOPMed gnomAD
rs987185427 CA274790310	207	A>D		No	ClinGen Ensembl
rs1410420267 CA393878259	208	F>I		No	ClinGen gnomAD
rs1182007221 CA393878248	209	C>R		No	ClinGen gnomAD
CA274790303 rs373451090	209	C>S		No	ClinGen ESP
rs746587256 CA7744270	215	I>M		No	ClinGen ExAC TOPMed gnomAD
rs756910395 CA7744271	215	I>T		No	ClinGen ExAC gnomAD
CA7744269 rs777308869	216	A>G		No	ClinGen ExAC TOPMed gnomAD
CA7744267 rs753274625	219	Q>R		No	ClinGen ExAC gnomAD
rs765622193 CA7744266	222	L>I		No	ClinGen ExAC gnomAD
rs754145218 CA7744264	223	R>Q		No	ClinGen ExAC gnomAD
CA7744265 rs138904992	223	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393878077 rs1224041661	224	Q>*		No	ClinGen gnomAD
TCGA novel	226	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7744242 rs750676488	227	M>T		No	ClinGen ExAC TOPMed gnomAD
CA7744241 rs767594265	231	Q>E		No	ClinGen ExAC gnomAD
CA7744240 rs761956294	231	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA274789720 rs767594265	231	Q>K		No	ClinGen ExAC gnomAD
rs533610719 CA7744238	234	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1207206455 CA393877849	235	V>A		No	ClinGen Ensembl
CA7744237 rs759517630	235	V>M		No	ClinGen ExAC gnomAD
CA393877843 rs1449226556	236	C>Y		No	ClinGen gnomAD
CA393877812 rs1332842819	238	G>E		No	ClinGen gnomAD
CA7744235 rs776619186	240	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770872351 CA7744234	240	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7744233 rs760507368	241	T>I		No	ClinGen ExAC
rs1567196116 CA393877781	242	Q>*		No	ClinGen Ensembl
CA7744232 rs772926435	242	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	242	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149838434 CA7744231	243	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7744230 rs547936544	243	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	244	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778285093 CA7744229	244	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA393877738 rs1441893021	246	L>P		No	ClinGen TOPMed
CA393877745 rs1360298825	246	L>V		No	ClinGen TOPMed
CA393877730 rs1235510731	247	W>G		No	ClinGen gnomAD
rs769188156 CA7744228	247	W>S		No	ClinGen ExAC TOPMed gnomAD
CA7744227 rs749769477	248	D>N		No	ClinGen ExAC TOPMed gnomAD
CA393877642 rs1202440765	253	P>S		No	ClinGen gnomAD
CA274789601 rs200799126	255	E>K		No	ClinGen Ensembl
rs529948276 CA7744225	257	R>S		No	ClinGen 1000Genomes
rs767805068 CA274789585	258	E>G		No	ClinGen TOPMed gnomAD
CA7744224 rs780486994	259	A>V		No	ClinGen ExAC gnomAD
rs1342204213 CA393877485	264	M>L		No	ClinGen TOPMed
rs1283114881 CA393877455	266	G>A		No	ClinGen gnomAD
rs781489628 CA7744220	268	K>E		No	ClinGen ExAC gnomAD
CA393877426 rs1279210523	269	A>V		No	ClinGen TOPMed
rs151276157 CA7744219	270	K>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151276157 CA7744218	270	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7744217 rs764248316	271	V>A		No	ClinGen ExAC TOPMed gnomAD
CA7744216 rs142300202	272	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs149143720 CA7744214	272	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs142300202 CA7744215	272	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7744213 rs760535884	274	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7744190 rs763666334	276	Q>R		No	ClinGen ExAC gnomAD
rs762463247 CA7744189	277	L>S		No	ClinGen ExAC TOPMed gnomAD
CA393877272 rs1221033364	279	V>A		No	ClinGen gnomAD
CA393877264 rs1365490953	280	D>H		No	ClinGen gnomAD
rs866904342 CA393877253	281	R>G		No	ClinGen TOPMed gnomAD
rs146537637 CA7744187	281	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146537637 CA7744188	281	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs866904342 CA274788955	281	R>W		No	ClinGen TOPMed gnomAD
CA7744186 rs746327520	282	L>V		No	ClinGen ExAC gnomAD
CA7744185 rs777149257	283	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA393877223 rs1359693712	284	E>*		No	ClinGen gnomAD
rs747332606 CA7744183	286	K>E		No	ClinGen ExAC gnomAD
rs778155367 CA7744182	288	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA7744181 rs772414418	289	N>S		No	ClinGen ExAC gnomAD
CA7744180 rs748308546	290	M>L		No	ClinGen ExAC TOPMed gnomAD
CA7744179 rs779107977	290	M>T		No	ClinGen ExAC gnomAD
rs748308546 CA393877138	290	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1187094772 CA393877115	291	K>R		No	ClinGen gnomAD
CA393877100 rs1485715403	292	K>T		No	ClinGen TOPMed gnomAD
CA7744178 rs756128408	293	V>M		No	ClinGen ExAC gnomAD
rs1279670834 CA393877034	297	I>L		No	ClinGen TOPMed gnomAD
CA393877028 rs1314397735	297	I>T		No	ClinGen TOPMed
rs1279670834 CA393877036	297	I>V		No	ClinGen TOPMed gnomAD
rs1596310389 CA393877023	298	R>G		No	ClinGen Ensembl
TCGA novel	298	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373993897 CA7744177	298	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA393877016 rs1567194834	299	V>M		No	ClinGen Ensembl
rs1283190842 CA393876957	303	Q>P		No	ClinGen TOPMed
rs1381453135 CA393876934	305	W>R		No	ClinGen gnomAD
CA393876905 rs1217198474	307	Q>E		No	ClinGen TOPMed
rs1418858998 CA393876801	314	Q>P		No	ClinGen TOPMed gnomAD
CA7744174 rs751297607	316	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA393876750 rs1416219233	317	A>G		No	ClinGen TOPMed
rs763793248 CA7744173 COSM1708561	320	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA393876699 rs1567194719	321	F>S		No	ClinGen Ensembl
rs752242932 CA393876684	322	C>F		No	ClinGen ExAC gnomAD
CA7744172 rs201583559	322	C>S		No	ClinGen 1000Genomes ExAC gnomAD
rs752242932 CA7744171	322	C>Y		No	ClinGen ExAC gnomAD
rs1298097571 CA393876597	324	E>G		No	ClinGen TOPMed
rs377034634 CA7744150	325	D>G		No	ClinGen ESP ExAC gnomAD
rs758982517 CA7744149	326	Y>H		No	ClinGen ExAC gnomAD
rs766866331 CA7744147	328	E>G		No	ClinGen ExAC gnomAD
CA393876505 rs1596308151	331	L>F		No	ClinGen Ensembl
CA7744145 rs139775880	332	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7744143 rs146878209	333	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA393876479 rs1378912063	333	L>P		No	ClinGen TOPMed
rs146878209 CA393876484	333	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs774436902 CA7744142	335	D>N		No	ClinGen ExAC gnomAD
CA7744141 rs373875570	336	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	337	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7744139 rs749295437	338	I>T		No	ClinGen ExAC TOPMed gnomAD
rs749385936 CA7744140	338	I>V		No	ClinGen ExAC gnomAD
CA7744136 rs529515389	340	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA7744137 rs777958468	340	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1236611519 CA393876344	343	N>T		No	ClinGen TOPMed
TCGA novel	343	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747919894 CA7744133	344	Y>C		No	ClinGen ExAC gnomAD
CA7744132 rs778489462	345	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	346	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1181925959 CA393876298	346	E>V		No	ClinGen TOPMed
CA393876268 rs1245252731	348	H>Q		No	ClinGen TOPMed
CA393876257 rs1191977867	349	K>R		No	ClinGen gnomAD
CA393876237 rs1445279946	350	E>D		No	ClinGen TOPMed
rs1467909465 CA393876192	354	G>C		No	ClinGen gnomAD
CA274787720 rs960266235	355	V>I		No	ClinGen Ensembl
CA393876154 CA7744129 rs765893609	356	Q>H		No	ClinGen ExAC TOPMed
CA393876131 rs1348496991	358	W>G		No	ClinGen gnomAD
CA393876134 rs1348496991	358	W>R		No	ClinGen gnomAD
rs1233360615 CA393876054	363	R>M		No	ClinGen gnomAD
rs750995429 COSM3420720 CA393876018	368	F>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs750995429 CA7744127	368	F>S		No	ClinGen ExAC TOPMed gnomAD
rs764495738 CA7744106	370	R>G		No	ClinGen ExAC gnomAD
rs1475900856 CA393874911	373	S>P		No	ClinGen gnomAD
CA393874905 rs1349458247	374	D>H		No	ClinGen TOPMed
rs763177444 CA7744105	375	P>T		No	ClinGen ExAC gnomAD
CA393874892 rs1420916014	376	N>D		No	ClinGen gnomAD
CA7744104 rs775786949	377	R>Q		No	ClinGen ExAC gnomAD
rs574886074 CA7744103	381	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7744101 rs776689189	381	R>Q		No	ClinGen ExAC gnomAD
rs772041694 CA7744100	382	G>R		No	ClinGen ExAC gnomAD
rs774109778 CA7744098	384	N>D		No	ClinGen ExAC gnomAD
rs878879331 CA274785064	386	L>I		No	ClinGen Ensembl
rs1474343212 CA393874824	387	K>R		No	ClinGen gnomAD
rs201488822 CA7744097	389	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA274785060 rs867717245	392	R>*		No	ClinGen TOPMed gnomAD
CA393874789 rs867717245	392	R>G		No	ClinGen TOPMed gnomAD
CA393874787 rs1567189853	392	R>Q		No	ClinGen Ensembl
CA7744096 rs143841711	395	L>P		No	ClinGen ESP ExAC gnomAD
rs1218330316 CA393874763	396	Q>R		No	ClinGen TOPMed gnomAD
rs1255257210 CA393874746	398	M>R		No	ClinGen gnomAD
rs1215205016 CA393874749	398	M>V		No	ClinGen TOPMed
CA393874731 rs1209543626	400	P>L		No	ClinGen gnomAD
CA7744095 rs779863654	401	K>R		No	ClinGen ExAC gnomAD
rs780627277 CA274783279	403	E>A		No	ClinGen Ensembl
rs746447818 CA7744072	405	E>Q		No	ClinGen ExAC gnomAD
rs549267890 CA7744068	409	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549267890 CA7744069	409	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531286450 CA7744067	409	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393874349 rs1596295571	410	I>F		No	ClinGen Ensembl
CA7744066 rs554587791	410	I>T		No	ClinGen ExAC TOPMed gnomAD
CA393874334 rs1311451482	412	L>S		No	ClinGen TOPMed
CA274783232 rs202171347	415	Q>E		No	ClinGen TOPMed
rs1596295511 CA393874309	415	Q>R		No	ClinGen Ensembl
rs760818954 CA7744063	416	E>K		No	ClinGen ExAC gnomAD
rs1200546477 CA393874285	417	H>Y		No	ClinGen gnomAD
CA393874239 rs1277948706	420	A>P		No	ClinGen TOPMed
CA7744060 rs139840373	420	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA393874204 rs1330451796	422	M>I		No	ClinGen TOPMed gnomAD
rs1213665490 CA393874207	422	M>T		No	ClinGen gnomAD
rs759364501 CA7744057	425	G>E		No	ClinGen ExAC TOPMed gnomAD
CA7744058 rs143665955	425	G>R		No	ClinGen 1000Genomes ExAC TOPMed
CA7744056 rs776427115	428	F>L		No	ClinGen ExAC gnomAD
rs1176873868 CA393874124	428	F>S		No	ClinGen TOPMed
rs150537199 CA7744055	429	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1443348098 CA393874107	429	M>T		No	ClinGen gnomAD
rs1435487474 CA393874070	431	Y>*		No	ClinGen gnomAD
rs542771806 CA7744054	431	Y>D		No	ClinGen ExAC gnomAD
rs564511547 CA393874055	433	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs564511547 CA7744052	433	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7744051 rs564511547	433	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779354443 CA7744050	435	Q>K		No	ClinGen ExAC gnomAD
CA7744049 rs755344493	435	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA393874026 rs755344493	435	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs749599890 CA7744048	436	W>R		No	ClinGen ExAC TOPMed gnomAD
CA393873995 rs1407660436	437	E>G		No	ClinGen TOPMed
CA7744047 rs780378183	438	M>I		No	ClinGen ExAC TOPMed gnomAD
rs971027590 CA274783137	438	M>T		No	ClinGen TOPMed gnomAD
CA393873959 rs1193419544	439	H>Q		No	ClinGen gnomAD
rs1440138784 CA393873969	439	H>Y		No	ClinGen TOPMed
rs756281995 CA7744046	440	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7744045 rs750554170	440	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7744043 rs757361379	443	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs752713552 CA7744042	443	K>R		No	ClinGen ExAC gnomAD
CA393873899 rs1346024775	444	E>G		No	ClinGen gnomAD
CA393873906 rs1236531633	444	E>K		No	ClinGen gnomAD
CA274783071 rs112930314	447	K>E		No	ClinGen Ensembl
rs1287104662 CA393873857	447	K>N		No	ClinGen gnomAD
rs776286656 CA7744039	447	K>R		No	ClinGen ExAC gnomAD
rs776286656 CA7744040	447	K>T		No	ClinGen ExAC gnomAD
rs1020383736 CA274783067	450	R>G		No	ClinGen TOPMed
rs373377878 CA7744011	454	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA393873774 rs1322098319	455	K>R		No	ClinGen gnomAD
rs776013759 CA7744010	456	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1231355293	457	Q>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1354130569 CA393873724	458	T>I		No	ClinGen TOPMed
CA393873726 rs1354130569	458	T>R		No	ClinGen TOPMed
rs1230007406 CA393873685	461	E>G		No	ClinGen TOPMed
rs770084357 CA393873656 CA7744005	462	M>I		No	ClinGen ExAC TOPMed gnomAD
CA7744003 rs746177034	463	L>P		No	ClinGen ExAC TOPMed gnomAD
CA393873644 rs746177034	463	L>R		No	ClinGen ExAC TOPMed gnomAD
CA7744001 rs200697807 CA393873630	464	Y>*		No	ClinGen ExAC gnomAD
CA7744002 rs781283733	464	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA274782416 rs892654894	464	Y>H		No	ClinGen TOPMed
CA7743999 rs189808257	467	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758504917 CA7743998	469	R>*		No	ClinGen ExAC TOPMed gnomAD
CA393873571 rs141668295	469	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141668295 COSM276882 CA7743997	469	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs372671624 CA393873511	475	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs372671624 CA7743996	475	R>G		No	ClinGen ExAC gnomAD
CA274782364 rs537527179	475	R>L		No	ClinGen 1000Genomes gnomAD
rs537527179 CA274782369	475	R>Q		No	ClinGen 1000Genomes gnomAD
rs200154749 CA274782350	476	G>E		No	ClinGen TOPMed gnomAD
rs200154749 CA393873496	476	G>V		No	ClinGen TOPMed gnomAD
CA7743994 rs569918488	478	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1567185404 CA393873467	479	P>T		No	ClinGen Ensembl
rs761419673 CA274782305	480	N>K		No	ClinGen ExAC TOPMed gnomAD
rs373743742 CA7743993	480	N>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1234725723 CA393873411	481	T>I		No	ClinGen gnomAD
rs369605877 CA7743991	482	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369605877 CA393873398	482	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs201848723 CA7743988	483	G>D		No	ClinGen ExAC
rs770278643 CA7743987	484	K>E		No	ClinGen ExAC TOPMed gnomAD
CA7743986 rs759874634	486	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7743985 rs566031143	486	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7743984 rs566031143	486	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA274782270 rs1031261825	487	K>E		No	ClinGen Ensembl
CA393873289 rs769755548	487	K>N		No	ClinGen TOPMed
CA7743963 rs772329055	490	T>S		No	ClinGen ExAC gnomAD
rs748246659 CA7743962	491	T>I		No	ClinGen ExAC gnomAD
TCGA novel	492	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769663841 CA7743960	493	M>V		No	ClinGen ExAC gnomAD
CA7743958 rs781065511	495	N>S		No	ClinGen ExAC gnomAD
CA7743957 rs757048609	496	A>T		No	ClinGen ExAC gnomAD
rs777459882 CA7743955	497	T>K		No	ClinGen ExAC TOPMed gnomAD
CA7743956 rs777459882	497	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA393872811 rs1311347341	498	A>V		No	ClinGen gnomAD
rs752198964 CA7743953	499	N>S		No	ClinGen ExAC TOPMed gnomAD
CA393872792 rs1233753339	501	S>N		No	ClinGen TOPMed
CA393872786 rs1287672765	502	I>V		No	ClinGen TOPMed
rs200964554 CA7743951	503	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA7743950 rs754402323	503	R>Q		No	ClinGen ExAC gnomAD
rs200964554 CA7743952	503	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs766937060 CA7743949	504	P>H		No	ClinGen ExAC gnomAD
CA393872775 rs766937060	504	P>L		No	ClinGen ExAC gnomAD
rs1372437001 CA393872772	505	I>F		No	ClinGen gnomAD
CA393872771 rs1372437001	505	I>L		No	ClinGen gnomAD
CA393872770 rs1188566059	505	I>N		No	ClinGen gnomAD
rs1188566059 CA393872769	505	I>T		No	ClinGen gnomAD
rs1372437001 CA393872773	505	I>V		No	ClinGen gnomAD
CA7743948 COSM36743 rs267604387	507	G>E	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7743947 rs773710897	508	G>E		No	ClinGen ExAC gnomAD
rs1186552800 CA393872745	509	T>I		No	ClinGen TOPMed gnomAD
CA393872741 rs1274601312	510	V>L		No	ClinGen TOPMed gnomAD
rs1180144034 CA393872714	514	P>S		No	ClinGen gnomAD
rs774383748 CA7743945	515	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7743944 rs768808438 COSM174794	517	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs201630358 CA393872697	517	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7743943 rs201630358	517	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7743942 rs776560679	518	L>F		No	ClinGen ExAC gnomAD
rs138971118 CA274775447	518	L>R		No	ClinGen ESP TOPMed gnomAD
CA7743941 rs770840120	520	P>L		No	ClinGen ExAC TOPMed gnomAD
rs186606915 CA274775417	521	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs770986326 CA274775423	521	S>P		No	ClinGen gnomAD
CA7743940 rs146069935	523	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7743939 rs777602206	524	K>E		No	ClinGen ExAC gnomAD
CA393872642 rs1315643116	525	P>S		No	ClinGen gnomAD
CA393872634 rs1418503161	526	V>F		No	ClinGen gnomAD
rs751855673 CA393872630	527	A>P		No	ClinGen ExAC TOPMed gnomAD
rs751855673 CA7743906	527	A>T		No	ClinGen ExAC TOPMed gnomAD
rs764442752 CA7743905	528	A>D		No	ClinGen ExAC gnomAD
CA7743903 rs752823537	530	T>P		No	ClinGen ExAC gnomAD
CA274774544 rs964457804	530	T>S		No	ClinGen TOPMed gnomAD
rs765332130 CA393872607	531	C>F		No	ClinGen ExAC TOPMed gnomAD
rs765332130 CA7743902	531	C>S		No	ClinGen ExAC TOPMed gnomAD
rs765332130 CA393872606	531	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA393872590 rs1281378946	534	K>E		No	ClinGen gnomAD
CA393872585 rs1474921290	534	K>N		No	ClinGen gnomAD
rs1213256454 CA393872587	534	K>R		No	ClinGen gnomAD
rs1345521910 CA393872582	535	K>E		No	ClinGen TOPMed gnomAD
CA7743900 rs773216668	537	P>S		No	ClinGen ExAC gnomAD
rs761737564 CA7743898	538	R>C		No	ClinGen ExAC TOPMed gnomAD
rs761737564 CA7743899	538	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7743897 rs773989359	538	R>H		No	ClinGen ExAC TOPMed gnomAD
CA393872558 rs768476538	539	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7743896 rs768476538	539	T>N		No	ClinGen ExAC TOPMed gnomAD
rs779808677 CA393872542	542	H>D		No	ClinGen ExAC gnomAD
rs1476775843 CA393872540	542	H>R		No	ClinGen TOPMed gnomAD
rs779808677 CA7743894	542	H>Y		No	ClinGen ExAC gnomAD
rs769430477 CA7743893	543	G>R		No	ClinGen ExAC gnomAD
rs745311247 CA7743892	544	A>T		No	ClinGen ExAC gnomAD
rs993393274 CA393872519	545	N>K		No	ClinGen TOPMed
rs781750492 CA7743891	546	K>R		No	ClinGen ExAC gnomAD
TCGA novel	547	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393872507 rs1175813540	547	E>G		No	ClinGen gnomAD
rs1596273795 CA393872497	548	N>K		No	ClinGen Ensembl
CA7743890 rs757699492	549	L>P		No	ClinGen ExAC gnomAD
rs1192107612 CA393872490	550	E>Q		No	ClinGen gnomAD
CA274774449 rs960551098	552	N>S		No	ClinGen TOPMed gnomAD
CA7743887 rs758722256	553	G>S		No	ClinGen ExAC gnomAD
CA7743886 rs752921792	554	S>N		No	ClinGen ExAC gnomAD
rs1204967382 CA393872457	555	I>V		No	ClinGen gnomAD
COSM1323759 rs201777744 CA7743885	558	G>C	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1270869135 CA393872419	560	Y>*		No	ClinGen gnomAD
rs1002708250 CA274774427	560	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1596273653 CA393872422	560	Y>D		No	ClinGen Ensembl
CA7743882 rs767534190	563	S>L		No	ClinGen ExAC TOPMed gnomAD
rs376085606 CA7743880	564	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA393872392 rs1567178785	565	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA393872388 rs762766233	566	L>F		No	ClinGen ExAC TOPMed gnomAD
CA7743877 rs146571257	566	L>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA393872389 rs762766233	566	L>I		No	ClinGen ExAC TOPMed gnomAD
CA7743876 rs146571257	566	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs762766233 CA7743878	566	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7743875 rs145664899	567	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA393872383 rs145664899	567	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA393872382 rs145664899	567	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs775971570 CA7743874	568	R>C		No	ClinGen ExAC gnomAD
CA393872379 rs775971570	568	R>G		No	ClinGen ExAC gnomAD
CA7743873 rs200736815 COSM1221861	568	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1596273447 CA393872374	569	N>D		No	ClinGen Ensembl
TCGA novel	569	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7743871 rs778186655	570	F>V		No	ClinGen ExAC
CA274774318 rs867176786	571	S>R		No	ClinGen TOPMed
rs1167212396 CA393872352	572	I>V		No	ClinGen gnomAD
rs370462277 CA7743870	575	V>F		No	ClinGen ESP ExAC gnomAD
CA7743869 rs748501400	576	A>P		No	ClinGen ExAC gnomAD
CA393872308 rs1334896487	578	T>A		No	ClinGen gnomAD
rs377324152 CA7743868	580	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs377324152 CA393872278	580	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs373811756 CA7743866	583	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1454586824 CA393872140	585	D>N		No	ClinGen gnomAD
rs535089776 CA7743843	586	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7743842 rs535089776	586	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	586	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1432543564 CA393872093	587	S>F		No	ClinGen gnomAD
rs1187769543 CA393872040	591	S>C		No	ClinGen TOPMed gnomAD
rs1487020507 CA393872033	591	S>R		No	ClinGen gnomAD
CA393872036 rs1311475650	591	S>T		No	ClinGen TOPMed
CA274774011 rs1048819290	592	S>F		No	ClinGen TOPMed
CA7743838 rs752589323	593	T>I		No	ClinGen ExAC gnomAD
CA7743836 rs759336173	594	V>A		No	ClinGen ExAC gnomAD
CA7743837 rs368941220	594	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs374678092 CA7743835	596	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7743811 rs750026250	598	R>*		No	ClinGen ExAC gnomAD
rs146881444 CA7743810	598	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1567175843 CA393871463	599	E>G		No	ClinGen Ensembl
rs1366409926 CA393871469	599	E>Q		No	ClinGen gnomAD
rs761242329 CA7743809	602	K>E		No	ClinGen ExAC gnomAD
CA393871402 rs1567175823	603	A>P		No	ClinGen Ensembl
rs774738348 CA7743808	603	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1445816085 CA393871382	604	S>C		No	ClinGen TOPMed
rs1049620517 CA274771942	605	K>T		No	ClinGen TOPMed gnomAD
rs763297582 CA7743806	609	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7743805 rs775895312	609	T>I		No	ClinGen ExAC gnomAD
rs770191686 CA7743804	610	S>A		No	ClinGen ExAC
rs746116778 CA7743802	610	S>F		No	ClinGen ExAC gnomAD
rs936231154 CA274771873	611	G>R		No	ClinGen Ensembl
CA7743801 rs142433081	612	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7743800 rs771139858	613	L>F		No	ClinGen ExAC gnomAD
rs1399543346 CA393871249	613	L>R		No	ClinGen gnomAD
rs1326479679 CA393871240	614	N>S		No	ClinGen gnomAD
rs1470320752 CA393871174	619	Q>*		No	ClinGen gnomAD
CA393871165 rs148776661	619	Q>H		No	ClinGen ESP TOPMed gnomAD
CA7743797 rs778781996	619	Q>R		No	ClinGen ExAC gnomAD
CA393871143 rs1238163915	621	S>G		No	ClinGen gnomAD
CA7743794 rs774482342	621	S>R		No	ClinGen ExAC gnomAD

No associated diseases with O43663

No regional properties for O43663

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for O43663

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm Cytoplasm, cytoskeleton, spindle pole Midbody Chromosome	Colocalized with KIF20B in the nucleus of bladder carcinoma cells at the interphase Colocalized with KIF20B in bladder carcinoma cells at prophase, metaphase, early anaphase, at the midzone in late anaphase and at the contractile ring in telophase (PubMed:17409436) Predominantly localized to the nucleus of interphase cells During mitosis becomes associated with the mitotic spindle poles and localizes with the cell midbody during cytokinesis Co-localizes with PRC1 in early mitosis and at the spindle midzone from anaphase B to telophase (PubMed:15297875, PubMed:15625105)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

14 GO annotations of cellular component

Name	Definition
chromosome	A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
contractile ring	A cytoskeletal structure composed of filamentous protein that forms beneath the membrane of many cells or organelles, in the plane of cell or organelle division. Ring contraction is associated with centripetal growth of the membrane that divides the cytoplasm of the two daughter cells or organelles.
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.
intercellular bridge	A direct connection between the cytoplasm of two cells that is formed following the completion of cleavage furrow ingression during cell division. They are usually present only briefly prior to completion of cytokinesis. However, in some cases, such as the bridges between germ cells during their development, they become stabilised.
microtubule cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins.
midbody	A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
mitotic spindle midzone	The area in the center of the anaphase spindle consisting of microtubules, microtubule bundling factors and kinesin motors where the spindle microtubules from opposite poles overlap in an antiparallel manner.
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.
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.
spindle microtubule	Any microtubule that is part of a mitotic or meiotic spindle; anchored at one spindle pole.
spindle pole	Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules.

4 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.
kinesin binding	Interacting selectively and non-covalently and stoichiometrically with kinesin, a member of a superfamily of microtubule-based motor proteins that perform force-generating tasks such as organelle transport and chromosome segregation.
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.

7 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.
microtubule bundle formation	A process that results in a parallel arrangement of microtubules.
microtubule cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.
mitotic spindle elongation	The cell cycle process in which the distance is lengthened between poles of the mitotic spindle. Mitotic spindle elongation begins during mitotic prophase and ends during mitotic anaphase B.
mitotic spindle midzone assembly	The cell cycle process in which the aggregation, arrangement and bonding together of a set of components forms the spindle midzone.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
regulation of cytokinesis	Any process that modulates the frequency, rate or extent of the division of the cytoplasm of a cell and its separation into two daughter cells.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P50275	ASE1	Anaphase spindle elongation protein	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q9ZVJ3	MAP65-5	65-kDa microtubule-associated protein 5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FLP0	MAP65-1	65-kDa microtubule-associated protein 1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MRRSEVLAEE	SIVCLQKALN	HLREIWELIG	IPEDQRLQRT	EVVKKHIKEL	LDMMIAEEES
70	80	90	100	110	120
LKERLIKSIS	VCQKELNTLC	SELHVEPFQE	EGETTILQLE	KDLRTQVELM	RKQKKERKQE
130	140	150	160	170	180
LKLLQEQDQE	LCEILCMPHY	DIDSASVPSL	EELNQFRQHV	TTLRETKASR	REEFVSIKRQ
190	200	210	220	230	240
IILCMEALDH	TPDTSFERDV	VCEDEDAFCL	SLENIATLQK	LLRQLEMQKS	QNEAVCEGLR
250	260	270	280	290	300
TQIRELWDRL	QIPEEEREAV	ATIMSGSKAK	VRKALQLEVD	RLEELKMQNM	KKVIEAIRVE
310	320	330	340	350	360
LVQYWDQCFY	SQEQRQAFAP	FCAEDYTESL	LQLHDAEIVR	LKNYYEVHKE	LFEGVQKWEE
370	380	390	400	410	420
TWRLFLEFER	KASDPNRFTN	RGGNLLKEEK	QRAKLQKMLP	KLEEELKARI	ELWEQEHSKA
430	440	450	460	470	480
FMVNGQKFME	YVAEQWEMHR	LEKERAKQER	QLKNKKQTET	EMLYGSAPRT	PSKRRGLAPN
490	500	510	520	530	540
TPGKARKLNT	TTMSNATANS	SIRPIFGGTV	YHSPVSRLPP	SGSKPVAAST	CSGKKTPRTG
550	560	570	580	590	600
RHGANKENLE	LNGSILSGGY	PGSAPLQRNF	SINSVASTYS	EFAKDPSLSD	SSTVGLQREL
610
SKASKSDATS	GILNSTNIQS