AiPD: Autoinhibited Protein Database

Q13470

Gene name	TNK1
Protein name	Non-receptor tyrosine-protein kinase TNK1
Names	CD38 negative kinase 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8711
EC number	2.7.10.2: Protein-tyrosine kinases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

23-135 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

23-135 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

6 structures for Q13470

Entry ID	Method	Resolution	Chain	Position	Source
7T8J	X-ray	189 A	A	590-666	PDB
7TCY	X-ray	154 A	A/B	589-666	PDB
7TDY	X-ray	153 A	A	590-666	PDB
7U4W	X-ray	210 A	A	590-666	PDB
7U4Z	X-ray	203 A	A	590-666	PDB
AF-Q13470-F1	Predicted				AlphaFoldDB

630 variants for Q13470

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA8344941 RCV001090113 rs767381816	131	H>Q	Frontotemporal dementia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
rs1287741034 CA397773874	5	A>G		No	ClinGen gnomAD
rs756404365 CA8344809	5	A>S		No	ClinGen ExAC gnomAD
rs1285264649 CA397773920	9	W>*		No	TOPMed gnomAD ClinGen
rs1285264649 CA397773921	9	W>C		No	TOPMed gnomAD ClinGen
CA397773911 rs1230417304	9	W>G		No	ClinGen gnomAD
CA8344814 rs754186504	11	L>M		No	ClinGen ExAC
CA8344815 rs757581070	11	L>Q		No	ClinGen ExAC gnomAD
CA8344817 rs374692022	14	L>F		No	ESP ExAC TOPMed ClinGen
CA8344818 rs757897037	14	L>R		No	ExAC gnomAD ClinGen
CA8344822 rs199784773	15	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8344821 rs199784773	15	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs577697153 CA8344820	15	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC gnomAD ClinGen NCI-TCGA
CA287421291 rs1037364088	16	D>N		No	ClinGen TOPMed
rs1159418109 CA397774016	18	Q>R		No	ClinGen gnomAD
CA8344825 rs769485134	19	L>V		No	ClinGen ExAC gnomAD
rs1396306382 CA397774033	19	L>W		No	TOPMed gnomAD ClinGen
CA8344826 rs763044398	20	A>T		No	ClinGen ExAC gnomAD
rs898866321 CA287421330	23	Y>*		No	TOPMed gnomAD ClinGen
rs1597676366 CA397774115	24	W>C		No	ClinGen Ensembl
rs767680748 CA8344827	26	I>V		No	ClinGen ExAC gnomAD
CA8344828 rs775749356	27	L>P		No	ClinGen ExAC gnomAD
CA8344829 rs775749356	27	L>R		No	ClinGen ExAC gnomAD
TCGA novel	28	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1488980270 CA397774203	29	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA397774234 rs1307991311	31	N>H		No	ClinGen TOPMed gnomAD
CA8344832 rs764324329	32	V>G		No	ExAC gnomAD ClinGen
rs1280356488 CA397774271	33	T>A		No	gnomAD ClinGen
CA8344833 rs754019389	33	T>I		No	ClinGen ExAC gnomAD
rs374753488 CA8344835	34	R>Q		No	ESP ExAC gnomAD ClinGen
CA8344834 rs757575289	34	R>W		No	ExAC TOPMed gnomAD ClinGen
CA287421391 rs200263301	37	H>Y		No	Ensembl ClinGen
rs368513840 CA287421392	38	F>I		No	ClinGen ESP TOPMed
CA287421427 rs200735706	39	D>H		No	ESP ExAC TOPMed gnomAD ClinGen
CA8344837 rs200735706	39	D>N		No	ESP ExAC TOPMed gnomAD ClinGen
CA397774505 rs1306547576	45	D>N		No	TOPMed ClinGen
CA8344839 rs746479432	46	L>M		No	ClinGen ExAC gnomAD
rs780834064 CA8344841	48	G>S		No	ClinGen ExAC TOPMed gnomAD
CA8344842 rs747826892	50	G>D		No	ClinGen ExAC gnomAD
rs769701142 CA8344843	53	R>W		No	ClinGen ExAC TOPMed gnomAD
CA397774700 rs1435769696	55	A>T		No	gnomAD ClinGen
CA287421628 rs973751947	56	Q>R		No	ClinGen TOPMed gnomAD
CA8344872 rs566127443	57	R>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA8344873 rs752097496	57	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA8344874 rs760013288	58	R>K		No	ClinGen ExAC TOPMed gnomAD
rs377034418 CA8344875	58	R>S		No	ESP ExAC gnomAD ClinGen
CA397774888 rs1418680438	59	L>P		No	gnomAD ClinGen
rs752105103 CA397774879	59	L>V		No	ClinGen ExAC gnomAD
CA397774928 rs1399211351	61	E>D		No	TOPMed ClinGen
rs753542920 CA397774911	61	E>K		No	ExAC TOPMed gnomAD ClinGen
rs753542920 CA8344879	61	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs536341401 CA8344880	65	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs890166411 CA287421677	65	R>S		No	TOPMed ClinGen
rs907955923 CA397775005	67	R>G		No	gnomAD ClinGen
CA8344881 rs374420688	67	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA287421689 rs907955923	67	R>S		No	ClinGen gnomAD
CA8344882 rs555095271	70	P>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs748399921 CA287421692	70	P>T		No	Ensembl ClinGen
CA397775077 rs1467366145	73	K>Q		No	TOPMed ClinGen
CA397775085 rs1373259827	73	K>R		No	gnomAD ClinGen
CA8344883 rs758306738	74	N>D		No	ExAC TOPMed gnomAD ClinGen
CA397775096 rs758306738	74	N>H		No	ClinGen ExAC TOPMed gnomAD
CA397775158 rs1269688273	78	K>E		No	ClinGen gnomAD
CA397775162 rs769869038	78	K>M		No	ClinGen ExAC gnomAD
CA397775165 rs1206162664	78	K>N		No	gnomAD ClinGen
CA8344886 rs769869038	78	K>T		No	ExAC gnomAD ClinGen
rs756176354 CA8344904	80	L>H		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	80	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397776810 rs756176354	80	L>P		No	ClinGen ExAC TOPMed gnomAD
CA8344907 rs771022480	81	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA8344906 rs553496441	81	G>R		No	1000Genomes ExAC gnomAD ClinGen
rs1181190669 CA397776939	84	A>T		No	TOPMed ClinGen
CA8344909 rs774652002	85	P>S		No	ClinGen ExAC gnomAD
rs772487814 CA8344911	87	H>D		No	ClinGen ExAC gnomAD
rs776133397 CA8344912	87	H>P		No	ExAC gnomAD ClinGen
rs763673215 CA397777057	88	K>E		No	ClinGen ExAC gnomAD
rs763673215 CA8344914	88	K>Q		No	ClinGen ExAC gnomAD
rs1329684241 CA397777142	90	P>T		No	ClinGen gnomAD
CA397777168 rs1238368291	91	T>P		No	TOPMed ClinGen
CA397777248 rs1065020	94	S>A		No	gnomAD ClinGen
rs115923812 CA287421887	94	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	1000Genomes gnomAD ClinGen NCI-TCGA
CA287421863 rs1065020	94	S>T		No	gnomAD ClinGen
rs115923812 CA397777278	94	S>W		No	ClinGen 1000Genomes gnomAD
TCGA novel	96	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1291742593 CA397777341	97	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs750095363 CA8344919	98	R>G		No	ExAC TOPMed gnomAD ClinGen
rs766220710 CA8344921	98	R>P		No	ClinGen ExAC TOPMed gnomAD
rs766220710 CA8344920	98	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8344918 rs750095363	98	R>W		No	ClinGen ExAC TOPMed gnomAD
CA397777393 rs1597677306	99	H>P		No	ClinGen Ensembl
CA8344922 rs376962991	99	H>Y		No	ESP ExAC TOPMed gnomAD ClinGen
CA397777401 rs1193960369	100	L>F		No	ClinGen gnomAD
rs376702418 CA8344924	101	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA287421935 rs985728367	102	E>K		No	TOPMed ClinGen
rs996021875 CA287421964	104	E>D		No	TOPMed ClinGen
rs757368247 CA397777526	104	E>K		No	ExAC TOPMed gnomAD ClinGen
rs757368247 CA8344925	104	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA397777566 rs778933214 CA397777567	105	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8344927 rs778933214	105	G>W		No	ExAC TOPMed gnomAD ClinGen
rs781321814	106	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8344928 rs746164955	107	L>H		No	ClinGen ExAC gnomAD
rs1291416231 CA397777724	110	L>P		No	gnomAD ClinGen
rs1441184707 CA397777753	111	I>T		No	gnomAD ClinGen
CA8344931 rs747486848	114	G>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	114	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8344932 rs769244750	115	A>T		No	ClinGen ExAC gnomAD
rs1177527430 CA397777883	116	V>A		No	TOPMed ClinGen
CA397777852 rs1380389900	116	V>I		No	ClinGen TOPMed
rs773265781 CA287421993	118	R>K		No	Ensembl ClinGen
rs1308137874 CA397777944	118	R>S		No	ClinGen TOPMed gnomAD
rs944456187 CA287422016	119	G>A		No	ClinGen TOPMed
rs777291872 CA8344933	122	L>P		No	ClinGen ExAC TOPMed gnomAD
rs777291872 CA397778043	122	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA397778082 rs1289451791	123	G>A		No	ClinGen TOPMed
rs560677344 CA397778144	125	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8344935 rs560677344	125	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8344936 rs201180891	127	F>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA287422079 CA397778194 rs762718215	127	F>L		No	ClinGen ExAC TOPMed gnomAD
CA8344938 rs368835642	128	G>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA8344939 rs368835642	128	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs759351798 CA8344940	129	V>L		No	ClinGen ExAC gnomAD
rs1162007857 CA397778271	131	H>N		No	gnomAD ClinGen
rs752680170 CA8344942	132	R>*		No	ClinGen ExAC gnomAD
rs1317051507 CA397778311	132	R>Q		No	ClinGen TOPMed gnomAD
CA397778382 rs1264349781	134	L>P		No	ClinGen Ensembl
rs779105184 CA8344944	136	T>M		No	ExAC TOPMed gnomAD ClinGen
CA287422130 rs935467210	138	P>L		No	TOPMed gnomAD ClinGen
rs1395976723 CA397778505	139	S>N		No	ClinGen gnomAD
rs1015394527 CA287422344	146	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs778168921 CA8344972	147	V>F		No	ExAC gnomAD ClinGen
CA8344971 rs778168921	147	V>I		No	ClinGen ExAC gnomAD
rs770428896 CA397778881	148	K>R		No	ExAC TOPMed gnomAD ClinGen
rs770428896 CA8344974	148	K>T		No	ClinGen ExAC TOPMed gnomAD
CA397778947 rs1377862467	151	R>Q		No	gnomAD ClinGen
CA8344976 rs745575133	151	R>W		No	ExAC TOPMed gnomAD ClinGen
CA8344977 rs771829370	152	V>G		No	ExAC gnomAD ClinGen
rs376904642 CA287422395	152	V>L		No	ClinGen ESP
TCGA novel	153	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397779004 rs1352857517	154	P>S		No	TOPMed gnomAD ClinGen
CA397779027 rs1280410155	155	E>K		No	ClinGen gnomAD
rs1366630642 CA397779040	156	G>S		No	ClinGen gnomAD
CA397779067 rs1305364017	157	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs1169543307 CA397779094	158	M>R		No	ClinGen gnomAD
CA287422429 rs953290587	159	G>D		No	TOPMed ClinGen
CA8344979 rs760417890	162	L>V		No	ClinGen ExAC TOPMed
rs764043056 CA8344980	163	G>E		No	ClinGen ExAC gnomAD
CA397779202 rs1204381471	163	G>W		No	ClinGen gnomAD
CA8344982 rs763121573	165	F>Y		No	ExAC gnomAD ClinGen
rs1204747139 CA397779256	167	R>*		No	ClinGen TOPMed gnomAD
rs369096793 CA397779289	168	E>D		No	ESP ExAC TOPMed gnomAD ClinGen
rs191336137 CA8344983	168	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8344984 rs191336137	168	E>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs965711073 CA287422467	169	V>L		No	ClinGen TOPMed
rs767665856 CA397779318	170	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8344986 rs767665856	170	S>W		No	ClinGen ExAC gnomAD
CA397779322 rs1323820069	171	V>L		No	TOPMed gnomAD ClinGen
CA8344988 rs534887492	172	M>T		No	ExAC TOPMed gnomAD ClinGen
rs372706290 CA8344987	172	M>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs1168543004 CA397779399	173	M>I		No	ClinGen gnomAD
rs924331246 CA287422484	174	N>K		No	ClinGen TOPMed gnomAD
CA397779452 rs1302888800	175	L>F		No	ClinGen TOPMed
CA397779486 rs1451347252	176	E>G		No	TOPMed ClinGen
CA397779458 rs1411787134	176	E>K		No	gnomAD ClinGen
rs1597677983 CA397779507	177	H>P		No	Ensembl ClinGen
CA397779525 rs1403387554	177	H>Q		No	ClinGen TOPMed
CA397779537 rs778279783	178	P>L		No	ExAC gnomAD ClinGen
rs778279783 CA8344989	178	P>R		No	ClinGen ExAC gnomAD
CA397779573 rs1567645312 CA397779568	179	H>Q		No	Ensembl ClinGen
CA287422496 rs61730814	179	H>Y		No	ClinGen TOPMed gnomAD
rs749855450 CA8344990	180	V>M		No	ExAC gnomAD ClinGen
CA8344993 rs745487710	182	R>C		No	ClinGen ExAC gnomAD
rs567049969 CA8344994	182	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs901661884 CA287422525	183	L>V		No	gnomAD ClinGen
rs1054328511 CA287422528	184	H>Q		No	TOPMed gnomAD ClinGen
CA397779713 rs1567645340	186	L>F		No	Ensembl ClinGen
CA397779733 rs1466814083	187	V>L		No	gnomAD ClinGen
CA397779754 rs1597678068	188	L>P		No	ClinGen Ensembl
rs746759851 CA8344996	188	L>V		No	ClinGen ExAC gnomAD
rs768402216 CA8344997	189	G>A		No	ClinGen ExAC gnomAD
CA397779830 rs1476677660	191	P>H		No	ClinGen gnomAD
CA397779833 rs1476677660	191	P>R		No	ClinGen gnomAD
CA397779821 rs1371921316	191	P>T		No	gnomAD ClinGen
CA397779863 rs1414494118	192	L>R		No	TOPMed ClinGen
rs1181330739 CA397779894	193	Q>*		No	ClinGen TOPMed
CA287422634 rs113659599	195	V>M		No	Ensembl ClinGen
CA397780078 rs1280316297	196	M>T		No	ClinGen gnomAD
rs749885264 CA8345010	197	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	200	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397780217 rs1190070882	201	L>V		No	ClinGen gnomAD
rs1259526445 CA397780300	206	A>P		No	Ensembl ClinGen
rs757858999 CA8345011	207	R>H		No	ExAC gnomAD ClinGen
rs779690381 CA397780358	209	T>K		No	ExAC TOPMed gnomAD ClinGen
rs779690381 CA8345013	209	T>M		No	ExAC TOPMed gnomAD ClinGen
rs969509504 CA287422700	211	P>Q		No	gnomAD ClinGen
rs969509504 CA397780395	211	P>R		No	gnomAD ClinGen
rs746697498 CA8345014	211	P>S		No	ExAC gnomAD ClinGen
rs1337893217 CA397780454	215	P>S		No	gnomAD ClinGen
CA397780449 rs1337893217	215	P>T		No	ClinGen gnomAD
rs1185558331 CA397780470	216	P>A		No	ClinGen gnomAD
rs980968043 CA287422741	216	P>R		No	ClinGen Ensembl
rs1597678463 CA397780498	218	L>V		No	ClinGen Ensembl
CA8345015 rs768476977	220	A>D		No	ExAC TOPMed gnomAD ClinGen
CA397780536 rs768476977	220	A>G		No	ClinGen ExAC TOPMed gnomAD
rs565938245 CA397780544	221	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1597678493 CA397780566	222	L>R		No	ClinGen Ensembl
CA397780567 rs1388251357	223	C>S		No	TOPMed ClinGen
rs1194272605 CA397780637	226	L>P		No	gnomAD ClinGen
rs747989580 CA8345017	227	R>Q		No	ClinGen ExAC gnomAD
rs958341088 CA287422765	227	R>W		No	TOPMed gnomAD ClinGen
CA397780690 rs1302405308	229	L>P		No	ClinGen TOPMed
CA397780721 rs1455502881	231	G>A		No	gnomAD ClinGen
rs1597678557 CA397780769	234	A>V		No	ClinGen Ensembl
rs1453174880 CA397780810	237	G>R		No	TOPMed ClinGen
rs769808188 CA8345019	238	A>T		No	ClinGen ExAC gnomAD
rs778186900 CA287422776	239	R>C		No	TOPMed gnomAD ClinGen
rs778186900 CA287422773	239	R>G		No	ClinGen TOPMed gnomAD
CA287422782 rs866981836	239	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs867648726 CA287422788	240	G>W		No	ClinGen Ensembl
CA287422804 rs866429970	243	H>N		No	gnomAD ClinGen
CA397780902 rs866429970	243	H>Y		No	gnomAD ClinGen
CA287422812 rs990211607	244	R>*		No	gnomAD ClinGen
CA397780947 rs1567645642	245	D>G		No	ClinGen Ensembl
CA287422818 rs866780376	245	D>Y		No	Ensembl ClinGen
CA287422836 rs867377991	247	A>D		No	ClinGen Ensembl
rs1237101564 CA397780972	247	A>S		No	gnomAD ClinGen
rs1567645659 CA397780981	248	T>A		No	Ensembl ClinGen
rs866218714 CA287422843	249	R>L		No	ClinGen Ensembl
rs1306978177 CA397781006	250	N>S		No	gnomAD ClinGen
rs1253163398 CA397781026	251	L>R		No	gnomAD ClinGen
CA397781037 rs1213340828	252	L>P		No	gnomAD ClinGen
rs373016915 CA8345023	254	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8345024 rs373016915	254	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1469692039 CA397781055	254	A>V		No	ClinGen gnomAD
TCGA novel	255	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397781073 rs760852427	256	P>L		No	ClinGen ExAC TOPMed gnomAD
CA287422848 rs760852427	256	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA8345025 rs760852427	256	P>R		No	ExAC TOPMed gnomAD ClinGen
rs1258509983 CA397781079	257	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs1426670404 CA397781084	258	T>A		No	gnomAD ClinGen
rs1234977454 CA397781094	259	I>V		No	ClinGen TOPMed
rs548689113 CA8345026	260	K>E		No	1000Genomes ExAC gnomAD ClinGen
rs931808866 CA287422895	260	K>R		No	TOPMed gnomAD ClinGen
CA8345029 rs570180203	264	F>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1342243189 CA397781185	265	G>R		No	TOPMed ClinGen
rs1597678862 CA397781189	265	G>V		No	ClinGen Ensembl
CA397781223 rs1256260842	268	R>Q		No	ClinGen TOPMed
CA397781232 rs1318745639	269	P>S		No	TOPMed gnomAD ClinGen
TCGA novel	270	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1271571240 CA397781262	271	G>R		No	ClinGen gnomAD
rs1428911527 CA397781285	272	G>A		No	ClinGen TOPMed
CA397781295 rs1336673333	273	A>T		No	ClinGen TOPMed gnomAD
CA8345031 rs534996806	275	G>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA287423005 rs948174841	276	R>C		No	TOPMed ClinGen
rs779479974 CA8345032	276	R>H		No	ClinGen ExAC TOPMed gnomAD
CA397781361 rs779479974	276	R>P		No	ClinGen ExAC TOPMed gnomAD
CA397781378 rs1188237911	277	Y>C		No	ClinGen TOPMed gnomAD
CA287423029 rs754548752	278	V>A		No	ClinGen ExAC TOPMed gnomAD
rs754548752 CA8345034	278	V>D		No	ExAC TOPMed gnomAD ClinGen
CA8345033 rs55939858 VAR_041863	278	V>I		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8345035 rs781016874	279	M>I		No	ClinGen ExAC gnomAD
TCGA novel	279	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397781405 rs1262146805	279	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs1046507763 CA287423074	280	G>D		No	ClinGen Ensembl
rs1002356948 CA287423089	282	P>R		No	ClinGen TOPMed
rs535894895 CA287423095	283	R>C		No	gnomAD ClinGen
rs535894895 CA397781447	283	R>S		No	gnomAD ClinGen
CA397781484 rs1414319942	285	I>M		No	ClinGen gnomAD
rs1291521299 CA397781491	286	P>S		No	gnomAD ClinGen
rs756916099 CA287423107	287	Y>*		No	ClinGen TOPMed gnomAD
rs1357550304 CA397781509	287	Y>C		No	gnomAD ClinGen
CA397781520 rs1283242373	288	A>T		No	gnomAD ClinGen
CA8345045 rs762097482	290	C>G		No	ClinGen ExAC gnomAD
CA397781662 rs1597679489	290	C>W		No	Ensembl ClinGen
rs1487336959 CA397781681	291	A>V		No	ClinGen Ensembl
CA8345046 rs201128948	292	P>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA397781708 rs1269290717	293	E>A		No	ClinGen TOPMed
rs1269290717 CA397781711	293	E>G		No	TOPMed ClinGen
rs969798415 CA287423328	294	S>G		No	TOPMed ClinGen
CA287423338 rs773687641	294	S>I		No	ClinGen ExAC TOPMed gnomAD
CA8345047 rs773687641	294	S>N		No	ExAC TOPMed gnomAD ClinGen
CA397781760 rs1597679554	295	L>P		No	ClinGen Ensembl
rs749542106 CA287423381	296	R>C		No	TOPMed ClinGen
CA397781765 rs1230890831	296	R>H		No	ClinGen TOPMed gnomAD
CA397781769 rs1230890831	296	R>L		No	TOPMed gnomAD ClinGen
rs766941720 CA8345049	297	H>Q		No	ExAC gnomAD ClinGen
rs1481414998 CA397781773	297	H>Y		No	gnomAD ClinGen
rs61730812 CA8345050	299	A>D		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs61730812 CA8345051	299	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	299	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA287423404 rs375936085	300	F>L		No	ClinGen Ensembl
CA8345052 rs767215080	304	S>L		No	ExAC gnomAD ClinGen
CA397781940 rs376599357	306	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8345053 rs376599357	306	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA397781986 rs1415167004	308	M>R		No	ClinGen gnomAD
CA287423436 rs1002262081	312	T>R		No	ClinGen TOPMed gnomAD
TCGA novel	314	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	314	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397782159 rs1160215797	316	M>I		No	gnomAD ClinGen
rs1331732060 CA397782228	318	S>C		No	gnomAD ClinGen
rs778177318 CA8345058	323	P>A		No	ExAC TOPMed gnomAD ClinGen
rs747001784 CA8345060	323	P>L		No	ClinGen ExAC gnomAD
rs778177318 CA8345059	323	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1270295302 CA397782399	324	W>C		No	ClinGen gnomAD
rs1213412714 CA397782370	324	W>R		No	ClinGen gnomAD
rs1308848471 CA397782428	325	A>G		No	ClinGen gnomAD
TCGA novel	325	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8345062 rs776828527	326	G>E		No	ExAC gnomAD ClinGen
rs768726019 CA8345061	326	G>R		No	ExAC TOPMed gnomAD ClinGen
CA397782463 rs770114220	327	V>F		No	ExAC TOPMed gnomAD ClinGen
CA8345064 rs770114220	327	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1478644771 CA397782476	328	P>S		No	gnomAD ClinGen
rs370387577 CA287423507	329	P>A		No	ESP ExAC gnomAD ClinGen
CA8345066 rs370387577	329	P>S		No	ESP ExAC gnomAD ClinGen
CA8345067 rs766740742	330	Y>F		No	ClinGen ExAC gnomAD
rs759109823 CA397782571	331	L>I		No	ExAC gnomAD ClinGen
rs759109823 CA8345069	331	L>V		No	ClinGen ExAC gnomAD
CA8345070 rs767190353	334	Q>P		No	ExAC gnomAD ClinGen
CA397782672 rs1327678734	335	R>L		No	gnomAD ClinGen
rs1429968636 CA397782715	337	E>G		No	gnomAD ClinGen
rs1429968636 CA397782718	337	E>V		No	gnomAD ClinGen
CA397782743 rs1363499864	338	D>G		No	gnomAD ClinGen
CA8345074 rs763873942	338	D>N		No	ExAC TOPMed gnomAD ClinGen
VAR_041864	339	R>K	a lung adenocarcinoma sample; somatic mutation [UniProt]	No	UniProt
CA397782790 rs778650950	340	A>G		No	ExAC gnomAD ClinGen
rs753529931 CA8345076	340	A>P		No	ExAC TOPMed gnomAD ClinGen
rs753529931 CA8345075	340	A>S		No	ExAC TOPMed gnomAD ClinGen
rs753529931 CA397782789	340	A>T		No	ClinGen ExAC TOPMed gnomAD
rs778650950 CA8345077	340	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA397782810 rs1334604454	341	R>Q		No	ClinGen gnomAD
CA287423592 rs369725786	341	R>W		No	ClinGen Ensembl
rs1383350334 CA397782823	342	L>V		No	Ensembl ClinGen
CA287423618 rs530009570	343	P>H		No	1000Genomes ClinGen
TCGA novel	343	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1283760291 CA397782846	344	R>K		No	ClinGen TOPMed
CA397782863 rs1292483951	345	P>L		No	ClinGen gnomAD
rs368705526 CA8345078	346	P>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs1240408182 CA397782927	349	S>C		No	ClinGen gnomAD
TCGA novel	349	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8345080 rs781288628	350	R>K		No	ClinGen ExAC gnomAD
CA287423626 rs1021199207	352	L>V		No	ClinGen Ensembl
rs1417340697 CA397782993	353	Y>C		No	ClinGen gnomAD
CA397783043 rs1223336743	355	L>H		No	ClinGen TOPMed
CA397783059 rs1166770865	356	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1400006456 CA397783107	357	L>F		No	ClinGen gnomAD
CA8345083 rs563727404	358	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8345084 rs773495087	359	C>F		No	ExAC ClinGen
CA397783161 rs1355220860	359	C>W		No	ClinGen TOPMed gnomAD
rs771390706 CA8345086	360	W>*		No	ClinGen ExAC gnomAD
CA8345085 rs749545756	360	W>R		No	ExAC gnomAD ClinGen
rs774703658 CA8345088	361	A>G		No	ExAC TOPMed gnomAD ClinGen
rs774703658 CA397783204	361	A>V		No	ClinGen ExAC TOPMed gnomAD
rs771681552 CA8345090	362	P>L		No	ExAC gnomAD ClinGen
rs760286925 CA8345092	363	H>D		No	ClinGen ExAC TOPMed gnomAD
CA397783241 rs760286925	363	H>N		No	ExAC TOPMed gnomAD ClinGen
rs1597680132 CA397783261	363	H>P		No	Ensembl ClinGen
rs777072179	363	H>T	Variant assessed as Somatic; 6.24e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs760286925 CA8345093	363	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA397783286 rs1281786332	364	P>L		No	TOPMed gnomAD ClinGen
CA397783297 rs1489560595	365	A>T		No	ClinGen gnomAD
rs1217361106 CA397783338	366	D>N		No	ClinGen gnomAD
CA397783335 rs1217361106	366	D>Y		No	ClinGen gnomAD
CA397783366 rs1256932465	367	R>W		No	ClinGen gnomAD
CA287423691 rs868583775	369	S>I		No	Ensembl ClinGen
CA397783476 rs1270057076	372	H>R		No	ClinGen Ensembl
CA8345095 rs761509296	372	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA397783515 rs1349110075	374	E>Q		No	gnomAD ClinGen
rs1368802914 CA397783562	375	G>E		No	ClinGen gnomAD
TCGA novel	378	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1350712774 CA397785155	380	A>G		No	TOPMed ClinGen
rs1329676800 CA397785149	380	A>S		No	ClinGen gnomAD
CA397785158 rs1350712774	380	A>V		No	TOPMed ClinGen
CA397785167 rs368231564	381	G>E		No	ESP TOPMed gnomAD ClinGen
rs202045448 CA8345107	381	G>R		No	ExAC TOPMed gnomAD ClinGen
CA287425256 rs368231564	381	G>V		No	ClinGen ESP TOPMed gnomAD
rs1235431689 CA397785179	382	P>S		No	ClinGen gnomAD
rs1040046472 CA287425284	383	S>L		No	TOPMed gnomAD ClinGen
rs1194326837 CA397785204	384	E>D		No	gnomAD ClinGen
rs760198797 CA8345110	385	A>T		No	ClinGen ExAC gnomAD
rs1458085310 CA397785217	386	C>*		No	ClinGen gnomAD
CA397785224 rs1192929057	387	C>Y		No	ClinGen gnomAD
rs768280872 CA8345111	388	V>L		No	ExAC gnomAD ClinGen
CA397785246 rs1434851466	389	R>M		No	gnomAD ClinGen
CA397785248 rs1176091818	389	R>S		No	ClinGen gnomAD
CA397785260 rs1567647435	390	D>V		No	Ensembl ClinGen
CA8345112 rs776135030	393	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8345115 rs573738923	396	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8345116 rs762748380	396	A>V		No	ExAC TOPMed gnomAD ClinGen
CA8345118 rs76631241	398	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756131032 CA8345119	399	M>K		No	ClinGen ExAC gnomAD
CA287425389 rs751075469	400	E>D		No	Ensembl ClinGen
rs1302023319 CA397785393	402	G>V		No	TOPMed gnomAD ClinGen
CA397785414 rs1225487992	404	P>L		No	gnomAD ClinGen
rs1225487992 CA397785413	404	P>R		No	ClinGen gnomAD
CA397785407 rs1325971285	404	P>T		No	ClinGen gnomAD
CA397785432 rs1392364703	406	T>K		No	ClinGen gnomAD
rs1318877771 CA397785463	409	E>K		No	ClinGen TOPMed gnomAD
CA397785476 rs1212775738	410	G>C		No	gnomAD ClinGen
CA397785472 rs1212775738	410	G>S		No	ClinGen gnomAD
TCGA novel	411	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8345135 rs774247073	413	S>F		No	ClinGen ExAC gnomAD
rs767389856 CA8345137	414	F>S		No	ExAC TOPMed gnomAD ClinGen
CA287425716 CA8345139 rs757301286	416	S>R		No	ClinGen ExAC TOPMed gnomAD
rs371780248 CA8345142	418	D>E		No	ClinGen ExAC TOPMed gnomAD
rs750742958 CA8345141	418	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8345143 rs533124207	419	S>P		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA8345145 rs755464330	422	W>C		No	ClinGen ExAC gnomAD
CA397785655 rs1597683595	422	W>G		No	ClinGen Ensembl
CA397785692 rs1228611088	425	Q>*		No	gnomAD ClinGen
rs371671184 CA8345147	425	Q>H		No	ESP ExAC gnomAD ClinGen
rs772835824 CA8345149	427	G>C		No	ClinGen ExAC TOPMed gnomAD
rs527582035 CA8345151	428	R>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA8345152 rs774088092	428	R>H		No	ExAC TOPMed gnomAD ClinGen
CA8345153 rs759275761	429	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8345154 rs759275761	429	T>S		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	430	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397785784 rs1182755087	433	G>A		No	ClinGen gnomAD
rs775297078 CA8345155	433	G>S		No	ClinGen ExAC gnomAD
rs761951897 CA8345156	434	S>G		No	ClinGen ExAC gnomAD
rs765473026 CA8345157	438	S>L		No	ExAC TOPMed gnomAD ClinGen
rs199995562 CA8345159	441	T>M		No	ESP ExAC TOPMed gnomAD ClinGen
rs373267246 CA8345162	443	A>E		No	ESP ExAC TOPMed gnomAD ClinGen
rs751893395 CA8345161	443	A>T		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	444	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs567693996 CA8345163	445	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs556203541 CA287425838	446	G>A		No	ClinGen 1000Genomes gnomAD
rs556203541 CA397785973	446	G>E		No	ClinGen 1000Genomes gnomAD
CA397785991 rs755597216	447	G>A		No	ClinGen ExAC gnomAD
CA8345165 rs755597216	447	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1409951441 CA397785982	447	G>S		No	gnomAD ClinGen
CA397785997 rs755597216	447	G>V		No	ExAC gnomAD ClinGen
rs938670318 CA287425844	450	A>G		No	ClinGen Ensembl
rs1216915038 CA397786055	451	T>I		No	ClinGen gnomAD
CA8345166 rs777301066	452	R>C		No	ClinGen ExAC TOPMed
rs748824487 CA287425857	452	R>H		No	ExAC TOPMed gnomAD ClinGen
CA8345167 rs748824487	452	R>L		No	ClinGen ExAC TOPMed gnomAD
CA397786073 rs1312369368	453	P>L		No	gnomAD ClinGen
rs1237929259 CA397786172	457	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397786196 rs1330486964	458	T>S		No	TOPMed ClinGen
rs745612814 CA8345170	459	P>L		No	ExAC gnomAD ClinGen
TCGA novel	460	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867355063 CA287425910	460	A>T		No	ClinGen Ensembl
CA397786270 rs117725656	461	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs117725656 CA8345172	461	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139190181 CA8345171	461	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760579813 CA8345173	462	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1427395991 CA397786291	463	D>Y		No	ClinGen gnomAD
rs200575657 CA8345174	465	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs773387572 CA8345175	467	G>E		No	ExAC gnomAD ClinGen
CA397786424 rs1387059487	468	S>N		No	ClinGen TOPMed
CA8345176 rs763138071	469	I>T		No	ClinGen ExAC gnomAD
rs1467051092 CA397786469	470	D>A		No	ClinGen gnomAD
CA8345177 rs376128782	471	G>R		No	ClinGen ExAC gnomAD
CA397786639 rs199666679	472	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754412678 CA8345202	472	D>N		No	ClinGen ExAC TOPMed gnomAD
rs778336594 CA8345204	473	R>G		No	ClinGen ExAC gnomAD
rs375682639 CA8345205	473	R>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs375682639 CA397786657	473	R>K		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs200151800 CA8345206	474	K>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA287426266 rs921307816	475	K>E		No	ClinGen TOPMed gnomAD
CA397786724 rs1400061503	476	A>T		No	ClinGen gnomAD
TCGA novel	477	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA287426271 rs770550848	479	W>C		No	ClinGen gnomAD
CA287426273 rs975202511	480	D>N		No	Ensembl ClinGen
CA8345207 rs779780300	480	D>V		No	ClinGen ExAC TOPMed gnomAD
rs754886639 CA8345209	481	A>V	Variant assessed as Somatic; 4.882e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1266717663 CA397786935	483	P>L		No	ClinGen TOPMed gnomAD
rs774253029 CA8345213	485	R>P		No	ClinGen ExAC TOPMed gnomAD
rs774253029 CA8345214	485	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA8345212 rs567236671	485	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA8345216 rs775789118	486	G>S		No	ExAC gnomAD ClinGen
CA397787088 rs1283943175	487	Q>R		No	gnomAD ClinGen
CA397787249 rs1356017693	491	M>I		No	TOPMed gnomAD ClinGen
CA8345217 rs761027715	492	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1255648741 CA397787297	494	E>K		No	ClinGen gnomAD
rs1440919170 CA397787373	496	M>I		No	gnomAD ClinGen
CA8345218 rs764503070	496	M>K		No	ClinGen ExAC
CA8345241 rs765605513	499	I>M		No	ClinGen ExAC TOPMed gnomAD
CA8345242 rs201460579	501	R>G		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA8345243 rs762355543	501	R>T		No	ExAC TOPMed gnomAD ClinGen
CA397788998 rs1300645053	504	E>*		No	ClinGen gnomAD
CA397789083 rs751223940	508	S>F		No	ClinGen ExAC TOPMed gnomAD
rs751223940 CA8345245	508	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs752478675 CA8345248	510	G>S		No	ClinGen ExAC TOPMed gnomAD
CA8345249 rs183661270	512	R>C		No	1000Genomes ExAC gnomAD ClinGen
CA8345250 rs369367062	512	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs753875023 CA397789135	513	P>S		No	ClinGen ExAC TOPMed gnomAD
rs753875023 CA8345251	513	P>T		No	ExAC TOPMed gnomAD ClinGen
CA8345252 rs55641092 VAR_041865	514	T>K		No	1000Genomes ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs372800192 CA397789188	515	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs372800192 CA8345253	515	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA397789175 rs1264633909	515	G>R		No	ClinGen gnomAD
rs372800192 CA8345254	515	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1422393371 CA397789226	517	G>D		No	ClinGen TOPMed gnomAD
CA397789227 rs1422393371	517	G>V		No	ClinGen TOPMed gnomAD
rs1206254185 CA397789255	519	S>T		No	TOPMed ClinGen
rs1168928727 CA397789332	520	P>L		No	ClinGen gnomAD
rs868714070 CA287429890	520	P>T		No	ClinGen Ensembl
CA8345258 rs781406498	521	P>A		No	ClinGen ExAC TOPMed gnomAD
CA397789382 rs1293945346	523	I>T		No	TOPMed ClinGen
rs61741886 CA8345259	524	R>*		No	ESP ExAC TOPMed gnomAD ClinGen
CA8345260 rs547740599	524	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA397789411 rs1303850659	526	A>T		No	ClinGen gnomAD
TCGA novel	528	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763555577 CA397789451	528	A>G		No	ExAC gnomAD ClinGen
CA8345262 rs763555577	528	A>V		No	ClinGen ExAC gnomAD
CA287429941 rs373447677	529	V>E		No	ClinGen ESP
CA8345263 rs771593692	529	V>L		No	ClinGen ExAC TOPMed gnomAD
rs771593692 CA397789455	529	V>M		No	ClinGen ExAC TOPMed gnomAD
rs759128423 CA8345265	532	G>R		No	ClinGen ExAC gnomAD
TCGA novel	535	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8345266 rs767208961	535	G>S		No	ExAC gnomAD ClinGen
TCGA novel	536	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752468374 CA8345267	536	L>V		No	ClinGen ExAC gnomAD
rs1261872762 CA397789594	537	P>L		No	gnomAD ClinGen
rs760377208 CA8345268	537	P>S		No	ClinGen ExAC gnomAD
CA397789623 rs1443251154	538	P>L		No	TOPMed ClinGen
rs1044207939 CA287429953	538	P>S		No	ClinGen Ensembl
CA8345269 rs36046975 VAR_041866	539	R>C		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1419213299 CA397789642	539	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
CA397789625 rs36046975	539	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377691913 CA8345270	540	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA397789678 rs1429554628	541	P>H		No	ClinGen TOPMed gnomAD
CA397789676 rs1429554628	541	P>L		No	TOPMed gnomAD ClinGen
rs1426219279 CA397789673	541	P>S		No	TOPMed gnomAD ClinGen
rs1164530302 CA397789718	544	S>P		No	gnomAD ClinGen
CA8345271 rs56093628 VAR_041867	546	S>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs778844757 CA8345272	547	P>L		No	ExAC gnomAD ClinGen
TCGA novel rs1470337013 CA397789833	550	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed NCI-TCGA ClinGen
CA8345273 rs751582543	552	P>L		No	ExAC gnomAD ClinGen
CA287429983 rs916445702	552	P>S		No	TOPMed gnomAD ClinGen
CA287429998 rs891787329	553	S>F		No	ClinGen Ensembl
rs202236967 CA8345275	555	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1300353449 CA397789928	556	R>K		No	ClinGen gnomAD
CA397789974 rs1332723061	558	P>R		No	ClinGen TOPMed
rs1309300881 CA774900502	559	W>*		No	ClinGen TOPMed
rs748449906 CA8345276	559	W>*		No	ExAC gnomAD ClinGen
rs1597686602 CA397789977	559	W>R		No	ClinGen Ensembl
rs748449906 CA397789979	559	W>S		No	ClinGen ExAC gnomAD
rs1395178821 CA397789985	560	P>T		No	ClinGen TOPMed gnomAD
rs1065021 CA287430025	561	K>E		No	ClinGen TOPMed
rs1065021 CA287430022	561	K>Q		No	TOPMed ClinGen
rs770022580 CA8345277	562	R>K		No	ExAC gnomAD ClinGen
rs940426429 CA397790025 CA287430036	563	K>N		No	TOPMed ClinGen
CA397790030 rs1246673049	564	P>A		No	ClinGen gnomAD
CA397790031 rs1246673049	564	P>S		No	gnomAD ClinGen
CA397790040 rs1286558628	565	P>T		No	TOPMed gnomAD ClinGen
CA397790086 rs966181148	568	H>Q		No	TOPMed ClinGen
CA8345282 rs570243455	570	M>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA397790103 rs1347589105	570	M>K		No	TOPMed ClinGen
rs80015268 CA8345283 RCV000965364	571	G>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs771503560 CA8345284	572	M>T		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	573	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1263377396 CA397790149	574	G>V		No	ClinGen gnomAD
TCGA novel	575	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8345286 rs775000593	576	R>C		No	ExAC TOPMed gnomAD ClinGen
CA397790163 rs775000593	576	R>G		No	ClinGen ExAC TOPMed gnomAD
rs759109926 CA8345288	576	R>H		No	ClinGen ExAC TOPMed gnomAD
rs759109926 CA8345287	576	R>P		No	ClinGen ExAC TOPMed gnomAD
rs763689818 CA8345291	579	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs776439781 CA8345292	582	S>A		No	ClinGen ExAC gnomAD
rs1282407526 CA397790229	582	S>C		No	ClinGen TOPMed
rs1345956489 CA397790258	585	L>F		No	TOPMed gnomAD ClinGen
CA287430113 rs890025400	585	L>P		No	TOPMed ClinGen
rs1345956489 CA397790256	585	L>V		No	TOPMed gnomAD ClinGen
rs750427809 CA397790284	588	D>H		No	ClinGen ExAC TOPMed gnomAD
rs750427809 CA8345295	588	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750427809 CA287430140	588	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA8345296 rs755027501	589	P>S		No	ExAC gnomAD ClinGen
CA8345297 rs767622996	594	K>N		No	ClinGen ExAC gnomAD
rs1567649046 CA397790423	595	I>F		No	Ensembl ClinGen
CA397790464 rs1453874795	596	M>T		No	ClinGen TOPMed
rs6503018 CA397790608	598	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs6503018 VAR_041868 CA8345307	598	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs1411928127 CA397790636	599	E>G		No	ClinGen Ensembl
rs1174289223 CA397790648	600	L>Q		No	gnomAD ClinGen
CA8345308 rs141588799	601	S>N		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA8345310 rs768297347	603	H>P		No	ClinGen ExAC TOPMed gnomAD
CA8345311 rs776155237	603	H>Q		No	ClinGen ExAC gnomAD
rs768297347 CA287430227	603	H>R		No	ClinGen ExAC TOPMed gnomAD
CA397790772 rs1597687247	606	T>P		No	Ensembl ClinGen
CA397790802 rs1597687271	607	H>P		No	ClinGen Ensembl
CA397790798 rs1366351589	607	H>Y		No	ClinGen gnomAD
rs200725663 CA8345312	611	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397790926 rs765064235	614	L>P		No	ClinGen ExAC gnomAD
CA8345313 rs765064235	614	L>R		No	ExAC gnomAD ClinGen
rs1456797382 CA397790958	617	T>S		No	ClinGen gnomAD
rs1233508908 CA397790991	619	G>E		No	ClinGen gnomAD
CA287430254 rs1054295376	620	D>H		No	ClinGen Ensembl
rs773100710 CA8345316	621	V>M		No	ClinGen ExAC gnomAD
CA287430265 rs1142392	622	V>A		No	Ensembl ClinGen
rs1427462413 CA397791099	625	I>L		No	ClinGen gnomAD
rs61745660 CA287430267	626	R>Q		No	ClinGen gnomAD
CA8345317 rs372290061	626	R>W		No	ESP ExAC TOPMed gnomAD ClinGen
CA8345318 rs766249430	629	K>R		No	ExAC gnomAD ClinGen
CA397791292 rs1379147214	631	D>G		No	TOPMed gnomAD ClinGen
rs1006435866 CA287430368	632	Q>K		No	Ensembl ClinGen
rs1167125640 CA397791380	634	F>S		No	ClinGen TOPMed
CA287430391 rs1142393	635	H>L		No	Ensembl ClinGen
CA397791417 rs1142393	635	H>P		No	ClinGen Ensembl
rs200466700 CA8345326	635	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373739740 CA287430404	636	L>P		No	ESP TOPMed gnomAD ClinGen
rs1597687679 CA397791442	636	L>V		No	Ensembl ClinGen
rs201920258 CA8345327	637	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746461731 CA8345328	637	S>I		No	ClinGen ExAC gnomAD
CA397791498 rs1251636373	638	S>N		No	TOPMed ClinGen
CA287430451 rs577077870	639	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA8345329 rs201069861	639	R>W		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA8345330 rs375240414	646	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA8345332 rs373049680	646	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA8345331 rs375240414	646	R>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs971477516 CA287430471	647	I>V		No	Ensembl ClinGen
rs772942999 CA8345333	648	L>P		No	ExAC gnomAD ClinGen
CA397791832 rs1261227262	649	E>K		No	gnomAD ClinGen
rs762750134 CA287430482	651	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1465389784 CA397791887	651	Y>N		No	gnomAD ClinGen
rs1193582127 CA397791944	652	Q>*		No	gnomAD ClinGen
CA397791993 rs1236721516	653	W>*		No	gnomAD ClinGen
CA397792032 rs1471754595	654	D>H		No	ClinGen gnomAD
CA397792030 rs1471754595	654	D>N		No	gnomAD ClinGen
CA397792082 rs1156321919	656	S>L		No	ClinGen TOPMed gnomAD
rs1418486872 CA397792067	656	S>T		No	gnomAD ClinGen
rs1362013960 CA397792106	657	A>T		No	ClinGen gnomAD
CA397792167 rs1319360588	659	S>N		No	ClinGen gnomAD
rs770830814 CA8345335	660	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8345336 rs559780862	660	R>H		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA397792219 rs1317865000	661	Y>D		No	ClinGen gnomAD
rs1205996374 CA397792324	665	R>G		No	ClinGen gnomAD
rs1277638426 CA397792331	665	R>K		No	TOPMed gnomAD ClinGen
CA287430513 rs1053796751	666	P>L		No	TOPMed gnomAD ClinGen
CA8345338 rs764132544	666	P>S		No	ExAC TOPMed gnomAD ClinGen

No associated diseases with Q13470

6 regional properties for Q13470

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	116 - 377	IPR000719
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	119 - 374	IPR001245
domain	SH3 domain	380 - 445	IPR001452
active_site	Tyrosine-protein kinase, active site	241 - 253	IPR008266
binding_site	Protein kinase, ATP binding site	122 - 148	IPR017441
domain	Tyrosine-protein kinase, catalytic domain	116 - 377	IPR020635

Functions

		Description
EC Number	2.7.10.2	Protein-tyrosine kinases
Subcellular Localization	Cytoplasm Membrane ; Peripheral membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
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 tyrosine kinase activity	Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
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.

5 GO annotations of biological process

Name	Definition
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.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
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.
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.

32 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q17R13	TNK2	Activated CDC42 kinase 1	Bos taurus (Bovine)	SS
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
Q14289	PTK2B	Protein-tyrosine kinase 2-beta	Homo sapiens (Human)	PR
Q05397	PTK2	Focal adhesion kinase 1	Homo sapiens (Human)	EV
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
O54967	Tnk2	Activated CDC42 kinase 1	Mus musculus (Mouse)	SS
Q99ML2	Tnk1	Non-receptor tyrosine-protein kinase TNK1	Mus musculus (Mouse)	PR
P34152	Ptk2	Focal adhesion kinase 1	Mus musculus (Mouse)	SS
Q5U2X5	Tnk2	Activated CDC42 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
MLPEAGSLWL	LKLLRDIQLA	QFYWPILEEL	NVTRPEHFDF	VKPEDLDGIG	MGRPAQRRLS
70	80	90	100	110	120
EALKRLRSGP	KSKNWVYKIL	GGFAPEHKEP	TLPSDSPRHL	PEPEGGLKCL	IPEGAVCRGE
130	140	150	160	170	180
LLGSGCFGVV	HRGLWTLPSG	KSVPVAVKSL	RVGPEGPMGT	ELGDFLREVS	VMMNLEHPHV
190	200	210	220	230	240
LRLHGLVLGQ	PLQMVMELAP	LGSLHARLTA	PAPTPPLLVA	LLCLFLRQLA	GAMAYLGARG
250	260	270	280	290	300
LVHRDLATRN	LLLASPRTIK	VADFGLVRPL	GGARGRYVMG	GPRPIPYAWC	APESLRHGAF
310	320	330	340	350	360
SSASDVWMFG	VTLWEMFSGG	EEPWAGVPPY	LILQRLEDRA	RLPRPPLCSR	ALYSLALRCW
370	380	390	400	410	420
APHPADRPSF	SHLEGLLQEA	GPSEACCVRD	VTEPGALRME	TGDPITVIEG	SSSFHSPDST
430	440	450	460	470	480
IWKGQNGRTF	KVGSFPASAV	TLADAGGLPA	TRPVHRGTPA	RGDQHPGSID	GDRKKANLWD
490	500	510	520	530	540
APPARGQRRN	MPLERMKGIS	RSLESVLSLG	PRPTGGGSSP	PEIRQARAVP	QGPPGLPPRP
550	560	570	580	590	600
PLSSSSPQPS	QPSRERLPWP	KRKPPHNHPM	GMPGARKAAA	LSGGLLSDPE	LQRKIMEVEL
610	620	630	640	650	660
SVHGVTHQEC	QTALGATGGD	VVSAIRNLKV	DQLFHLSSRS	RADCWRILEH	YQWDLSAASR

YVLARP