AiPD: Autoinhibited Protein Database

Q9ULW0

Gene name	TPX2 (C20orf1, C20orf2, DIL2, HCA519)
Protein name	Targeting protein for Xklp2
Names	Differentially expressed in cancerous and non-cancerous lung cells 2, DIL-2, Hepatocellular carcinoma-associated antigen 519, Hepatocellular carcinoma-associated antigen 90, Protein fls353, Restricted expression proliferation-associated protein 100, p100
Species	Homo sapiens (Human)
KEGG Pathway	hsa:22974
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

10-747 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

10-747 (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

14 structures for Q9ULW0

Entry ID	Method	Resolution	Chain	Position	Source
1OL5	X-ray	250 A	B	1-43	PDB
3E5A	X-ray	230 A	B	1-43	PDB
3HA6	X-ray	236 A	B	1-43	PDB
4C3P	X-ray	269 A	B/E	1-43	PDB
5LXM	X-ray	208 A	D	6-43	PDB
6BJC	EM	330 A	P/T	1-747	PDB
6VPG	X-ray	264 A	A	7-21	PDB
6VPH	X-ray	214 A	A	7-21	PDB
6VPI	X-ray	200 A	A	7-21	PDB
6VPJ	X-ray	210 A	A	7-21	PDB
6VPL	X-ray	186 A	A/B	7-21	PDB
6VPM	X-ray	158 A	A/B	7-21	PDB
6XKA	X-ray	265 A	A	7-21	PDB
AF-Q9ULW0-F1	Predicted				AlphaFoldDB

564 variants for Q9ULW0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	3	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408513593 rs1265888711	4	V>L		No	ClinGen TOPMed
rs1266436637 CA408513605	5	K>N		No	ClinGen gnomAD
rs767128472 CA9802162	6	S>R		No	ClinGen ExAC TOPMed
CA9802163 rs750038906	7	S>A		No	ClinGen ExAC gnomAD
rs755358916 CA9802164	7	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA408513634 rs1568923565	10	Y>C		No	ClinGen Ensembl
CA313835673 rs1054375549	10	Y>H		No	ClinGen TOPMed
rs779190965 CA9802165	12	A>V		No	ClinGen ExAC gnomAD
CA408513656 rs1468842848	13	P>R		No	ClinGen gnomAD
rs781554900 CA9802166	14	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs375834277 CA9802168	17	I>M		No	ClinGen ESP ExAC gnomAD
CA408513685 rs1235393844	18	N>H		No	ClinGen gnomAD
CA408513689 rs1257604668	18	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA408513687 rs1235393844	18	N>Y		No	ClinGen gnomAD
rs1368078386 CA408513706	20	S>L		No	ClinGen gnomAD
CA408513710 rs1405898707	21	S>C		No	ClinGen TOPMed gnomAD
CA408513718 rs1486331470	22	L>F		No	ClinGen gnomAD
rs1235189026 CA408513725	23	D>V		No	ClinGen TOPMed
rs1329073564 CA408513744	26	G>R		No	ClinGen TOPMed
CA9802171 rs771317705	31	I>M		No	ClinGen ExAC gnomAD
CA9802170 rs747036382	31	I>V		No	ClinGen ExAC gnomAD
CA408513817 rs1568923640	36	E>Q		No	ClinGen Ensembl
CA408514548 rs1337221468	37	E>G		No	ClinGen gnomAD
CA408514560 rs1258917817	39	A>T		No	ClinGen gnomAD
CA9802191 rs746089590	40	N>S		No	ClinGen ExAC gnomAD
rs1327514198 CA408514593	43	N>K		No	ClinGen TOPMed gnomAD
CA9802192 rs770130439	43	N>T		No	ClinGen ExAC TOPMed gnomAD
rs962928510 CA313835954	44	K>Q		No	ClinGen TOPMed
rs1036671171 CA313835955	48	K>T		No	ClinGen TOPMed
CA408514638 rs1424834293	50	G>E		No	ClinGen gnomAD
rs1245071834 CA408514637	50	G>R		No	ClinGen gnomAD
CA9802193 rs775408777	52	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749008811 CA9802195	53	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9802194 rs749008811	53	G>W		No	ClinGen ExAC TOPMed gnomAD
rs774179380 CA9802196 COSM3405003	54	L>P	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	56	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9802197 rs201478518	57	G>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	58	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408514699 rs772705258	60	P>H		No	ClinGen ExAC gnomAD
rs772705258 CA9802199	60	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs760377744 CA9802200	61	L>W		No	ClinGen ExAC TOPMed gnomAD
rs765993309 CA9802201	63	K>N		No	ClinGen ExAC gnomAD
CA408514721 rs1341809591	64	A>T		No	ClinGen gnomAD
rs763256856 CA9802203	67	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1229306292 CA408514748	68	Q>K		No	ClinGen gnomAD
CA313835956 rs764095227	70	I>T		No	ClinGen TOPMed
CA9802204 rs764467380	70	I>V		No	ClinGen ExAC gnomAD
CA408514777 rs1323044090	72	T>I		No	ClinGen gnomAD
rs757768356 CA9802206	73	P>R		No	ClinGen ExAC gnomAD
rs752019175 CA9802205	73	P>T		No	ClinGen ExAC TOPMed gnomAD
CA408514802 rs1260223568	76	P>Q		No	ClinGen gnomAD
CA313835957 rs201087567	76	P>T		No	ClinGen 1000Genomes gnomAD
CA408514803 rs1430860114	77	V>I		No	ClinGen gnomAD
CA408514916 rs1361565195	78	D>Y		No	ClinGen gnomAD
CA9802227 rs780125003	79	N>D		No	ClinGen ExAC TOPMed gnomAD
rs141337190 CA9802228	79	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9802229 rs141337190	79	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9802230 rs778632538	81	Y>C		No	ClinGen ExAC gnomAD
CA9802231 rs533421508	82	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9802232 rs772037607	83	K>N		No	ClinGen ExAC gnomAD
rs777717444 CA9802233	85	A>E		No	ClinGen ExAC gnomAD
rs777717444 CA9802234	85	A>G		No	ClinGen ExAC gnomAD
rs1368516243 CA408514964	85	A>T		No	ClinGen gnomAD
rs770358109 CA9802235	90	L>R		No	ClinGen ExAC gnomAD
rs776138328 CA9802236	91	V>L		No	ClinGen ExAC gnomAD
CA408515008 rs759173065	92	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9802237 rs759173065	92	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs267605873 CA313836731	94	S>F		No	ClinGen Ensembl
rs767947159 CA9802241	95	I>S		No	ClinGen ExAC gnomAD
rs762304589 CA9802240	95	I>V		No	ClinGen ExAC gnomAD
CA9802242 rs773872282	96	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	99	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377128140 CA9802245	99	A>V		No	ClinGen ESP ExAC gnomAD
CA313836732 rs1034707719	100	C>R		No	ClinGen gnomAD
CA408515061 rs1384513080	100	C>S		No	ClinGen gnomAD
CA408515060 rs1384513080	100	C>Y		No	ClinGen gnomAD
CA9802246 rs755205786	101	S>F		No	ClinGen ExAC gnomAD
rs1356681956 CA408515074	102	S>F		No	ClinGen TOPMed
CA9802248 rs752876722	103	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1600371026 CA408515080	104	E>Q		No	ClinGen Ensembl
CA9802250 rs777484745	106	E>*		No	ClinGen ExAC
rs746950380 CA9802251	106	E>G		No	ClinGen ExAC gnomAD
CA9802253 rs780621059	107	A>P		No	ClinGen ExAC gnomAD
rs780621059 CA408515100	107	A>T		No	ClinGen ExAC gnomAD
rs745355855 CA9802255	108	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9802256 rs769150205	109	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9802257 rs775307419	110	S>A		No	ClinGen ExAC gnomAD
CA408515137 rs1290964102	113	T>N		No	ClinGen gnomAD
CA9802259 rs772571154	113	T>S		No	ClinGen ExAC gnomAD
rs868445320 CA313836733	116	Q>*		No	ClinGen Ensembl
CA9802261 rs761145457	116	Q>H		No	ClinGen ExAC gnomAD
rs1172057934 CA408515161	117	P>H		No	ClinGen TOPMed gnomAD
rs549580722 CA9802263	118	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA9802281 rs771159163	122	L>R		No	ClinGen ExAC gnomAD
rs777214825 CA9802282	126	A>V		No	ClinGen ExAC TOPMed gnomAD
CA313837171 rs1009803487	127	Q>R		No	ClinGen gnomAD
rs1175958600 CA408516086	131	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	132	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408516127 rs1427543760	133	K>N		No	ClinGen gnomAD
CA313837172 rs1040825984	136	H>R		No	ClinGen gnomAD
rs769867284 CA9802284	136	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA408516177 rs1429281377	137	H>Y		No	ClinGen gnomAD
CA408516193 rs1457339499	138	V>L		No	ClinGen TOPMed
CA408516259 rs1364998345	142	A>V		No	ClinGen TOPMed
rs1223343953 CA408516262	143	K>Q		No	ClinGen gnomAD
CA9802287 rs764276147	144	R>I		No	ClinGen ExAC gnomAD
CA9802288 rs764276147	144	R>K		No	ClinGen ExAC gnomAD
CA408516300 rs1254896995	145	C>Y		No	ClinGen TOPMed gnomAD
rs200971961 CA313837173	147	T>I		No	ClinGen 1000Genomes
CA408516360 rs1342493126	149	V>G		No	ClinGen gnomAD
CA408516365 rs1350695085	150	I>N		No	ClinGen gnomAD
rs761692754 CA9802289	150	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1194655877 CA408516406	152	D>E		No	ClinGen TOPMed
TCGA novel	152	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1251719181 CA408516444	155	L>P		No	ClinGen TOPMed
rs142491998 CA9802291	155	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1488491666 CA408516456	156	P>L		No	ClinGen TOPMed gnomAD
CA9802293 rs779769517	156	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1262555878 CA408516462	157	S>C		No	ClinGen TOPMed
CA408516476 rs1245177322	159	K>I		No	ClinGen gnomAD
rs754719090 CA9802295	160	M>I		No	ClinGen ExAC gnomAD
rs753377765 CA9802294	160	M>T		No	ClinGen ExAC gnomAD
CA408516487 rs1237241898	161	K>E		No	ClinGen TOPMed
CA9802313 rs753788071	163	S>P		No	ClinGen ExAC gnomAD
rs778226175 CA9802315	165	N>D		No	ClinGen ExAC gnomAD
CA408516524 rs778226175	165	N>H		No	ClinGen ExAC gnomAD
CA9802316 rs752398176	166	K>E		No	ClinGen ExAC gnomAD
rs781661858 CA9802318	169	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	170	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1424613527 COSM1533079 CA408516560	170	E>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA9802319 rs755866577	173	G>V		No	ClinGen ExAC gnomAD
rs1393342712 CA408516592	174	S>T		No	ClinGen gnomAD
CA9802321 rs780566978	176	H>L		No	ClinGen ExAC gnomAD
CA9802320 rs770322956	176	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs768731936 CA9802323	178	D>E		No	ClinGen ExAC gnomAD
CA9802322 rs749740782	178	D>V		No	ClinGen ExAC gnomAD
rs1382328614 CA408516643	182	K>E		No	ClinGen TOPMed
CA9802324 rs774293862	183	N>S		No	ClinGen ExAC TOPMed gnomAD
CA9802325 rs748462046	184	A>G		No	ClinGen ExAC gnomAD
rs773102010 CA9802327	187	P>L		No	ClinGen ExAC TOPMed gnomAD
CA313837289 rs998122578	187	P>S		No	ClinGen Ensembl
CA9802329 rs766225836	193	R>G		No	ClinGen ExAC gnomAD
TCGA novel	193	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368452660 CA9802330	194	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA9802331 rs759479021	195	T>I		No	ClinGen ExAC gnomAD
CA9802333 rs752131749	201	P>S		No	ClinGen ExAC TOPMed gnomAD
rs758114936 CA9802334	202	A>T		No	ClinGen ExAC gnomAD
rs762398409 CA9802355	204	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	205	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1288150407 CA408517171	210	T>I		No	ClinGen TOPMed
rs1405899732 CA408517183	212	E>A		No	ClinGen TOPMed
CA408517193 rs1286436768	213	Q>R		No	ClinGen gnomAD
rs1404208165 CA408517200	214	E>G		No	ClinGen gnomAD
CA9802357 rs751220317	218	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1338128301 CA408517232	219	M>L		No	ClinGen gnomAD
rs1220305779 CA408517304	222	Q>*		No	ClinGen gnomAD
rs766791195 CA9802359	223	Q>E		No	ClinGen ExAC gnomAD
CA408517355 rs550119037	224	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA9802360 rs550119037	224	E>G		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	225	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779320269 CA9802362	229	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs145341306 CA9802361	229	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1261730411 CA408517476	230	K>E		No	ClinGen TOPMed gnomAD
rs1261730411 CA408517474	230	K>Q		No	ClinGen TOPMed gnomAD
CA408517479 rs1411464929	230	K>R		No	ClinGen TOPMed
CA408517600 rs758419607	235	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	236	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9802365 rs777931788	236	K>R		No	ClinGen ExAC gnomAD
rs747300918 CA9802366	237	K>E		No	ClinGen ExAC gnomAD
CA9802367 rs771264707	238	L>F		No	ClinGen ExAC TOPMed gnomAD
CA9802368 rs781177225	238	L>R		No	ClinGen ExAC TOPMed gnomAD
CA408517680 rs1420996453	239	A>V		No	ClinGen gnomAD
CA408517694 rs1466152382	241	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs745616280 CA9802369	242	G>E		No	ClinGen ExAC TOPMed gnomAD
CA313837717 rs370204520	243	I>V		No	ClinGen Ensembl
rs996119272 CA313837718	244	G>R		No	ClinGen Ensembl
rs752069805 CA9802401	245	Q>K		No	ClinGen ExAC gnomAD
rs757432742 CA9802402	246	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1441403847 CA408518005	248	K>N		No	ClinGen gnomAD
CA313837897 rs559524892	251	V>G		No	ClinGen Ensembl
rs1413065835 CA408518028	252	S>N		No	ClinGen gnomAD
CA408518033 rs1166719110	253	Q>K		No	ClinGen gnomAD
rs151257770 CA9802404	253	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9802405 rs756349140	254	V>A		No	ClinGen ExAC gnomAD
CA408518040 rs1278409271	254	V>I		No	ClinGen TOPMed
CA408518063 rs1568594304	257	S>L		No	ClinGen Ensembl
CA9802407 rs528639233	258	V>I		No	ClinGen ExAC TOPMed gnomAD
rs754728260 CA9802408	261	H>Y		No	ClinGen ExAC gnomAD
CA408518103 rs1377684353	263	R>C		No	ClinGen TOPMed gnomAD
rs527354467 CA9802409	263	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs748023101 CA313837899	264	T>K		No	ClinGen ExAC gnomAD
CA9802410 rs748023101	264	T>R		No	ClinGen ExAC gnomAD
rs1243753554 CA408518122	266	E>A		No	ClinGen gnomAD
rs771577736 CA9802411	266	E>Q		No	ClinGen ExAC
rs141564051 CA9802413	267	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs141564051 CA9802414	267	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA313837900 rs995792780	270	Q>K		No	ClinGen TOPMed
rs775758625 CA9802416	270	Q>R		No	ClinGen ExAC gnomAD
CA313837901 rs764501401	272	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9802418 rs764501401	272	P>R		No	ClinGen ExAC TOPMed gnomAD
CA9802417 rs372666044	272	P>T		No	ClinGen ESP ExAC gnomAD
CA313837903 rs945148751	275	Q>R		No	ClinGen Ensembl
rs201973506 CA9802421	276	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA9802424 rs756335100	277	E>A		No	ClinGen ExAC gnomAD
CA9802422 rs145335902	277	E>K		No	ClinGen ESP ExAC gnomAD
CA9802423 rs756335100	277	E>V		No	ClinGen ExAC gnomAD
CA408518199 rs1162702706	278	Y>C		No	ClinGen TOPMed
rs147694982 CA9802426	279	K>E		No	ClinGen ESP ExAC gnomAD
CA9802427 rs147694982	279	K>Q		No	ClinGen ESP ExAC gnomAD
rs758317739 CA9802429	284	T>K		No	ClinGen ExAC TOPMed gnomAD
CA9802430 rs777197121	288	R>G		No	ClinGen ExAC gnomAD
CA408518265 rs746496077	288	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9802431 rs746496077 COSM1410964	288	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9802432 rs770302830	289	K>T		No	ClinGen ExAC gnomAD
CA408518274 rs776364959	290	H>D		No	ClinGen ExAC TOPMed gnomAD
CA408518276 rs1486830014	290	H>R		No	ClinGen TOPMed
rs776364959 CA9802433	290	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA408518280 rs1251175929	291	P>S		No	ClinGen gnomAD
rs377047771 CA9802434	292	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	294	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	296	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA313839658 rs775218455	296	R>Q		No	ClinGen Ensembl
rs1287896750 CA408518549	297	V>E		No	ClinGen gnomAD
CA408518546 rs1214124465	297	V>M		No	ClinGen gnomAD
CA9802454 rs748555617	298	T>I		No	ClinGen ExAC gnomAD
CA313839665 rs762573458	299	K>E		No	ClinGen gnomAD
CA9802456 rs773787163	300	G>E		No	ClinGen ExAC gnomAD
rs1568595726 COSM1193790 CA408518572	301	C>Y	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1380174075 CA408518581	302	T>I		No	ClinGen TOPMed gnomAD
CA408518579 rs1380174075	302	T>N		No	ClinGen TOPMed gnomAD
CA408518583 rs1418442746	303	I>V		No	ClinGen gnomAD
CA313839673 rs998127706	304	V>F		No	ClinGen TOPMed
CA9802457 rs761024564	305	K>E		No	ClinGen ExAC gnomAD
CA9802459 rs776677105	308	N>I		No	ClinGen ExAC TOPMed gnomAD
rs565058479 CA9802460	308	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA408518618 rs776677105	308	N>S		No	ClinGen ExAC TOPMed gnomAD
CA313839685 rs938323248	311	Q>E		No	ClinGen TOPMed
CA408518640 rs1303542048	312	G>R		No	ClinGen gnomAD
CA408518649 rs1568595841	313	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs547598598 CA9802463	314	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1311443640 CA408518660	315	R>G		No	ClinGen gnomAD
CA9802464 rs763738869	315	R>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1051433931 CA313839692	316	T>I		No	ClinGen TOPMed
rs889664730 CA313839695	318	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9802466 rs757135903	319	E>D		No	ClinGen ExAC gnomAD
CA9802468 rs117528644	323	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373949740 CA9802469	323	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408518761 rs779875849	324	Y>C		No	ClinGen ExAC gnomAD
CA9802470 rs779875849	324	Y>F		No	ClinGen ExAC gnomAD
CA408518768 rs1161848033	325	V>A		No	ClinGen gnomAD
CA408518766 rs1472658671	325	V>M		No	ClinGen gnomAD
CA313839699 rs1016742194	330	Q>P		No	ClinGen Ensembl
CA9802472 rs772494085	331	V>I		No	ClinGen ExAC gnomAD
rs376115422 CA9802473	333	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA9802474 rs370777481	333	D>E		No	ClinGen ESP ExAC gnomAD
rs771316970 CA9802475	336	K>R		No	ClinGen ExAC gnomAD
COSM3389665 CA9802476 rs776728395	337	R>*	pancreas Variant assessed as Somatic; 4.649e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA408518846 rs1333249667	337	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA408518860 rs1419891512	339	P>L		No	ClinGen TOPMed
CA408518857 rs1243733782	339	P>S		No	ClinGen gnomAD
CA408518888 rs1304552386	343	H>R		No	ClinGen TOPMed gnomAD
rs201500640 CA9802479	344	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	345	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA313839713 rs993891389	346	S>R		No	ClinGen Ensembl
CA313839712 rs1043259419	346	S>T		No	ClinGen TOPMed
CA408518919 rs1395298113	348	K>Q		No	ClinGen gnomAD
CA9802481 rs375432267	349	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA408518938 rs1456499751	350	D>V		No	ClinGen gnomAD
rs150150899 CA9802509	352	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs753268261 CA9802510	355	P>T		No	ClinGen ExAC gnomAD
rs993407279 CA313840595	356	S>P		No	ClinGen Ensembl
rs1372311072 CA408519441	357	K>I		No	ClinGen gnomAD
CA408519443 rs1372311072	357	K>R		No	ClinGen gnomAD
rs1240090266 CA408519452	358	S>P		No	ClinGen gnomAD
CA408519495 rs1247585835	362	K>Q		No	ClinGen TOPMed
rs764826825 CA9802512	362	K>R		No	ClinGen ExAC TOPMed gnomAD
rs752342592 CA9802513	364	C>F		No	ClinGen ExAC gnomAD
TCGA novel	367	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9802514 rs148370055	369	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1207482734 CA408519581	369	T>I		No	ClinGen TOPMed gnomAD
CA313840612 rs548359952	371	V>A		No	ClinGen Ensembl
CA9802515 rs781469578	371	V>I		No	ClinGen ExAC gnomAD
CA313840615 rs986549354	372	L>M		No	ClinGen TOPMed
rs796869960 CA313840619	372	L>Q		No	ClinGen Ensembl
CA408519665 rs1354201425	376	H>Q		No	ClinGen TOPMed
CA408519660 rs1460635572	376	H>R		No	ClinGen TOPMed
CA9802516 rs201467940	376	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA9802517 rs138585308	377	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408519670 rs1420642546	377	R>H		No	ClinGen gnomAD
rs780228798 CA9802518	378	A>V		No	ClinGen ExAC gnomAD
rs768734508 CA9802520	379	R>Q		No	ClinGen ExAC gnomAD
rs764950702 CA9802519	379	R>W		No	ClinGen ExAC TOPMed gnomAD
rs774451087 CA9802521	381	V>G		No	ClinGen ExAC gnomAD
rs935998072 CA313840625	382	T>S		No	ClinGen Ensembl
CA313840627 rs1038420884	383	C>Y		No	ClinGen TOPMed gnomAD
CA408519741 rs1329899869	384	K>N		No	ClinGen gnomAD
rs748335606 CA9802522	384	K>R		No	ClinGen ExAC TOPMed gnomAD
CA408519745 TCGA novel rs1600385099	385	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs891715940 CA313840634	387	A>V		No	ClinGen Ensembl
CA408519780 rs1376234204	388	E>Q		No	ClinGen gnomAD
rs772063777 CA9802523	392	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1320694432 CA408519823	394	L>F		No	ClinGen gnomAD
rs140553865 CA9802526	395	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408519852 rs1236230181	398	Q>P		No	ClinGen gnomAD
CA9802527 rs776588241	399	Q>R		No	ClinGen ExAC gnomAD
CA9802547 rs759446875	405	R>C		No	ClinGen ExAC gnomAD
rs771897999 CA9802548	405	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	407	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9802550 rs762641961	408	D>H		No	ClinGen ExAC gnomAD
CA408519935 rs762641961	408	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9802551 rs763703354	409	P>L		No	ClinGen ExAC gnomAD
TCGA novel	410	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9802552 rs555677641	411	I>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	411	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761043851 CA9802553	412	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1268098350 CA408519963	412	L>H		No	ClinGen gnomAD
rs1210395552 CA408519964	413	E>K		No	ClinGen TOPMed
CA313841111 rs202112546	414	G>S		No	ClinGen 1000Genomes TOPMed
CA408519974 rs1287341920	414	G>V		No	ClinGen TOPMed
rs1223813368 CA408519979	415	G>R		No	ClinGen TOPMed
rs766700201 CA9802554	416	P>T		No	ClinGen ExAC gnomAD
rs143594885 CA408519988	417	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143594885 CA9802555	417	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs946267317 CA313841115	419	P>R		No	ClinGen TOPMed
CA408520018 rs1349840604	421	K>T		No	ClinGen TOPMed
CA408520033 rs1345654123	423	P>L		No	ClinGen gnomAD
CA9802558 rs752795638	426	P>L		No	ClinGen ExAC gnomAD
CA9802557 rs778912781	426	P>S		No	ClinGen ExAC TOPMed gnomAD
rs778912781 CA408520048	426	P>T		No	ClinGen ExAC TOPMed gnomAD
CA9802559 rs758515254	427	P>A		No	ClinGen ExAC gnomAD
rs1475776747 CA408520066	429	E>G		No	ClinGen gnomAD
CA9802561 rs747166089	429	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA408520072 rs1190700004	430	P>S		No	ClinGen TOPMed gnomAD
CA9802562 rs770633805	431	I>V		No	ClinGen ExAC TOPMed gnomAD
rs781036351 CA9802563	432	G>D		No	ClinGen ExAC gnomAD
rs1427329268 CA408520094	433	F>L		No	ClinGen TOPMed
CA9802564 rs745851412	434	D>A		No	ClinGen ExAC gnomAD
rs748820511 COSM1230208 CA9802568	438	E>D	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9802570 rs773997795	440	R>S		No	ClinGen ExAC gnomAD
CA408520162 rs1438898910	443	E>Q		No	ClinGen gnomAD
CA408520170 rs1236430461	444	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1304127407 CA408520185	446	S>L		No	ClinGen gnomAD
rs997623573 CA313841156	446	S>T		No	ClinGen Ensembl
rs1352716423 CA408520193	447	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs777036685 CA9802573	448	K>R		No	ClinGen ExAC gnomAD
TCGA novel	451	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760003376 CA9802574	452	D>N		No	ClinGen ExAC gnomAD
CA9802576 rs753204241	453	E>G		No	ClinGen ExAC gnomAD
CA9802575 rs142374319	453	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs758562393 CA9802577	454	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA408520248 rs1290800624	455	F>C		No	ClinGen TOPMed gnomAD
CA9802578 rs61752050	459	S>F		No	ClinGen ExAC gnomAD
CA9802579 rs61752050	459	S>Y		No	ClinGen ExAC gnomAD
CA408520280 rs1380296289	460	R>G		No	ClinGen TOPMed gnomAD
rs780897205 CA9802581	460	R>T		No	ClinGen ExAC gnomAD
rs745643344 CA9802582	464	T>A		No	ClinGen ExAC TOPMed gnomAD
rs755823366 CA9802583	464	T>I		No	ClinGen ExAC gnomAD
VAR_036269	464	T>N	a colorectal cancer sample; somatic mutation [UniProt]	No	UniProt
rs745643344 CA408520306	464	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1442561614 CA408520319	466	I>V		No	ClinGen gnomAD
CA408520337 rs1274202104	468	E>D		No	ClinGen TOPMed gnomAD
CA9802586 rs768222591	469	D>V		No	ClinGen ExAC TOPMed gnomAD
rs773838940 CA408520350	470	V>A		No	ClinGen ExAC TOPMed
rs773838940 CA9802587	470	V>G		No	ClinGen ExAC TOPMed
rs1376085559 COSM1410966 CA408520352	471	V>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	475	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767430762 CA9802615	476	K>R		No	ClinGen ExAC gnomAD
CA9802616 rs750727309	477	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	477	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408520533 rs1261690181	477	K>T		No	ClinGen TOPMed
rs1274368569 CA408520538	478	V>I		No	ClinGen gnomAD
CA9802617 rs760795199	479	L>V		No	ClinGen ExAC gnomAD
CA408520549 rs1186277621	480	P>S		No	ClinGen TOPMed gnomAD
CA9802618 rs766212220	481	I>N		No	ClinGen ExAC gnomAD
rs1476003157 CA408520563	482	T>S		No	ClinGen gnomAD
CA408520568 rs754732212	483	V>F		No	ClinGen ExAC TOPMed gnomAD
CA9802620 rs754732212	483	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA408520578 rs1397197705	485	K>Q		No	ClinGen gnomAD
rs1433804084 CA408520582	485	K>R		No	ClinGen gnomAD
rs757927116 CA9802623	487	P>L		No	ClinGen ExAC gnomAD
rs1309926768 CA408520620	491	L>S		No	ClinGen gnomAD
TCGA novel	494	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408520653 rs1295181114	495	I>S		No	ClinGen gnomAD
CA313843962 rs267605874 COSM184886	496	R>*	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs780605957 CA9802627	496	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs556215015 CA9802628	498	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408520673 rs1344933582	499	T>A		No	ClinGen gnomAD
rs577777824 CA9802630	500	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1313369697 CA408520681	500	K>R		No	ClinGen TOPMed
CA408520692 rs1397514582	501	E>D		No	ClinGen TOPMed
rs972858335 CA313843973	502	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	504	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9802658 rs61754553	507	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs531472784 CA9802659	508	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139533740 CA9802661	509	V>G		No	ClinGen 1000Genomes ExAC
CA408520825 rs138622443	509	V>I		No	ClinGen ESP TOPMed gnomAD
CA313844272 rs138622443	509	V>L		No	ClinGen ESP TOPMed gnomAD
rs150674434 CA9802663	510	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141634457 CA9802662	510	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3933837 CA313844284 rs954863198	511	I>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs954863198 CA408520842	511	I>V		No	ClinGen TOPMed gnomAD
rs925380454 CA313844287	512	K>E		No	ClinGen TOPMed
rs1485101399 CA408520871	513	A>V		No	ClinGen TOPMed
rs532371108 CA9802664	515	P>A		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	515	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1333514303 CA408520892	516	V>M		No	ClinGen gnomAD
CA408520906 rs1211338459	517	P>R		No	ClinGen gnomAD
CA9802665 rs750158396	518	H>R		No	ClinGen ExAC gnomAD
rs1176365878 CA408520926	519	Y>C		No	ClinGen gnomAD
CA408520922 rs1468887244	519	Y>H		No	ClinGen gnomAD
TCGA novel	520	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1420697698 CA408520985	525	P>S		No	ClinGen gnomAD
CA9802668 rs748495937	530	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	531	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408521092 rs1167197746	534	E>D		No	ClinGen gnomAD
rs910715056 CA408521109	536	C>G		No	ClinGen TOPMed
rs910715056 CA313844314	536	C>R		No	ClinGen TOPMed
CA408521152 rs1461939829	539	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1375936955 CA408521184	541	D>E		No	ClinGen gnomAD
CA408521194 rs1392399250	542	S>C		No	ClinGen gnomAD
CA313844322 rs149816634	543	R>P		No	ClinGen ESP ExAC gnomAD
CA9802672 rs149816634	543	R>Q		No	ClinGen ESP ExAC gnomAD
rs776675121 CA9802674	544	D>G		No	ClinGen ExAC gnomAD
rs776675121 CA9802673	544	D>V		No	ClinGen ExAC gnomAD
TCGA novel	544	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1037437543 CA313844331	545	K>E		No	ClinGen TOPMed
rs530216322 CA9802676	547	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs530216322 CA313844335	547	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762675916 CA9802677	547	R>H		No	ClinGen ExAC TOPMed gnomAD
rs530216322 CA408521248	547	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA313844342 rs549790553	550	Q>K		No	ClinGen Ensembl
CA408521300 rs1249613324	551	K>N		No	ClinGen gnomAD
TCGA novel	552	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA313844346 rs371398626	553	K>E		No	ClinGen ESP TOPMed gnomAD
rs1177585320 CA408521347	556	K>E		No	ClinGen gnomAD
TCGA novel	556	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1256994752 CA408521362	557	E>K		No	ClinGen gnomAD
rs1474365881 CA408521384	558	L>R		No	ClinGen gnomAD
COSM1533077 CA9802679 rs774434215	559	Q>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	563	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408521486 rs1279369083	564	P>S		No	ClinGen gnomAD
rs1039649296 CA313844446	565	K>E		No	ClinGen Ensembl
CA9802691 rs781287068	566	F>L		No	ClinGen ExAC gnomAD
rs745974930 CA9802692	575	D>V		No	ClinGen ExAC TOPMed gnomAD
rs749459297 CA9802695	577	I>L		No	ClinGen ExAC TOPMed gnomAD
CA408521637 rs1352376778	577	I>T		No	ClinGen TOPMed
rs749459297 CA9802696	577	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9802697 rs774266568	582	K>E		No	ClinGen ExAC gnomAD
rs1173619546 CA408521689	582	K>N		No	ClinGen gnomAD
CA9802698 rs577156270	583	K>N		No	ClinGen ExAC TOPMed gnomAD
rs772168207 CA9802699	588	T>I		No	ClinGen ExAC gnomAD
rs1312296259 CA408521769	589	Q>H		No	ClinGen TOPMed
CA408521763 rs1237621613	589	Q>P		No	ClinGen TOPMed
rs760119522 CA9802701	598	D>N		No	ClinGen ExAC gnomAD
rs765852539 CA9802703	599	R>G		No	ClinGen ExAC gnomAD
CA9802705 rs764486833	600	R>I		No	ClinGen ExAC TOPMed gnomAD
CA9802706 rs751887166	602	A>T		No	ClinGen ExAC gnomAD
rs757574075 CA408521949	606	Q>*		No	ClinGen ExAC gnomAD
CA9802707 rs757574075	606	Q>E		No	ClinGen ExAC gnomAD
rs1004408343 CA313844492	608	W>C		No	ClinGen Ensembl
CA313844498 rs187382705	609	K>N		No	ClinGen 1000Genomes TOPMed
rs935818977 CA313844501	610	H>Y		No	ClinGen TOPMed gnomAD
rs767802961 CA408522544 CA9802727	615	E>D		No	ClinGen ExAC TOPMed gnomAD
CA408522537 rs1174336487	615	E>G		No	ClinGen gnomAD
CA408522566 rs1213159097	617	R>K		No	ClinGen gnomAD
rs1271749884 CA408522572	617	R>S		No	ClinGen gnomAD
rs1213159097 CA408522568	617	R>T		No	ClinGen gnomAD
rs961737031 CA313845580	621	E>Q		No	ClinGen Ensembl
rs1199963692 CA408522679	623	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	625	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1413281959 CA408522759	628	R>C		No	ClinGen gnomAD
CA9802728 rs750957560	628	R>H		No	ClinGen ExAC gnomAD
CA9802729 rs756622891	629	P>L		No	ClinGen ExAC gnomAD
TCGA novel	629	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408522779 rs1175115202	630	N>D		No	ClinGen TOPMed gnomAD
CA408522777 rs1175115202	630	N>H		No	ClinGen TOPMed gnomAD
rs34482966 CA9802731	632	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA313845595 rs781120778	633	I>L		No	ClinGen Ensembl
CA408522872 rs1487207615	635	Q>R		No	ClinGen TOPMed
CA408522896 rs1267609760	636	E>G		No	ClinGen TOPMed
rs755061300 CA9802732	637	P>H		No	ClinGen ExAC gnomAD
CA408522940 rs1392148184	639	V>I		No	ClinGen TOPMed gnomAD
CA9802733 rs779294039	640	P>S		No	ClinGen ExAC gnomAD
TCGA novel	641	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1334947984 CA408523005	643	E>K		No	ClinGen gnomAD
CA408523037 rs1439831198	645	K>Q		No	ClinGen TOPMed gnomAD
rs777614350 CA9802736	646	S>L		No	ClinGen ExAC gnomAD
CA9802737 rs746964990	647	V>F		No	ClinGen ExAC gnomAD
rs1443587485 CA408523183	650	G>D		No	ClinGen gnomAD
CA9802752 rs755116339	650	G>S		No	ClinGen ExAC gnomAD
CA408523213 rs765406910	653	G>R		No	ClinGen ExAC gnomAD
CA9802753 rs765406910	653	G>S		No	ClinGen ExAC gnomAD
rs1474399620 CA408523263	657	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	658	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9802755 rs753030367	659	P>A		No	ClinGen ExAC gnomAD
CA9802756 rs758675589	659	P>L		No	ClinGen ExAC gnomAD
CA313845932 rs888630849	663	A>P		No	ClinGen TOPMed
rs1433937981 CA408523343	664	T>A		No	ClinGen gnomAD
CA9802757 rs777464716	665	E>K		No	ClinGen ExAC gnomAD
rs1404637439 CA408523402	668	A>D		No	ClinGen gnomAD
CA408523435 rs781200449	670	E>D		No	ClinGen ExAC gnomAD
CA313845940 rs977471895	670	E>G		No	ClinGen Ensembl
rs754249727 CA408523442	671	R>L		No	ClinGen TOPMed gnomAD
rs754249727 CA313845942	671	R>Q		No	ClinGen TOPMed gnomAD
rs1433469600 CA408523439	671	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9802761 rs745736630	673	E>D		No	ClinGen ExAC gnomAD
CA408523470 rs1260888000	673	E>G		No	ClinGen TOPMed
rs1600397284 CA408523487	675	E>G		No	ClinGen Ensembl
CA408523497 rs1232570086	676	K>E		No	ClinGen gnomAD
rs145356341 CA313845945	678	M>K		No	ClinGen ESP TOPMed gnomAD
rs887151180 CA313845946	681	V>G		No	ClinGen Ensembl
CA9802762 rs769359500	684	Q>K		No	ClinGen ExAC gnomAD
rs1166943553 CA408523601	685	K>E		No	ClinGen Ensembl
rs1444818021 CA408523618	686	A>T		No	ClinGen gnomAD
CA408523624 rs1600397332	686	A>V		No	ClinGen Ensembl
rs1248626482 CA408523650	688	Q>L		No	ClinGen gnomAD
rs867651744 CA313845949	689	L>V		No	ClinGen gnomAD
rs1379547401 CA408523672	690	E>Q		No	ClinGen gnomAD
CA9802765 rs768387250	693	R>I		No	ClinGen ExAC TOPMed gnomAD
CA408523734 rs1382878625	695	Q>*		No	ClinGen TOPMed gnomAD
rs773827848 CA9802766	695	Q>R		No	ClinGen ExAC gnomAD
rs1370914806 CA408523755	696	E>D		No	ClinGen gnomAD
rs761116339 CA9802767	696	E>Q		No	ClinGen ExAC gnomAD
rs1439114512 CA408523761	697	E>K		No	ClinGen gnomAD
CA9802768 rs766589316	700	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1332091212 CA408523834	702	E>*		No	ClinGen gnomAD
CA408523862 rs1385202004	704	L>V		No	ClinGen TOPMed
rs1233482989 CA408523882	706	R>G		No	ClinGen TOPMed gnomAD
CA9802770 rs760110966	708	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs961144867 CA313845996	708	R>W		No	ClinGen TOPMed gnomAD
CA408523908 rs1408075185	710	E>Q		No	ClinGen TOPMed
rs1418748868 CA408523918	711	L>P		No	ClinGen TOPMed
CA313846738 rs1052208114	712	V>M		No	ClinGen gnomAD
COSM576817 CA9802787 rs778633428	713	H>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA408524095 rs1248641928	717	P>L		No	ClinGen TOPMed gnomAD
rs747753595 CA9802788	718	I>V		No	ClinGen ExAC TOPMed gnomAD
rs567634733 CA9802789	719	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9802790 rs374726805	719	R>H		No	ClinGen ESP ExAC TOPMed
CA9802791 rs767134687	720	K>T		No	ClinGen ExAC gnomAD
rs770451094 CA9802792	722	Q>E		No	ClinGen ExAC TOPMed gnomAD
COSM1410967 CA408524157 rs1461736650	723	G>D	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs919144095 CA313846752	723	G>S		No	ClinGen TOPMed gnomAD
CA9802793 rs375449068	725	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1308301165 CA408524191	726	I>M		No	ClinGen TOPMed gnomAD
rs1303917876 CA408524211	728	S>*		No	ClinGen TOPMed
rs764011374 CA9802795	729	S>G		No	ClinGen ExAC gnomAD
TCGA novel	729	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751873245 CA9802796	730	D>A		No	ClinGen ExAC gnomAD
CA9802797 rs761926162	732	P>R		No	ClinGen ExAC TOPMed gnomAD
CA408524269 rs1322289174	734	T>A		No	ClinGen TOPMed gnomAD
CA408524275 rs1173439744	734	T>S		No	ClinGen TOPMed
CA9802799 rs750249759	735	V>M		No	ClinGen ExAC TOPMed gnomAD
CA408524326 rs1568615597	740	K>Q		No	ClinGen Ensembl
rs1206134901 CA408524332	740	K>R		No	ClinGen gnomAD
rs1186956544 CA408524363	743	T>A		No	ClinGen TOPMed
CA9802800 rs755855349	743	T>S		No	ClinGen ExAC gnomAD
CA9802801 COSM397129 rs779981710	744	R>*	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1025608 CA9802802 rs753710645	744	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1169015396 CA408524385	745	F>L		No	ClinGen gnomAD
CA9802804 rs778276903	746	H>R		No	ClinGen ExAC gnomAD
CA408524401 rs1168776442	747	C>R		No	ClinGen gnomAD
rs571448654 CA9802806	748	C>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408524416 rs1304102609	748	C>S		No	ClinGen TOPMed gnomAD

No associated diseases with Q9ULW0

5 regional properties for Q9ULW0

Type	Name	Position	InterPro Accession
domain	Aurora-A binding	1 - 68	IPR015128
domain	TPX2, C-terminal	543 - 589	IPR027329-1
domain	TPX2, C-terminal	660 - 734	IPR027329-2
domain	TPX2 central domain	366 - 451	IPR027330-1
domain	TPX2 central domain	450 - 489	IPR027330-2

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm, cytoskeleton, spindle Cytoplasm, cytoskeleton, spindle pole	During mitosis it is strictly associated with the spindle pole and with the mitotic spindle, whereas during S and G2, it is diffusely distributed throughout the nucleus Is released from the nucleus in apoptotic cells and is detected on apoptotic microtubules
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
axon hillock	Portion of the neuronal cell soma from which the axon originates.
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.
mitotic spindle	A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules.
nuclear microtubule	Any microtubule in the nucleus of a cell.
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.
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
importin-alpha family protein binding	Binding to a member of the importin-alpha family.
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.
protein kinase activator activity	Binds to and increases the activity of a protein kinase, an enzyme which phosphorylates a protein.
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.

8 GO annotations of biological process

Name	Definition
activation of protein kinase activity	Any process that initiates the activity of an inactive protein kinase.
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
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 nucleation	The process in which tubulin alpha-beta heterodimers begin aggregation to form an oligomeric tubulin structure (a microtubule seed). Microtubule nucleation is the initiating step in the formation of a microtubule in the absence of any existing microtubules ('de novo' microtubule formation).
mitotic cell cycle	Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent.
mitotic spindle assembly	Mitotic bipolar spindle assembly begins with spindle microtubule nucleation from the separated spindle pole body, includes spindle elongation during prometaphase, and is complete when all kinetochores are stably attached the spindle, and the spindle assembly checkpoint is satisfied.
negative regulation of microtubule depolymerization	Any process that stops, prevents, or reduces the frequency, rate or extent of microtubule depolymerization; prevention of depolymerization of a microtubule can result from binding by 'capping' at the plus end (e.g. by interaction with another cellular protein of structure) or by exposing microtubules to a stabilizing drug such as taxol.
regulation of mitotic spindle organization	Any process that modulates the rate, frequency or extent of the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A6H6Z7	TPX2	Targeting protein for Xklp2	Bos taurus (Bovine)	PR
A2APB8	Tpx2	Targeting protein for Xklp2	Mus musculus (Mouse)	PR
F4I2H7	TPX2	Protein TPX2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSQVKSSYSY	DAPSDFINFS	SLDDEGDTQN	IDSWFEEKAN	LENKLLGKNG	TGGLFQGKTP
70	80	90	100	110	120
LRKANLQQAI	VTPLKPVDNT	YYKEAEKENL	VEQSIPSNAC	SSLEVEAAIS	RKTPAQPQRR
130	140	150	160	170	180
SLRLSAQKDL	EQKEKHHVKM	KAKRCATPVI	IDEILPSKKM	KVSNNKKKPE	EEGSAHQDTA
190	200	210	220	230	240
EKNASSPEKA	KGRHTVPCMP	PAKQKFLKST	EEQELEKSMK	MQQEVVEMRK	KNEEFKKLAL
250	260	270	280	290	300
AGIGQPVKKS	VSQVTKSVDF	HFRTDERIKQ	HPKNQEEYKE	VNFTSELRKH	PSSPARVTKG
310	320	330	340	350	360
CTIVKPFNLS	QGKKRTFDET	VSTYVPLAQQ	VEDFHKRTPN	RYHLRSKKDD	INLLPSKSSV
370	380	390	400	410	420
TKICRDPQTP	VLQTKHRARA	VTCKSTAELE	AEELEKLQQY	KFKARELDPR	ILEGGPILPK
430	440	450	460	470	480
KPPVKPPTEP	IGFDLEIEKR	IQERESKKKT	EDEHFEFHSR	PCPTKILEDV	VGVPEKKVLP
490	500	510	520	530	540
ITVPKSPAFA	LKNRIRMPTK	EDEEEDEPVV	IKAQPVPHYG	VPFKPQIPEA	RTVEICPFSF
550	560	570	580	590	600
DSRDKERQLQ	KEKKIKELQK	GEVPKFKALP	LPHFDTINLP	EKKVKNVTQI	EPFCLETDRR
610	620	630	640	650	660
GALKAQTWKH	QLEEELRQQK	EAACFKARPN	TVISQEPFVP	KKEKKSVAEG	LSGSLVQEPF
670	680	690	700	710	720
QLATEKRAKE	RQELEKRMAE	VEAQKAQQLE	EARLQEEEQK	KEELARLRRE	LVHKANPIRK
730	740
YQGLEIKSSD	QPLTVPVSPK	FSTRFHC