AiPD: Autoinhibited Protein Database

Q13464

Gene name	ROCK1
Protein name	Rho-associated protein kinase 1
Names	EC 2.7.11.1 , Renal carcinoma antigen NY-REN-35 , Rho-associated, coiled-coil-containing protein kinase 1 , Rho-associated, coiled-coil-containing protein kinase I , ROCK-I , p160 ROCK-1 , p160ROCK
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6093
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class

Descriptions

Rho kinases (ROCKs) are serine/threonine kinases that are involved in many aspects of cell motility, from smooth-muscle contraction to cell migration and neurite outgrowth. ROCK2 contains an N-terminal kinase domain, Rho-binding domain (RBD), and PH domain. RBD and PH domains interact with the catalytic kinase domain for autoinhibition. Rho binding to RBD relieves the autoinhibition.

Autoinhibitory domains (AIDs)

941-1018 (RBD domain) SS

Target domain	91-376 (Catalytic kinase domain)
Relief mechanism	Partner binding
Assay

AID

941-1018 (RBD domain)

Target domain

91-376 (Catalytic kinase domain)

Relief mechanism

Partner binding (Binding of Rho to RBD domain)

Assay

1118-1317 (PH domain) SS

Target domain	91-376 (Catalytic kinase domain)
Relief mechanism	Partner binding
Assay

AID

1118-1317 (PH domain)

Target domain

91-376 (Catalytic kinase domain)

Relief mechanism

Partner binding (Binding of Rho to RBD domain)

Assay

Accessory elements

215-239 (Activation loop from InterPro)

Target domain	76-338 (Protein kinase domain)
Relief mechanism
Assay

References

Riento K et al. (2003) "Rocks: multifunctional kinases in cell behaviour", Nature reviews. Molecular cell biology, 4, 446-56

Amano M et al. (1999) "The COOH terminus of Rho-kinase negatively regulates rho-kinase activity", The Journal of biological chemistry, 274, 32418-24

Chen XQ et al. (2002) "Characterization of RhoA-binding kinase ROKalpha implication of the pleckstrin homology domain in ROKalpha function using region-specific antibodies", The Journal of biological chemistry, 277, 12680-8

Leung T et al. (1996) "The p160 RhoA-binding kinase ROK alpha is a member of a kinase family and is involved in the reorganization of the cytoskeleton", Molecular and cellular biology, 16, 5313-27

Autoinhibited structure

Activated structure

32 structures for Q13464

Entry ID	Method	Resolution	Chain	Position	Source
1S1C	X-ray	260 A	X/Y	947-1015	PDB
2ESM	X-ray	320 A	A/B	6-415	PDB
2ETK	X-ray	296 A	A/B	6-415	PDB
2ETR	X-ray	260 A	A/B	6-415	PDB
2V55	X-ray	370 A	A/C	1-406	PDB
3D9V	X-ray	330 A	A/B	6-415	PDB
3NCZ	X-ray	300 A	A/B/C/D	6-415	PDB
3NDM	X-ray	330 A	A/B/C/D	6-415	PDB
3O0Z	X-ray	233 A	A/B/C/D	535-700	PDB
3TV7	X-ray	275 A	A/B/C/D	6-415	PDB
3TWJ	X-ray	290 A	A/B/C/D	6-415	PDB
3V8S	X-ray	229 A	A/B/C/D	6-415	PDB
4L2W	X-ray	249 A	A/B/C/D	834-914	PDB
4W7P	X-ray	280 A	A/B/C/D	2-410	PDB
4YVC	X-ray	320 A	A/B	6-415	PDB
4YVE	X-ray	340 A	A/B	6-415	PDB
5BML	X-ray	295 A	A/B	6-415	PDB
5F5P	X-ray	357 A	C/D/E/F	834-913	PDB
5HVU	X-ray	280 A	A/B	6-415	PDB
5KKS	X-ray	330 A	A/B	6-415	PDB
5KKT	X-ray	280 A	A/B	6-415	PDB
5UZJ	X-ray	330 A	A/B	6-415	PDB
5WNE	X-ray	260 A	A/B/C/D	6-415	PDB
5WNF	X-ray	245 A	A/B/C/D	6-415	PDB
5WNG	X-ray	290 A	A/B/C/D	6-415	PDB
5WNH	X-ray	310 A	A/B/C/D	6-415	PDB
6E9W	X-ray	296 A	A/B	6-415	PDB
7JOU	X-ray	332 A	A	6-415	PDB
7S25	X-ray	234 A	A/B/C/D	7-402	PDB
7S26	X-ray	274 A	A/B/C/D	6-402	PDB
8P0S	X-ray	220 A	A/B	420-550	PDB
AF-Q13464-F1	Predicted				AlphaFoldDB

1097 variants for Q13464

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1057520015 CA16603116 VAR_041058 COSM12909 RCV000444518 RCV000424675	1193	P>S	lung Variant assessed as Somatic; MODERATE impact. Lung carcinoma Breast neoplasm a lung neuroendocrine carcinoma sample; somatic mutation [Cosmic, NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs376919635	6	S>G		No	ESP TOPMed
rs1232353989	9	T>A		No	TOPMed gnomAD
rs2036745222	9	T>S		No	Ensembl
TCGA novel	10	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1367110440	10	R>G		No	gnomAD
TCGA novel	11	F>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2036745153	13	K>T		No	Ensembl
rs2143615761	14	M>I		No	Ensembl
rs1598567172	15	D>V		No	Ensembl
rs2036745080	16	N>D		No	TOPMed
rs148393559	16	N>S		No	ExAC TOPMed gnomAD
rs755478315	19	R>G		No	ExAC gnomAD
rs1568413235	19	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs780554862	22	K>R		No	ExAC TOPMed gnomAD
rs780554862	22	K>T		No	ExAC TOPMed gnomAD
TCGA novel	23	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs750014422	26	N>S		No	ExAC gnomAD
COSM257912 rs750014422	26	N>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC gnomAD
rs1162660649	29	C>S		No	TOPMed
TCGA novel	32	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1598551564	38	V>A		No	gnomAD
rs1598551564	38	V>G		No	gnomAD
COSM6148179	38	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs752596576	39	Y>C		No	ExAC gnomAD
rs1306328046	43	F>C		No	gnomAD
TCGA novel	46	L>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2036375296	48	K>R		No	Ensembl
rs1598551553	50	K>N		No	TOPMed
COSM2884799	50	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs368128682	54	N>K		No	ESP TOPMed
rs1429314105	57	S>N		No	gnomAD
rs766155887	57	S>R		No	ExAC gnomAD
rs753548658	59	Y>*		No	ExAC
rs1317001172	59	Y>C		No	TOPMed gnomAD
rs1187303844	61	D>G		No	TOPMed gnomAD
rs559605041	63	I>L		No	1000Genomes TOPMed
rs559605041	63	I>V		No	1000Genomes TOPMed
TCGA novel	64	N>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM986905 rs763280401	65	K>E	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM986904	65	K>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3422078	65	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM986903 rs1474823422	70	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed
rs775572472	73	A>V		No	ExAC gnomAD
rs1181890495	74	E>K		No	TOPMed
COSM986902	75	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1303599	77	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2036189695	80	K>N		No	Ensembl
rs760073687	81	V>M		No	ExAC gnomAD
rs1415552718	82	I>V		No	TOPMed gnomAD
rs1324486160	91	Q>*		No	gnomAD
COSM263411	96	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1246613751 COSM3524381	97	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed
rs1384446395	99	R>G		No	gnomAD
rs752918923	99	R>K		No	ExAC TOPMed gnomAD
TCGA novel rs2036184523	104	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
TCGA novel	104	M>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1288764125	106	L>R		No	gnomAD
VAR_041055 rs55811609	108	S>N		No	UniProt Ensembl dbSNP
rs1228926081	108	S>R		No	gnomAD
COSM3422077	109	K>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs144230183	110	F>L		No	ESP ExAC TOPMed gnomAD
rs888979516	110	F>S		No	TOPMed gnomAD
rs1360949293	113	I>T		No	gnomAD
rs1352299993	116	S>Y		No	gnomAD
rs1568394841	117	D>A		No	Ensembl
rs1204631834	118	S>T		No	TOPMed
TCGA novel	122	W>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM1387938 rs35810558	122	W>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1286506533	126	D>E		No	TOPMed gnomAD
rs759571711	126	D>G		No	ExAC gnomAD
rs1598543517	126	D>H		No	Ensembl
COSM6082303	128	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM986901	129	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2036183997	131	A>T		No	TOPMed
rs1444188570	132	N>S		No	TOPMed gnomAD
rs2036183908	136	V>I		No	Ensembl
COSM6148180	138	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2143510368	140	F>L		No	Ensembl
TCGA novel	141	Y>M	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2143510366	142	A>V		No	Ensembl
rs765332481	147	R>C		No	ExAC TOPMed gnomAD
rs755247871	147	R>H		No	ExAC TOPMed gnomAD
rs765332481	147	R>S		No	ExAC TOPMed gnomAD
rs373470129	156	M>L		No	ESP ExAC TOPMed gnomAD
rs749921361	157	P>A		No	Ensembl
rs2143510300	158	G>S		No	Ensembl
rs2143510290	160	D>H		No	Ensembl
rs1309442093	167	N>K		No	gnomAD
rs762044584	167	N>S		No	ExAC TOPMed gnomAD
COSM3821215	170	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2036147006	170	V>M		No	TOPMed
COSM1471133	172	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	173	K>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs774801257	174	W>G		No	ExAC
rs2143510260	174	W>S		No	Ensembl
rs768138112	176	R>*		No	ExAC gnomAD
rs748975520	176	R>P		No	ExAC TOPMed gnomAD
rs748975520	176	R>Q		No	ExAC TOPMed gnomAD
rs2143510248	177	F>I		No	Ensembl
rs1462803074	178	Y>C		No	gnomAD
rs2143510239	179	T>S		No	Ensembl
rs2143510225	182	V>E		No	Ensembl
rs1164127550	183	V>I		No	TOPMed gnomAD
TCGA novel	185	A>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	185	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2036146642	187	D>H		No	Ensembl
rs1260755352	188	A>T		No	TOPMed
rs1418105141	189	I>T		No	gnomAD
rs190442965	189	I>V		No	1000Genomes ExAC gnomAD
rs781315375	190	H>N		No	ExAC
rs1250284197	191	S>F		No	gnomAD
rs757245818	192	M>V		No	ExAC gnomAD
rs746730014	195	I>V		No	ExAC TOPMed gnomAD
TCGA novel	196	H>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1303598	196	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1386999183	199	V>M		No	gnomAD
TCGA novel	202	D>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1460651940	208	K>T		No	TOPMed gnomAD
rs1348324643	209	S>C		No	gnomAD
rs1236695610	209	S>T		No	gnomAD
rs1328178023	215	A>G		No	gnomAD
COSM6082304	216	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2036134943	221	M>V		No	TOPMed
rs2271255	222	K>E		No	ExAC TOPMed gnomAD
rs1382121618	223	M>R		No	TOPMed gnomAD
rs1382121618	223	M>T		No	TOPMed gnomAD
rs2143508174	224	N>T		No	Ensembl
rs1325681285	228	M>T		No	TOPMed
rs2036117591	230	R>Q		No	TOPMed
COSM6082305	233	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs746157131	233	T>I		No	ExAC gnomAD
rs1208264884	233	T>S		No	gnomAD
COSM4071440	234	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1233440092	238	P>L		No	gnomAD
rs367576169	238	P>T		No	ESP TOPMed
rs866756000	242	S>F		No	Ensembl
TCGA novel	242	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	243	P>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2036117134	243	P>L		No	TOPMed
rs2143505007	244	E>K		No	Ensembl
rs1297278320	252	D>N		No	TOPMed gnomAD
rs1443835270	252	D>V		No	gnomAD
rs761674344	253	G>S		No	Ensembl
TCGA novel	253	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1249826232	254	Y>C		No	TOPMed
rs1356668879	257	R>K		No	gnomAD
COSM4071439	258	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs778302279	258	E>D		No	ExAC gnomAD
TCGA novel	261	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	264	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1598540417	266	V>G		No	Ensembl
rs2036116672	266	V>I		No	Ensembl
TCGA novel	266	V>Y	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM1387937	268	L>Y	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1224116	270	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2036116447	273	V>L		No	TOPMed
rs2143504281	275	D>G		No	Ensembl
rs779402058	276	T>A		No	ExAC gnomAD
rs1254579506	279	Y>C		No	gnomAD
rs2036113287	280	A>S		No	Ensembl
rs2036113163	287	Y>C		No	Ensembl
rs754189183	288	S>G		No	ExAC gnomAD
rs766011870	289	K>R		No	ExAC gnomAD
rs2036113003	291	M>L		No	TOPMed
rs1316981358	292	N>K		No	gnomAD
rs531125197	294	K>R		No	1000Genomes ExAC TOPMed
rs2036112919	295	N>I		No	TOPMed
COSM4071438	295	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1283187603	296	S>L		No	TOPMed gnomAD
rs749882857	297	L>V		No	ExAC TOPMed gnomAD
rs2036112795	298	T>S		No	Ensembl
rs2036112767	300	P>A		No	TOPMed
rs1043403032	305	I>V		No	TOPMed gnomAD
COSM1303597	306	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1306022632	306	S>T		No	gnomAD
rs1442069855	307	K>E		No	gnomAD
rs2036112646	307	K>T		No	TOPMed
rs778180760	308	E>D		No	TOPMed gnomAD
rs767083426	308	E>K		No	ExAC gnomAD
rs1345806861	309	A>E		No	gnomAD
rs1433055797	309	A>S		No	TOPMed gnomAD
rs1433055797	309	A>T		No	TOPMed gnomAD
rs199503927	310	K>R		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	311	N>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2036112463	312	L>F		No	TOPMed gnomAD
rs370777021	315	A>T		No	ESP ExAC TOPMed gnomAD
rs1396681650	315	A>V		No	gnomAD
rs1423054164	319	D>N		No	TOPMed gnomAD
rs2036112254	319	D>V		No	TOPMed gnomAD
rs2143499582	320	R>S		No	Ensembl
rs2143499580	321	E>*		No	Ensembl
rs2143499571	321	E>D		No	Ensembl
rs2143499580	321	E>K		No	Ensembl
rs2143499580	321	E>Q		No	Ensembl
rs2143499576	321	E>V		No	Ensembl
rs1257863230	322	V>E		No	TOPMed gnomAD
rs2143499564	322	V>L		No	Ensembl
rs2143499550	323	R>K		No	Ensembl
rs1486465646	323	R>S		No	TOPMed
rs2143499553	323	R>W		No	Ensembl
rs2143499540	324	L>I		No	Ensembl
TCGA novel	324	L>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2143499540	324	L>V		No	Ensembl
rs2143499518	325	G>E		No	Ensembl
rs2143499518	325	G>V		No	Ensembl
rs2143499525	325	G>W		No	Ensembl
rs2036087029	326	R>*		No	Ensembl
rs2036087029	326	R>G		No	Ensembl
rs370467228	326	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs370467228	326	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2143499490	327	N>K		No	Ensembl
rs2143499496	327	N>Y		No	Ensembl
rs2036086958	328	G>C		No	TOPMed
rs2143499477	328	G>V		No	Ensembl
rs2143499467	329	V>E		No	Ensembl
rs2143499467	329	V>G		No	Ensembl
rs765005408	329	V>I		No	ExAC TOPMed gnomAD
rs765005408	329	V>L		No	ExAC TOPMed gnomAD
TCGA novel rs2143499459	330	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2143499453	330	E>V		No	Ensembl
rs2143499446 COSM1387936	331	E>*	Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2143499446	331	E>K		No	Ensembl
rs2143499446	331	E>Q		No	Ensembl
rs2143499442	332	I>N		No	Ensembl
rs2143499430	333	K>E		No	Ensembl
rs760935374	333	K>I		No	ExAC gnomAD
rs2143499417	333	K>N		No	Ensembl
rs760935374	333	K>R		No	ExAC gnomAD
rs760935374	333	K>T		No	ExAC gnomAD
rs2143499408	334	R>*		No	Ensembl
rs2143499408	334	R>G		No	Ensembl
COSM3821214 rs1308645753	334	R>L	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated gnomAD
rs1308645753	334	R>P		No	gnomAD
COSM986900 rs1308645753	334	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs2143499384	335	H>D		No	Ensembl
rs2143499380	335	H>L		No	Ensembl
rs2036086854	335	H>Q		No	TOPMed
rs2143499384	335	H>Y		No	Ensembl
rs1278085853	336	L>F		No	gnomAD
rs1278085853	336	L>I		No	gnomAD
rs1278085853	336	L>V		No	gnomAD
rs2143499358	337	F>L		No	Ensembl
rs2143499352	338	F>I		No	Ensembl
rs2143499335	338	F>L		No	Ensembl
rs2143499349	338	F>Y		No	Ensembl
rs2143499330	339	K>Q		No	Ensembl
rs2036086792	339	K>R		No	TOPMed
rs2143499310	340	N>I		No	Ensembl
rs2143499298	341	D>A		No	Ensembl
rs2143499291	341	D>E		No	Ensembl
rs2143499298	341	D>G		No	Ensembl
rs2143499303	341	D>H		No	Ensembl
rs2143499303	341	D>N		No	Ensembl
rs2143499298	341	D>V		No	Ensembl
rs2036086720	342	Q>E		No	TOPMed
rs1357430004	342	Q>H		No	gnomAD
rs2036086685	342	Q>L		No	TOPMed
rs2143499262	343	W>*		No	Ensembl
rs2143499255	343	W>*		No	Ensembl
rs2143499255	343	W>C		No	Ensembl
rs2143499268	343	W>G		No	Ensembl
rs2143499268	343	W>R		No	Ensembl
rs2143499247	344	A>P		No	Ensembl
rs2143499247	344	A>S		No	Ensembl
rs2143499247	344	A>T		No	Ensembl
rs2143499225	345	W>*		No	Ensembl
rs2143499235	345	W>*		No	Ensembl
rs2143499225	345	W>C		No	Ensembl
rs2143499235	345	W>L		No	Ensembl
rs2143499215	346	E>*		No	Ensembl
rs2143499202	346	E>D		No	Ensembl
rs2143499215	346	E>Q		No	Ensembl
rs1294148497	347	T>A		No	gnomAD
rs113763420	347	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1294148497	347	T>P		No	gnomAD
rs1294148497	347	T>S		No	gnomAD
rs2143499153	348	L>H		No	Ensembl
rs2143499153	348	L>P		No	Ensembl
rs2143499162	348	L>V		No	Ensembl
rs1299620456	349	R>*		No	gnomAD
rs1299620456	349	R>G		No	gnomAD
rs2143499122	349	R>L		No	Ensembl
rs2143499122	349	R>P		No	Ensembl
rs2143499122	349	R>Q		No	Ensembl
COSM986899	350	D>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs769219889	350	D>A		No	ExAC gnomAD
rs2143499087	350	D>E		No	Ensembl
rs769219889	350	D>G		No	ExAC gnomAD
rs2143499102	350	D>H		No	Ensembl
rs2143499102	350	D>N		No	Ensembl
rs769219889	350	D>V		No	ExAC gnomAD
rs2143499076	351	T>A		No	Ensembl
rs2143499076	351	T>S		No	Ensembl
rs111874856	355	V>I		No	Ensembl
TCGA novel rs2035983778	356	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs946704802	356	V>I		No	TOPMed gnomAD
rs946704802	356	V>L		No	TOPMed gnomAD
rs569522637 COSM986898	358	D>N	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs775903956	363	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2143479072	364	D>H		No	Ensembl
rs746181548	365	T>I		No	ExAC TOPMed gnomAD
rs746181548	365	T>S		No	ExAC TOPMed gnomAD
rs1470182052	367	N>H		No	gnomAD
TCGA novel	367	N>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs939461469	374	D>H		No	TOPMed gnomAD
rs2035983368	379	E>A		No	gnomAD
TCGA novel	383	I>F	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1364395121	383	I>V		No	TOPMed gnomAD
rs746727292	388	V>A		No	ExAC gnomAD
rs2035983234 COSM986897	388	V>I	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs2143478981	389	G>D		No	Ensembl
rs2035983060	393	P>H		No	Ensembl
rs2035983083	393	P>S		No	Ensembl
rs1408071482	398	T>S		No	TOPMed gnomAD
rs200082412	400	Y>C		No	ExAC TOPMed gnomAD
rs1450239070	400	Y>H		No	TOPMed gnomAD
rs1387994889	401	S>G		No	gnomAD
rs1442805929	401	S>N		No	gnomAD
rs2035982746	402	N>S		No	TOPMed
COSM287165 rs778669551	403	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM708348 rs374052961	403	R>H	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs2035982637	404	R>T		No	TOPMed
COSM6003264	407	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs779976287	407	S>F		No	ExAC gnomAD
rs770493431	407	S>P		No	ExAC TOPMed gnomAD
rs756016358	409	A>G		No	ExAC TOPMed gnomAD
rs1307758569	409	A>P		No	TOPMed
rs1307758569	409	A>T		No	TOPMed
rs756016358	409	A>V		No	ExAC TOPMed gnomAD
rs1318771658	410	N>S		No	TOPMed gnomAD
rs1214752558	411	P>L		No	TOPMed
rs2143469060	412	N>H		No	Ensembl
rs2035932885	413	D>G		No	Ensembl
COSM986896	415	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1251000219	416	T>S		No	TOPMed gnomAD
rs2035932814	418	S>A		No	TOPMed
rs1285513741	418	S>Y		No	TOPMed
rs2035932783	419	N>S		No	TOPMed
rs942018868	420	A>G		No	TOPMed gnomAD
rs750276864	420	A>T		No	ExAC TOPMed gnomAD
TCGA novel	420	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs764171274	422	K>T		No	ExAC gnomAD
rs1236290141	423	S>T		No	TOPMed
TCGA novel	425	Q>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1399338403	425	Q>R		No	gnomAD
rs1172001094	426	E>G		No	gnomAD
rs1421493295	427	S>N		No	gnomAD
rs1365075417	431	T>K		No	Ensembl
TCGA novel	431	T>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	431	T>Q	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs45449301	432	I>V		No	ESP ExAC TOPMed gnomAD
TCGA novel	433	Y>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2035902572	433	Y>C		No	gnomAD
rs2035902609	433	Y>D		No	Ensembl
rs2143462732	434	K>N		No	Ensembl
rs1473221559	438	Q>E		No	TOPMed gnomAD
rs1473221559	438	Q>K		No	TOPMed gnomAD
rs2035902543	439	L>V		No	TOPMed
rs781042450	443	M>I		No	ExAC gnomAD
rs138275219	447	D>G		No	ESP ExAC TOPMed gnomAD
rs753021374	450	E>A		No	ExAC gnomAD
rs1426648937	455	T>A		No	TOPMed
rs1310390670	455	T>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs779065657	457	N>D		No	ExAC gnomAD
rs1349304126	458	I>M		No	gnomAD
rs755207685	458	I>V		No	ExAC TOPMed gnomAD
rs2035854589	460	L>V		No	TOPMed gnomAD
rs751208489	463	I>L		No	Ensembl
rs2143453550	464	M>K		No	Ensembl
COSM986895	466	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1321863436	468	D>E		No	gnomAD
rs1568383969	469	E>D		No	Ensembl
rs2143440619	471	G>E		No	Ensembl
rs1282133822	471	G>R		No	TOPMed gnomAD
rs1355190267	472	N>S		No	TOPMed
TCGA novel	473	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1297802793	478	E>A		No	gnomAD
rs1417643587	478	E>D		No	gnomAD
rs1376981787	479	S>Y		No	gnomAD
rs768863004	480	T>A		No	ExAC gnomAD
rs1422952397	480	T>K		No	gnomAD
rs768863004	480	T>S		No	ExAC gnomAD
rs1187805562	481	V>M		No	TOPMed gnomAD
COSM708349	483	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2035784434	484	I>N		No	TOPMed
rs2035784366	485	E>A		No	Ensembl
rs756261380	485	E>K		No	ExAC gnomAD
rs1487530154	486	K>R		No	TOPMed gnomAD
rs1185492252	487	E>D		No	TOPMed
rs1486716969	487	E>G		No	TOPMed
rs2035784246	488	K>N		No	Ensembl
rs745969192	489	M>V		No	ExAC gnomAD
rs2035784136	492	Q>R		No	Ensembl
rs1470637770	493	H>R		No	TOPMed
TCGA novel	494	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs773057982	494	R>T		No	Ensembl
rs2143440457	495	I>S		No	1000Genomes
rs2035783944	496	N>S		No	gnomAD
rs1160474243	497	E>D		No	Ensembl
rs751904234	499	Q>K		No	ExAC gnomAD
TCGA novel	500	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1333460384	500	R>K		No	gnomAD
rs2035783783	502	A>T		No	gnomAD
rs1277807565	506	N>I		No	gnomAD
rs1398344936	507	E>D		No	gnomAD
rs1381106504	508	K>N		No	gnomAD
rs1303265568	509	R>K		No	gnomAD
rs1706029212	510	R>G		No	TOPMed
rs1400930220	511	N>H		No	Ensembl
COSM4071435	512	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2035772692	518	T>A		No	gnomAD
TCGA novel	522	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	522	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1196903743	527	K>N		No	gnomAD
rs747572711	531	Q>E		No	ExAC gnomAD
rs2035772491	532	N>S		No	Ensembl
rs1244252271	535	L>H		No	TOPMed gnomAD
TCGA novel	546	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2035770922	547	L>V		No	gnomAD
COSM4071434	548	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2035770867	548	E>K		No	Ensembl
COSM4071433	549	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs748463799	551	N>S		No	ExAC TOPMed gnomAD
COSM473655	553	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1360218105	555	R>G		No	gnomAD
COSM6148181	555	R>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2035770710	556	T>I		No	Ensembl
rs2143437695	557	E>K		No	Ensembl
COSM3524378	558	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2143437685 COSM563109	558	S>L	lung [Cosmic]	No	cosmic curated Ensembl
rs1378684884	559	D>H		No	gnomAD
TCGA novel	561	A>D	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2143437662	562	V>I		No	Ensembl
rs1220750285	565	R>K		No	TOPMed gnomAD
rs2143437629	565	R>S		No	Ensembl
rs1479489649	567	S>R		No	TOPMed gnomAD
rs1210791781	570	E>Q		No	TOPMed
rs1487856294	572	S>G		No	TOPMed gnomAD
rs1198726276	572	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1477848980	574	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2143437546	574	S>T		No	Ensembl
TCGA novel	575	I>V	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1345685674	575	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2143437520	576	S>I		No	Ensembl
COSM4827001	577	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs749962882	577	Q>H		No	ExAC gnomAD
rs1230515235	578	L>S		No	gnomAD
rs2035770041	579	E>K		No	TOPMed
rs2035770041	579	E>Q		No	TOPMed
rs2143437472	580	S>T		No	Ensembl
COSM1480238	581	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1421004485	583	R>G		No	TOPMed gnomAD
rs374537871	586	Q>L		No	ExAC gnomAD
rs1292633146	587	E>D		No	TOPMed
rs763850194	589	N>S		No	ExAC TOPMed gnomAD
rs188053260	590	R>*		No	1000Genomes ExAC gnomAD
rs188053260	590	R>G		No	1000Genomes ExAC gnomAD
rs141266099 COSM986894	590	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs2143437342	593	E>D		No	Ensembl
rs2143437335	595	S>C		No	Ensembl
rs2035769685	596	K>E		No	TOPMed
TCGA novel	596	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2143437293	597	S>L		No	Ensembl
rs2035769654	597	S>L		No	Ensembl
rs2143437302	597	S>T		No	Ensembl
rs2035769606	598	Q>L		No	Ensembl
COSM4923087	600	D>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs773437034	600	D>G		No	ExAC TOPMed
rs1425811256	601	K>E		No	gnomAD
rs1385026867	601	K>R		No	TOPMed gnomAD
rs2143437235	602	D>H		No	Ensembl
rs531292167	602	D>V		No	1000Genomes ExAC gnomAD
rs2035769412	604	Y>H		No	gnomAD
COSM437951	605	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2035769384	605	Q>H		No	Ensembl
rs768941730	607	Q>H		No	ExAC gnomAD
rs1189443782	608	A>S		No	gnomAD
rs1189443782	608	A>T		No	gnomAD
rs1442779589	608	A>V		No	gnomAD
rs1198594955	609	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1255408562	609	I>V		No	TOPMed gnomAD
rs200675525	612	A>G		No	TOPMed gnomAD
rs200675525	612	A>V		No	TOPMed gnomAD
TCGA novel rs2035769000	614	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1258090880	614	R>Q		No	gnomAD
rs1217450508	616	D>G		No	gnomAD
rs2035768935	616	D>Y		No	Ensembl
rs2143437089	617	R>K		No	Ensembl
rs2143437089	617	R>T		No	Ensembl
rs779527094	618	G>A		No	ExAC gnomAD
rs779527094	618	G>D		No	ExAC gnomAD
rs749695186	618	G>S		No	ExAC TOPMed gnomAD
rs2035768784	620	D>H		No	Ensembl
rs749871117	622	E>A		No	ExAC gnomAD
rs2143437047	622	E>K		No	Ensembl
rs899089436	623	M>T		No	TOPMed
rs562631096	624	I>T		No	1000Genomes
rs543651511	626	D>E		No	1000Genomes
TCGA novel rs2143437019	626	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1245714314	627	L>H		No	TOPMed gnomAD
rs2035768558	629	A>T		No	gnomAD
rs1163117060	630	R>L		No	TOPMed gnomAD
COSM986893 rs1163117060	630	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed gnomAD
rs1394015996	631	I>S		No	TOPMed
rs2035638962	634	L>S		No	TOPMed gnomAD
COSM986892	635	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1598520651	638	V>M		No	Ensembl
rs749561905	640	H>L		No	ExAC gnomAD
rs1325813196	640	H>Q		No	TOPMed gnomAD
rs2035638846	640	H>Y		No	Ensembl
rs1013980231	643	H>R		No	TOPMed gnomAD
rs769435215	644	N>S		No	ExAC gnomAD
rs769435215	644	N>T		No	ExAC gnomAD
rs745575137	645	L>F		No	ExAC gnomAD
rs745575137	645	L>V		No	ExAC gnomAD
rs2035638475	646	E>K		No	TOPMed
rs1380857718	647	K>R		No	gnomAD
rs1177857096	650	G>R		No	gnomAD
rs368243440	654	E>D		No	ESP ExAC TOPMed gnomAD
rs1333713013	655	A>G		No	TOPMed
rs1247893295	656	Q>E		No	gnomAD
COSM4770779	656	Q>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs375220200	660	N>I		No	ESP TOPMed gnomAD
rs375220200	660	N>S		No	ESP TOPMed gnomAD
rs149078118	661	H>R		No	ESP TOPMed
TCGA novel	665	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM2884753 rs770190015	666	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1341333000	666	K>R		No	TOPMed gnomAD
rs2035623758	669	L>S		No	Ensembl
rs1428376870	671	I>V		No	gnomAD
COSM263410	672	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs745487549	673	L>*		No	ExAC gnomAD
TCGA novel	674	N>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1169077835	674	N>S		No	TOPMed gnomAD
rs2035623634	675	Y>C		No	TOPMed
rs770636388	676	K>N		No	ExAC gnomAD
TCGA novel	676	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	677	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1426544527	678	K>E		No	gnomAD
rs2035623498	679	S>*		No	Ensembl
rs2035623498	679	S>L		No	Ensembl
rs748173983	683	R>L		No	ExAC TOPMed
rs748173983	683	R>Q		No	ExAC TOPMed
rs112255811	683	R>W		No	ESP ExAC TOPMed gnomAD
rs1485063243	685	E>G		No	TOPMed gnomAD
rs1186371094	685	E>Q		No	TOPMed gnomAD
rs2035623089	686	Q>R		No	gnomAD
TCGA novel	687	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2035623065	687	E>Q		No	gnomAD
rs1900524350	687	E>V		No	TOPMed
rs2143407835	688	V>L		No	Ensembl
rs2035622992	691	H>R		No	Ensembl
COSM986891	693	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1211391200	694	T>I		No	gnomAD
rs2035622874	695	K>I		No	Ensembl
rs1261388376 COSM708350	696	A>T	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1220509028	697	R>C		No	TOPMed gnomAD
rs767793486	697	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2035622637	699	T>I		No	TOPMed
rs577130897	701	K>R		No	1000Genomes ExAC TOPMed gnomAD
COSM284665	701	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs751589454	702	H>R		No	ExAC gnomAD
rs764295785 COSM4830620	703	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs141205624	703	Q>H		No	ESP ExAC TOPMed gnomAD
COSM986890 rs367961522	705	I>F	endometrium [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1327188223	705	I>T		No	TOPMed
rs367961522	705	I>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2143407668	709	K>Q		No	Ensembl
rs1244749018	711	V>M		No	gnomAD
rs764882019	712	A>S		No	TOPMed gnomAD
rs764882019	712	A>T		No	TOPMed gnomAD
COSM708351 rs1167795576	713	M>I	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated gnomAD NCI-TCGA Cosmic
rs765761803	713	M>V		No	ExAC TOPMed gnomAD
TCGA novel	716	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2035584980	716	M>T		No	Ensembl
rs757411079	717	E>G		No	ExAC TOPMed gnomAD
rs1350074233	717	E>K		No	gnomAD
rs1303831515	719	K>R		No	TOPMed
COSM5519545 rs1444380583	719	K>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1367590040	723	E>*		No	TOPMed gnomAD
rs751860870	724	R>K		No	ExAC gnomAD
rs2143398415	725	E>Q		No	Ensembl
rs777680987	726	A>S		No	ExAC gnomAD
rs2143398404	727	R>*		No	Ensembl
rs2143398399	727	R>Q		No	Ensembl
rs2143398389	730	A>G		No	Ensembl
rs2143398382	731	E>K		No	Ensembl
rs758460807	732	N>D		No	ExAC gnomAD
rs752794813	732	N>S		No	ExAC gnomAD
rs1266257853	733	R>L		No	gnomAD
rs1266257853	733	R>Q		No	gnomAD
rs765671790	733	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs2143398346	735	V>I		No	Ensembl
rs868823266	736	Q>*		No	Ensembl
rs1430634327	737	I>S		No	TOPMed gnomAD
rs1430634327	737	I>T		No	TOPMed gnomAD
rs1327345596	740	Q>E		No	TOPMed gnomAD
rs977424455	740	Q>R		No	TOPMed gnomAD
rs2035584260	741	C>R		No	TOPMed gnomAD
rs2143398309	741	C>Y		No	Ensembl
rs2035584193	743	M>L		No	Ensembl
rs2035584126	746	V>I		No	TOPMed
rs1388001664	748	L>M		No	gnomAD
rs917291280	749	K>R		No	TOPMed gnomAD
rs2035584007	750	Q>E		No	Ensembl
rs199724300	751	S>C		No	Ensembl
rs2035583955	753	Q>R		No	Ensembl
rs774004449	754	K>E		No	ExAC gnomAD
rs959206038	755	L>V		No	TOPMed gnomAD
rs2035583828	756	E>G		No	TOPMed
rs374447967	757	H>D		No	ESP ExAC TOPMed gnomAD
rs374447967	757	H>Y		No	ESP ExAC TOPMed gnomAD
rs2035583747	759	T>A		No	TOPMed
rs140304238	760	G>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1363696443	760	G>R		No	gnomAD
rs1268337152	761	N>S		No	TOPMed gnomAD
rs533072462	764	R>K		No	1000Genomes ExAC gnomAD
rs2035583458	765	M>T		No	gnomAD
rs777999804	765	M>V		No	ExAC gnomAD
rs2035583428	766	E>G		No	gnomAD
COSM986889	767	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4071431	768	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	770	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs368848204	772	L>V		No	ESP ExAC gnomAD
rs45562542	773	T>I		No	1000Genomes ESP ExAC TOPMed gnomAD
VAR_041056 rs45562542 RCV000958439	773	T>S		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1407435457	776	L>M		No	gnomAD
rs2035560744	778	Q>R		No	Ensembl
rs1303705095	781	N>D		No	TOPMed
rs1426065333	782	K>R		No	gnomAD
rs202021324	783	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs778941061	783	R>W		No	ExAC gnomAD
rs1189334548	785	L>V		No	gnomAD
rs1445209379	787	Q>E		No	TOPMed gnomAD
rs1410523802	788	N>S		No	TOPMed gnomAD
rs148551651	790	L>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs148551651	790	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs768055546	791	K>N		No	ExAC gnomAD
rs111312709	792	T>A		No	Ensembl
rs1258313235	796	E>K		No	gnomAD
rs144779065	797	A>T		No	ESP
rs1298509732	798	D>H		No	Ensembl
rs1344919654	799	N>D		No	TOPMed gnomAD
rs763866091	799	N>I		No	ExAC TOPMed gnomAD
rs763866091	799	N>S		No	ExAC TOPMed gnomAD
TCGA novel	802	G>V	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1489031567	803	L>S		No	TOPMed gnomAD
rs929548160	803	L>V		No	TOPMed gnomAD
TCGA novel	804	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2143393441	804	E>V		No	Ensembl
rs1210017063	807	M>I		No	TOPMed gnomAD
rs2035559751	810	E>A		No	TOPMed gnomAD
rs1254493410	813	T>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
COSM3524377	814	L>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2035559643	814	L>V		No	Ensembl
rs1314891714	815	L>S		No	gnomAD
rs765152877	816	E>G		No	ExAC gnomAD
rs774873448	816	E>K		No	ExAC gnomAD
rs765152877	816	E>V		No	ExAC gnomAD
TCGA novel	818	K>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs759457359	819	R>G		No	ExAC gnomAD
COSM986888	822	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs149411979	827	Q>R		No	ESP ExAC TOPMed gnomAD
COSM4071428	828	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1430204451	828	L>I		No	Ensembl
rs2035559389	828	L>P		No	Ensembl
rs372187123 COSM986887	829	T>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1394566001	829	T>M		No	gnomAD
rs923558041	830	K>E		No	TOPMed
rs1205351781	831	Q>H		No	gnomAD
rs1311419152	832	Y>H		No	TOPMed gnomAD
COSM4071427	834	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3770124	834	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2035545156	835	N>D		No	Ensembl
rs766334829	837	G>A		No	ExAC
rs1687005787	838	Q>R		No	Ensembl
rs2035545026	839	M>I		No	TOPMed
rs760406185	839	M>T		No	ExAC TOPMed gnomAD
rs763144767	840	R>L		No	ExAC gnomAD
COSM986886 rs763144767	840	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs371191768	840	R>W		No	ExAC TOPMed gnomAD
TCGA novel	841	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2035544856	843	Q>R		No	TOPMed
rs1022423583	846	L>V		No	TOPMed
rs2035544676	849	E>K		No	TOPMed
rs1348552026	851	Y>C		No	gnomAD
rs1276866186	852	F>L		No	gnomAD
rs781743894	853	S>L		No	ExAC gnomAD
COSM4932455	854	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1389513777	854	T>I		No	TOPMed gnomAD
rs2035516027	859	Q>E		No	TOPMed
rs1224194321	859	Q>H		No	TOPMed gnomAD
rs2035515915	860	V>A		No	TOPMed gnomAD
rs1323165216	860	V>L		No	gnomAD
rs1216110229	864	K>R		No	gnomAD
rs1362348199	867	I>V		No	gnomAD
rs2035515670	869	E>G		No	TOPMed
rs756516612	869	E>K		No	gnomAD
TCGA novel	871	N>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM4615607 rs1336897725	871	N>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs868181923	871	N>K		No	Ensembl
rs767267219	871	N>S		No	ExAC TOPMed gnomAD
rs767267219 COSM1711014	871	N>T	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM1387931	871	N>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1685411 rs2035515516	872	R>G	skin [Cosmic]	No	cosmic curated Ensembl
rs867732348	872	R>K		No	Ensembl
rs1468821376	873	E>D		No	gnomAD
rs2035515455	873	E>K		No	Ensembl
rs2035515355	874	N>D		No	TOPMed
COSM1387930	875	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs962391539	879	Q>E		No	TOPMed gnomAD
rs775538267	880	E>G		No	ExAC gnomAD
rs369894687	881	L>I		No	ESP ExAC TOPMed gnomAD
rs1245493332	882	Q>H		No	gnomAD
rs2035515118	884	E>V		No	TOPMed
rs753343209	888	L>I		No	ExAC gnomAD
rs2035415857	889	A>T		No	gnomAD
rs560382181	889	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs756025138	890	T>A		No	ExAC gnomAD
rs2143362375	890	T>I		No	Ensembl
COSM6082307	892	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1022376012	893	D>G		No	TOPMed gnomAD
rs1022376012	893	D>V		No	TOPMed gnomAD
rs2035415575	901	S>F		No	TOPMed
rs1385824126	902	E>A		No	TOPMed gnomAD
rs2143362315	903	Q>*		No	Ensembl
rs2035415514	903	Q>H		No	TOPMed
rs1361252766	904	L>M		No	gnomAD
rs138865724	905	A>V		No	ExAC TOPMed gnomAD
COSM173795 rs1380465528 COSM173796	906	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA gnomAD
rs756956320	907	G>A		No	ExAC TOPMed gnomAD
rs146103906	908	L>F		No	ESP ExAC TOPMed gnomAD
rs1568370720	909	L>P		No	Ensembl
rs1031600527	910	E>G		No	TOPMed
rs759900728	912	Q>R		No	ExAC gnomAD
rs766613052	917	T>M		No	ExAC TOPMed gnomAD
rs1424628099	918	Q>E		No	gnomAD
rs1383919013	920	S>N		No	gnomAD
COSM167256	921	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2035414886	922	K>E		No	TOPMed
rs1419692494	922	K>R		No	gnomAD
rs2035414820	923	A>T		No	TOPMed
rs1250087562	924	A>S		No	gnomAD
rs1250087562	924	A>T		No	gnomAD
rs748395651	926	R>I		No	ExAC gnomAD
TCGA novel	927	N>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs774846367	927	N>S		No	ExAC TOPMed gnomAD
TCGA novel	928	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	929	Q>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs138237421	930	E>D		No	ESP ExAC TOPMed gnomAD
rs748991958	931	I>L		No	ExAC gnomAD
rs1239141008	934	K>N		No	gnomAD
rs2035414492	935	D>E		No	Ensembl
COSM3524376	936	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	939	S>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs779510967	939	S>I		No	ExAC gnomAD
rs779510967	939	S>N		No	ExAC gnomAD
rs150157820	940	R>Q		No	ESP TOPMed gnomAD
rs755584844	940	R>W		No	ExAC TOPMed gnomAD
rs533369278	941	L>F		No	1000Genomes ExAC TOPMed gnomAD
rs774558598	942	E>K		No	ExAC TOPMed gnomAD
rs774558598	942	E>Q		No	ExAC TOPMed gnomAD
TCGA novel	943	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1193591404	944	A>T		No	gnomAD
rs749687547	945	N>K		No	ExAC gnomAD
rs769050948	945	N>S		No	ExAC TOPMed gnomAD
rs1486773204	946	S>G		No	gnomAD
COSM1522567 COSM6148182 rs377651671	946	S>N	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
COSM473654	950	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs745320980	952	I>M		No	ExAC gnomAD
rs769453658	952	I>N		No	ExAC TOPMed gnomAD
rs769453658	952	I>T		No	ExAC TOPMed gnomAD
rs2035402594	954	I>T		No	TOPMed
rs1598511800	954	I>V		No	Ensembl
rs1341014357	955	L>F		No	gnomAD
rs1253494413	956	R>G		No	gnomAD
rs780817794	956	R>S		No	ExAC gnomAD
rs2143359231 COSM417884	956	R>T	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs775851680	957	R>G		No	ExAC TOPMed gnomAD
rs747013639	961	E>D		No	ExAC TOPMed gnomAD
rs1383548500	962	L>V		No	gnomAD
rs1336134078	963	T>I		No	TOPMed gnomAD
rs1413020399	965	K>E		No	gnomAD
rs758226251	966	M>T		No	ExAC gnomAD
rs2035402036	968	K>Q		No	TOPMed
rs2035401942	969	A>T		No	Ensembl
rs2035401912	970	E>*		No	Ensembl
rs2035401882	970	E>D		No	Ensembl
rs1240288858	972	E>K		No	gnomAD
COSM6148183	976	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs775979482	977	K>T		No	ExAC gnomAD
rs770512001	978	E>D		No	ExAC gnomAD
rs1568370268	978	E>Q		No	Ensembl
rs2143358413	981	I>N		No	Ensembl
rs578202885	982	S>C		No	TOPMed
rs746529827	983	N>Y		No	ExAC gnomAD
rs777802918	984	L>V		No	ExAC gnomAD
rs772147808	985	K>M		No	ExAC gnomAD
rs1233127638	985	K>Q		No	gnomAD
rs2035398876	986	A>S		No	TOPMed
rs747884894	987	A>V		No	ExAC gnomAD
rs1225179506	990	K>R		No	gnomAD
rs2035398693	991	N>Y		No	TOPMed gnomAD
rs2035398570	994	T>S		No	TOPMed
rs781298649	996	R>*		No	ExAC TOPMed
rs2143358207	996	R>L		No	Ensembl
COSM4722378 rs2143358207	996	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2143358194	998	L>P		No	Ensembl
TCGA novel	999	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2143358176	1001	Q>R		No	Ensembl
TCGA novel	1002	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs747103559	1002	A>T		No	ExAC gnomAD
rs758883767	1006	L>*		No	ExAC gnomAD
rs753246567	1011	N>H		No	ExAC gnomAD
rs765767560	1012	R>*		No	ExAC
COSM173684	1012	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2035389110	1014	D>N		No	Ensembl
COSM986885	1014	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1317091806	1015	F>L		No	gnomAD
rs925044428	1016	K>R		No	TOPMed
rs755323333	1017	I>M		No	ExAC TOPMed gnomAD
rs1407851838	1018	D>E		No	gnomAD
rs2035388978	1018	D>V		No	TOPMed
TCGA novel	1019	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1296825297	1019	R>K		No	TOPMed
rs754168527	1021	K>R		No	ExAC TOPMed gnomAD
rs1424968636	1022	A>D		No	TOPMed gnomAD
rs1424968636	1022	A>G		No	TOPMed gnomAD
rs1480981364	1022	A>P		No	TOPMed gnomAD
rs1480981364	1022	A>T		No	TOPMed gnomAD
rs1316784773	1023	N>K		No	TOPMed gnomAD
COSM986884	1026	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1476713423	1028	R>K		No	TOPMed gnomAD
rs760311840	1029	K>N		No	ExAC gnomAD
rs767175878	1035	R>*		No	ExAC gnomAD
COSM4722377	1035	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1311790919	1040	E>D		No	gnomAD
rs1276322788	1041	L>F		No	gnomAD
rs1216092496	1042	N>S		No	gnomAD
rs1362586535	1047	K>E		No	gnomAD
TCGA novel	1047	K>I	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2035388174	1049	N>K		No	Ensembl
rs761438534	1049	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs774379389	1051	M>I		No	ExAC TOPMed gnomAD
rs2035388142	1051	M>T		No	TOPMed
COSM3403453	1054	K>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs112130712	1054	K>R		No	Ensembl
TCGA novel	1058	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM4071426	1062	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1336791864	1062	M>L		No	TOPMed gnomAD
rs749042645	1062	M>T		No	ExAC TOPMed gnomAD
rs1336791864	1062	M>V		No	TOPMed gnomAD
rs2035387805	1064	A>S		No	TOPMed
COSM1387927 rs771167832	1064	A>V	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs2143354026	1065	Q>*		No	Ensembl
rs141778124	1066	L>V		No	ESP ExAC TOPMed gnomAD
TCGA novel	1069	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM284664 rs2143353971	1069	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2143353940	1071	A>T		No	Ensembl
rs2143353924	1071	A>V		No	Ensembl
rs2143353916	1072	H>D		No	Ensembl
rs2143353909	1072	H>R		No	Ensembl
rs113818979	1073	R>S		No	Ensembl
rs772297301	1075	E>D		No	ExAC gnomAD
TCGA novel	1075	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs748160439	1076	L>F		No	ExAC TOPMed gnomAD
rs1490837121	1076	L>H		No	gnomAD
TCGA novel	1076	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs200435268	1077	Q>H		No	ESP ExAC TOPMed gnomAD
rs1243442361	1078	M>L		No	gnomAD
rs2143353847 COSM473653	1079	Q>*	Variant assessed as Somatic; HIGH impact. kidney [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1337509675	1079	Q>H		No	TOPMed gnomAD
COSM1564097	1081	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2143353810	1081	A>G		No	Ensembl
rs2035380400	1081	A>T		No	TOPMed
rs2143353810	1081	A>V		No	Ensembl
rs2143353799	1082	S>N		No	Ensembl
rs369089316	1083	K>R		No	ESP ExAC TOPMed gnomAD
COSM986883	1084	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2143353778	1085	S>N		No	Ensembl
rs148067520	1086	D>G		No	ESP
rs1289562513	1086	D>N		No	TOPMed
rs1307867034	1087	I>T		No	gnomAD
rs2143353746	1089	Q>*		No	Ensembl
rs750828834	1090	L>F		No	ExAC gnomAD
rs780922989	1091	R>C		No	ExAC TOPMed gnomAD
rs780922989	1091	R>G		No	ExAC TOPMed gnomAD
rs1042482794	1091	R>H		No	TOPMed gnomAD
rs1042482794	1091	R>L		No	TOPMed gnomAD
rs1473716519	1092	A>T		No	TOPMed
rs540903764	1093	K>E		No	1000Genomes
rs2143353694	1094	L>V		No	Ensembl
COSM4878231	1095	L>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2035379874	1096	D>H		No	Ensembl
rs2035379874 COSM1711013	1096	D>N	skin [Cosmic]	No	cosmic curated Ensembl
rs2292296	1097	L>F		No	1000Genomes ExAC
rs1161340242	1098	S>L		No	gnomAD
rs2143353636	1099	D>H		No	Ensembl
COSM708352	1100	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1411493246	1100	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs2143353630	1100	S>I		No	Ensembl
rs752540628	1101	T>A		No	ExAC TOPMed gnomAD
rs752540628	1101	T>P		No	ExAC TOPMed gnomAD
TCGA novel rs2035379574	1103	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
TCGA novel	1104	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1105	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM4071425	1107	P>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs765245222	1108	S>R		No	ExAC gnomAD
rs2143353564	1108	S>T		No	Ensembl
rs1487454563	1109	A>G		No	gnomAD
rs1487454563	1109	A>V		No	gnomAD
rs759270129	1110	D>N		No	ExAC TOPMed gnomAD
rs2035379387	1111	E>D		No	Ensembl
rs776416129	1111	E>G		No	ExAC gnomAD
rs35881519	1112	T>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs35881519 VAR_041057 COSM369399	1112	T>P	lung [Cosmic]	No	cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs35881519	1112	T>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs774458258	1113	D>G		No	ExAC TOPMed gnomAD
rs774458258	1113	D>V		No	ExAC TOPMed gnomAD
rs1285995516	1113	D>Y		No	gnomAD
rs768577712	1114	G>S		No	ExAC gnomAD
rs749406230	1115	N>K		No	ExAC gnomAD
rs1161105787	1116	L>P		No	TOPMed gnomAD
COSM3959058 rs2143353425	1117	P>A	lung [Cosmic]	No	cosmic curated Ensembl
rs1433501393	1119	S>A		No	TOPMed gnomAD
rs1268941452	1120	R>G		No	TOPMed
TCGA novel	1120	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1194421468	1122	E>D		No	Ensembl
rs777101627	1130	R>K		No	ExAC gnomAD
rs2035313318	1133	I>N		No	gnomAD
rs771385308	1133	I>V		No	ExAC gnomAD
rs1184890899	1135	R>Q		No	TOPMed gnomAD
rs570834375	1136	Y>C		No	TOPMed gnomAD
rs1273385707	1136	Y>H		No	Ensembl
rs777235960	1139	K>E		No	ExAC gnomAD
rs559279247	1139	K>R		No	1000Genomes ExAC gnomAD
rs1598508211	1141	Q>K		No	Ensembl
rs2035310483	1143	V>A		No	gnomAD
rs1373962900	1143	V>L		No	TOPMed
rs1283645009	1146	S>N		No	gnomAD
rs868384460 COSM1287683	1149	K>R	Variant assessed as Somatic; MODERATE impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs868384460	1149	K>T		No	gnomAD
TCGA novel	1150	I>F	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM1387922	1150	I>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs771581381	1150	I>V		No	ExAC TOPMed gnomAD
TCGA novel	1151	L>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs747273665	1152	F>L		No	ExAC gnomAD
rs1335946766	1153	Y>H		No	TOPMed
TCGA novel	1156	E>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM284663 rs747883475	1156	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs747883475	1156	E>Q		No	ExAC TOPMed gnomAD
rs1405474790	1157	Q>R		No	TOPMed gnomAD
rs941336344	1159	K>N		No	gnomAD
rs1470989676	1160	E>D		No	gnomAD
rs1160926202	1160	E>Q		No	gnomAD
rs2143338263	1161	Q>*		No	Ensembl
TCGA novel	1161	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM4071424	1162	S>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs147786322	1163	N>S		No	ESP ExAC TOPMed gnomAD
rs112108028	1164	P>L		No	Ensembl
COSM1480236	1164	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2143338237	1165	S>C		No	Ensembl
COSM3890793	1165	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs748810091 COSM1522569 COSM6148184	1166	M>V	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs796733537	1169	D>E		No	gnomAD
rs371281413	1170	I>V		No	ESP ExAC TOPMed gnomAD
COSM4826530	1171	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1269043003	1173	L>V		No	gnomAD
rs2035230320	1177	R>T		No	TOPMed
rs1485615507	1179	V>I		No	Ensembl
rs2035230084	1189	T>N		No	TOPMed
rs748791602	1194	K>*		No	ExAC gnomAD
rs1230584127	1200	Y>*		No	gnomAD
rs2035228597	1201	A>T		No	TOPMed
COSM1480235	1203	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs774762031	1206	C>Y		No	ExAC gnomAD
rs768283783	1209	D>G		No	ExAC TOPMed gnomAD
COSM3422076	1209	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1210	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2035228305	1211	E>Q		No	TOPMed gnomAD
rs2035228243	1212	M>V		No	Ensembl
rs762640083	1213	E>D		No	ExAC gnomAD
rs1449256895	1214	P>S		No	gnomAD
rs1449256895	1214	P>T		No	gnomAD
rs774830120	1215	V>L		No	ExAC gnomAD
VAR_041059 rs201390233	1217	Q>E		No	UniProt ExAC dbSNP gnomAD
rs2035227957	1220	K>E		No	Ensembl
rs1290639641	1222	N>D		No	gnomAD
rs746798144	1225	N>S		No	ExAC gnomAD
rs1460448403	1225	N>Y		No	TOPMed
rs1297367845	1226	H>P		No	TOPMed
rs2035227767	1226	H>Q		No	gnomAD
rs1394901953	1227	K>R		No	TOPMed gnomAD
COSM3723414	1229	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2035227609	1236	Y>C		No	TOPMed
rs2035227478	1239	P>L		No	gnomAD
rs1418861570	1241	N>H		No	Ensembl
rs370881210	1241	N>S		No	ESP
rs1324070590	1242	C>W		No	TOPMed
rs2035227363	1242	C>Y		No	gnomAD
rs1207032593	1243	D>N		No	gnomAD
rs780172139	1249	L>V		No	ExAC gnomAD
rs756160749	1251	H>R		No	ExAC gnomAD
TCGA novel	1253	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1376498424	1254	K>R		No	gnomAD
rs1411987132	1257	P>A		No	TOPMed gnomAD
COSM5132165	1257	P>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1411987132	1257	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
TCGA novel	1258	A>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2035226779	1258	A>S		No	Ensembl
rs1250752105	1260	E>D		No	Ensembl
rs2035226684	1260	E>Q		No	Ensembl
rs763334480 COSM1387920	1262	R>*	Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1045142 VAR_041060	1262	R>Q		No	UniProt dbSNP gnomAD
rs775156664	1263	R>G		No	ExAC gnomAD
rs367756889	1263	R>K		No	ESP TOPMed
rs2035226431	1264	C>*		No	TOPMed gnomAD
rs2663698 VAR_041061	1264	C>R		No	UniProt dbSNP gnomAD
rs187097967	1264	C>Y		No	1000Genomes ExAC gnomAD
COSM3524374	1265	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4403739	1267	K>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1169814094	1269	H>D		No	TOPMed gnomAD
rs2035226252	1272	H>P		No	Ensembl
rs2035226189	1273	L>S		No	gnomAD
rs1251030702	1274	D>N		No	gnomAD
rs1251030702	1274	D>Y		No	gnomAD
TCGA novel	1276	K>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2035226115	1276	K>T		No	Ensembl
rs776073769	1279	L>F		No	ExAC gnomAD
rs1264482076	1280	I>T		No	gnomAD
rs1489408976	1281	C>S		No	gnomAD
rs1489408976	1281	C>Y		No	gnomAD
rs1026865839	1282	P>L		No	TOPMed gnomAD
rs2035225953	1282	P>S		No	TOPMed gnomAD
rs746993999	1285	V>I		No	1000Genomes ExAC gnomAD
rs2035213977	1289	V>I		No	Ensembl
rs774072813	1290	T>A		No	ExAC gnomAD
TCGA novel	1291	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1467334866	1292	A>T		No	gnomAD
rs1378152432	1294	D>G		No	gnomAD
TCGA novel	1294	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs553994989	1300	C>R		No	1000Genomes gnomAD
rs553994989	1300	C>S		No	1000Genomes gnomAD
rs2035213636	1300	C>Y		No	TOPMed
rs2035213606	1301	S>T		No	Ensembl
rs2143317859	1303	D>H		No	Ensembl
COSM292664	1305	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1475961847	1305	Q>K		No	gnomAD
TCGA novel	1307	K>M	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs752898741 COSM1387918	1307	K>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
TCGA novel	1308	W>M	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2035213315	1309	V>I		No	TOPMed
rs1207733480	1310	T>A		No	1000Genomes TOPMed gnomAD
rs1245758648	1313	V>G		No	TOPMed gnomAD
rs1236633255	1313	V>I		No	TOPMed
rs757275720	1319	N>I		No	ExAC TOPMed gnomAD
rs757275720	1319	N>S		No	ExAC TOPMed gnomAD
rs778188850	1320	P>T		No	ExAC gnomAD
rs373328051	1325	V>I		No	ESP ExAC TOPMed gnomAD
rs779197623	1326	R>C		No	ExAC TOPMed gnomAD
rs754629412	1326	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs754629412	1326	R>P		No	ExAC TOPMed gnomAD
rs369915267	1328	S>C		No	ESP ExAC TOPMed gnomAD
rs369915267	1328	S>F		No	ESP ExAC TOPMed gnomAD
rs1168692349	1329	P>R		No	gnomAD
rs750019239	1329	P>S		No	ExAC TOPMed gnomAD
rs750019239	1329	P>T		No	ExAC TOPMed gnomAD
COSM986882	1330	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1199528638	1331	T>A		No	TOPMed gnomAD
rs577744892	1331	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs761705260	1333	S>C		No	ExAC gnomAD
rs774164361	1334	T>A		No	ExAC TOPMed gnomAD
TCGA novel	1335	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs768291716	1336	S>C		No	ExAC gnomAD
rs768291716	1336	S>Y		No	ExAC gnomAD
rs2035212234	1337	T>A		No	TOPMed
rs1027937252	1337	T>S		No	TOPMed
rs2035212169	1338	A>G		No	TOPMed
rs1568365401	1339	N>H		No	Ensembl
rs1257369100	1340	Q>H		No	gnomAD
rs1277837412 COSM247092	1341	S>F	prostate [Cosmic]	No	cosmic curated TOPMed gnomAD
rs762824905	1341	S>P		No	ExAC gnomAD
rs2035211941	1342	F>L		No	TOPMed
rs2035211908	1343	R>G		No	TOPMed
rs1307802016	1343	R>Q		No	TOPMed
COSM3403452	1343	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs776773281	1346	V>I		No	ExAC gnomAD
COSM986881	1347	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1277314371	1347	K>R		No	TOPMed gnomAD
TCGA novel	1348	N>I	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs771144273	1349	T>I		No	ExAC TOPMed gnomAD
TCGA novel	1352	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1252894608	1353	T>I		No	gnomAD
rs2035211573	1354	S>N		No	TOPMed
rs2035186130	1355	S>Q		No	TOPMed
rs748282303	1355	S>Y		No	ExAC gnomAD

No associated diseases with Q13464

9 regional properties for Q13464

Type	Name	Position	InterPro Accession
domain	SANT/Myb domain	159 - 250	IPR001005-1
domain	SANT/Myb domain	428 - 476	IPR001005-2
domain	SET domain	612 - 733	IPR001214
domain	CXC domain	503 - 605	IPR026489
domain	Tesmin/TSO1-like CXC domain	555 - 592	IPR033467
domain	Polycomb repressive complex 2 subunit EZH1/EZH2, tri-helical domain	158 - 249	IPR041343
domain	Pre-SET CXC domain	559 - 590	IPR041355
domain	EZH2, SET domain	609 - 728	IPR044439
domain	EZH1/2, MCSS domain	257 - 309	IPR048358

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Cytoplasm Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole Golgi apparatus membrane ; Peripheral membrane protein Cell projection, bleb Cytoplasm, cytoskeleton Cell membrane Cell projection, lamellipodium Cell projection, ruffle	A small proportion is associated with Golgi membranes (PubMed:12773565) Associated with the mother centriole and an intercentriolar linker (By similarity) Colocalizes with ITGB1BP1 and ITGB1 at the cell membrane predominantly in lamellipodia and membrane ruffles, but also in retraction fibers (By similarity) Localizes at the cell membrane in an ITGB1BP1-dependent manner (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

13 GO annotations of cellular component

Name	Definition
bleb	A cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Blebs are formed during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses.
centriole	A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic stress granule	A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
ruffle	Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork.
Schaffer collateral - CA1 synapse	A synapse between the Schaffer collateral axon of a CA3 pyramidal cell and a CA1 pyramidal cell.
secretory granule lumen	The volume enclosed by the membrane of a secretory granule.

9 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
metal ion binding	Binding to a metal ion.
protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction
protein serine kinase activity	Catalysis of the reactions
protein serine/threonine kinase activity	Catalysis of the reactions
Rho-dependent protein serine/threonine kinase activity	Rho GTPase-dependent catalysis of the reaction
small GTPase binding	Binding to a small monomeric GTPase.
tau protein binding	Binding to tau protein. tau is a microtubule-associated protein, implicated in Alzheimer's disease, Down Syndrome and ALS.
tau-protein kinase activity	Catalysis of the reaction

63 GO annotations of biological process

Name	Definition
actin 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 actin filaments and their associated proteins.
actomyosin structure 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 containing both actin and myosin or paramyosin. The myosin may be organized into filaments.
aortic valve morphogenesis	The process in which the structure of the aortic valve is generated and organized.
apical constriction	The actin-mediated process that results in the contraction of the apical end of a polarized columnar epithelial cell.
bleb assembly	The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses.
blood vessel diameter maintenance	Any process that modulates the diameter of blood vessels.
canonical NF-kappaB signal transduction	The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription.
cortical actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of actin-based cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane.
embryonic morphogenesis	The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants.
epithelial to mesenchymal transition	A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
leukocyte cell-cell adhesion	The attachment of a leukocyte to another cell via adhesion molecules.
leukocyte migration	The movement of a leukocyte within or between different tissues and organs of the body.
leukocyte tethering or rolling	Transient adhesive interactions between leukocytes and endothelial cells lining blood vessels. Carbohydrates on circulating leukocytes bind selectins on the vessel wall causing the leukocytes to slow down and roll along the inner surface of the vessel wall. During this rolling motion, transitory bonds are formed and broken between selectins and their ligands. Typically the first step in cellular extravasation (the movement of leukocytes out of the circulatory system, towards the site of tissue damage or infection).
membrane to membrane docking	The initial attachment of a membrane to a target membrane, mediated by proteins protruding from the two membranes. Docking requires only that the membranes come close enough for the proteins to interact and adhere.
mitotic cytokinesis	A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells.
motor neuron apoptotic process	Any apoptotic process in a motor neuron, an efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes movement.
mRNA destabilization	Any process that decreases the stability of an mRNA molecule, making it more vulnerable to degradative processes. Messenger RNA is the intermediate molecule between DNA and protein. It includes UTR and coding sequences. It does not contain introns.
myoblast migration	The orderly movement of a myoblast from one site to another, often during the development of a multicellular organism. A myoblast is a cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.
negative regulation of amyloid precursor protein catabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of amyloid precursor protein catabolic process.
negative regulation of amyloid-beta formation	Any process that stops, prevents or reduces the frequency, rate or extent of amyloid-beta formation.
negative regulation of angiogenesis	Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis.
negative regulation of bicellular tight junction assembly	Any process that stops, prevents or reduces the frequency, rate or extent of tight junction assembly.
negative regulation of biomineral tissue development	Any process that stops, prevents, or reduces the frequency, rate or extent of biomineral tissue development, the formation of hard tissues that consist mainly of inorganic compounds.
negative regulation of membrane protein ectodomain proteolysis	Any process that stops, prevents, or reduces the frequency, rate or extent of membrane protein ectodomain proteolysis.
negative regulation of motor neuron apoptotic process	Any process that stops, prevents or reduces the frequency, rate or extent of motor neuron apoptotic process.
negative regulation of myosin-light-chain-phosphatase activity	Any process that stops, prevents, or reduces the frequency, rate or extent of myosin-light-chain-phosphatase activity.
negative regulation of phosphorylation	Any process that stops, prevents or decreases the rate of addition of phosphate groups to a molecule.
negative regulation of protein binding	Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding.
neuron projection arborization	The process in which the anatomical structures of a neuron projection are generated and organized into branches. A neuron projection is any process extending from a neural cell, such as axons or dendrites.
neuron projection development	The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
peptidyl-serine phosphorylation	The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
podocyte cell migration	The orderly movement of a podocyte from one site to another, often during the development of a multicellular organism or multicellular structure. A podocyte is a specialized kidney epithelial cell.
positive regulation of amyloid-beta clearance	Any process that activates or increases the frequency, rate or extent of amyloid-beta clearance.
positive regulation of autophagy	Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
positive regulation of cardiac muscle hypertrophy	Any process that increases the rate, frequency or extent of the enlargement or overgrowth of all or part of the heart due to an increase in size (not length) of individual cardiac muscle fibers, without cell division.
positive regulation of connective tissue replacement	Any process that activates or increases the frequency, rate or extent of connective tissue replacement.
positive regulation of dephosphorylation	Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a molecule.
positive regulation of focal adhesion assembly	Any process that activates or increases the frequency, rate or extent of focal adhesion assembly, the establishment and maturation of focal adhesions.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of phosphatase activity	Any process that increases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate.
protein localization to plasma membrane	A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of actin cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of angiotensin-activated signaling pathway	Any process that modulates the frequency, rate or extent of the angiotensin-activated signaling pathway.
regulation of cell adhesion	Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix.
regulation of cell junction assembly	Any process that modulates the frequency, rate or extent of cell junction assembly.
regulation of cell migration	Any process that modulates the frequency, rate or extent of cell migration.
regulation of cell motility	Any process that modulates the frequency, rate or extent of cell motility.
regulation of establishment of cell polarity	Any process that modulates the frequency, rate or extent of establishment of cell polarity.
regulation of establishment of endothelial barrier	Any process that modulates the frequency, rate or extent of establishment of endothelial barrier.
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 keratinocyte differentiation	Any process that modulates the frequency, rate or extent of keratinocyte differentiation.
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.
regulation of neuron differentiation	Any process that modulates the frequency, rate or extent of neuron differentiation.
regulation of stress fiber assembly	Any process that modulates the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.
regulation of synapse maturation	Any process that modulates the extent of synapse maturation, the process that organizes a synapse so that it attains its fully functional state.
regulation of synaptic vesicle endocytosis	Any process that modulates the frequency, rate or extent of synaptic vesicle endocytosis.
response to angiotensin	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an angiotensin stimulus. Angiotensin is any of three physiologically active peptides (angiotensin II, III, or IV) processed from angiotensinogen.
response to transforming growth factor beta	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transforming growth factor beta stimulus.
Rho protein signal transduction	The series of molecular signals within the cell that are mediated by a member of the Rho family of proteins switching to a GTP-bound active state.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
smooth muscle contraction	A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q28021	ROCK2	Rho-associated protein kinase 2	Bos taurus (Bovine)	SS
Q9W1B0	gek	Serine/threonine-protein kinase Genghis Khan	Drosophila melanogaster (Fruit fly)	SS
O75116	ROCK2	Rho-associated protein kinase 2	Homo sapiens (Human)	SS
Q9Y5S2	CDC42BPB	Serine/threonine-protein kinase MRCK beta	Homo sapiens (Human)	SS
Q5VT25	CDC42BPA	Serine/threonine-protein kinase MRCK alpha	Homo sapiens (Human)	EV
P70336	Rock2	Rho-associated protein kinase 2	Mus musculus (Mouse)	SS
Q3UU96	Cdc42bpa	Serine/threonine-protein kinase MRCK alpha	Mus musculus (Mouse)	SS
Q80UW5	Cdc42bpg	Serine/threonine-protein kinase MRCK gamma	Mus musculus (Mouse)	PR
Q7TT50	Cdc42bpb	Serine/threonine-protein kinase MRCK beta	Mus musculus (Mouse)	SS
P70335	Rock1	Rho-associated protein kinase 1	Mus musculus (Mouse)	SS
M3TYT0	ROCK2	Rho-associated protein kinase 2	Sus scrofa (Pig)	SS
O54874	Cdc42bpa	Serine/threonine-protein kinase MRCK alpha	Rattus norvegicus (Rat)	SS
Q62868	Rock2	Rho-associated protein kinase 2	Rattus norvegicus (Rat)	EV
Q7TT49	Cdc42bpb	Serine/threonine-protein kinase MRCK beta	Rattus norvegicus (Rat)	SS
Q63644	Rock1	Rho-associated protein kinase 1	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MSTGDSFETR	FEKMDNLLRD	PKSEVNSDCL	LDGLDALVYD	LDFPALRKNK	NIDNFLSRYK
70	80	90	100	110	120
DTINKIRDLR	MKAEDYEVVK	VIGRGAFGEV	QLVRHKSTRK	VYAMKLLSKF	EMIKRSDSAF
130	140	150	160	170	180
FWEERDIMAF	ANSPWVVQLF	YAFQDDRYLY	MVMEYMPGGD	LVNLMSNYDV	PEKWARFYTA
190	200	210	220	230	240
EVVLALDAIH	SMGFIHRDVK	PDNMLLDKSG	HLKLADFGTC	MKMNKEGMVR	CDTAVGTPDY
250	260	270	280	290	300
ISPEVLKSQG	GDGYYGRECD	WWSVGVFLYE	MLVGDTPFYA	DSLVGTYSKI	MNHKNSLTFP
310	320	330	340	350	360
DDNDISKEAK	NLICAFLTDR	EVRLGRNGVE	EIKRHLFFKN	DQWAWETLRD	TVAPVVPDLS
370	380	390	400	410	420
SDIDTSNFDD	LEEDKGEEET	FPIPKAFVGN	QLPFVGFTYY	SNRRYLSSAN	PNDNRTSSNA
430	440	450	460	470	480
DKSLQESLQK	TIYKLEEQLH	NEMQLKDEME	QKCRTSNIKL	DKIMKELDEE	GNQRRNLEST
490	500	510	520	530	540
VSQIEKEKML	LQHRINEYQR	KAEQENEKRR	NVENEVSTLK	DQLEDLKKVS	QNSQLANEKL
550	560	570	580	590	600
SQLQKQLEEA	NDLLRTESDT	AVRLRKSHTE	MSKSISQLES	LNRELQERNR	ILENSKSQTD
610	620	630	640	650	660
KDYYQLQAIL	EAERRDRGHD	SEMIGDLQAR	ITSLQEEVKH	LKHNLEKVEG	ERKEAQDMLN
670	680	690	700	710	720
HSEKEKNNLE	IDLNYKLKSL	QQRLEQEVNE	HKVTKARLTD	KHQSIEEAKS	VAMCEMEKKL
730	740	750	760	770	780
KEEREAREKA	ENRVVQIEKQ	CSMLDVDLKQ	SQQKLEHLTG	NKERMEDEVK	NLTLQLEQES
790	800	810	820	830	840
NKRLLLQNEL	KTQAFEADNL	KGLEKQMKQE	INTLLEAKRL	LEFELAQLTK	QYRGNEGQMR
850	860	870	880	890	900
ELQDQLEAEQ	YFSTLYKTQV	KELKEEIEEK	NRENLKKIQE	LQNEKETLAT	QLDLAETKAE
910	920	930	940	950	960
SEQLARGLLE	EQYFELTQES	KKAASRNRQE	ITDKDHTVSR	LEEANSMLTK	DIEILRRENE
970	980	990	1000	1010	1020
ELTEKMKKAE	EEYKLEKEEE	ISNLKAAFEK	NINTERTLKT	QAVNKLAEIM	NRKDFKIDRK
1030	1040	1050	1060	1070	1080
KANTQDLRKK	EKENRKLQLE	LNQEREKFNQ	MVVKHQKELN	DMQAQLVEEC	AHRNELQMQL
1090	1100	1110	1120	1130	1140
ASKESDIEQL	RAKLLDLSDS	TSVASFPSAD	ETDGNLPESR	IEGWLSVPNR	GNIKRYGWKK
1150	1160	1170	1180	1190	1200
QYVVVSSKKI	LFYNDEQDKE	QSNPSMVLDI	DKLFHVRPVT	QGDVYRAETE	EIPKIFQILY
1210	1220	1230	1240	1250	1260
ANEGECRKDV	EMEPVQQAEK	TNFQNHKGHE	FIPTLYHFPA	NCDACAKPLW	HVFKPPPALE
1270	1280	1290	1300	1310	1320
CRRCHVKCHR	DHLDKKEDLI	CPCKVSYDVT	SARDMLLLAC	SQDEQKKWVT	HLVKKIPKNP
1330	1340	1350
PSGFVRASPR	TLSTRSTANQ	SFRKVVKNTS	GKTS