AiPD: Autoinhibited Protein Database

Q14289

Gene name	PTK2B (FAK2, PYK2, RAFTK)
Protein name	Protein-tyrosine kinase 2-beta
Names	Calcium-dependent tyrosine kinase, CADTK, Calcium-regulated non-receptor proline-rich tyrosine kinase, Cell adhesion kinase beta, CAK-beta, CAKB, Focal adhesion kinase 2, FADK 2, Proline-rich tyrosine kinase 2, Related adhesion focal tyrosine kinase, RAFTK
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2185
EC number
Protein Class

Descriptions

(Annotation based on sequence homology with Q00944)
Focal adhesion kinase (FAK) integrates signals from integrin and growth factor receptors to regulate cellular responses including cell adhesion, migration and survival.
The inactive structure reveals a mechanism of inhibition in which the N-terminal FERM domain directly binds the kinase domain, blocking access to the catalytic cleft and protecting the FAK activation loop from Src phosphorylation. Additionally, the FERM domain sequesters the Tyr397 autophosphorylation and Src recruitment site, which lies in the linker connecting the FERM and kinase domains. FAK is activated by autophosphorylation at Tyr-397, which promotes interaction with Src and phosphorylation at Tyr-576 and Tyr-577 in the kinase activation loop.

Autoinhibitory domains (AIDs)

1-50 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-50 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

566-590 (Activation loop from InterPro)

Target domain	425-683 (Protein kinase domain)
Relief mechanism
Assay

References

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

Autoinhibited structure

Activated structure

26 structures for Q14289

Entry ID	Method	Resolution	Chain	Position	Source
2LK4	NMR	-	A	871-1005	PDB
3CC6	X-ray	160 A	A	414-692	PDB
3ET7	X-ray	270 A	A	416-692	PDB
3FZO	X-ray	220 A	A	416-692	PDB
3FZP	X-ray	210 A	A	416-692	PDB
3FZR	X-ray	270 A	A	416-692	PDB
3FZS	X-ray	175 A	A	416-692	PDB
3FZT	X-ray	195 A	A	416-692	PDB
3GM1	X-ray	295 A	A/B	861-1009	PDB
3GM2	X-ray	271 A	A	861-1009	PDB
3GM3	X-ray	260 A	A	861-1009	PDB
3H3C	X-ray	200 A	A	416-692	PDB
3U3F	X-ray	310 A	A/B/C/D	871-1005	PDB
4EKU	X-ray	325 A	A	21-409	PDB
4H1J	X-ray	200 A	A	416-692	PDB
4H1M	X-ray	199 A	A	416-692	PDB
4R32	X-ray	350 A	A	871-1005	PDB
4XEF	X-ray	250 A	A/D	871-1005	PDB
4XEK	X-ray	179 A	A	871-1005	PDB
4XEV	X-ray	201 A	A/D	871-1005	PDB
5TO8	X-ray	198 A	A	414-692	PDB
5TOB	X-ray	212 A	A	414-692	PDB
6LF3	X-ray	320 A	A/B/C/D/E/F	790-839	PDB
7PLL	NMR	-	B	708-726	PDB
8XOX	X-ray	190 A	A	416-692	PDB
AF-Q14289-F1	Predicted				AlphaFoldDB

802 variants for Q14289

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA370803017 rs1290235746	3	G>E		No	ClinGen gnomAD
CA370803015 rs1229614471	3	G>R		No	ClinGen gnomAD
CA370803023 rs1586233964	4	V>G		No	ClinGen Ensembl
rs1276190328 CA370803035	6	E>G		No	ClinGen gnomAD
COSM605091 rs771681042 CA4688131	6	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	7	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370803059 rs1474015950	10	R>*		No	ClinGen gnomAD
CA4688133 rs111853465	10	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4688134 rs111853465	10	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370803083 rs1170523854	14	G>R		No	ClinGen gnomAD
rs1371271101 CA370803087	14	G>V		No	ClinGen gnomAD
CA4688136 rs762236399	15	T>M		No	ClinGen ExAC TOPMed gnomAD
rs781686212 CA174229948	16	L>S		No	ClinGen Ensembl
rs750994537 CA4688138	17	R>C		No	ClinGen ExAC gnomAD
CA4688139 rs145156050	17	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs200828678 CA4688142	18	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4688141 rs372930124	18	R>W		No	ClinGen ESP ExAC gnomAD
rs1299100876 CA370803108	19	P>S	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA370803115 rs1235273535	20	E>A		No	ClinGen TOPMed
CA4688145 rs771540159	21	G>A		No	ClinGen ExAC gnomAD
rs771540159 CA370803123	21	G>D		No	ClinGen ExAC gnomAD
CA370803122 rs1210792308	21	G>S		No	ClinGen gnomAD
rs771540159 CA174229979	21	G>V		No	ClinGen ExAC gnomAD
rs940745958 CA174229982	24	E>Q		No	ClinGen Ensembl
CA370803148 rs1294168210	25	P>H		No	ClinGen TOPMed
CA370803145 rs1211311207	25	P>S		No	ClinGen gnomAD
rs771459641 CA4688148	26	M>I		No	ClinGen ExAC gnomAD
CA4688147 rs745856279	26	M>V		No	ClinGen ExAC TOPMed gnomAD
CA370803157 rs775087514	27	V>L		No	ClinGen ExAC gnomAD
rs775087514 CA4688149	27	V>M		No	ClinGen ExAC gnomAD
rs899301883 CA174230005	29	V>L		No	ClinGen Ensembl
CA4688151 rs768298339	32	D>A		No	ClinGen ExAC gnomAD
CA370803216 rs1416130763	36	E>G		No	ClinGen gnomAD
CA4688152 rs776918943	36	E>K		No	ClinGen ExAC gnomAD
rs1334505088 CA370803220	37	D>N		No	ClinGen TOPMed gnomAD
CA370803231 rs144750616	38	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs144750616 CA4688154	38	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA370803239 rs1322209812	39	R>C		No	ClinGen gnomAD
CA4688155 rs746414552	39	R>H		No	ClinGen ExAC gnomAD
CA370803264 rs1365274145	41	L>F		No	ClinGen gnomAD
CA370803292 rs1563251462	42	K>N		No	ClinGen Ensembl
CA174230028 rs889356454	43	V>I		No	ClinGen Ensembl
rs577784299 CA174230033	44	C>S		No	ClinGen TOPMed gnomAD
rs1586234486 CA370803337	45	F>S		No	ClinGen Ensembl
rs368361431 CA4688156	46	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA174230046 rs966807675	49	S>C		No	ClinGen TOPMed
CA4688159 rs200987347	49	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs753036914 CA174230059	51	N>I		No	ClinGen ExAC TOPMed gnomAD
rs753036914 CA4688161	51	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4688163 rs778816972	57	K>I		No	ClinGen ExAC gnomAD
rs778816972 CA4688164	57	K>R		No	ClinGen ExAC gnomAD
CA370803560 rs1201979521	58	L>Q		No	ClinGen TOPMed
rs779360852 CA4688166	59	V>I		No	ClinGen ExAC gnomAD
CA370803579 rs1173106679	60	K>Q		No	ClinGen gnomAD
rs141851888 CA4688167	61	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs768210361 CA4688168	62	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1160887487 CA370803626	63	V>I		No	ClinGen gnomAD
CA370803632 rs1160887487	63	V>L		No	ClinGen gnomAD
CA370803654 rs1388985882	64	Q>L		No	ClinGen TOPMed gnomAD
CA4688169 rs150796343	65	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150796343 CA4688170	65	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1320967822 CA370803662	65	T>S		No	ClinGen gnomAD
rs773660803 CA4688172	66	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4688174 rs201752959	67	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs150603215 CA4688173	67	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4688176 rs139777503	68	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs774779134 CA4688175 COSM1098649	68	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1357109631 CA370806304	70	I>V		No	ClinGen gnomAD
CA370806348 rs547818222	73	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA4688196 rs547818222	73	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs144837322 CA370806400	77	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4688200 rs376146343	78	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4688201 rs775741138	79	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA370806439 rs1369875104	81	G>R		No	ClinGen gnomAD
CA4688203 rs764387331	82	P>S		No	ClinGen ExAC gnomAD
rs1423913997 CA370806468	83	N>T		No	ClinGen TOPMed gnomAD
rs1432110418 CA370806476	84	I>V		No	ClinGen gnomAD
rs147218792 CA4688205 COSM1098655	85	R>Q	endometrium Variant assessed as Somatic; 0.0002773 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA4688204 rs369608545	85	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs748675649 CA4688206	86	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1315083217 CA370806513	87	A>V		No	ClinGen gnomAD
rs202215628 CA174243014	90	Y>C		No	ClinGen 1000Genomes
rs1344424606 CA370806573	91	G>E		No	ClinGen gnomAD
rs901339566 CA174243017	92	L>V		No	ClinGen TOPMed
rs752220910 CA4688210	93	R>M		No	ClinGen ExAC gnomAD
rs1034576353 CA370806705	97	M>L		No	ClinGen TOPMed gnomAD
CA174243023 rs1034576353	97	M>V		No	ClinGen TOPMed gnomAD
rs748935335 COSM3432313 CA4688213	99	S>F	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs779440252 CA4688215 CA370806792	100	D>E		No	ClinGen ExAC TOPMed gnomAD
rs140538134 CA4688214	100	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370806774 rs140538134 COSM605089	100	D>Y	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs371046279 CA4688218	105	L>P		No	ClinGen ESP ExAC gnomAD
rs747067824 CA4688220	108	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	110	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4688221 rs149715605	110	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA370807076 rs1381806395	111	V>A		No	ClinGen gnomAD
rs1563270460 CA370807116	112	G>V		No	ClinGen Ensembl
CA4688223 rs761987508	114	V>G		No	ClinGen ExAC gnomAD
CA370807226 rs1435955484	116	D>G		No	ClinGen gnomAD
CA4688224 rs200325494	116	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767433198 CA4688227	120	C>R		No	ClinGen ExAC gnomAD
CA4688228 CA370807437 rs752698808	123	V>L		No	ClinGen ExAC gnomAD
rs752698808 CA4688229	123	V>M		No	ClinGen ExAC gnomAD
rs1245860124 CA370807504 COSM351768	126	E>K	lung Variant assessed as Somatic; 0.0 impact. urinary_tract [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA370808308 rs1472455315	129	Y>C		No	ClinGen gnomAD
TCGA novel	131	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1180404480 CA370808373	134	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs775385734 CA4688246	134	R>H		No	ClinGen ExAC gnomAD
rs760553257 CA4688247	135	Y>C		No	ClinGen ExAC gnomAD
CA174243881 rs963159573	137	P>A		No	ClinGen TOPMed gnomAD
CA370808417 rs963159573	137	P>S		No	ClinGen TOPMed gnomAD
rs1295198263 CA370808454	139	D>E		No	ClinGen gnomAD
TCGA novel	141	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370808476 rs1197992662	141	M>T		No	ClinGen TOPMed
CA4688250 rs554907535	143	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA370808521 rs1354776280	144	L>P		No	ClinGen TOPMed
rs1291706132 CA370808534	145	K>R		No	ClinGen TOPMed
rs1385047478 CA370808574	148	R>K		No	ClinGen TOPMed
CA4688251 rs148416337	149	T>P		No	ClinGen ESP ExAC gnomAD
rs750162545 CA4688252	150	T>M		No	ClinGen ExAC TOPMed
CA4688254 rs780612192	153	Y>C		No	ClinGen ExAC gnomAD
rs1428743504 CA370808621	153	Y>H		No	ClinGen gnomAD
CA174243951 rs953208127	154	F>L		No	ClinGen Ensembl
rs192474266 CA174243957	155	Y>C		No	ClinGen 1000Genomes
CA4688280 rs373105458	159	R>Q	Variant assessed as Somatic; 4.631e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4688279 rs749473260	159	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4688281 rs779839625	160	N>D		No	ClinGen ExAC gnomAD
TCGA novel	161	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370809706 rs1484322121	161	D>N		No	ClinGen TOPMed gnomAD
TCGA novel	162	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs923237640 CA174245528 COSM163822	165	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs768558812 CA4688283	165	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4688286 rs375270527	167	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA370809838 rs375270527	167	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA174245591 rs924544920	168	S>G		No	ClinGen TOPMed
rs772877940 CA4688287	168	S>N		No	ClinGen ExAC gnomAD
rs762639264 CA4688288	170	V>I		No	ClinGen ExAC gnomAD
rs765936240 CA4688289	172	E>K		No	ClinGen ExAC gnomAD
rs568960514 CA174245624	173	G>A		No	ClinGen Ensembl
COSM1098661 rs1363794240 CA370810003	175	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA4688293 rs753098791	182	E>G		No	ClinGen ExAC gnomAD
rs55781835 CA174245682	184	R>M		No	ClinGen Ensembl
CA4688318 COSM3834502 rs750561555	185	R>W	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1410966693 CA370811614	187	F>S		No	ClinGen gnomAD
rs780782276 CA4688321	188	K>R		No	ClinGen ExAC TOPMed gnomAD
rs747944708 CA4688322	189	D>H		No	ClinGen ExAC gnomAD
rs756041016 CA4688323	190	M>V		No	ClinGen ExAC gnomAD
rs140796597 CA174252114	193	N>D		No	ClinGen ESP
CA174252144 rs761667453	193	N>K		No	ClinGen ExAC gnomAD
rs1406125901 CA370811660	193	N>S		No	ClinGen gnomAD
rs1360390188 CA370811680	195	L>F		No	ClinGen TOPMed
CA370811699 rs1349027601	196	D>E		No	ClinGen gnomAD
rs1389516884 CA370811707	197	K>R		No	ClinGen TOPMed gnomAD
CA4688328 CA4688327 rs145177380	201	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1342502836 CA370811808	202	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1342502836 CA370811810	202	E>Q		No	ClinGen TOPMed gnomAD
CA370811880 rs1292161071	205	E>G		No	ClinGen gnomAD
CA370796885 rs1322368911	207	E>D		No	ClinGen TOPMed
CA370796900 rs1184980730	208	V>G		No	ClinGen gnomAD
CA370796908 rs1244428196	209	G>E		No	ClinGen gnomAD
rs779646370 CA4688351	211	D>G		No	ClinGen ExAC
CA4688353 rs768959189	217	Q>H		No	ClinGen ExAC gnomAD
CA4688354 rs777010738	219	Q>R		No	ClinGen ExAC
CA4688355 rs201588000	220	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA370797312 rs1554504597	225	K>E		No	ClinGen Ensembl
rs1486600375 CA370797383	227	F>L		No	ClinGen TOPMed gnomAD
CA174222864 rs1046870960	228	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs888289185 CA174222866	232	Q>P		No	ClinGen Ensembl
rs771099007 CA4688377	239	A>P		No	ClinGen ExAC TOPMed gnomAD
rs771099007 CA370797536	239	A>T		No	ClinGen ExAC TOPMed gnomAD
CA370797543 rs1201991191	239	A>V		No	ClinGen gnomAD
rs188634353 CA4688379 COSM1456350	240	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4688378 rs774581359	240	S>P		No	ClinGen ExAC gnomAD
CA174222876 rs1042968623	242	R>G		No	ClinGen TOPMed gnomAD
TCGA novel	246	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761635419 CA4688382	247	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA370797631 rs1284899566	248	M>L		No	ClinGen gnomAD
CA370797636 rs1289067983	248	M>T		No	ClinGen TOPMed
rs750322383 CA4688384	249	K>R		No	ClinGen ExAC gnomAD
CA4688385 rs758362822	252	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1286115355 CA370797691	253	T>P		No	ClinGen gnomAD
CA370797694 rs1286115355	253	T>S		No	ClinGen gnomAD
rs751081088 CA4688388	255	A>G		No	ClinGen ExAC gnomAD
CA370797712 rs1239080079	255	A>S		No	ClinGen gnomAD
CA370797713 rs1239080079	255	A>T		No	ClinGen gnomAD
TCGA novel	255	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150448766 CA4688391	258	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1586306441 CA370797748	259	N>H		No	ClinGen Ensembl
CA4688392 rs558405489	259	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201457448 CA4688393	260	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749749459 CA4688394	261	D>H		No	ClinGen ExAC gnomAD
CA4688395 rs771583297	262	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA370797797 rs1563280519	264	T>A		No	ClinGen Ensembl
CA4688396 rs61738530 RCV000971324	264	T>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775756337 CA4688399	265	Y>C		No	ClinGen ExAC gnomAD
CA4688398 rs772315208	265	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs775756337 CA4688400	265	Y>S		No	ClinGen ExAC gnomAD
CA4688401 rs765038455	266	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs772887309 CA4688402	270	I>V		No	ClinGen ExAC gnomAD
CA370798076 rs1403378549	272	G>E		No	ClinGen gnomAD
rs941186551 CA370798073 CA174222988	272	G>R		No	ClinGen gnomAD
rs867102206 CA174222992 COSM131794	273	W>*	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA370798119 rs1251499891	274	N>S		No	ClinGen TOPMed
CA4688427 rs760294485	276	T>I		No	ClinGen ExAC gnomAD
rs1363906323 CA370798147	276	T>S		No	ClinGen gnomAD
CA4688429 rs199835327	278	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA370798215 rs1586307933	279	L>P		No	ClinGen Ensembl
CA370798243 rs1257009762	281	I>V		No	ClinGen Ensembl
rs1315079118 CA370798268	282	G>D		No	ClinGen TOPMed
CA370798278 rs1350133123	283	P>S		No	ClinGen TOPMed
CA4688432 rs750916560	284	K>E		No	ClinGen ExAC gnomAD
CA4688435 rs747046696	287	R>C		No	ClinGen ExAC gnomAD
rs369828516 CA4688436	287	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs748393259 CA4688438	290	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1456950726 CA370798455	291	S>R		No	ClinGen TOPMed
CA4688439 rs770672538	292	Q>L		No	ClinGen ExAC gnomAD
rs759740076 CA4688442	293	D>E		No	ClinGen ExAC TOPMed gnomAD
CA4688441 rs759463225	293	D>G		No	ClinGen ExAC TOPMed gnomAD
rs775566358 CA4688443	294	A>T		No	ClinGen ExAC TOPMed gnomAD
CA370798532 rs760076531	295	K>E		No	ClinGen ExAC TOPMed gnomAD
CA4688445 rs372782567	295	K>N		No	ClinGen ESP ExAC gnomAD
rs760076531 CA4688444	295	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1472199674 CA370798581	297	T>A		No	ClinGen gnomAD
rs1472199674 CA370798580	297	T>P		No	ClinGen gnomAD
rs752764255 CA4688473	298	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA370798596 rs1387573529	299	L>P		No	ClinGen gnomAD
rs200025953 CA4688476	301	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA370798608 rs1563282116	301	E>V		No	ClinGen Ensembl
rs367987503 CA4688477	303	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1388266716 CA370798621	303	K>T		No	ClinGen TOPMed
rs1167346039 CA370798627	304	Q>E		No	ClinGen TOPMed
CA174223290 rs776687198	304	Q>H		No	ClinGen Ensembl
CA370798661 rs1428666010	309	R>W		No	ClinGen TOPMed
rs1586310367 CA370798674	310	C>W		No	ClinGen Ensembl
rs746852655 CA4688479	312	P>L		No	ClinGen ExAC TOPMed gnomAD
CA370798684 rs746852655	312	P>R		No	ClinGen ExAC TOPMed gnomAD
rs779925728 CA4688478	312	P>S		No	ClinGen ExAC gnomAD
rs776766099 CA4688481	314	E>G		No	ClinGen ExAC TOPMed gnomAD
CA174223297 rs897153010	314	E>K		No	ClinGen TOPMed gnomAD
CA174223302 rs776766099	314	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1586310443 CA370798695	315	E>K		No	ClinGen Ensembl
rs564271202 CA4688482	316	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA370798703 rs1482321042	316	G>S		No	ClinGen TOPMed
CA4688483 rs577746675	317	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4688484 rs577746675	317	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4688485 rs759756524	319	V>I		No	ClinGen ExAC TOPMed gnomAD
CA370798728 rs1563282242	320	L>H		No	ClinGen Ensembl
rs774793270 CA4688487	322	L>Q		No	ClinGen ExAC gnomAD
rs759952753 CA4688488	323	G>D		No	ClinGen ExAC gnomAD
rs139089526 CA174223319	326	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA4688490 rs139089526	326	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	327	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4688493 rs142980389	329	Q>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	329	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs936619459 CA370798812	331	L>F		No	ClinGen TOPMed
rs761921258 CA4688531	332	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1418506610 CA370798816	332	S>P		No	ClinGen TOPMed gnomAD
rs765281068 CA4688532	333	I>V		No	ClinGen ExAC gnomAD
CA370798856 rs1469094147	335	T>P		No	ClinGen TOPMed
rs1246725285 CA370798880	336	S>L		No	ClinGen TOPMed
rs367810356 CA4688534	337	S>Y		No	ClinGen ESP ExAC gnomAD
rs763298731 CA4688535	341	A>T		No	ClinGen ExAC gnomAD
rs1426455091 CA370798961	341	A>V		No	ClinGen TOPMed gnomAD
rs895009151 CA174223666	342	E>D		No	ClinGen TOPMed
rs1175759871 CA370798985	343	N>S		No	ClinGen gnomAD
rs1223833767 CA370799010	344	M>I		No	ClinGen TOPMed
CA370798995 rs1252749491	344	M>V		No	ClinGen gnomAD
CA4688536 rs767364095	345	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4688538 rs372119534	349	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777736836 CA4688539	350	G>S		No	ClinGen ExAC TOPMed gnomAD
CA370799122 rs1422676523	351	Y>C		No	ClinGen gnomAD
rs753770676 CA4688540	351	Y>H		No	ClinGen ExAC
rs374576859 CA4688541	353	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1165177324 CA370799156	353	R>W		No	ClinGen gnomAD
rs745453997 CA4688543	355	Q>R		No	ClinGen ExAC gnomAD
VAR_041687 rs56175011 RCV000955388 CA4688544	359	Q>E		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA174223689 rs923593444	360	G>A		No	ClinGen gnomAD
CA4688545 rs779736659	360	G>R		No	ClinGen ExAC gnomAD
rs1381134165 CA370799325	361	S>A		No	ClinGen gnomAD
rs1381134165 CA370799322	361	S>P		No	ClinGen gnomAD
rs1248815276 CA370799338	362	L>V		No	ClinGen gnomAD
rs747366644 CA4688546	363	I>V		No	ClinGen ExAC gnomAD
CA370799400 rs1586313918	365	H>P		No	ClinGen Ensembl
CA370799397 rs1363701699	365	H>Y		No	ClinGen TOPMed
CA370799441 rs1390259488	367	R>S		No	ClinGen gnomAD
rs748624795 CA4688549	368	K>T		No	ClinGen ExAC gnomAD
rs1175348461 CA370799567	369	D>G		No	ClinGen gnomAD
CA370799593 rs1426549825	371	E>K		No	ClinGen gnomAD
CA4688575 rs759712843	373	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4688574 rs759712843	373	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4688573 rs370030419	373	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA174223894 rs998451535	375	S>R		No	ClinGen TOPMed
CA370799694 rs1429835993	378	Q>H		No	ClinGen TOPMed
CA370799689 rs1429256178	378	Q>R		No	ClinGen gnomAD
rs1290984722 CA370799738	381	M>I		No	ClinGen gnomAD
CA370799733 rs1162792787	381	M>T		No	ClinGen gnomAD
rs1341597925 CA370799745	382	L>P		No	ClinGen gnomAD
CA4688596 rs140576421	383	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA370800381 rs1331840908	383	N>T		No	ClinGen TOPMed gnomAD
rs1563285064 CA370800405	385	E>A		No	ClinGen Ensembl
TCGA novel	385	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	385	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199551006 CA4688598	387	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762908114 CA4688597	387	R>W		No	ClinGen ExAC TOPMed gnomAD
rs148998768 CA4688600	388	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751045138 CA4688599	388	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1586316719 CA370800443	389	S>A		No	ClinGen Ensembl
CA174224051 rs201276254	390	H>L		No	ClinGen 1000Genomes gnomAD
rs1334033003 CA370800543	395	C>F		No	ClinGen gnomAD
rs1328477803 CA370800530	395	C>G		No	ClinGen gnomAD
rs752444924 CA4688602	396	S>N		No	ClinGen ExAC TOPMed gnomAD
CA4688603 rs756499830	397	I>V		No	ClinGen ExAC gnomAD
CA370800656 rs1422886406	398	E>D		No	ClinGen TOPMed
CA4688628 rs747166342	399	S>T		No	ClinGen ExAC gnomAD
rs755205513 CA4688629	401	I>F		No	ClinGen ExAC TOPMed gnomAD
rs755205513 CA370800672	401	I>V		No	ClinGen ExAC TOPMed gnomAD
CA174224463 rs933050702	402	Y>S		No	ClinGen Ensembl
rs749051595 CA370800685	403	A>S		No	ClinGen ExAC TOPMed gnomAD
rs749051595 CA4688631	403	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	404	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370800703 rs774107995	405	I>M		No	ClinGen ExAC TOPMed gnomAD
rs745851920 CA4688634	406	P>A		No	ClinGen ExAC gnomAD
CA174224477 rs201712625	406	P>H		No	ClinGen 1000Genomes
rs775157680 CA4688636	407	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4688638 rs763829281	409	T>I		No	ClinGen ExAC gnomAD
CA370800723 rs1586319861	409	T>P		No	ClinGen Ensembl
rs947227498 CA174224479	410	L>P		No	ClinGen TOPMed
rs776459863 CA4688639	411	R>*		No	ClinGen ExAC TOPMed gnomAD
CA4688640 rs150760494	411	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA174224484 rs1042980988	412	R>G		No	ClinGen Ensembl
CA4688641 rs765654240	412	R>K		No	ClinGen ExAC gnomAD
COSM131796 CA4688646 rs41276291	414	G>E	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs778098175 CA4688644	414	G>R		No	ClinGen ExAC gnomAD
rs41276291 CA4688645	414	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746969440 CA4688673	415	G>A		No	ClinGen ExAC gnomAD
rs746969440 CA4688674	415	G>D		No	ClinGen ExAC gnomAD
rs780855737 CA4688675	416	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1480446100 CA370800779	418	Y>H		No	ClinGen gnomAD
rs769474828 CA4688677	422	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769474828 CA370800805	422	R>G		No	ClinGen ExAC TOPMed gnomAD
rs772807733 CA4688678 COSM303040	422	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA370800818 rs149530445	424	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4688679 rs149530445	424	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1166694077 CA370800831	426	V>L		No	ClinGen TOPMed gnomAD
rs774798665 CA4688681	428	N>D		No	ClinGen ExAC gnomAD
CA174224655 rs927138501	428	N>T		No	ClinGen Ensembl
rs201274282 CA4688682 COSM131798	429	R>C	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs144179520 CA4688683	429	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4688684 rs752804935	430	I>V		No	ClinGen ExAC gnomAD
CA174224658 rs866508914	431	L>F		No	ClinGen Ensembl
CA370800868 rs1308067962	433	E>K		No	ClinGen TOPMed
rs1274495430 CA370800898	437	G>R		No	ClinGen TOPMed
rs1355184213 CA370800923	440	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs764342481 CA4688687	446	N>D		No	ClinGen ExAC gnomAD
rs764342481 CA4688686	446	N>H		No	ClinGen ExAC gnomAD
TCGA novel	448	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4688707 rs764107558	450	E>G		No	ClinGen ExAC gnomAD
CA4688708 rs776875525	453	N>S		No	ClinGen ExAC gnomAD
CA370801030 rs1468672554	454	V>L		No	ClinGen TOPMed
TCGA novel	455	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374032290 CA174224884	456	V>I		No	ClinGen Ensembl
rs903951254 CA174224887	458	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs903951254 CA370801058	458	T>S		No	ClinGen TOPMed
rs1200813418 CA370801071	460	K>T		No	ClinGen TOPMed
rs1341299220 CA370801077	461	K>E		No	ClinGen gnomAD
rs1271709767 CA370801090	462	D>E		No	ClinGen gnomAD
rs1273151701 CA370801086	462	D>Y		No	ClinGen gnomAD
CA370801096 rs1339898200	463	C>F		No	ClinGen TOPMed gnomAD
CA4688711 rs199794154	463	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370801094 rs1339898200	463	C>Y		No	ClinGen TOPMed gnomAD
rs1316298198 CA370801107	465	L>P		No	ClinGen gnomAD
rs1195022807 CA370801112	466	D>Y		No	ClinGen gnomAD
rs148995232 CA4688715	467	N>D		No	ClinGen ESP ExAC
CA4688716 rs755610010	467	N>S		No	ClinGen ExAC gnomAD
rs777152162 CA4688717	470	K>N		No	ClinGen ExAC TOPMed gnomAD
CA4688718 rs748911697	472	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs191072490 CA4688719	473	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370801170 rs1224076907	474	E>K		No	ClinGen TOPMed
CA4688721 rs375881525	475	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA370801178 rs375881525	475	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA370801208 rs1475915683	478	M>V		No	ClinGen gnomAD
CA370801238 rs199752331	482	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199752331 CA4688739	482	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758726335 CA4688740	483	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs781741081 CA4688741	484	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4688743 rs769031656	486	I>V		No	ClinGen ExAC gnomAD
CA370801273 rs1256833138	487	V>M		No	ClinGen TOPMed gnomAD
rs748208363 CA4688745	491	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1239273029 CA370801301	491	G>V		No	ClinGen TOPMed gnomAD
rs1586324553 CA370801304	492	I>V		No	ClinGen Ensembl
CA4688746 rs770043238	493	I>T		No	ClinGen ExAC gnomAD
rs267601879 COSM131800 CA174225005	494	E>K	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA370801342 rs1239641619	497	P>R		No	ClinGen gnomAD
CA4688748 rs773527019	501	I>F		No	ClinGen ExAC TOPMed gnomAD
rs773527019 CA4688749	501	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1467206313 CA370801386	503	E>D		No	ClinGen gnomAD
CA370801394 rs1171515087	504	L>F		No	ClinGen gnomAD
CA174225013 rs921254529	506	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs369129837 CA174225011	506	P>T		No	ClinGen ESP TOPMed gnomAD
CA4688751 rs775132770	507	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA370801417 rs1448268750	508	G>E		No	ClinGen gnomAD
CA370801441 rs1183781657	510	L>V		No	ClinGen TOPMed gnomAD
CA174225128 rs955541169	511	G>A		No	ClinGen Ensembl
CA4688770 rs760362838	516	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA370801480 rs1298486442	516	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA370801489 rs1426331836	517	N>K		No	ClinGen TOPMed
rs771659479 CA174225138	517	N>S		No	ClinGen TOPMed gnomAD
rs761747162 CA4688773	518	K>E		No	ClinGen ExAC
rs764672419 CA4688774	519	N>K		No	ClinGen ExAC gnomAD
CA370801509 rs1240145762	520	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA174225143 rs111770927	522	K>E		No	ClinGen Ensembl
rs1307488913 CA370801526	523	V>A		No	ClinGen TOPMed gnomAD
CA4688775 rs749924182	524	L>F		No	ClinGen ExAC
rs1356351018 CA370801538	525	T>I		No	ClinGen gnomAD
rs1466480211 CA370801541	526	L>F		No	ClinGen TOPMed
rs116574797 CA4688777	527	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754074058 CA174225152	528	L>V		No	ClinGen Ensembl
CA370801579 rs1268218695 COSM1552514	532	Q>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA4688780 rs781693148	533	I>L		No	ClinGen ExAC gnomAD
CA4688781 rs369029128	533	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs756673710 CA4688782	534	C>R		No	ClinGen ExAC gnomAD
TCGA novel	534	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370801597 rs1563289078	535	K>R		No	ClinGen Ensembl
CA4688783 rs778490418	537	M>V		No	ClinGen ExAC gnomAD
CA370801617 rs1367462428	538	A>T		No	ClinGen gnomAD
TCGA novel	541	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs572267483 CA174225163	543	I>L		No	ClinGen Ensembl
rs1230889149 CA370801652	543	I>N		No	ClinGen TOPMed
CA4688784 rs112334653	544	N>H		No	ClinGen ExAC TOPMed gnomAD
CA4688785 rs151100763	544	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4688786 rs151100763	544	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1379800580 CA370801672	546	V>A		No	ClinGen gnomAD
CA4688788 rs141042486	546	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA370801678 rs1312473316	547	H>R		No	ClinGen gnomAD
CA370801698 rs1176040233	548	R>S		No	ClinGen gnomAD
CA4688811 rs770288587	553	R>Q		No	ClinGen ExAC gnomAD
rs749280298 CA4688810	553	R>W		No	ClinGen ExAC gnomAD
CA370801745 rs759033684	556	L>M		No	ClinGen ExAC gnomAD
rs759033684 CA4688813	556	L>V		No	ClinGen ExAC gnomAD
CA4688815 rs775328150	562	C>G		No	ClinGen ExAC gnomAD
rs112211925 COSM1643583 CA370801817	567	D>G	stomach [Cosmic]	No	ClinGen cosmic curated Ensembl
rs112211925 CA174226345	567	D>V		No	ClinGen Ensembl
rs200141263 CA4688816	569	G>V		No	ClinGen 1000Genomes ExAC gnomAD
COSM1686054 rs868685067 CA174226346	571	S>F	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA4688819 rs757800100	572	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs771994511 CA4688818	572	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	573	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370801856 rs1161515156	574	I>V		No	ClinGen TOPMed
CA4688821 rs750513650	577	E>K		No	ClinGen ExAC TOPMed gnomAD
CA370801892 rs1199857556	578	D>E		No	ClinGen TOPMed
rs923765961 CA174226350	579	Y>C		No	ClinGen Ensembl
rs758516589 CA4688822	581	K>I		No	ClinGen ExAC gnomAD
TCGA novel	582	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139127669 CA4688844	582	A>V		No	ClinGen ESP ExAC gnomAD
rs1563290852 CA370801936	583	S>C		No	ClinGen Ensembl
CA4688845 rs141562215	584	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370801952 rs1405045641	586	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs775506133 CA174226377	589	I>V		No	ClinGen TOPMed gnomAD
rs760748904 CA174226379	590	K>R		No	ClinGen Ensembl
rs936473339 CA174226382	594	P>L		No	ClinGen TOPMed
CA370802009 rs1326444973	595	E>K		No	ClinGen gnomAD
TCGA novel	597	I>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1444229107 CA370802035	598	N>I		No	ClinGen gnomAD
CA370802045 rs1416362915	599	F>L		No	ClinGen TOPMed
rs1281085991 CA370802047	600	R>*		No	ClinGen TOPMed gnomAD
CA370802046 rs1281085991	600	R>G		No	ClinGen TOPMed gnomAD
CA370802048 rs1350927918	600	R>Q		No	ClinGen TOPMed gnomAD
rs745828291 CA4688848	601	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4688849 rs745828291	601	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4688850 rs779720605	601	R>H		No	ClinGen ExAC TOPMed gnomAD
rs768354498 CA4688852	603	T>M		No	ClinGen ExAC TOPMed gnomAD
rs762219267 CA4688855	604	T>A		No	ClinGen ExAC gnomAD
CA4688856 rs773671348	604	T>I		No	ClinGen ExAC gnomAD
rs762219267 CA4688854	604	T>P		No	ClinGen ExAC gnomAD
rs181922180 CA174226393	607	D>N		No	ClinGen 1000Genomes
rs370995513 CA174226395 COSM3412955	608	V>I	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA gnomAD
rs766388355 CA4688858	609	W>C		No	ClinGen ExAC gnomAD
rs751633425	611	F>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs376666218	612	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA4688861 rs759650182	612	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4688860 rs759650182	612	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754472545 CA4688886	613	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1486119070 CA370802147	614	C>S		No	ClinGen gnomAD
rs764966348 CA4688887	615	M>L		No	ClinGen ExAC gnomAD
rs755710624 CA4688890	627	F>L		No	ClinGen ExAC gnomAD
rs1393120791 CA370802273	631	N>S		No	ClinGen TOPMed gnomAD
rs1563292143 CA370802297	634	V>G		No	ClinGen Ensembl
rs200282956 CA4688891	634	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA370802293 rs200282956	634	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1434923205 CA370802299	635	I>F		No	ClinGen gnomAD
rs1586333011 CA370802307	636	G>A		No	ClinGen Ensembl
CA370802305 rs200235961 CA4688893	636	G>R	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
rs200235961 CA4688892	636	G>W		No	ClinGen ExAC TOPMed gnomAD
CA370802342 rs1318428019	642	D>N		No	ClinGen gnomAD
rs774798724 CA4688894	643	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1231792839 CA370802351	643	R>Q		No	ClinGen TOPMed gnomAD
rs774798724 COSM1098707 CA370802350	643	R>W	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs746362059 CA4688895	645	P>A		No	ClinGen ExAC gnomAD
rs746362059 CA370802359	645	P>S		No	ClinGen ExAC gnomAD
rs1586333084 CA370802372	647	P>T		No	ClinGen Ensembl
rs987053260 CA174226657	651	P>L		No	ClinGen TOPMed
rs775417285 CA4688897	652	P>L		No	ClinGen ExAC TOPMed gnomAD
rs772128656 CA4688896	652	P>S		No	ClinGen ExAC gnomAD
CA370802414 rs1586333177	653	V>G		No	ClinGen Ensembl
rs562893825 CA4688899	656	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4688901 rs762790909	657	L>F		No	ClinGen ExAC gnomAD
CA370802445 rs1454518366	658	M>I		No	ClinGen gnomAD
rs138935546 CA370802442	658	M>K		No	ClinGen ESP ExAC gnomAD
rs138935546 CA4688902	658	M>T		No	ClinGen ESP ExAC gnomAD
rs934791077 CA174226668	660	R>C		No	ClinGen TOPMed gnomAD
CA4688903 rs531806371	660	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs754885821 CA4688904	663	D>N		No	ClinGen ExAC gnomAD
CA370802493 rs777356124	665	D>E		No	ClinGen ExAC gnomAD
rs755668710 CA4688907	665	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4688906 rs548687039	665	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs753519229 CA4688909	667	S>G		No	ClinGen ExAC gnomAD
CA370802506 rs1446430110	667	S>R		No	ClinGen gnomAD
rs757547331 CA4688910	668	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1470708135 CA370802509	668	D>Y		No	ClinGen TOPMed
rs375221108 CA370802515	669	R>G		No	ClinGen ESP TOPMed gnomAD
CA370802516 rs1264912138 COSM95117	669	R>Q	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs375221108 CA174226686	669	R>W		No	ClinGen ESP TOPMed gnomAD
COSM125661 rs369239201 CA4688911	671	R>C	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs746299619 CA4688912 COSM252749	671	R>H	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs780654139 CA4688915	674	E>K		No	ClinGen ExAC TOPMed gnomAD
rs780654139 CA4688914	674	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA370802558 rs1283760480	676	V>A		No	ClinGen TOPMed
CA370802554 rs1397075867	676	V>M		No	ClinGen gnomAD
rs1373857493 CA370802612	682	V>A		No	ClinGen gnomAD
CA4688947 rs142897332	682	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4688948 rs191110858	683	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370802633 rs1310644769	685	M>T		No	ClinGen TOPMed
rs776111566 CA4688949	687	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA4688950 rs761350472	687	K>R		No	ClinGen ExAC gnomAD
rs368617865 CA4688951	688	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370802671 rs1293306071	690	A>V		No	ClinGen gnomAD
rs758654235 CA4688953	691	M>V		No	ClinGen ExAC gnomAD
CA370802690 rs1255260347	693	Q>*		No	ClinGen gnomAD
rs766774117 CA4688954	693	Q>R		No	ClinGen ExAC gnomAD
CA4688956 rs144604358	698	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs35174236 VAR_041688 CA4688958	698	R>H		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs144604358 CA4688957	698	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs756238630 CA4688959	700	R>*		No	ClinGen ExAC TOPMed gnomAD
COSM1098711 CA4688960 rs753217488	700	R>Q	Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4688963 rs775337446	704	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4688965 rs200441000	705	L>M		No	ClinGen 1000Genomes ExAC gnomAD
CA4688966 rs377363024	706	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs982766597 CA174227487	707	P>L		No	ClinGen Ensembl
CA4688967 rs761266768	708	T>I		No	ClinGen ExAC gnomAD
CA4688968 rs764837632	709	A>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	709	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764837632 CA370802791	709	A>V		No	ClinGen ExAC TOPMed gnomAD
rs762683622 CA4688970 CA370802814	712	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1435877061 CA370802858 COSM1313969	717	P>L	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA370802866 rs891058085	718	S>R		No	ClinGen TOPMed
rs748125013 CA4688986	719	R>Q		No	ClinGen ExAC gnomAD
CA370802902 rs772765943	724	P>H		No	ClinGen ExAC TOPMed gnomAD
CA4688988 rs772765943	724	P>L		No	ClinGen ExAC TOPMed gnomAD
rs368579457 CA4688987	724	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1372153358 CA370802909	725	P>L		No	ClinGen gnomAD
rs141726800 CA4688989	726	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4688990 rs141726800	726	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1221755691 CA370802912	726	P>S		No	ClinGen gnomAD
CA174227863 rs902564297	729	N>S		No	ClinGen Ensembl
TCGA novel	730	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA174227866 rs112133314	731	L>Q		No	ClinGen Ensembl
CA370802945 rs1168923566	732	A>T		No	ClinGen TOPMed
CA4688994 rs753196257	732	A>V		No	ClinGen ExAC TOPMed gnomAD
rs760981859 CA4689013	739	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA370803282 rs143169594	742	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4689014 rs764637082	742	G>S		No	ClinGen ExAC TOPMed gnomAD
rs143169594 CA4689015	742	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4689016 rs368243738	743	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4689017 rs765309187	744	C>F		No	ClinGen ExAC gnomAD
CA174228298 rs749324316	744	C>G		No	ClinGen Ensembl
CA370803330 rs1356756940	747	S>C		No	ClinGen gnomAD
rs1233395600 CA370803336	748	P>A		No	ClinGen gnomAD
CA370803334 rs1233395600	748	P>S		No	ClinGen gnomAD
CA4689019 rs758609800 COSM326270	749	T>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs752506358 CA4689021	751	T>A		No	ClinGen ExAC gnomAD
rs1181428835 CA370803369	751	T>I		No	ClinGen TOPMed
rs146171096 CA4689023	754	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA370803439 rs1431076107	757	P>L		No	ClinGen gnomAD
CA4689024 rs749184832	757	P>S		No	ClinGen ExAC gnomAD
CA4689026 rs778552068	758	S>F		No	ClinGen ExAC gnomAD
CA4689025 rs770506312	758	S>P		No	ClinGen ExAC gnomAD
CA4689028 rs144910489	760	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4689029 rs139028524	763	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1586347406 CA370803514	765	T>P		No	ClinGen Ensembl
TCGA novel	766	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777131140 CA4689032	768	L>P		No	ClinGen ExAC TOPMed gnomAD
CA370803555 rs1563298004	769	H>N		No	ClinGen Ensembl
rs150074089 CA4689034	770	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4689033 rs762400845	770	R>W		No	ClinGen ExAC gnomAD
rs773280449 CA4689035	772	N>D		No	ClinGen ExAC gnomAD
rs763061482 CA4689036	772	N>S		No	ClinGen ExAC gnomAD
CA4689038 rs575002541	774	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA4689039 rs374410320	776	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4689040 rs544742483	776	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA174228328 rs200652368	777	H>Y		No	ClinGen 1000Genomes gnomAD
rs1259825708 CA370803671	779	M>I		No	ClinGen gnomAD
CA4689042 rs200782817	780	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4689041 rs753724315	780	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4689062 rs750415894	781	E>K		No	ClinGen ExAC gnomAD
rs765187369 CA174230835	782	E>K		No	ClinGen gnomAD
rs367803850 CA4689063	783	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1563302157 CA370803737	784	F>L		No	ClinGen Ensembl
CA4689064 rs779445276	786	Q>*		No	ClinGen ExAC gnomAD
CA370803752 rs199504084	786	Q>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	786	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370803755 rs1563302180	787	P>S		No	ClinGen Ensembl
CA4689066 rs754583505	789	S>R		No	ClinGen ExAC gnomAD
rs780938313 CA4689067	790	R>Q		No	ClinGen ExAC gnomAD
rs1334030649 CA370803794	793	A>T		No	ClinGen gnomAD
TCGA novel	793	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4689069 rs748493605 CA370803814	795	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs778215355 CA4689071	798	E>A		No	ClinGen ExAC gnomAD
rs1247911989 CA370803835	798	E>D		No	ClinGen gnomAD
rs868451087 CA174230857	799	A>V		No	ClinGen TOPMed gnomAD
rs749802238 CA370803861	802	V>A		No	ClinGen ExAC gnomAD
rs749802238 CA4689072	802	V>G		No	ClinGen ExAC gnomAD
rs1182269445 CA370803876	804	M>I		No	ClinGen gnomAD
CA4689074 rs774287585	805	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs771523736 COSM1098719 CA4689073	805	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs371375403 CA4689075	807	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA174230868 rs928054345	807	I>V		No	ClinGen TOPMed gnomAD
rs55747955 VAR_041689 CA4689076	808	L>P		No	ClinGen UniProt ExAC dbSNP gnomAD
rs1461744727 CA370803896	808	L>V		No	ClinGen gnomAD
CA4689077 rs775877674	811	Q>P		No	ClinGen ExAC gnomAD
rs1245752948 CA370803930	813	K>Q		No	ClinGen TOPMed
rs961266685 CA174230873	814	Q>E		No	ClinGen Ensembl
CA370803952 rs1158000223	815	M>I		No	ClinGen TOPMed gnomAD
CA370803949 rs1586357817	815	M>T		No	ClinGen Ensembl
rs765126941 CA4689079	821	W>C		No	ClinGen ExAC gnomAD
rs1235251141 CA370804002	822	L>F		No	ClinGen TOPMed gnomAD
rs762788059 CA4689082	825	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764367017	826	E>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs751002167 COSM364099 CA4689084	826	E>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs754570105 CA4689085	827	K>R		No	ClinGen ExAC gnomAD
rs780663854 CA4689086	828	S>A		No	ClinGen ExAC TOPMed gnomAD
CA370804048 rs1586357948	829	L>V		No	ClinGen Ensembl
rs1287011109 CA370804071	831	P>T		No	ClinGen gnomAD
TCGA novel	832	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145396684 CA4689107	832	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA174230958 rs866963432	833	V>I		No	ClinGen Ensembl
CA4689108 rs754127475	837	D>V		No	ClinGen ExAC gnomAD
CA370804125 rs751019	838	K>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370804126 rs751019	838	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4689109 VAR_020284 rs751019	838	K>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4689110 rs779248390	839	S>Y		No	ClinGen ExAC gnomAD
CA174230971 rs971135773	840	P>A		No	ClinGen Ensembl
CA174230968 rs971135773	840	P>S		No	ClinGen Ensembl
rs1213042931 CA370804144	841	L>F		No	ClinGen gnomAD
CA4689137 rs770576947	842	T>A		No	ClinGen ExAC TOPMed gnomAD
CA4689138 COSM252752 rs774185140	842	T>M	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs571484711 CA4689140	846	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs776089788 CA4689144	848	G>D		No	ClinGen ExAC gnomAD
CA370804196 rs763599035	848	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4689143 rs763599035	848	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1586363780 CA370804508	851	E>A		No	ClinGen Ensembl
CA370804521 rs1454603021	852	F>S		No	ClinGen TOPMed
rs770767869 CA4689186	855	P>R		No	ClinGen ExAC gnomAD
CA370804555 rs1451890846	856	P>S		No	ClinGen TOPMed gnomAD
CA370804553 rs1451890846	856	P>T		No	ClinGen TOPMed gnomAD
rs1180426328 CA370804565	857	Q>R		No	ClinGen gnomAD
rs370659369 CA4689189	860	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4689188 rs760025018	860	P>S		No	ClinGen ExAC TOPMed gnomAD
rs760738792 CA4689191	861	R>K		No	ClinGen ExAC gnomAD
TCGA novel	861	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4689192 rs764093473	863	G>S		No	ClinGen ExAC gnomAD
rs1391084844 CA370804623	863	G>V		No	ClinGen gnomAD
COSM3412961 CA4689193 rs753976890	864	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4689194 rs147909940	864	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	865	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4689195 rs765481842	865	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA174232201 rs1016559731	867	I>L		No	ClinGen gnomAD
CA370804713 rs1016559731	867	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs527388224 CA174232203	872	N>D		No	ClinGen TOPMed
rs747438751 CA370804771	872	N>K		No	ClinGen ExAC gnomAD
rs527388224 CA370804763	872	N>Y		No	ClinGen TOPMed
rs777145911 CA4689229	875	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1434078062 CA370804793	875	R>W		No	ClinGen gnomAD
rs1228616660 CA370804800	876	T>N		No	ClinGen TOPMed gnomAD
rs141604763 CA4689230	876	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA370804808 rs1309858373	877	D>N		No	ClinGen gnomAD
CA4689234 rs766694378	879	L>P		No	ClinGen ExAC gnomAD
CA370804849 rs1207183278	881	Y>C		No	ClinGen gnomAD
rs148098986 CA4689237	883	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1193199403 CA370804877	884	V>I		No	ClinGen TOPMed gnomAD
rs1193199403 CA370804879	884	V>L		No	ClinGen TOPMed gnomAD
CA4689238 rs753828871	886	E>G		No	ClinGen ExAC gnomAD
rs1423332845 CA370804901	886	E>K		No	ClinGen gnomAD
rs756765442 CA4689239	888	V>A		No	ClinGen ExAC gnomAD
rs778549869 CA174232250	889	R>L		No	ClinGen ExAC TOPMed gnomAD
rs778549869 CA4689240	889	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1434031157 CA370804924	889	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1456681623 CA370804926	890	A>T		No	ClinGen TOPMed gnomAD
CA4689241 rs140923137	890	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs200062537 CA4689244	891	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4689243 rs200062537	891	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1197643825 CA370804946	893	E>D		No	ClinGen TOPMed
rs1413720793 CA370804940	893	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4689245 rs150385119	894	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA370804951 rs1365117728	894	L>P		No	ClinGen gnomAD
TCGA novel	895	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748669263 CA4689247	897	E>K		No	ClinGen ExAC gnomAD
CA4689249 rs773163210	901	L>P		No	ClinGen ExAC gnomAD
rs770347314 CA4689248	901	L>V		No	ClinGen ExAC TOPMed gnomAD
rs771040667 CA4689251	902	P>T		No	ClinGen ExAC gnomAD
CA4689253 rs774662036	903	P>S		No	ClinGen ExAC TOPMed gnomAD
rs774662036 CA4689252	903	P>T		No	ClinGen ExAC TOPMed gnomAD
CA4689256 rs761836663	904	E>G		No	ClinGen ExAC gnomAD
rs373751030 CA4689255	904	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel rs869044240	904	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749879548 CA4689259	907	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4689260 rs757947502	908	V>A		No	ClinGen ExAC gnomAD
CA370805049 rs1457555621	910	V>A		No	ClinGen gnomAD
CA370805050 rs1457555621	910	V>G		No	ClinGen gnomAD
CA370805046 rs779533287	910	V>L		No	ClinGen ExAC gnomAD
rs779533287 CA4689261	910	V>M		No	ClinGen ExAC gnomAD
rs751228984 CA4689262	911	K>R		No	ClinGen ExAC gnomAD
rs138597669 CA4689295	916	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM131804 CA4689297 rs759098337	918	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4689296 COSM1098730 rs773822868	918	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1413411310 CA370805117	920	L>V		No	ClinGen gnomAD
rs1332722609 CA370805122	921	I>V		No	ClinGen gnomAD
rs1449177744 CA370805129	922	G>R		No	ClinGen TOPMed gnomAD
CA370805145 rs1486935709	924	V>A		No	ClinGen gnomAD
rs1486935709 CA370805147	924	V>G		No	ClinGen gnomAD
rs995982658 CA174232523	924	V>M		No	ClinGen TOPMed gnomAD
CA174232529 rs773709584	927	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	929	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA174232534 rs767319019	932	P>L		No	ClinGen Ensembl
CA370805195 rs1344349974 COSM3951561	932	P>S	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs915685262 CA174232543	934	S>F		No	ClinGen TOPMed
rs758581673 CA4689306	936	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs146212589 CA4689305	936	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA370805219 rs1190025700	937	T>A		No	ClinGen gnomAD
rs530386451	939	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA174234601 rs530386451	939	I>M		No	ClinGen ExAC TOPMed gnomAD
CA174234608 rs1003697979	940	E>K		No	ClinGen TOPMed gnomAD
rs772060226 CA4689332	941	G>S		No	ClinGen ExAC gnomAD
rs760148550 CA4689334	942	T>S		No	ClinGen ExAC gnomAD
CA4689335 rs142503445	943	Q>R		No	ClinGen ESP ExAC gnomAD
CA4689337 rs369127469	947	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1165175780 CA370805447	949	D>G		No	ClinGen gnomAD
CA4689338 rs765709190	949	D>N		No	ClinGen ExAC TOPMed gnomAD
rs750875740 CA4689339	951	A>T		No	ClinGen ExAC gnomAD
CA370805483 rs1429154434	953	L>F		No	ClinGen gnomAD
rs368912045 CA174234639	954	I>L		No	ClinGen ESP TOPMed
rs150697356 CA174234642	954	I>M		No	ClinGen ESP TOPMed gnomAD
CA370805534 rs1307626029	958	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs763550941 CA4689340	958	R>W		No	ClinGen ExAC TOPMed gnomAD
rs751638166 CA4689342	960	A>G		No	ClinGen ExAC gnomAD
CA370805551 rs751638166	960	A>V		No	ClinGen ExAC gnomAD
rs1563310683 CA370805575	962	Q>H		No	ClinGen Ensembl
rs1359761275 CA370805579	963	N>D		No	ClinGen gnomAD
rs752871623 CA4689345	964	A>S		No	ClinGen ExAC TOPMed gnomAD
CA370805591 rs752871623	964	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	965	V>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376904047 CA4689347	965	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs745699871 CA4689348	966	T>S		No	ClinGen ExAC TOPMed gnomAD
CA4689349 rs758307597	968	L>Q		No	ClinGen ExAC
CA4689352 rs565067064	969	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1166966964 CA370805647	970	E>G		No	ClinGen gnomAD
VAR_041690 CA174234702 rs56263944	970	E>K		No	ClinGen UniProt TOPMed dbSNP gnomAD
CA370805664 rs371598283	971	E>D		No	ClinGen ESP TOPMed gnomAD
rs1401470441 CA370805673	972	C>F		No	ClinGen gnomAD
CA370805667 rs1298631190	972	C>G		No	ClinGen gnomAD
CA370805670 rs1401470441	972	C>Y		No	ClinGen gnomAD
CA370805697 rs1207443613	974	R>K		No	ClinGen TOPMed
rs1314688640 CA370805716	976	M>V		No	ClinGen gnomAD
rs374175947 CA174234717	977	L>M		No	ClinGen ESP TOPMed
rs200679547 CA4689354	978	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1294947453 CA370805743	979	A>S		No	ClinGen gnomAD
rs1294947453 CA370805746	979	A>T		No	ClinGen gnomAD
rs773682209 CA4689356	979	A>V		No	ClinGen ExAC gnomAD
CA370805758 rs1227544569	980	S>L		No	ClinGen gnomAD
CA370805807 rs1202534798	985	V>A		No	ClinGen gnomAD
CA174234768 rs17853678	985	V>M		No	ClinGen Ensembl
CA370805816 rs1563310964	986	D>G		No	ClinGen Ensembl
CA174234778 rs867292238	987	A>D		No	ClinGen Ensembl
rs774754713 CA4689359	987	A>T		No	ClinGen ExAC TOPMed gnomAD
CA370805844 rs1586378524	989	N>T		No	ClinGen Ensembl
rs1429176979 CA370805857	991	L>H		No	ClinGen gnomAD
CA4689362 rs752884498	993	A>P		No	ClinGen ExAC TOPMed gnomAD
rs752884498 CA370805874	993	A>T		No	ClinGen ExAC TOPMed gnomAD
CA370805913 rs1406457750	996	Q>R		No	ClinGen gnomAD
CA370805924 rs1434129653	997	A>G		No	ClinGen gnomAD
rs1301122434 CA370805933	998	K>R		No	ClinGen TOPMed
CA4689365 rs750167755	999	V>I		No	ClinGen ExAC gnomAD
CA370805958 rs1382298398	1001	A>T		No	ClinGen gnomAD
CA370805961 rs1300068474	1001	A>V		No	ClinGen gnomAD
rs1563311172 CA370805973	1002	N>S		No	ClinGen Ensembl
CA370805985 rs1375815512	1004	A>T		No	ClinGen TOPMed gnomAD
CA370805993 rs1309949366	1004	A>V		No	ClinGen gnomAD
CA370805998 rs1235987486	1005	H>N		No	ClinGen TOPMed gnomAD
CA370806019 rs1470831056	1007	P>L		No	ClinGen TOPMed
CA4689366 rs758217972	1007	P>S		No	ClinGen ExAC gnomAD
CA174234844 rs370726123 CA4689367	1009	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA370806032 rs981205835	1009	E>G		No	ClinGen TOPMed gnomAD
CA174234834 rs981205835	1009	E>V		No	ClinGen TOPMed gnomAD

1 associated diseases with Q14289

Without disease ID

11 regional properties for Q14289

Type	Name	Position	InterPro Accession
domain	FERM domain	39 - 359	IPR000299
domain	Protein kinase domain	425 - 683	IPR000719
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	426 - 678	IPR001245
domain	Focal adhesion kinase, targeting (FAT) domain	870 - 1000	IPR005189
active_site	Tyrosine-protein kinase, active site	545 - 557	IPR008266
binding_site	Protein kinase, ATP binding site	431 - 457	IPR017441
domain	FERM central domain	145 - 254	IPR019748
domain	Band 4.1 domain	35 - 265	IPR019749
domain	Tyrosine-protein kinase, catalytic domain	425 - 679	IPR020635
domain	Focal adhesion kinase, N-terminal	39 - 137	IPR041390
domain	FAK1/PYK2, FERM domain C-lobe	261 - 368	IPR041784

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasm, perinuclear region Cell membrane; Peripheral membrane protein; Cytoplasmic side Cell junction, focal adhesion Cell projection, lamellipodium Cytoplasm, cell cortex Nucleus	Interaction with NPHP1 induces the membrane-association of the kinase Colocalizes with integrins at the cell periphery
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

19 GO annotations of cellular component

Name	Definition
apical dendrite	A dendrite that emerges near the apical pole of a neuron. In bipolar neurons, apical dendrites are located on the opposite side of the soma from the axon.
cell body	The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections.
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.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
dendritic spine	A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity.
extrinsic component of cytoplasmic side of plasma membrane	The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
growth cone	The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic.
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.
membrane raft	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
NMDA selective glutamate receptor complex	An assembly of four or five subunits which form a structure with an extracellular N-terminus and a large loop that together form the ligand binding domain. The C-terminus is intracellular. The ionotropic glutamate receptor complex itself acts as a ligand gated ion channel; on binding glutamate, charged ions pass through a channel in the center of the receptor complex. NMDA receptors are composed of assemblies of NR1 subunits (Figure 3) and NR2 subunits, which can be one of four separate gene products (NR2A-D). Expression of both subunits are required to form functional channels. The glutamate binding domain is formed at the junction of NR1 and NR2 subunits. NMDA receptors are permeable to calcium ions as well as being permeable to other ions. Thus NMDA receptor activation leads to a calcium influx into the post-synaptic cells, a signal thought to be crucial for the induction of NMDA-receptor dependent LTP and LTD.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
postsynaptic density	An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.

11 GO annotations of molecular function

Name	Definition
3-phosphoinositide-dependent protein kinase binding	Binding to a 3-phosphoinositide-dependent protein kinase.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
calmodulin-dependent protein kinase activity	Calmodulin-dependent catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; and ATP + a protein threonine = ADP + protein threonine phosphate.
NMDA glutamate receptor activity	An cation channel that opens in response to binding by extracellular glutmate, but only if glycine is also bound and the membrane is depolarized. Voltage gating is indirect, due to ejection of bound magnesium from the pore at permissive voltages.
non-membrane spanning protein tyrosine kinase activity	Catalysis of the reaction: ATP + protein L-tyrosine = ADP + protein L-tyrosine phosphate by a non-membrane spanning protein.
protein C-terminus binding	Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
protein self-association	Binding to a domain within the same polypeptide.
protein tyrosine kinase activity	Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
protein-containing complex binding	Binding to a macromolecular complex.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.

94 GO annotations of biological process

Name	Definition
activation of GTPase activity	Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP.
activation of Janus kinase activity	The process of introducing a phosphate group to a tyrosine residue of a JAK (Janus Activated Kinase) protein, thereby activating it.
adaptive immune response	An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
blood vessel endothelial cell migration	The orderly movement of an endothelial cell into the extracellular matrix in order to form new blood vessels during angiogenesis.
bone resorption	The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products.
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cell surface receptor signaling pathway	The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
cellular defense response	A defense response that is mediated by cells.
cellular response to fluid shear stress	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fluid shear stress stimulus. Fluid shear stress is the force acting on an object in a system where the fluid is moving across a solid surface.
cellular response to retinoic acid	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a retinoic acid stimulus.
chemokine-mediated signaling pathway	The series of molecular signals initiated by a chemokine binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
endothelin receptor signaling pathway	A G protein-coupled receptor signaling pathway initiated by endothelin binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
epidermal growth factor receptor signaling pathway	The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor EGFR (ERBB1) on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
focal adhesion assembly	The aggregation and bonding together of a set of components to form a focal adhesion, a complex of intracellular signaling and structural proteins that provides a structural link between the internal actin cytoskeleton and the ECM, and also function as a locus of signal transduction activity.
glial cell proliferation	The multiplication or reproduction of glial cells by cell division, resulting in the expansion of their population. Glial cells exist throughout the nervous system, and include Schwann cells, astrocytes, and oligodendrocytes among others.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
integrin-mediated signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
ionotropic glutamate receptor signaling pathway	The series of molecular signals initiated by glutamate binding to a glutamate receptor on the surface of the target cell, followed by the movement of ions through a channel in the receptor complex, and ending with the regulation of a downstream cellular process, e.g. transcription.
long-term synaptic depression	A process that modulates synaptic plasticity such that synapses are changed resulting in the decrease in the rate, or frequency of synaptic transmission at the synapse.
long-term synaptic potentiation	A process that modulates synaptic plasticity such that synapses are changed resulting in the increase in the rate, or frequency of synaptic transmission at the synapse.
MAPK cascade	An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell.
marginal zone B cell differentiation	The process in which a B cell in the spleen acquires the specialized features of a marginal zone B cell. Marginal zone B cells are localized in a distinct anatomical region of the spleen that represents the major antigen-filtering and scavenging area (by specialized macrophages resident there). It appears that they are preselected to express a BCR repertoire similar to B-1 B cells, biased toward bacterial cell wall constituents and senescent self-components (such as oxidized LDL).
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of bone mineralization	Any process that stops, prevents, or reduces the frequency, rate or extent of bone mineralization.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of muscle cell apoptotic process	Any process that decreases the rate or frequency of muscle cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a muscle cell and result in its death.
negative regulation of myeloid cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid cell differentiation.
negative regulation of neuron apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons.
negative regulation of potassium ion transport	Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
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).
oocyte maturation	A developmental process, independent of morphogenetic (shape) change, that is required for an oocyte to attain its fully functional state. Oocyte maturation commences after reinitiation of meiosis commonly starting with germinal vesicle breakdown, and continues up to the second meiotic arrest prior to fertilization.
peptidyl-tyrosine autophosphorylation	The phosphorylation by a protein of one or more of its own tyrosine amino acid residues, or a tyrosine residue on an identical protein.
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
positive regulation of actin filament polymerization	Any process that activates or increases the frequency, rate or extent of actin polymerization.
positive regulation of angiogenesis	Any process that activates or increases angiogenesis.
positive regulation of B cell chemotaxis	Any process that activates or increases the frequency, rate or extent of B cell chemotaxis.
positive regulation of cell growth	Any process that activates or increases the frequency, rate, extent or direction of cell growth.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of cell-matrix adhesion	Any process that activates or increases the rate or extent of cell adhesion to an extracellular matrix.
positive regulation of cytosolic calcium ion concentration	Any process that increases the concentration of calcium ions in the cytosol.
positive regulation of DNA biosynthetic process	Any process that activates or increases the frequency, rate or extent of DNA biosynthetic process.
positive regulation of endothelial cell migration	Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
positive regulation of ERK1 and ERK2 cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of excitatory postsynaptic potential	Any process that enhances the establishment or increases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential.
positive regulation of JNK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade.
positive regulation of JUN kinase activity	Any process that activates or increases the frequency, rate or extent of JUN kinase activity.
positive regulation of neuron projection development	Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is 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).
positive regulation of nitric oxide biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nitric oxide.
positive regulation of nitric-oxide synthase activity	Any process that activates or increases the activity of the enzyme nitric-oxide synthase.
positive regulation of peptidyl-tyrosine phosphorylation	Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine.
positive regulation of phosphatidylinositol 3-kinase activity	Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity.
positive regulation of protein kinase activity	Any process that activates or increases the frequency, rate or extent of protein kinase activity.
positive regulation of reactive oxygen species metabolic process	Any process that activates or increases the frequency, rate or extent of reactive oxygen species metabolic process.
positive regulation of synaptic transmission, glutamatergic	Any process that activates, maintains or increases the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate.
positive regulation of translation	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
positive regulation of ubiquitin-dependent protein catabolic process	Any process that activates or increases the frequency, rate or extent of ubiquitin-dependent protein catabolic process.
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
protein phosphorylation	The process of introducing a phosphate group on to a protein.
protein-containing complex assembly	The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.
regulation of actin cytoskeleton reorganization	Any process that modulates the frequency, rate or extent of actin cytoskeleton reorganization.
regulation of calcium-mediated signaling	Any process that modulates the frequency, rate or extent of calcium-mediated signaling, the process in which a cell uses calcium ions to convert an extracellular signal into a response.
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 shape	Any process that modulates the surface configuration of a cell.
regulation of cGMP-mediated signaling	Any process that modulates the rate, frequency or extent of cGMP-mediated signaling.
regulation of establishment of cell polarity	Any process that modulates the frequency, rate or extent of establishment of cell polarity.
regulation of inositol trisphosphate biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of inositol trisphosphate.
regulation of macrophage chemotaxis	Any process that modulates the rate, frequency or extent of macrophage chemotaxis. Macrophage chemotaxis is the movement of a macrophage in response to an external stimulus.
regulation of NMDA receptor activity	Any process that modulates the frequency, rate or extent of N-methyl-D-aspartate selective glutamate receptor activity.
regulation of release of sequestered calcium ion into cytosol	Any process that modulates the frequency, rate or extent of the release into the cytosolic compartment of calcium ions sequestered in the endoplasmic reticulum or mitochondria.
regulation of synaptic plasticity	A process that modulates synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers.
regulation of ubiquitin-dependent protein catabolic process	Any process that modulates the frequency, rate or extent of ubiquitin-dependent protein catabolic process.
response to calcium ion	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 calcium ion stimulus.
response to cAMP	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 cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus.
response to cation stress	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 cation stress, an increase or decrease in the concentration of positively charged ions in the environment.
response to cocaine	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 cocaine stimulus. Cocaine is a crystalline alkaloid obtained from the leaves of the coca plant.
response to ethanol	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 ethanol stimulus.
response to glucose	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 glucose stimulus.
response to hormone	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 hormone stimulus.
response to hydrogen peroxide	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 hydrogen peroxide (H2O2) stimulus.
response to hypoxia	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 stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
response to immobilization stress	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 being rendered immobile.
response to ischemia	Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a inadequate blood supply.
response to lithium ion	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 lithium (Li+) ion stimulus.
response to mechanical stimulus	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 mechanical stimulus.
response to xenobiotic stimulus	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 stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
signal complex assembly	The aggregation, arrangement and bonding together of a set of components to form a complex capable of relaying a signal within a cell.
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.
sprouting angiogenesis	The extension of new blood vessels from existing vessels into avascular tissues, this process includes the specialization of endothelial cells into leading tip and stalk cells, proliferation and migration of the endothelial cells and cell adhesion resulting in angiogenic sprout fusion or lumen formation.
stress fiber assembly	The aggregation, arrangement and bonding together of a set of components to form a stress fiber. A stress fiber is a contractile actin filament bundle that consists of short actin filaments with alternating polarity.
transmembrane receptor protein tyrosine kinase signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.
tumor necrosis factor-mediated signaling pathway	The series of molecular signals initiated by tumor necrosis factor binding to its receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
vascular endothelial growth factor receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a vascular endothelial growth factor receptor (VEGFR) on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.

32 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q00944	PTK2	Focal adhesion kinase 1	Gallus gallus (Chicken)	EV
P43405	SYK	Tyrosine-protein kinase SYK	Homo sapiens (Human)	EV
P43403	ZAP70	Tyrosine-protein kinase ZAP-70	Homo sapiens (Human)	EV
Q13882	PTK6	Protein-tyrosine kinase 6	Homo sapiens (Human)	EV
P09769	FGR	Tyrosine-protein kinase Fgr	Homo sapiens (Human)	SS
P07948	LYN	Tyrosine-protein kinase Lyn	Homo sapiens (Human)	SS
P06241	FYN	Tyrosine-protein kinase Fyn	Homo sapiens (Human)	SS
P12931	SRC	Proto-oncogene tyrosine-protein kinase Src	Homo sapiens (Human)	EV
P06239	LCK	Tyrosine-protein kinase Lck	Homo sapiens (Human)	EV
P51451	BLK	Tyrosine-protein kinase Blk	Homo sapiens (Human)	SS
P08631	HCK	Tyrosine-protein kinase HCK	Homo sapiens (Human)	EV
P07947	YES1	Tyrosine-protein kinase Yes	Homo sapiens (Human)	SS
P42685	FRK	Tyrosine-protein kinase FRK	Homo sapiens (Human)	EV
Q08881	ITK	Tyrosine-protein kinase ITK/TSK	Homo sapiens (Human)	EV
Q06187	BTK	Tyrosine-protein kinase BTK	Homo sapiens (Human)	EV
P51813	BMX	Cytoplasmic tyrosine-protein kinase BMX	Homo sapiens (Human)	SS
P42680	TEC	Tyrosine-protein kinase Tec	Homo sapiens (Human)	SS
P42679	MATK	Megakaryocyte-associated tyrosine-protein kinase	Homo sapiens (Human)	SS
P41240	CSK	Tyrosine-protein kinase CSK	Homo sapiens (Human)	SS
Q05397	PTK2	Focal adhesion kinase 1	Homo sapiens (Human)	EV
Q13470	TNK1	Non-receptor tyrosine-protein kinase TNK1	Homo sapiens (Human)	PR
Q07912	TNK2	Activated CDC42 kinase 1	Homo sapiens (Human)	EV
P16591	FER	Tyrosine-protein kinase Fer	Homo sapiens (Human)	PR
Q6J9G0	STYK1	Tyrosine-protein kinase STYK1	Homo sapiens (Human)	PR
P42684	ABL2	Tyrosine-protein kinase ABL2	Homo sapiens (Human)	SS
P00519	ABL1	Tyrosine-protein kinase ABL1	Homo sapiens (Human)	EV
P34152	Ptk2	Focal adhesion kinase 1	Mus musculus (Mouse)	SS
Q9QVP9	Ptk2b	Protein-tyrosine kinase 2-beta	Mus musculus (Mouse)	PR
Q99ML2	Tnk1	Non-receptor tyrosine-protein kinase TNK1	Mus musculus (Mouse)	PR
O35346	Ptk2	Focal adhesion kinase 1	Rattus norvegicus (Rat)	SS
P70600	Ptk2b	Protein-tyrosine kinase 2-beta	Rattus norvegicus (Rat)	PR
Q95YD4	kin-32	Inactive tyrosine-protein kinase kin-32	Caenorhabditis elegans	PR

10	20	30	40	50	60
MSGVSEPLSR	VKLGTLRRPE	GPAEPMVVVP	VDVEKEDVRI	LKVCFYSNSF	NPGKNFKLVK
70	80	90	100	110	120
CTVQTEIREI	ITSILLSGRI	GPNIRLAECY	GLRLKHMKSD	EIHWLHPQMT	VGEVQDKYEC
130	140	150	160	170	180
LHVEAEWRYD	LQIRYLPEDF	MESLKEDRTT	LLYFYQQLRN	DYMQRYASKV	SEGMALQLGC
190	200	210	220	230	240
LELRRFFKDM	PHNALDKKSN	FELLEKEVGL	DLFFPKQMQE	NLKPKQFRKM	IQQTFQQYAS
250	260	270	280	290	300
LREEECVMKF	FNTLAGFANI	DQETYRCELI	QGWNITVDLV	IGPKGIRQLT	SQDAKPTCLA
310	320	330	340	350	360
EFKQIRSIRC	LPLEEGQAVL	QLGIEGAPQA	LSIKTSSLAE	AENMADLIDG	YCRLQGEHQG
370	380	390	400	410	420
SLIIHPRKDG	EKRNSLPQIP	MLNLEARRSH	LSESCSIESD	IYAEIPDETL	RRPGGPQYGI
430	440	450	460	470	480
AREDVVLNRI	LGEGFFGEVY	EGVYTNHKGE	KINVAVKTCK	KDCTLDNKEK	FMSEAVIMKN
490	500	510	520	530	540
LDHPHIVKLI	GIIEEEPTWI	IMELYPYGEL	GHYLERNKNS	LKVLTLVLYS	LQICKAMAYL
550	560	570	580	590	600
ESINCVHRDI	AVRNILVASP	ECVKLGDFGL	SRYIEDEDYY	KASVTRLPIK	WMSPESINFR
610	620	630	640	650	660
RFTTASDVWM	FAVCMWEILS	FGKQPFFWLE	NKDVIGVLEK	GDRLPKPDLC	PPVLYTLMTR
670	680	690	700	710	720
CWDYDPSDRP	RFTELVCSLS	DVYQMEKDIA	MEQERNARYR	TPKILEPTAF	QEPPPKPSRP
730	740	750	760	770	780
KYRPPPQTNL	LAPKLQFQVP	EGLCASSPTL	TSPMEYPSPV	NSLHTPPLHR	HNVFKRHSMR
790	800	810	820	830	840
EEDFIQPSSR	EEAQQLWEAE	KVKMRQILDK	QQKQMVEDYQ	WLRQEEKSLD	PMVYMNDKSP
850	860	870	880	890	900
LTPEKEVGYL	EFTGPPQKPP	RLGAQSIQPT	ANLDRTDDLV	YLNVMELVRA	VLELKNELCQ
910	920	930	940	950	960
LPPEGYVVVV	KNVGLTLRKL	IGSVDDLLPS	LPSSSRTEIE	GTQKLLNKDL	AELINKMRLA
970	980	990	1000
QQNAVTSLSE	ECKRQMLTAS	HTLAVDAKNL	LDAVDQAKVL	ANLAHPPAE