AiPD: Autoinhibited Protein Database

Q7Z460

Gene name	CLASP1 (KIAA0622, MAST1)
Protein name	CLIP-associating protein 1
Names	Cytoplasmic linker-associated protein 1 , Multiple asters homolog 1 , Protein Orbit homolog 1 , hOrbit1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23332
EC number
Protein Class

Descriptions

CLASPs, major microtubule-stabilizing factors in interphase and mitosis, prevent microtubule from switching form growth to shortening by stabilizing growing microtubule ends, and thus suppress microtubule catastrophes. CLASP2a consists of three TOG-like domains (termed TOG1, 2, and 3) and a C-terminal domain, CLIP-interacting domain (CLIP-ID) responsible for interaction with CLIP-170 and other partners. CLASP2a TOG2 is necessary and sufficient for catastrophe inhibition. The inhibition function is suppressed by the C-terminal domain CLIP-ID while the TOG1 domain or the CLIP-ID partner binding to CLIP-ID can release the autoinhibition.

Autoinhibitory domains (AIDs)

1421-1530 (C-terminal domain CLIP-ID) SS

Target domain	849-1087 (TOG2 domain)
Relief mechanism	Partner binding
Assay

AID

1421-1530 (C-terminal domain CLIP-ID)

Target domain

849-1087 (TOG2 domain)

Relief mechanism

Partner binding (TOG1 domain or CLIP-ID partner binding)

Assay

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

Aher A et al. (2018) "CLASP Suppresses Microtubule Catastrophes through a Single TOG Domain", Developmental cell, 46, 40-58.e8

Autoinhibited structure

Activated structure

4 structures for Q7Z460

Entry ID	Method	Resolution	Chain	Position	Source
4K92	X-ray	200 A	A/B	284-552	PDB
6MQ5	X-ray	215 A	A/B	1-257	PDB
6MQ7	X-ray	178 A	A/B	284-552	PDB
AF-Q7Z460-F1	Predicted				AlphaFoldDB

962 variants for Q7Z460

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs763383278 CA1854819	3	P>S		No	ClinGen ExAC TOPMed gnomAD
rs756093299 CA1854817	4	R>C		No	ClinGen ExAC TOPMed gnomAD
rs756093299 CA1854818	4	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1006042 CA348200256 rs116427811	4	R>H	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs116427811 CA1854816	4	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780882004 CA1854815	5	M>L		No	ClinGen ExAC gnomAD
CA1854814 rs546504890	5	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766102115 CA348200229	8	C>F		No	ClinGen ExAC TOPMed gnomAD
rs766102115 CA1854812	8	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA1854811 rs762154890	10	A>V		No	ClinGen ExAC TOPMed gnomAD
rs375125291 CA1854809	11	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs761273418 CA1854808	14	Q>H		No	ClinGen ExAC gnomAD
rs999680162 CA54828048	16	D>V		No	ClinGen TOPMed gnomAD
rs1249284846 CA348200153	20	R>*		No	ClinGen gnomAD
CA348200152 rs1445020042	20	R>Q		No	ClinGen TOPMed
CA348200138 rs1165171711	22	Q>R		No	ClinGen TOPMed
rs561212944 CA1854804	23	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs200734193 CA1854806	23	V>F		No	ClinGen ExAC TOPMed gnomAD
CA1854805 rs200734193	23	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	26	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749410829 CA348200112	26	E>D		No	ClinGen ExAC TOPMed gnomAD
CA1854803 rs771128062	26	E>G		No	ClinGen ExAC gnomAD
rs773067210 CA1854801	28	I>R		No	ClinGen ExAC gnomAD
CA1854799 rs189760808	30	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA348200071 rs1301638790	32	S>L		No	ClinGen TOPMed
rs781256833 CA1854798	37	S>F		No	ClinGen ExAC gnomAD
rs1250345067 CA348200018	40	L>V		No	ClinGen gnomAD
CA1854797 rs754579696	41	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	44	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1453858608 CA348199981	45	T>A		No	ClinGen TOPMed
CA348199978 rs1276114937	45	T>N		No	ClinGen TOPMed gnomAD
CA348199979 rs1276114937	45	T>S		No	ClinGen TOPMed gnomAD
CA1854795 rs371800004	46	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs746516024 CA1854796	46	M>T		No	ClinGen ExAC gnomAD
CA54828035 rs1053315617	46	M>V		No	ClinGen TOPMed
CA348199953 rs1407845627	49	K>*		No	ClinGen gnomAD
CA54828031 rs928799677	49	K>R		No	ClinGen Ensembl
TCGA novel	51	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348199933 rs1237130812	52	D>V		No	ClinGen TOPMed gnomAD
rs1307479697 CA348199909	56	T>A		No	ClinGen gnomAD
rs373752835 CA54828027	57	S>C		No	ClinGen gnomAD
CA348199881 rs1369476232	60	N>T		No	ClinGen gnomAD
CA1854792 rs764537029	61	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1332589999 CA348197963	69	L>V		No	ClinGen gnomAD
rs1369770775 CA348197942	72	D>Y		No	ClinGen TOPMed
CA1854642 rs755662433	76	A>V		No	ClinGen ExAC gnomAD
CA54810487 rs866841102	77	L>M		No	ClinGen gnomAD
rs1235421977 CA348197883	82	Q>P		No	ClinGen gnomAD
CA348197854 rs1182626447	86	K>R		No	ClinGen gnomAD
rs1264781610 CA348197847	87	A>G		No	ClinGen gnomAD
CA54810484 rs376819522	87	A>T		No	ClinGen ESP gnomAD
rs1020319724 CA54810482	88	Q>L		No	ClinGen Ensembl
rs1224458197 CA348197830	90	G>R		No	ClinGen gnomAD
rs1204538916 CA348197789	95	S>G		No	ClinGen gnomAD
rs1427665121 CA348197787	95	S>N		No	ClinGen gnomAD
CA1854626 rs770580921	97	I>T		No	ClinGen ExAC gnomAD
TCGA novel	102	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348197733 rs1415798687	103	A>G		No	ClinGen TOPMed
rs747648230 CA1854622	105	D>E		No	ClinGen ExAC gnomAD
rs755752319 CA1854623	105	D>G		No	ClinGen ExAC gnomAD
CA1854621 rs780792397	106	S>P		No	ClinGen ExAC gnomAD
rs1313185796 CA348197699	109	E>K		No	ClinGen TOPMed
CA1854620 rs754684015	110	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs751135271 CA1854619	111	D>N		No	ClinGen ExAC gnomAD
CA348197644 rs1301969163	117	K>R		No	ClinGen gnomAD
rs898747828 CA54810086	118	I>M		No	ClinGen gnomAD
rs1309647071 CA348197622	120	D>A		No	ClinGen TOPMed
rs754413144 CA1854616	122	A>V		No	ClinGen ExAC gnomAD
rs199865832 CA1854615	123	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs940031877 CA54810082	124	N>H		No	ClinGen Ensembl
CA54810080 rs868195925	126	Q>*		No	ClinGen Ensembl
TCGA novel	126	Q>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769674332 COSM3694852 COSM3694851 CA1854587	128	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA1854588 rs769674332	128	V>L		No	ClinGen ExAC gnomAD
rs1350345854 CA348197536	131	R>K		No	ClinGen TOPMed
CA348197531 rs1575674898	132	M>L		No	ClinGen Ensembl
rs776690487 CA1854585	132	M>T		No	ClinGen ExAC gnomAD
rs1237766934 CA348197514	134	G>E		No	ClinGen gnomAD
TCGA novel	138	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746501087 CA1854583	142	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1166847994 CA348197455	142	R>H		No	ClinGen TOPMed gnomAD
CA1854582 rs779554996	143	T>I		No	ClinGen ExAC gnomAD
CA1854580 COSM1006041 rs530152747	144	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
TCGA novel	144	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348197446 rs1470907638	144	R>Q		No	ClinGen gnomAD
rs778131218 CA1854579	146	G>D		No	ClinGen ExAC gnomAD
CA1854578 rs562726155	147	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs562726155 CA1854577	147	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348197415 rs1441173599	149	L>F		No	ClinGen TOPMed
CA1854575 rs755143508	152	I>T		No	ClinGen ExAC gnomAD
CA348197396 rs1184677970	152	I>V		No	ClinGen TOPMed
CA348197389 rs1234114153	153	A>S		No	ClinGen TOPMed
CA348197387 rs1470141868	153	A>V		No	ClinGen TOPMed
CA348197384 rs1176142636	154	T>A		No	ClinGen TOPMed
rs751604073 CA1854574	155	L>V		No	ClinGen ExAC gnomAD
CA1854573 rs766416174	156	N>S		No	ClinGen ExAC TOPMed gnomAD
rs763116348 CA1854572 COSM1201263	157	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1219677651 CA348197323	162	T>A		No	ClinGen TOPMed gnomAD
rs374274936 CA1854553	163	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1292004958 CA348197307	164	T>I		No	ClinGen gnomAD
rs371181889 CA1854552	166	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA1854551 rs368900332	167	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA54809414 rs374473983	168	I>T		No	ClinGen ESP TOPMed
rs753687070 CA1854549	172	I>M		No	ClinGen ExAC TOPMed gnomAD
CA348197243 rs1300095121	174	N>S		No	ClinGen gnomAD
rs932117737 CA54809408	177	G>V		No	ClinGen TOPMed
rs1392160892 CA348197207	179	P>L		No	ClinGen TOPMed gnomAD
TCGA novel	181	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1403227996 CA348197189	182	Q>K		No	ClinGen gnomAD
rs1189932217 CA348197159 COSM1006040	184	R>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs767475220 CA1854527	185	D>E		No	ClinGen ExAC gnomAD
CA1854525 rs201686208	186	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1854526 rs759410954	186	A>T		No	ClinGen ExAC gnomAD
rs1402938221 CA348197140	187	A>G		No	ClinGen gnomAD
TCGA novel	190	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA54806923 rs60656191	192	V>M		No	ClinGen gnomAD
rs765835483 CA1854524	193	E>G		No	ClinGen ExAC gnomAD
rs376118817 CA1854523	194	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs772900748 CA1854522	196	R>T		No	ClinGen ExAC
rs761099726 CA1854520	199	G>E		No	ClinGen ExAC gnomAD
rs775922468 CA1854519	201	R>H		No	ClinGen ExAC gnomAD
CA348197031 rs1439277810	204	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1854517 rs201222017	207	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	210	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348196977 rs1263807269	211	L>F		No	ClinGen TOPMed gnomAD
CA1854514 rs574686823	213	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1854515 rs574686823	213	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778050580 CA1854513	214	S>A		No	ClinGen ExAC gnomAD
CA348196957 rs1379491569	215	R>W		No	ClinGen gnomAD
CA348196926 rs909004977	217	N>K		No	ClinGen TOPMed
rs1192767722 CA348196924	218	V>I		No	ClinGen TOPMed
CA1854495 rs200120405	220	F>V		No	ClinGen ExAC TOPMed gnomAD
rs370412928 CA1854494	229	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs370412928 CA348196841	229	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs770261375 CA1854493	231	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1415708971 CA348196823	232	M>K		No	ClinGen gnomAD
rs1184640704 CA348196816	233	I>L		No	ClinGen gnomAD
VAR_053818 CA54802289 rs17761055	233	I>T		No	ClinGen UniProt Ensembl dbSNP
rs1184640704 CA348196817	233	I>V		No	ClinGen gnomAD
rs780995946 CA1854491	236	A>S		No	ClinGen ExAC gnomAD
CA54802285 rs748722592	236	A>V		No	ClinGen Ensembl
rs569847060 CA1854490	237	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA348196791 rs1228078016	237	N>S		No	ClinGen gnomAD
rs758666661 CA348177706	238	D>G		No	ClinGen ExAC gnomAD
CA1854418 rs758666661	238	D>V		No	ClinGen ExAC gnomAD
TCGA novel	240	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	240	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1854416 rs765656733	242	D>N		No	ClinGen ExAC gnomAD
CA1854413 COSM319477 rs764108132	243	D>G	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs753925339 CA1854414	243	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA348177619 rs764108132	243	D>V		No	ClinGen ExAC gnomAD
rs753925339 CA348177622	243	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA1854412 rs377074508	247	V>A		No	ClinGen ESP ExAC gnomAD
CA348177495 rs1173697314	248	D>G		No	ClinGen gnomAD
CA348177413 rs1246886901	252	P>T		No	ClinGen TOPMed gnomAD
CA1854410 rs771963386	258	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1403669776 CA348177266	259	S>L		No	ClinGen TOPMed
rs759249391 CA1854409	259	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1319997028 CA348177217	262	A>P		No	ClinGen TOPMed gnomAD
rs1404580340 CA348177203	262	A>V		No	ClinGen Ensembl
rs774131776 CA1854408	263	P>L		No	ClinGen ExAC gnomAD
rs770789277 CA1854407	265	S>C		No	ClinGen ExAC gnomAD
CA1854406 rs150204660	265	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150204660 CA1854405	265	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348177127 rs769397751	267	R>G		No	ClinGen ExAC gnomAD
CA348177124 rs1438880039	267	R>Q		No	ClinGen TOPMed gnomAD
CA1854404 rs769397751	267	R>W		No	ClinGen ExAC gnomAD
rs201375216 CA1854400	270	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs201375216 CA1854401	270	V>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs367922299 CA1854402	270	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA348177063 rs367922299	270	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA54456744 rs961186300	273	G>A		No	ClinGen gnomAD
CA348177006 rs961186300	273	G>E		No	ClinGen gnomAD
CA348176994 rs1285312300	274	T>A		No	ClinGen TOPMed
CA1854399 rs188274950	274	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348176983 rs188274950	274	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371848173 CA54456728	275	T>I		No	ClinGen ESP gnomAD
CA1854398 rs757780292	275	T>P		No	ClinGen ExAC
CA1854397 rs754298542	276	R>C		No	ClinGen ExAC gnomAD
rs1173902473 CA348176953	276	R>H		No	ClinGen gnomAD
CA1854396 rs764212566	277	R>Q		No	ClinGen ExAC gnomAD
CA348176945 rs1232051803	277	R>W		No	ClinGen gnomAD
rs1200131826 CA348176933	278	L>V		No	ClinGen TOPMed
CA348176866 rs1179077140	282	T>A		No	ClinGen gnomAD
rs200579174 CA1854394	283	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA348176847 rs1206330318	283	L>P		No	ClinGen TOPMed
CA348176821 rs1441843311	285	S>F		No	ClinGen gnomAD
rs767640905 CA1854393	285	S>T		No	ClinGen ExAC TOPMed gnomAD
CA348176805 rs1221140472	287	S>A		No	ClinGen TOPMed gnomAD
CA1854391 rs774038770	287	S>C		No	ClinGen ExAC gnomAD
CA348176807 rs1221140472	287	S>T		No	ClinGen TOPMed gnomAD
rs2118388 CA54452612	289	A>V		No	ClinGen Ensembl
CA348175670 rs1427975120	290	A>T		No	ClinGen gnomAD
CA348175662 rs1339288309	291	K>E		No	ClinGen gnomAD
CA348175657 rs1298355461	291	K>R		No	ClinGen gnomAD
CA348175645 rs1482107864	292	E>G		No	ClinGen TOPMed gnomAD
CA348175648 rs1184370218	292	E>K		No	ClinGen gnomAD
CA348175644 rs1482107864	292	E>V		No	ClinGen TOPMed gnomAD
CA348175562 rs1363467720	300	E>V		No	ClinGen gnomAD
CA348175481 rs1405848757	307	D>H		No	ClinGen gnomAD
rs1405848757 CA348175482	307	D>N		No	ClinGen gnomAD
rs1317232269 CA348175461	308	D>E		No	ClinGen TOPMed
rs762828479 CA1854370	309	V>A		No	ClinGen ExAC gnomAD
TCGA novel	310	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1184732256 CA348175440	311	V>L		No	ClinGen gnomAD
rs1476849631 CA348175431	312	V>I		No	ClinGen gnomAD
CA348175358 rs1289849367	314	I>N		No	ClinGen gnomAD
CA1854360 rs749660812	315	Y>S		No	ClinGen ExAC gnomAD
rs748650358 CA348175321	318	R>*		No	ClinGen ExAC TOPMed gnomAD
CA348175318 rs1171540631	318	R>Q		No	ClinGen gnomAD
rs1559293217 CA348175314	319	D>H		No	ClinGen Ensembl
TCGA novel	319	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1854356 rs781169557	323	S>T		No	ClinGen ExAC gnomAD
rs559511652 COSM1242131 CA1854355	324	I>V	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA348175193 rs1248884458	329	E>A		No	ClinGen gnomAD
CA348175192 rs1248884458	329	E>G		No	ClinGen gnomAD
CA1854352 rs758624626	334	D>N		No	ClinGen ExAC gnomAD
CA348175117 rs1219890291	336	H>Y		No	ClinGen gnomAD
CA348174982 rs1361441170	344	A>T		No	ClinGen gnomAD
CA348174780 rs1254973415	348	I>F		No	ClinGen gnomAD
rs1233506613 CA348174758	348	I>M		No	ClinGen TOPMed gnomAD
rs1471756819 CA348174631	353	L>F		No	ClinGen gnomAD
rs946618298 CA54451143	358	E>V		No	ClinGen TOPMed
CA348173951 rs1313640412	359	Y>C		No	ClinGen gnomAD
CA348173954 rs940836161	359	Y>D		No	ClinGen Ensembl
CA348173946 rs1313640412	359	Y>F		No	ClinGen gnomAD
rs940836161 CA54451139	359	Y>H		No	ClinGen Ensembl
rs1450439424 CA348173799	367	R>C		No	ClinGen gnomAD
CA348173798 rs1400137238	367	R>H		No	ClinGen gnomAD
CA1854339 rs748653125	368	L>P		No	ClinGen ExAC gnomAD
rs781714955 CA1854338	369	L>W		No	ClinGen ExAC gnomAD
rs1238809142 CA348173765	370	D>N		No	ClinGen TOPMed
CA1854337 rs755079316	372	A>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	381	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866230295 CA54451091	381	R>W		No	ClinGen Ensembl
rs758714207 CA1854334	385	V>A		No	ClinGen ExAC gnomAD
CA1854335 rs780223558	385	V>L		No	ClinGen ExAC gnomAD
CA348173577 rs1422644691	386	R>Q		No	ClinGen gnomAD
rs371571878 CA1854320	395	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs780309721 CA1854318	398	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1289906670 CA348173372	400	G>E		No	ClinGen gnomAD
CA348173373 rs1575060698	400	G>R		No	ClinGen Ensembl
rs983136382 CA54450628	401	N>D		No	ClinGen TOPMed
rs772245591 CA1854317	401	N>S		No	ClinGen ExAC TOPMed
CA54450609 rs924865116	402	K>Q		No	ClinGen TOPMed
CA348173305 rs1575060495	405	H>Q		No	ClinGen Ensembl
CA348173268 rs1265888562	408	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA348173247 rs1381904449	409	A>T		No	ClinGen TOPMed gnomAD
rs1284275785 CA348173238	410	I>L		No	ClinGen TOPMed
CA1854315 rs374728655	422	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1452633927 CA348173014	422	A>V		No	ClinGen TOPMed gnomAD
CA348172995 rs1276456992	423	K>R		No	ClinGen gnomAD
CA1854314 rs201602543	426	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1030527247 CA54450600	430	V>G		No	ClinGen Ensembl
rs1186913031 CA348172890	430	V>I		No	ClinGen TOPMed
CA54450587 rs74834104	434	R>W		No	ClinGen Ensembl
COSM3406828 COSM3406827 rs752601023 CA1854310	438	R>Q	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs771432085 CA54450109	442	I>M		No	ClinGen gnomAD
CA348172634 rs1443728009	444	R>G		No	ClinGen gnomAD
CA348172573 rs1263899541	448	V>A		No	ClinGen TOPMed
rs374760188 CA54450104	449	I>V		No	ClinGen ESP TOPMed
rs749433383 CA1854293	451	S>G		No	ClinGen ExAC gnomAD
CA1854292 rs777665341	451	S>N		No	ClinGen ExAC gnomAD
rs755883786 CA1854291	453	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA348172518 rs1170432490	454	T>I		No	ClinGen gnomAD
CA348172474 rs1377957561	459	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA348171339 rs1472982745	463	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs866786082 CA54445616	463	R>H		No	ClinGen gnomAD
TCGA novel	465	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348171261 rs1559253576	469	D>E		No	ClinGen Ensembl
CA348171258 rs761103080	470	L>M		No	ClinGen ExAC gnomAD
CA1854281 rs761103080	470	L>V		No	ClinGen ExAC gnomAD
CA348171213 rs1181674716	473	Q>R		No	ClinGen TOPMed
rs768155654 CA1854279	474	E>Q		No	ClinGen ExAC gnomAD
CA1854278 rs200965196	474	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1319404082 CA348171175	476	Q>E		No	ClinGen gnomAD
CA54445556 rs865955060	476	Q>R		No	ClinGen gnomAD
rs1173534928 CA348171165	477	T>A		No	ClinGen TOPMed
CA348171157 rs1285841345	477	T>I		No	ClinGen TOPMed gnomAD
rs750146305 CA1854266	484	I>T		No	ClinGen ExAC gnomAD
COSM1006029 rs757820358 CA1854267	484	I>V	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1854265 rs764974369	485	S>P		No	ClinGen ExAC gnomAD
rs1347916943 CA348171019	486	V>I		No	ClinGen gnomAD
rs957435710 CA54444815	491	I>V		No	ClinGen Ensembl
rs753137003 CA1854263	495	I>V		No	ClinGen ExAC gnomAD
rs199752541 CA1854262	496	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1574976702 CA348170887	498	A>P		No	ClinGen Ensembl
rs774699558 CA1854260	504	I>L		No	ClinGen ExAC TOPMed gnomAD
rs766538890 CA1854259	504	I>M		No	ClinGen ExAC gnomAD
CA1854239 rs766802202	512	G>D		No	ClinGen ExAC gnomAD
rs750489909 CA1854237	513	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	519	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA54443284 rs1014282480	521	A>G		No	ClinGen TOPMed gnomAD
rs1445517438 CA348169879	522	E>K		No	ClinGen TOPMed
rs1446017509 CA348169788	526	H>Q		No	ClinGen gnomAD
rs762061975 CA1854235	526	H>R		No	ClinGen ExAC gnomAD
CA348169778 rs1399634241	527	T>S		No	ClinGen gnomAD
CA1854232 rs760381151	528	L>F		No	ClinGen ExAC TOPMed gnomAD
rs771928116 CA1854230	531	S>C		No	ClinGen ExAC gnomAD
rs371396586 CA1854227	535	A>T		No	ClinGen ESP ExAC gnomAD
CA348169613 rs1205295247	535	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1250589487 CA348169589	537	Q>R		No	ClinGen gnomAD
rs1178383013 CA348169567	538	S>F		No	ClinGen gnomAD
CA1854226 rs749007464	539	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	540	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1483628433 CA348169522	541	K>R		No	ClinGen TOPMed gnomAD
rs368848404 CA54443231	545	S>G		No	ClinGen ESP TOPMed gnomAD
CA348169440 rs1349765979	546	I>V		No	ClinGen gnomAD
rs751884481 CA1854223	547	V>A		No	ClinGen ExAC TOPMed gnomAD
rs758386970 CA1854222	549	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1309083366 CA348169327	551	Q>H		No	ClinGen gnomAD
COSM1168892 CA1854220 rs750898560	554	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1854219 rs765350056	554	R>H		No	ClinGen ExAC gnomAD
TCGA novel	561	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1854217 rs754122561	564	N>S		No	ClinGen ExAC gnomAD
CA348168936 rs1574948854	565	R>C		No	ClinGen Ensembl
rs756333219 CA1854197	565	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752945821 CA1854196	566	P>L		No	ClinGen ExAC TOPMed gnomAD
rs766434250 CA1854192	570	K>N		No	ClinGen ExAC gnomAD
TCGA novel	572	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1490045495 CA348168836	574	T>I		No	ClinGen TOPMed
CA1854191 rs762936346	576	S>R		No	ClinGen ExAC gnomAD
rs1263672625 CA348168808	577	T>N		No	ClinGen gnomAD
rs1372555730 CA348168796 COSM3708856 COSM3708857	579	S>C	liver Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA1854172 rs578012011	583	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA1854171 rs200838170	584	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs775932822 CA1854170	585	S>N		No	ClinGen ExAC gnomAD
rs948636948 CA54441915	587	K>R		No	ClinGen TOPMed gnomAD
CA1854169 rs768308373	588	S>P		No	ClinGen ExAC gnomAD
CA348168007 rs760269462	589	V>L		No	ClinGen ExAC gnomAD
CA1854168 rs760269462	589	V>M		No	ClinGen ExAC gnomAD
rs915852110 CA54441909	591	T>M		No	ClinGen gnomAD
rs1433804272 CA348167830	597	R>Q		No	ClinGen gnomAD
CA348167804 rs1395517628	598	S>F		No	ClinGen gnomAD
rs371060582 CA1854167	599	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1221457670 CA348167682	602	I>T		No	ClinGen TOPMed
CA1854164 rs778343148	606	A>S		No	ClinGen ExAC gnomAD
rs1574938924 CA348167567	607	A>P		No	ClinGen Ensembl
CA348167532 rs1275296086	608	A>S		No	ClinGen gnomAD
TCGA novel	608	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1202580283 CA348167484	609	S>G		No	ClinGen TOPMed
CA1854162 rs748274139	611	K>I		No	ClinGen ExAC gnomAD
rs1347606973 CA348167352	613	K>R		No	ClinGen gnomAD
rs1458867471 CA348167260	615	S>F		No	ClinGen TOPMed
rs148498284 CA1854160	617	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1854159 rs373074533	618	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA348167205 rs1337033275	619	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs758253235 CA348167160	620	T>K		No	ClinGen ExAC TOPMed gnomAD
rs758253235 CA1854157	620	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs761594795 CA1854154	621	T>M		No	ClinGen ExAC gnomAD
rs1469112021 CA348167154	621	T>P		No	ClinGen TOPMed
rs569748710 CA54441764	628	A>P		No	ClinGen 1000Genomes
CA348166927 rs1334092618 CA348166922	629	L>F		No	ClinGen TOPMed
CA348166912 rs1417651805	630	P>R		No	ClinGen gnomAD
CA1854152 rs763552579	631	P>S		No	ClinGen ExAC gnomAD
rs551376927 CA1854151	633	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1201259 rs1260435428 CA348166821	635	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	637	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348182070 rs376845029	639	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1854117 rs372040368	639	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1854118 rs376845029	639	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA348182065 rs1444716442	640	I>F		No	ClinGen gnomAD
CA348182062 rs1249078288	640	I>S		No	ClinGen TOPMed
CA348182058 rs1374006665	641	R>C		No	ClinGen TOPMed gnomAD
CA1854116 rs150410557 COSM1399137	641	R>H	Variant assessed as Somatic; 0.0005126 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA54470957 rs150410557	641	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348182056 rs1397361529	642	T>P		No	ClinGen gnomAD
CA348182048 rs1157573381	643	R>K		No	ClinGen gnomAD
rs532629050 CA1854114	644	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348182042 rs1417988408	644	R>W		No	ClinGen TOPMed gnomAD
CA348182038 rs1484512701	645	Q>E		No	ClinGen gnomAD
CA1854113 rs367816555	645	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA348182006 rs373643093	649	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs368747816 CA1854108	652	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1854107 rs777068924	653	V>I		No	ClinGen ExAC TOPMed gnomAD
CA1854105 rs761211165	654	A>T		No	ClinGen ExAC TOPMed gnomAD
rs772011672 CA1854103	657	P>L		No	ClinGen ExAC gnomAD
TCGA novel	658	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1377710152 CA348181916	659	N>K		No	ClinGen gnomAD
rs750384484 COSM1006026 CA54470836	660	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA348181911 rs540398790	660	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA348181892 rs1363854779	662	R>H		No	ClinGen gnomAD
CA348181881 rs1160589143	663	S>I		No	ClinGen TOPMed gnomAD
COSM1185989 CA348181884 rs1160589143	663	S>N	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs370837663 CA1854101	664	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs771121083 CA1854100	664	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777494962 CA1854098	665	A>T		No	ClinGen ExAC TOPMed gnomAD
CA348181815 rs1486127100	670	Q>R		No	ClinGen gnomAD
CA54470823 rs960375642	672	Q>R		No	ClinGen TOPMed
rs771081534 CA1854080	675	R>T		No	ClinGen ExAC gnomAD
rs1227061712 CA348181637	677	A>S		No	ClinGen gnomAD
TCGA novel	679	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA54469024 rs944957335	679	P>T		No	ClinGen TOPMed
CA1854079 rs763125535	681	G>D		No	ClinGen ExAC gnomAD
CA1854057 rs767923805	685	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1299784736 CA348181298	687	S>N		No	ClinGen TOPMed
rs1395536478 CA348181292	688	S>P		No	ClinGen gnomAD
CA54467571 rs769179334	690	G>E		No	ClinGen gnomAD
rs1199850610 CA348181262	692	L>F		No	ClinGen TOPMed
CA348181251 rs1181320491	694	G>E		No	ClinGen gnomAD
rs985638837 CA54467554	695	S>G		No	ClinGen TOPMed
CA1854053 rs763214607	695	S>T		No	ClinGen ExAC TOPMed gnomAD
CA1854051 rs369735527	696	G>D		No	ClinGen ESP ExAC TOPMed
rs373774923 CA1854052	696	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA348181227 rs377056109	698	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA348181230 rs1209091674	698	G>C		No	ClinGen gnomAD
CA1854050 rs377056109	698	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1347886531 CA348181199	703	G>D		No	ClinGen gnomAD
CA54467508 rs980791963	703	G>S		No	ClinGen TOPMed
CA348181194 rs1478732762	704	S>A		No	ClinGen TOPMed
CA348181190 rs1351909253	705	S>T		No	ClinGen TOPMed gnomAD
CA1854044 rs771685570	706	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA348181176 rs1336082496	707	G>D		No	ClinGen TOPMed gnomAD
CA348181170 rs745572464	708	P>L		No	ClinGen ExAC TOPMed gnomAD
rs745572464 CA1854043	708	P>R		No	ClinGen ExAC TOPMed gnomAD
rs958220718 CA54467439	709	P>A		No	ClinGen gnomAD
CA1854041 rs756912864	710	V>G		No	ClinGen ExAC gnomAD
CA1854042 rs778715257	710	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1414393696 CA348181159	711	T>A		No	ClinGen gnomAD
rs555496742 CA1854040	712	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs755481967 CA1854038 COSM1305602	714	S>L	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1574649930 CA348181126	716	K>R		No	ClinGen Ensembl
rs558478108 CA1854036	717	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA1854035 rs758471563	719	K>R		No	ClinGen ExAC gnomAD
CA348181088 rs1219715042	722	R>K		No	ClinGen TOPMed
CA1854034 rs750433614	725	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1232368297 CA348181049	727	S>I		No	ClinGen gnomAD
rs761970220 CA1854032	728	R>Q		No	ClinGen ExAC gnomAD
CA54467359 rs999647321	730	T>I		No	ClinGen Ensembl
TCGA novel	730	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs115822315 CA1854031	733	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760577565 CA1854029	735	I>K		No	ClinGen ExAC TOPMed gnomAD
rs760577565 CA54467335	735	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1854028 rs371460646	736	G>R		No	ClinGen ESP ExAC gnomAD
rs1391010935 CA348180987	737	L>F		No	ClinGen gnomAD
CA1854027 rs771773438	738	A>T		No	ClinGen ExAC gnomAD
rs374244033 CA1854016	739	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1854017 rs200744541	739	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA348180632 rs757460054	740	S>N		No	ClinGen ExAC gnomAD
rs757460054 CA1854015	740	S>T		No	ClinGen ExAC gnomAD
rs577699950 CA1854014	741	S>G		No	ClinGen 1000Genomes ExAC
rs1480142114 CA348180626	741	S>N		No	ClinGen gnomAD
rs1014424969 COSM1201258 CA54462959	742	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs763851949 CA1854013 COSM1248369	742	R>H	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA1854012 rs760512919	743	I>M		No	ClinGen ExAC gnomAD
CA1854011 rs775369004	745	R>*		No	ClinGen ExAC
rs767586870 CA1854010	745	R>Q		No	ClinGen ExAC gnomAD
rs759507537 CA1854009	746	P>H		No	ClinGen ExAC gnomAD
rs770547250 CA1854007	747	S>N		No	ClinGen ExAC gnomAD
rs772916255 CA1854006	748	M>L		No	ClinGen ExAC TOPMed gnomAD
rs186502681 CA54462884	748	M>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1854004 RCV000885736 rs186502681	748	M>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs772916255 CA1854005	748	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	749	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	750	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348180574 rs1480430286	750	Q>P		No	ClinGen TOPMed
rs566913049 CA54462877	752	C>Y		No	ClinGen 1000Genomes
CA348180553 rs1469286437	753	S>N		No	ClinGen TOPMed
rs181847582 CA1854002	754	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1854001 rs376555215	754	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA348180533 rs1171578844	755	D>H		No	ClinGen TOPMed
rs1368467284 CA348180511	756	T>I		No	ClinGen gnomAD
rs779014202 CA1853999	756	T>P		No	ClinGen ExAC gnomAD
COSM1399135 CA54462834 rs1055573348	758	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA348180491 rs757346087	758	R>H		No	ClinGen ExAC gnomAD
CA1853998 rs757346087	758	R>L		No	ClinGen ExAC gnomAD
CA54462808 rs754074342	762	R>*		No	ClinGen ExAC TOPMed gnomAD
CA54462816 rs754074342	762	R>G		No	ClinGen ExAC TOPMed gnomAD
rs778058950 CA1853996	762	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs756243437 CA1853995	764	T>I		No	ClinGen ExAC gnomAD
CA1853994 rs370212531	765	S>I		No	ClinGen ESP ExAC gnomAD
rs751469252 CA54462783	765	S>R		No	ClinGen Ensembl
rs376971698 CA1853993	767	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1049090250 CA54462755	768	R>Q		No	ClinGen TOPMed gnomAD
CA1853992 COSM295982 rs765905351	768	R>W	large_intestine Variant assessed as Somatic; 4.669e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA54462751 rs930215943	771	P>L		No	ClinGen gnomAD
rs762320678 CA1853991	772	P>A		No	ClinGen ExAC TOPMed gnomAD
CA1853990 rs765875396	773	L>F		No	ClinGen ExAC TOPMed gnomAD
CA348179831 rs1256587897	775	R>G		No	ClinGen gnomAD
rs775868299 CA1853985	775	R>Q		No	ClinGen ExAC gnomAD
CA1853984 rs772403167	777	G>E		No	ClinGen ExAC gnomAD
rs1213646167 CA348179792	778	L>P		No	ClinGen gnomAD
CA1853981 rs201334614	780	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA1853979 rs777677060	784	I>L		No	ClinGen ExAC TOPMed gnomAD
CA348179513 rs777677060	784	I>V		No	ClinGen ExAC TOPMed gnomAD
rs913069284 CA54458591	785	P>R		No	ClinGen Ensembl
rs1485283041 CA348179488	786	G>D		No	ClinGen TOPMed
CA348179476 rs1312396059	787	S>F		No	ClinGen gnomAD
TCGA novel	790	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1574472509 CA348179433	791	M>I		No	ClinGen Ensembl
CA1853978 rs534675243	791	M>V		No	ClinGen ExAC TOPMed gnomAD
rs781195244 CA1853976	793	V>A		No	ClinGen ExAC gnomAD
CA1853977 rs536889625	793	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1160882025 CA348179379	797	S>N		No	ClinGen gnomAD
rs751335906 CA1853974	798	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1158207975 CA348179372	798	T>S		No	ClinGen TOPMed
CA1853972 rs762747242	800	L>V		No	ClinGen ExAC gnomAD
CA1853971 rs374198290	802	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1425339093 CA348179333	802	A>T		No	ClinGen TOPMed gnomAD
CA348179288 rs1336718180	806	D>E		No	ClinGen TOPMed
rs764617067 CA1853970	806	D>G		No	ClinGen ExAC gnomAD
CA54458570 rs752930464	806	D>N		No	ClinGen gnomAD
CA348178997 rs1200648362	809	K>Q		No	ClinGen TOPMed
rs1190304153 CA348178935	812	V>L		No	ClinGen gnomAD
rs749729483	815	R>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA54456949 rs945138130	816	Y>C		No	ClinGen TOPMed
CA348178869 rs1442426378	816	Y>H		No	ClinGen TOPMed
rs1208837567 CA348178830	818	P>A		No	ClinGen gnomAD
CA1853908 rs372334996	818	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1379120979 CA348178762	821	M>I		No	ClinGen TOPMed
CA1853904 rs754613126	825	D>N		No	ClinGen ExAC gnomAD
rs368574540 CA54456914	826	D>E		No	ClinGen ESP TOPMed
CA348178651 rs1363089974	828	N>H		No	ClinGen gnomAD
rs955271452 CA348178642	828	N>S		No	ClinGen TOPMed gnomAD
rs955271452 CA54456902	828	N>T		No	ClinGen TOPMed gnomAD
rs1449286533 CA348178592	831	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA348178586 rs1435911466	831	A>V		No	ClinGen gnomAD
rs1163021362 CA348178534	835	C>F		No	ClinGen gnomAD
rs1405139674 CA348178489	838	R>C		No	ClinGen TOPMed gnomAD
rs765663813 CA1853902	838	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1390131833 CA348178410	842	S>Y		No	ClinGen gnomAD
CA348178404 rs1188564868	843	R>G		No	ClinGen TOPMed gnomAD
CA348178314 rs1232933431	849	H>D		No	ClinGen TOPMed
CA1853896 rs772204015	850	Y>D		No	ClinGen ExAC
CA1853894 rs774182050	850	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA1853895 rs774182050	850	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA1853892 rs749291442	852	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs374477265 CA1853893	852	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA348178278 rs1341291867	853	Q>E		No	ClinGen gnomAD
rs777693061 CA1853891	853	Q>H		No	ClinGen ExAC gnomAD
COSM1006024 CA348178255 rs1229218104	854	T>S	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA348178251 rs1238245340	855	E>K		No	ClinGen TOPMed
rs368183089 CA348178224	856	D>E		No	ClinGen ESP TOPMed gnomAD
CA1853890 rs371949818	856	D>G		No	ClinGen ESP ExAC TOPMed
rs747635695 CA1853889	858	A>T		No	ClinGen ExAC gnomAD
rs754624202 CA1853887	865	A>T		No	ClinGen ExAC gnomAD
CA348178086 rs1428222484	868	N>H		No	ClinGen gnomAD
CA348178059 rs1269316770	870	S>P		No	ClinGen TOPMed
rs757688668 CA1853884	880	Q>R		No	ClinGen ExAC gnomAD
rs1190247317 CA348177929	881	N>K		No	ClinGen TOPMed gnomAD
TCGA novel	883	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348177901 rs1407438534	884	K>R		No	ClinGen gnomAD
rs1482639991 CA348177880	886	Q>E		No	ClinGen gnomAD
rs1275259956 CA348177866	887	R>I		No	ClinGen gnomAD
rs1209432824 CA348177546	891	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs768195061 CA1853869	903	R>Q		No	ClinGen ExAC gnomAD
CA348177244 rs1465013620	903	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs971962806 CA54454638	910	S>N		No	ClinGen TOPMed
CA348176315 rs772102022	918	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	919	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368511562 CA348176290	920	T>I		No	ClinGen gnomAD
CA54452942 rs368511562	920	T>S		No	ClinGen gnomAD
rs1202865559 CA348176276	922	V>L		No	ClinGen TOPMed gnomAD
CA54452938 rs752328318	923	D>Y		No	ClinGen Ensembl
CA1853782 rs368068969	925	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA54452937 rs965951011	925	I>V		No	ClinGen TOPMed
rs745774776 CA1853781	927	I>T		No	ClinGen ExAC TOPMed gnomAD
rs772596892 CA1853780	928	H>Q		No	ClinGen ExAC gnomAD
rs201272076 CA1853779	929	K>R		No	ClinGen ExAC TOPMed gnomAD
CA1853778 rs774043184	930	D>G		No	ClinGen ExAC TOPMed gnomAD
CA1853777 rs770901925	931	D>V		No	ClinGen ExAC gnomAD
rs973840424 CA54452918	932	L>V		No	ClinGen gnomAD
CA348176056 rs1343683530	941	T>I		No	ClinGen gnomAD
CA348176044 rs1282781193	942	Q>H		No	ClinGen TOPMed gnomAD
rs1212709927 CA348176047	942	Q>R		No	ClinGen TOPMed
TCGA novel	944	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1853774 rs756356850	947	M>I		No	ClinGen ExAC gnomAD
rs999331515 CA54452906	951	L>I		No	ClinGen TOPMed
CA54452902 rs1015266037	953	G>V		No	ClinGen Ensembl
rs781105177 CA1853772	959	V>I		No	ClinGen ExAC TOPMed gnomAD
CA1853770 rs200301740	962	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1853771 rs754994609	962	A>S		No	ClinGen ExAC gnomAD
CA348175829 rs754994609	962	A>T		No	ClinGen ExAC gnomAD
rs868682764 CA54452870	964	D>E		No	ClinGen TOPMed
rs1480623368 CA348175807	964	D>G		No	ClinGen gnomAD
rs765985794 CA1853769	967	R>G		No	ClinGen ExAC gnomAD
CA1853756 rs770183210	971	P>L		No	ClinGen ExAC TOPMed gnomAD
CA348174936 rs1265250374	971	P>S		No	ClinGen gnomAD
rs1265250374 CA348174933	971	P>T		No	ClinGen gnomAD
CA54448521 rs992366098	972	F>L		No	ClinGen TOPMed gnomAD
rs748361489 CA1853755	972	F>S		No	ClinGen ExAC gnomAD
TCGA novel	977	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348174754 rs1452745570	979	L>F		No	ClinGen gnomAD
CA1853753 rs768334737	980	M>V		No	ClinGen ExAC gnomAD
CA348174668 rs1318209998	982	F>S		No	ClinGen gnomAD
rs746755600 CA1853752	983	I>T		No	ClinGen ExAC gnomAD
rs1345618056 CA348174638	984	V>M		No	ClinGen TOPMed gnomAD
rs1421941552 CA348174574	987	T>S		No	ClinGen gnomAD
CA54448515 rs1033364003	990	P>L		No	ClinGen Ensembl
CA348174484 rs1183006984	992	L>H		No	ClinGen gnomAD
CA1853751 rs554236826	992	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA1853731 rs771942025	997	A>V		No	ClinGen ExAC gnomAD
rs745781521 CA1853730	998	I>V		No	ClinGen ExAC gnomAD
CA348174258 rs1326597015	1002	I>M		No	ClinGen gnomAD
rs778452107 CA1853729	1002	I>T		No	ClinGen ExAC gnomAD
CA348174264 rs1271809323	1002	I>V		No	ClinGen gnomAD
rs1166393265 CA348174247	1003	E>D		No	ClinGen TOPMed
rs1297349871 CA348174223	1006	A>V		No	ClinGen gnomAD
rs1026509834 CA54447817	1007	R>K		No	ClinGen TOPMed
CA348174169 rs1344682316	1011	P>S		No	ClinGen gnomAD
rs1244174676 CA348174126	1015	V>I		No	ClinGen gnomAD
CA348174096 rs1392916610	1017	S>C		No	ClinGen TOPMed
rs777313795 CA1853726	1017	S>P		No	ClinGen ExAC gnomAD
CA348174071 rs1166172518	1020	T>A		No	ClinGen gnomAD
rs1559029956 CA348173964	1028	I>T		No	ClinGen Ensembl
rs200743120 CA54447768	1028	I>V		No	ClinGen Ensembl
rs376354100 CA54447767	1030	W>C		No	ClinGen ESP
CA348173894 rs1172858480	1031	T>I		No	ClinGen gnomAD
TCGA novel	1037	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1853723 rs766745448	1038	D>G		No	ClinGen ExAC gnomAD
rs1490963928 CA348173764	1039	V>L		No	ClinGen gnomAD
CA348173770 rs1490963928	1039	V>M		No	ClinGen gnomAD
CA1853721 rs750964963	1041	K>R		No	ClinGen ExAC gnomAD
CA348172300 rs1383324783	1042	A>T		No	ClinGen gnomAD
CA54441469 rs962857176	1046	V>M		No	ClinGen Ensembl
rs759339487 CA1853695	1050	L>V		No	ClinGen ExAC gnomAD
rs1181152457 CA348172202	1051	F>V		No	ClinGen gnomAD
CA54441423 rs374774647	1055	T>S		No	ClinGen Ensembl
rs1443552158 CA348172127	1057	E>D		No	ClinGen gnomAD
rs201519918 CA54441419	1059	T>I		No	ClinGen ESP TOPMed gnomAD
CA348172067 rs1205230528	1063	G>D		No	ClinGen gnomAD
CA348171984 rs1283243317	1070	Q>H		No	ClinGen gnomAD
rs770896983 CA1853693	1074	T>S		No	ClinGen ExAC gnomAD
CA54441406 rs1011054369	1076	L>F		No	ClinGen TOPMed
rs749229058 CA1853692	1079	N>Y		No	ClinGen ExAC gnomAD
CA348171900 rs1265917588	1081	L>F		No	ClinGen TOPMed
TCGA novel	1082	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1243872585 CA348171885	1083	N>T		No	ClinGen gnomAD
CA348171876 rs1382182873	1084	S>C		No	ClinGen gnomAD
rs1034103589 CA54441371	1085	S>I		No	ClinGen TOPMed
CA1853690 rs769345721	1086	N>Y		No	ClinGen ExAC gnomAD
rs1404902829 CA348171851	1088	S>N		No	ClinGen gnomAD
rs1401665975 CA348171842	1089	V>A		No	ClinGen TOPMed gnomAD
CA348171763 rs1476260171	1092	P>L		No	ClinGen gnomAD
rs372482466 CA54440870	1093	S>N		No	ClinGen ESP
CA348171752 rs1266450906	1093	S>R		No	ClinGen gnomAD
CA348171750 rs1259093476	1094	N>H		No	ClinGen gnomAD
CA1853674 rs773202450	1095	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761404442 CA1853673	1096	I>S		No	ClinGen ExAC gnomAD
CA1853672 rs761404442	1096	I>T		No	ClinGen ExAC gnomAD
CA1853670 rs768466565	1098	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs776246147 CA1853671	1098	R>W		No	ClinGen ExAC TOPMed gnomAD
rs746640653 CA1853669	1099	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1574164502 CA348171702	1099	T>P		No	ClinGen Ensembl
CA1853667 rs749549765	1100	P>L		No	ClinGen ExAC gnomAD
rs749549765 CA1853666	1100	P>R		No	ClinGen ExAC gnomAD
rs778357528 CA1853665	1101	S>P		No	ClinGen ExAC gnomAD
rs530938834 CA1853664	1102	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA348171662 rs1164297223	1103	H>Y		No	ClinGen TOPMed
rs1305557399 CA348171640	1105	S>N		No	ClinGen gnomAD
CA1853662 rs781225595	1106	S>R		No	ClinGen ExAC gnomAD
CA1853658 rs762816865	1115	T>A		No	ClinGen ExAC gnomAD
CA1853657 rs750132728	1115	T>N		No	ClinGen ExAC gnomAD
CA348171522 rs1175458835	1116	N>S		No	ClinGen gnomAD
CA54440790 rs796807052	1117	C>Y		No	ClinGen Ensembl
CA348171490 rs1480280655	1119	H>Y		No	ClinGen gnomAD
rs769486803 CA1853655	1120	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1362592275 CA348171469	1121	G>R		No	ClinGen TOPMed
rs776334075 CA1853654	1123	S>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1126	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348170455 rs1446056263	1126	R>P		No	ClinGen TOPMed
CA348170461 rs1286842610	1126	R>W		No	ClinGen TOPMed gnomAD
rs1452859774 CA348170406	1129	G>D		No	ClinGen gnomAD
TCGA novel	1131	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA54437268 rs371184633	1133	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs764058169 CA1853635 COSM1399133	1133	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1853633 rs775092504	1134	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1853632 rs185426411	1136	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1485786018 CA348170089	1138	H>D		No	ClinGen TOPMed gnomAD
CA348170070 rs1574090158	1138	H>P		No	ClinGen Ensembl
CA348170074 rs1485786018	1138	H>Y		No	ClinGen TOPMed gnomAD
rs1270254714 CA348170036	1139	P>L		No	ClinGen TOPMed
CA1853630 rs773683256	1140	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1357964424 CA348169988	1141	P>L		No	ClinGen gnomAD
rs770048112 CA1853629	1144	Q>*		No	ClinGen ExAC gnomAD
CA348169301 rs1574089525	1148	I>T		No	ClinGen Ensembl
rs748444120 CA1853628	1148	I>V		No	ClinGen ExAC gnomAD
rs769099893 CA1853626	1149	P>A		No	ClinGen ExAC gnomAD
CA348169279 rs1402984470	1149	P>L		No	ClinGen gnomAD
rs769099893 CA348169289	1149	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs769099893 CA348169297	1149	P>T		No	ClinGen ExAC gnomAD
rs899105080 CA54437213	1150	T>I		No	ClinGen gnomAD
CA1853623 rs778656548	1151	A>P		No	ClinGen ExAC gnomAD
CA1853622 rs778656548	1151	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1430548896 CA348169234	1151	A>V		No	ClinGen gnomAD
rs757124853 CA1853620	1154	H>N		No	ClinGen ExAC gnomAD
rs368898801 COSM569615 CA1853619	1155	K>E	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA348169098 rs1196301809	1157	L>P		No	ClinGen gnomAD
rs907711983 CA54437165	1158	R>K		No	ClinGen TOPMed
rs374468779 CA54437161	1159	R>C		No	ClinGen ESP TOPMed gnomAD
rs1268867723 CA348169066	1159	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs374468779 CA348169071	1159	R>S		No	ClinGen ESP TOPMed gnomAD
TCGA novel	1161	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348169044 rs1489198380	1161	Y>H		No	ClinGen gnomAD
CA54437160 rs370142149	1162	S>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs977269839 CA54437158	1163	P>S		No	ClinGen TOPMed
CA348168056 rs578121908 CA1853604	1165	M>I		No	ClinGen ExAC TOPMed gnomAD
CA1853605 rs372952192	1165	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1322603942 CA348168081	1165	M>V		No	ClinGen gnomAD
rs1333910239 CA348168013	1167	D>V		No	ClinGen gnomAD
CA348167973 rs1270600322	1169	D>G		No	ClinGen TOPMed gnomAD
rs757506553 CA1853603	1169	D>Y		No	ClinGen ExAC gnomAD
rs1401293394 CA348167928	1171	E>G		No	ClinGen gnomAD
TCGA novel	1173	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749127142 CA1853602	1173	L>P		No	ClinGen ExAC gnomAD
TCGA novel	1175	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1405747002 CA348167788	1176	E>D		No	ClinGen gnomAD
rs1453457649 CA348167796	1176	E>G		No	ClinGen TOPMed
CA348167745 rs1173558457	1179	Y>C		No	ClinGen TOPMed gnomAD
rs1252972977 CA348167724	1180	S>G		No	ClinGen TOPMed
rs370401387 CA1853600	1183	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1853599 rs752571395	1183	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1853597 rs754458736	1186	T>K		No	ClinGen ExAC
rs751028676 CA1853596	1187	E>K		No	ClinGen ExAC
rs766048276 CA1853595	1188	A>G		No	ClinGen ExAC gnomAD
CA1853594 rs762559034	1190	E>V		No	ClinGen ExAC gnomAD
TCGA novel	1191	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754245466 CA1853593	1195	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1201974027 CA348167304	1196	S>N		No	ClinGen TOPMed gnomAD
rs775867411 CA1853590	1199	D>H		No	ClinGen ExAC TOPMed gnomAD
CA1853591 rs775867411	1199	D>N		No	ClinGen ExAC TOPMed gnomAD
rs775867411 CA348167197	1199	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs772575850 CA1853589	1201	N>S		No	ClinGen ExAC gnomAD
TCGA novel	1203	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1450669600 CA348167101	1204	I>V		No	ClinGen gnomAD
CA348167058 rs1365588605	1205	K>N		No	ClinGen TOPMed
rs774450164 CA348167040	1206	R>L		No	ClinGen ExAC TOPMed gnomAD
rs774450164 CA1853587	1206	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA348167037 rs1416574315	1207	D>N		No	ClinGen gnomAD
rs1558945442 CA348167004	1209	K>E		No	ClinGen Ensembl
rs1383432313 CA348166999	1209	K>R		No	ClinGen TOPMed gnomAD
CA1853585 rs749507352	1210	K>R		No	ClinGen ExAC gnomAD
CA1853584 rs777778172	1211	E>K		No	ClinGen ExAC TOPMed gnomAD
rs769714674 CA1853583	1212	C>R		No	ClinGen ExAC gnomAD
CA1853582 rs747918004	1212	C>Y		No	ClinGen ExAC gnomAD
TCGA novel	1213	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1006019 rs1333382569 CA348166884	1214	I>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1405017679 CA348166895	1214	I>V		No	ClinGen TOPMed gnomAD
CA54427409 rs1049285706	1215	V>A		No	ClinGen TOPMed gnomAD
CA348165248 rs1371566855	1215	V>L		No	ClinGen gnomAD
rs770007213 CA1853565	1217	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1853563 rs76724451	1217	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs76724451 CA1853564	1217	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368892378 CA1853560	1218	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs368892378 CA54427362	1218	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA1853558 rs749879429	1220	G>D		No	ClinGen ExAC gnomAD
CA1853559 rs757912999	1220	G>S		No	ClinGen ExAC TOPMed gnomAD
rs778562546 CA1853555	1221	A>S		No	ClinGen ExAC TOPMed gnomAD
rs778562546 CA54427339	1221	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1853554 rs756895698	1221	A>V		No	ClinGen ExAC TOPMed gnomAD
rs753045343 CA1853553	1223	S>P		No	ClinGen ExAC gnomAD
rs1403771209 CA348165208	1223	S>Y		No	ClinGen TOPMed gnomAD
CA1853550 rs144957722	1226	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1228	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773383542 CA1853548	1229	R>G		No	ClinGen ExAC TOPMed gnomAD
rs369750810 CA1853545	1229	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs369750810 CA1853546	1229	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs773383542 CA1853547	1229	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1853541 rs201624831	1230	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201624831 COSM1289264 CA1853539	1230	G>E	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA1853542 CA1853544 rs377065133	1230	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs201624831 CA1853540	1230	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1853543 rs377065133	1230	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs756909067 CA1853537	1231	G>C		No	ClinGen ExAC gnomAD
rs1223872822 CA348165171	1231	G>D		No	ClinGen TOPMed gnomAD
CA348165172 rs756909067	1231	G>S		No	ClinGen ExAC gnomAD
CA348165169 rs1223872822	1231	G>V		No	ClinGen TOPMed gnomAD
rs749719822	1231	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749719822	1232	S>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA1853534 rs748958721	1232	S>I		No	ClinGen ExAC gnomAD
CA348165157 rs1320502032	1233	E>G		No	ClinGen gnomAD
CA348165161 rs1199628373	1233	E>K		No	ClinGen TOPMed gnomAD
CA1853533 rs571030723	1234	V>A		No	ClinGen ExAC gnomAD
rs1223391952 CA348165140	1236	G>R		No	ClinGen gnomAD
rs539277662 CA1853531	1236	G>V		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	1237	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348165134 rs1276047700	1237	G>S		No	ClinGen gnomAD
CA54427250 rs755382948	1238	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1334802307 CA348165129	1238	R>Q		No	ClinGen TOPMed gnomAD
rs755382948 CA1853530	1238	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1853528 rs767022894	1240	A>T		No	ClinGen ExAC
CA1853527 rs369126224	1240	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765342978 CA1853525	1243	N>K		No	ClinGen ExAC gnomAD
CA54427226 rs1024332216	1244	K>E		No	ClinGen TOPMed gnomAD
rs762003925 CA1853524	1245	T>A		No	ClinGen ExAC gnomAD
rs1175999550 CA348165075	1247	L>P		No	ClinGen TOPMed
CA348165053 rs1468701671	1250	T>I		No	ClinGen gnomAD
CA348165058 rs1573885457	1250	T>P		No	ClinGen Ensembl
rs1466245898 CA348165052	1251	Q>K		No	ClinGen TOPMed
rs764169257 CA1853522	1252	P>L		No	ClinGen ExAC TOPMed gnomAD
rs150310586 CA1853521	1253	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348165037 rs1261585579	1253	P>S		No	ClinGen gnomAD
rs1573884981 CA348165032	1254	R>C		No	ClinGen Ensembl
rs775228149 CA1853520	1254	R>H		No	ClinGen ExAC TOPMed gnomAD
rs367574144 CA1853518	1255	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs200536508 CA1853516	1257	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA348165016 rs1380135545	1257	P>T		No	ClinGen gnomAD
CA1853513 rs755786834	1259	P>L		No	ClinGen ExAC gnomAD
CA1853509 rs779224200	1260	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1853508 rs779224200	1260	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM202675 CA1853510 rs368425278	1260	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs757376442 CA1853507	1261	A>V		No	ClinGen ExAC TOPMed gnomAD
rs764411908 CA1853505	1262	R>G		No	ClinGen ExAC gnomAD
rs984647654 CA54427101	1262	R>Q		No	ClinGen TOPMed gnomAD
CA348164990 rs1239701270	1263	D>N		No	ClinGen gnomAD
CA348164979 rs1431476420	1264	Y>C		No	ClinGen gnomAD
rs370655146 CA1853504	1264	Y>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs376007044 CA1853503	1266	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348164949 rs1241704766	1268	P>L		No	ClinGen TOPMed gnomAD
CA348164934 rs1375628278	1271	D>N		No	ClinGen TOPMed
rs1311617456 CA348164926	1272	A>T		No	ClinGen TOPMed gnomAD
CA1853500 rs774358218	1273	I>V		No	ClinGen ExAC gnomAD
rs373849955 CA54427053	1274	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs373849955 CA1853499	1274	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1277	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1853497 rs772564602	1277	D>N		No	ClinGen ExAC gnomAD
CA348164857 rs1444480184	1278	K>E		No	ClinGen TOPMed
rs769616989 CA1853496	1278	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs747786775 CA1853495	1279	T>N		No	ClinGen ExAC gnomAD
rs758961971 CA1853493	1280	A>S		No	ClinGen ExAC TOPMed gnomAD
rs758961971 COSM1006015 CA54427001	1280	A>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA54426991 rs927353757	1281	L>P		No	ClinGen TOPMed
TCGA novel	1283	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348164791 rs1558899911	1283	E>Q		No	ClinGen Ensembl
CA1853489 rs753994205	1287	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA54426981 rs202106861	1288	D>G		No	ClinGen ESP TOPMed gnomAD
CA1853487 rs756386666	1289	D>N		No	ClinGen ExAC gnomAD
rs1007355864 CA54426958	1290	M>I		No	ClinGen TOPMed gnomAD
CA348164663 rs1216132920	1290	M>V		No	ClinGen TOPMed
rs1488427751 CA348164621	1292	Q>E		No	ClinGen TOPMed
rs752913631 CA1853486	1294	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs374069974	1295	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs781422549 CA1853465	1297	P>S		No	ClinGen ExAC gnomAD
rs751418875 CA1853463	1298	I>V		No	ClinGen ExAC gnomAD
rs995331353 CA54470711	1299	D>G		No	ClinGen TOPMed gnomAD
rs896630387 CA54470718	1299	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA348182473 rs1408857688	1300	H>P		No	ClinGen TOPMed gnomAD
rs1405949443 CA348182464	1301	S>C		No	ClinGen TOPMed
TCGA novel	1303	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1853461 rs746270074	1303	L>V		No	ClinGen ExAC gnomAD
rs545160672 CA1853460	1306	D>E		No	ClinGen ExAC gnomAD
CA348182429 rs1573844842	1307	L>F		No	ClinGen Ensembl
rs1247953847 CA348182428	1307	L>H		No	ClinGen gnomAD
rs1177568836 CA348182425	1308	L>M		No	ClinGen gnomAD
rs1223928118 CA348182377	1315	N>H		No	ClinGen TOPMed
rs1256590767 CA348182370	1315	N>K		No	ClinGen gnomAD
CA348182372 rs1344204517	1315	N>S		No	ClinGen gnomAD
rs1234023183 CA348182362	1316	E>D		No	ClinGen TOPMed gnomAD
TCGA novel	1317	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774748342 CA1853458	1317	R>Q		No	ClinGen ExAC gnomAD
CA1853457 rs776244163	1318	V>M		No	ClinGen ExAC TOPMed gnomAD
CA348182334 rs1460815054	1321	R>Q		No	ClinGen TOPMed
COSM1399131 CA348182335 rs372875621	1321	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs771196049 CA1853453	1324	A>D		No	ClinGen ExAC gnomAD
rs1402080856 CA348182317	1324	A>T		No	ClinGen TOPMed gnomAD
rs749602220 CA1853452	1327	E>K		No	ClinGen ExAC TOPMed gnomAD
CA348182294 rs1377905146	1328	L>V		No	ClinGen TOPMed gnomAD
CA348182277 rs1573843445	1330	K>N		No	ClinGen Ensembl
rs1439865532 CA348182270	1331	I>M		No	ClinGen gnomAD
CA348182265 COSM1006014 rs1239685179	1332	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA1853448 rs781225663	1333	R>Q		No	ClinGen ExAC gnomAD
CA1853449 rs748266679 COSM441063	1333	R>W	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1558886934 CA348182251	1335	D>H		No	ClinGen Ensembl
CA1853447 rs755282484	1336	S>G		No	ClinGen ExAC gnomAD
CA1853446 rs747188884	1336	S>N		No	ClinGen ExAC TOPMed gnomAD
CA1853445 rs780253558	1336	S>R		No	ClinGen ExAC TOPMed gnomAD
CA348182230 rs1354677552	1338	G>D		No	ClinGen gnomAD
CA348182223 rs1311788919	1339	V>A		No	ClinGen gnomAD
rs1355436293 CA348182217	1340	W>*		No	ClinGen TOPMed
rs1243042175 CA348182212	1341	E>K		No	ClinGen gnomAD
CA348182204 rs1442514546	1342	E>K		No	ClinGen TOPMed
TCGA novel	1346	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1346	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA54470587 rs975980138	1351	L>V		No	ClinGen TOPMed
rs771461205 CA54470574	1359	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1299686389 CA348181950	1361	S>A		No	ClinGen TOPMed
rs1257851034 CA348181912	1363	R>Q		No	ClinGen TOPMed gnomAD
rs1039000170 CA54469211	1365	L>V		No	ClinGen gnomAD
CA1853417 rs755594869	1366	A>V		No	ClinGen ExAC gnomAD
rs1359842128 CA348181801	1370	L>S		No	ClinGen TOPMed gnomAD
rs767005164 CA1853415	1371	R>T		No	ClinGen ExAC gnomAD
CA1853414 rs759165442	1375	R>I		No	ClinGen ExAC gnomAD
rs1463755409 CA348181728	1378	P>R		No	ClinGen gnomAD
rs1325172009 CA348181730	1378	P>S		No	ClinGen gnomAD
CA1853412 rs765577807	1379	A>S		No	ClinGen ExAC gnomAD
rs769153880 CA1853409	1388	T>M		No	ClinGen ExAC gnomAD
COSM379926 rs775611138 CA1853407	1389	I>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA54469149 rs982373402	1393	L>M		No	ClinGen TOPMed gnomAD
CA1853404 rs373992151	1399	S>F		No	ClinGen ExAC gnomAD
rs770853916 CA1853403	1400	H>L		No	ClinGen ExAC gnomAD
CA348181513 rs1558878129	1400	H>N		No	ClinGen Ensembl
CA1853402 rs749035943	1402	E>V		No	ClinGen ExAC gnomAD
rs374318204 CA1853379	1404	V>M		No	ClinGen ESP ExAC gnomAD
rs780921353 CA1853378	1406	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA348179019 rs1386072050	1407	A>V		No	ClinGen Ensembl
rs1417979265 CA348179011	1408	E>G		No	ClinGen gnomAD
CA348178965 rs1573573843	1409	E>G		No	ClinGen Ensembl
CA1853375 rs779710005	1411	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	1413	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348178863 rs1181653250	1415	A>V		No	ClinGen gnomAD
CA1853372 rs764510229	1416	S>G		No	ClinGen ExAC TOPMed gnomAD
CA1853371 rs376723713	1416	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA348178787 rs1428724535	1419	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs768080165 CA1853369	1420	P>L		No	ClinGen ExAC gnomAD
CA348178727 rs1368198547	1421	E>D		No	ClinGen TOPMed
rs766755815 CA1853366	1425	K>R		No	ClinGen ExAC TOPMed gnomAD
rs763223281 CA1853365	1427	L>F		No	ClinGen ExAC gnomAD
CA348178611 rs1364819465	1428	C>R		No	ClinGen TOPMed
rs868861930 CA54459246	1429	P>L		No	ClinGen Ensembl
rs747835336 CA1853363	1430	I>N		No	ClinGen ExAC gnomAD
rs747835336 CA1853362	1430	I>S		No	ClinGen ExAC gnomAD
rs373446023 CA1853364	1430	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs746559768 CA348178528	1431	I>M		No	ClinGen ExAC gnomAD
rs768537850 CA1853360	1431	I>V		No	ClinGen ExAC gnomAD
CA348178490 rs1348406784 COSM716013	1433	T>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs758107417 CA1853357	1435	D>N		No	ClinGen ExAC TOPMed gnomAD
rs778367019 CA1853355	1436	Y>H		No	ClinGen ExAC gnomAD
CA348178416 rs1421220895	1438	I>V		No	ClinGen TOPMed gnomAD
CA348178383 rs1558813800	1439	N>K		No	ClinGen Ensembl
CA54459208 rs776597572	1443	I>M		No	ClinGen Ensembl
rs569768445 CA54459202	1445	M>T		No	ClinGen 1000Genomes
CA1853353 rs752955672	1448	K>R		No	ClinGen ExAC gnomAD
CA348178241 rs1450378827	1449	V>I		No	ClinGen TOPMed
CA54459180 rs760299989	1450	V>I		No	ClinGen TOPMed gnomAD
CA54459176 rs753542660	1451	E>G		No	ClinGen Ensembl
CA1853350 rs751745405	1451	E>K		No	ClinGen ExAC TOPMed gnomAD
rs766561741 CA1853349	1452	R>G		No	ClinGen ExAC gnomAD
TCGA novel	1453	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750670500 CA1853347	1454	A>T		No	ClinGen ExAC TOPMed gnomAD
CA348178064 rs1365748759	1461	L>I		No	ClinGen gnomAD
CA348178046 rs1263980328	1462	L>F		No	ClinGen gnomAD
TCGA novel	1462	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1853342 rs368823920	1464	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs760400075 CA348177682	1476	T>I		No	ClinGen ExAC gnomAD
rs760400075 CA1853323	1476	T>N		No	ClinGen ExAC gnomAD
CA348177659 rs1336659305	1477	E>*		No	ClinGen gnomAD
rs1309646665 CA348177654	1477	E>G		No	ClinGen gnomAD
CA348177623 rs1573549076	1479	S>R		No	ClinGen Ensembl
CA348177569 rs1273814055	1481	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	1482	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348177243 rs1358217148	1491	I>V		No	ClinGen TOPMed gnomAD
CA1853317 rs748942259	1494	V>I		No	ClinGen ExAC TOPMed gnomAD
rs769154861 CA1853315	1496	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1423148813 CA348177003	1498	D>N		No	ClinGen gnomAD
rs866115766 CA54458360	1501	P>H		No	ClinGen gnomAD
rs866115766 CA348176944	1501	P>L		No	ClinGen gnomAD
CA348176813 rs1283983791	1508	G>R		No	ClinGen gnomAD
CA54458310 rs889453306	1509	S>N		No	ClinGen TOPMed
rs867909676 CA54458306	1509	S>R		No	ClinGen Ensembl
rs769530896 CA1853297	1517	Y>C		No	ClinGen ExAC gnomAD
rs1327823585 CA348174897	1517	Y>H		No	ClinGen gnomAD
rs747417346 CA1853296	1520	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1263039758 CA348174750	1521	A>T		No	ClinGen TOPMed
CA1853295 rs775693615	1522	Q>E		No	ClinGen ExAC gnomAD
CA348174727 rs1166860564	1522	Q>L		No	ClinGen gnomAD
CA1853294 rs772692123	1523	T>N		No	ClinGen ExAC TOPMed gnomAD
CA348174666 rs1233751113	1524	T>N		No	ClinGen TOPMed
rs1405215750 CA348174619	1526	S>T		No	ClinGen TOPMed
TCGA novel	1528	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348174556 rs1196943495	1528	S>N		No	ClinGen gnomAD
CA1853292 rs779411147	1533	D>N		No	ClinGen ExAC gnomAD
CA1853291 COSM3743983 rs371012413	1536	T>M	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD

1 associated diseases with Q7Z460

[MIM: 615559]: Autoimmune lymphoproliferative syndrome 3 (ALPS3)

A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. CVID9 patients have B-cell deficiency and severe autoimmunity. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. CVID9 patients have B-cell deficiency and severe autoimmunity. . Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for Q7Z460

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	267 - 517	IPR000719
domain	SH2 domain	146 - 245	IPR000980
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	268 - 516	IPR001245
domain	SH3 domain	81 - 142	IPR001452
domain	Tyrosine-protein kinase, catalytic domain	267 - 516	IPR020635

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Chromosome, centromere, kinetochore Cytoplasm, cytoskeleton, spindle Golgi apparatus, trans-Golgi network	Localizes to microtubule plus ends Localizes to centrosomes, kinetochores and the mitotic spindle from prometaphase Subsequently localizes to the spindle midzone from anaphase and to the midbody from telophase In migrating cells localizes to the plus ends of microtubules within the cell body and to the entire microtubule lattice within the lamella Localizes to the cell cortex and this requires ERC1 and PHLDB2
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

15 GO annotations of cellular component

Name	Definition
basal cortex	The region that lies just beneath the plasma membrane on the basal edge of a cell.
cell cortex	The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
centrosomal corona	An amorphous structure surrounding the core of the centrosome, from which microtubules are nucleated; contains gamma-tubulin.
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.
cortical microtubule cytoskeleton	The portion of the microtubule cytoskeleton that lies just beneath the plasma membrane.
cytoplasmic microtubule	Any microtubule in the cytoplasm of a cell.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
kinetochore	A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.
kinetochore microtubule	Any of the spindle microtubules that attach to the kinetochores of chromosomes by their plus ends, and maneuver the chromosomes during mitotic or meiotic chromosome segregation.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.
microtubule organizing center	An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides.
microtubule plus-end	The growing (plus) end of a microtubule. In vitro, microtubules polymerize more quickly at the plus end than at the minus end. In vivo, microtubule growth occurs only at the plus end, and the plus end switches between periods of growth and shortening, a behavior known as dynamic instability.
mitotic spindle	A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules.
spindle microtubule	Any microtubule that is part of a mitotic or meiotic spindle; anchored at one spindle pole.

4 GO annotations of molecular function

Name	Definition
dystroglycan binding	Binding to dystroglycan, a glycoprotein found in non-muscle tissues as well as in muscle tissues, often in association with dystrophin. The native dystroglycan cleaved into two non-covalently associated subunits, alpha (N-terminal) and beta (C-terminal).
kinetochore binding	Binding to a kinetochore, a proteinaceous structure on a condensed chromosome, beside the centromere, to which the spindle fibers are attached.
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.
microtubule plus-end binding	Binding to the plus end of a microtubule.

29 GO annotations of biological process

Name	Definition
astral microtubule organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of astral microtubules, any of the spindle microtubules that radiate in all directions from the spindle poles.
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.
establishment of epithelial cell polarity	The specification and formation of anisotropic intracellular organization of an epithelial cell.
establishment of mitotic spindle localization	The cell cycle process in which the directed movement of the mitotic spindle to a specific location in the cell occurs.
establishment of spindle orientation	Any process that set the alignment of spindle relative to other cellular structures.
establishment or maintenance of cell polarity	Any cellular process that results in the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns.
exit from mitosis	The cell cycle transition where a cell leaves M phase and enters a new G1 phase. M phase is the part of the mitotic cell cycle during which mitosis and cytokinesis take place.
Golgi organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus.
microtubule anchoring	Any process in which a microtubule is maintained in a specific location in a cell.
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.
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).
microtubule organizing center organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a microtubule organizing center, a structure from which microtubules grow.
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.
mitotic spindle organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle.
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.
negative regulation of microtubule polymerization or depolymerization	Any process that stops, prevents, or reduces the frequency, rate or extent of microtubule polymerization or depolymerization.
negative regulation of stress fiber assembly	Any process that stops, prevents, or reduces the frequency, rate or extent of the assembly a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.
negative regulation of wound healing, spreading of epidermal cells	Any process that stops, prevents or reduces the frequency, rate or extent of wound healing, spreading of epidermal cells.
positive regulation of basement membrane assembly involved in embryonic body morphogenesis	Any process that activates or increases the frequency, rate or extent of basement membrane assembly involved in embryonic body morphogenesis.
positive regulation of epithelial cell migration	Any process that activates or increases the frequency, rate or extent of epithelial cell migration.
positive regulation of exocytosis	Any process that activates or increases the frequency, rate or extent of exocytosis.
positive regulation of extracellular matrix disassembly	Any process that increases the rate, frequency or extent of extracellular matrix disassembly. Extracellular matrix disassembly is a process that results in the breakdown of the extracellular matrix.
positive regulation of microtubule polymerization	Any process that activates or increases the frequency, rate or extent of microtubule polymerization.
regulation of epithelial to mesenchymal transition	Any process that modulates the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
regulation of focal adhesion assembly	Any process that modulates the frequency, rate or extent of focal adhesion formation, the establishment and maturation of focal adhesions.
regulation of gastrulation	Any process that modulates the rate or extent of gastrulation. Gastrulation is the complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals.
regulation of microtubule cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.
vesicle targeting	The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo.

7 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P38198	STU1	Protein STU1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q9NBD7	chb	CLIP-associating protein	Drosophila melanogaster (Fruit fly)	SS
O75122	CLASP2	CLIP-associating protein 2	Homo sapiens (Human)	EV
Q8BRT1	Clasp2	CLIP-associating protein 2	Mus musculus (Mouse)	SS
Q80TV8	Clasp1	CLIP-associating protein 1	Mus musculus (Mouse)	SS
Q99JD4	Clasp2	CLIP-associating protein 2	Rattus norvegicus (Rat)	SS
Q6NYW6	clasp2	CLIP-associating protein 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MEPRMESCLA	QVLQKDVGKR	LQVGQELIDY	FSDKQKSADL	EHDQTMLDKL	VDGLATSWVN
70	80	90	100	110	120
SSNYKVVLLG	MDILSALVTR	LQDRFKAQIG	TVLPSLIDRL	GDAKDSVREQ	DQTLLLKIMD
130	140	150	160	170	180
QAANPQYVWD	RMLGGFKHKN	FRTREGICLC	LIATLNASGA	QTLTLSKIVP	HICNLLGDPN
190	200	210	220	230	240
SQVRDAAINS	LVEIYRHVGE	RVRADLSKKG	LPQSRLNVIF	TKFDEVQKSG	NMIQSANDKN
250	260	270	280	290	300
FDDEDSVDGN	RPSSASSTSS	KAPPSSRRNV	GMGTTRRLGS	STLGSKSSAA	KEGAGAVDEE
310	320	330	340	350	360
DFIKAFDDVP	VVQIYSSRDL	EESINKIREI	LSDDKHDWEQ	RVNALKKIRS	LLLAGAAEYD
370	380	390	400	410	420
NFFQHLRLLD	GAFKLSAKDL	RSQVVREACI	TLGHLSSVLG	NKFDHGAEAI	MPTIFNLIPN
430	440	450	460	470	480
SAKIMATSGV	VAVRLIIRHT	HIPRLIPVIT	SNCTSKSVAV	RRRCFEFLDL	LLQEWQTHSL
490	500	510	520	530	540
ERHISVLAET	IKKGIHDADS	EARIEARKCY	WGFHSHFSRE	AEHLYHTLES	SYQKALQSHL
550	560	570	580	590	600
KNSDSIVSLP	QSDRSSSSSQ	ESLNRPLSAK	RSPTGSTTSR	ASTVSTKSVS	TTGSLQRSRS
610	620	630	640	650	660
DIDVNAAASA	KSKVSSSSGT	TPFSSAAALP	PGSYASLGRI	RTRRQSSGSA	TNVASTPDNR
670	680	690	700	710	720
GRSRAKVVSQ	SQRSRSANPA	GAGSRSSSPG	KLLGSGYGGL	TGGSSRGPPV	TPSSEKRSKI
730	740	750	760	770	780
PRSQGCSRET	SPNRIGLARS	SRIPRPSMSQ	GCSRDTSRES	SRDTSPARGF	PPLDRFGLGQ
790	800	810	820	830	840
PGRIPGSVNA	MRVLSTSTDL	EAAVADALKK	PVRRRYEPYG	MYSDDDANSD	ASSVCSERSY
850	860	870	880	890	900
GSRNGGIPHY	LRQTEDVAEV	LNHCASSNWS	ERKEGLLGLQ	NLLKSQRTLS	RVELKRLCEI
910	920	930	940	950	960
FTRMFADPHS	KRVFSMFLET	LVDFIIIHKD	DLQDWLFVLL	TQLLKKMGAD	LLGSVQAKVQ
970	980	990	1000	1010	1020
KALDVTRDSF	PFDQQFNILM	RFIVDQTQTP	NLKVKVAILK	YIESLARQMD	PTDFVNSSET
1030	1040	1050	1060	1070	1080
RLAVSRIITW	TTEPKSSDVR	KAAQIVLISL	FELNTPEFTM	LLGALPKTFQ	DGATKLLHNH
1090	1100	1110	1120	1130	1140
LKNSSNTSVG	SPSNTIGRTP	SRHTSSRTSP	LTSPTNCSHG	GLSPSRLWGW	SADGLAKHPP
1150	1160	1170	1180	1190	1200
PFSQPNSIPT	APSHKALRRS	YSPSMLDYDT	ENLNSEEIYS	SLRGVTEAIE	KFSFRSQEDL
1210	1220	1230	1240	1250	1260
NEPIKRDGKK	ECDIVSRDGG	AASPATEGRG	GSEVEGGRTA	LDNKTSLLNT	QPPRAFPGPR
1270	1280	1290	1300	1310	1320
ARDYNPYPYS	DAINTYDKTA	LKEAVFDDDM	EQLRDVPIDH	SDLVADLLKE	LSNHNERVEE
1330	1340	1350	1360	1370	1380
RKGALLELLK	ITREDSLGVW	EEHFKTILLL	LLETLGDKDH	SIRALALRVL	REILRNQPAR
1390	1400	1410	1420	1430	1440
FKNYAELTIM	KTLEAHKDSH	KEVVRAAEEA	ASTLASSIHP	EQCIKVLCPI	IQTADYPINL
1450	1460	1470	1480	1490	1500
AAIKMQTKVV	ERIAKESLLQ	LLVDIIPGLL	QGYDNTESSV	RKASVFCLVA	IYSVIGEDLK
1510	1520	1530
PHLAQLTGSK	MKLLNLYIKR	AQTTNSNSSS	SSDVSTHS