AiPD: Autoinhibited Protein Database

P42684

Gene name	ABL2 (ABLL, ARG)
Protein name	Tyrosine-protein kinase ABL2
Names	EC 2.7.10.2 , Abelson murine leukemia viral oncogene homolog 2 , Abelson tyrosine-protein kinase 2 , Abelson-related gene protein , Tyrosine-protein kinase ARG
Species	Homo sapiens (Human)
KEGG Pathway	hsa:27
EC number	2.7.10.2: Protein-tyrosine kinases
Protein Class

Descriptions

Abelson tyrosine kinase (Abl1) is a non-receptor tyrosine kinase that involved in many processes linked to cell growth and survival such as cytoskeleton remodeling, cell motility and adhesion, receptor endocytosis, autophagy, DNA damage response and apoptosis. Abl protein contains a CAP-SH3-SH2-TK (Src homology 3-Src homology 2-tyrosine kinase) domain cassette, which confers autoregulated kinase activity. Structural and biochemical studies revealed the multiple autoinhibitory mechanisms. The tyrosine kinase activity of Abl1 is increased by disrupting these autoinhibitory interactions, such as the N-terminal CAP domain mutation, the SH3 domain mutation, the SH2 domain mutations, and the SH2-TK linker-region double mutation. Also, Abl1 has an activation loop in which Tyr393 is the major site of phosphorylation.

Autoinhibitory domains (AIDs)

48-106 (CAP) SS

Target domain	288-539 (Protein kinase domain)
Relief mechanism	Partner binding, PTM
Assay

AID

48-106 (CAP)

Target domain

288-539 (Protein kinase domain)

Relief mechanism

Partner binding (GNF-2 binding to myristoyl group in CAP region), PTM (Phosphorylation of Tyr89)

Assay

107-167 (SH3 domain) SS

Target domain	288-539 (Protein kinase domain)
Relief mechanism	Partner binding, PTM
Assay

AID

107-167 (SH3 domain)

Target domain

288-539 (Protein kinase domain)

Relief mechanism

Partner binding (RIN1 binding to SH3 and SH2 domains), PTM (Phosphorylation of Tyr89)

Assay

173-263 (SH2 domain) SS

Target domain	288-539 (Protein kinase domain)
Relief mechanism	Partner binding, PTM
Assay

AID

173-263 (SH2 domain)

Target domain

288-539 (Protein kinase domain)

Relief mechanism

Partner binding (RIN1 binding to SH3 and SH2 domains), PTM (Phosphorylation of Tyr89)

Assay

264-287 (SH2-Tyrosine kinase linker) SS

Target domain	288-539 (Protein kinase domain)
Relief mechanism	Partner binding, PTM
Assay

AID

264-287 (SH2-Tyrosine kinase linker)

Target domain

288-539 (Protein kinase domain)

Relief mechanism

Partner binding (RIN1 binding to SH3 and SH2 domains), PTM (Phosphorylation of Tyr89)

Assay

1064-1182 (F-actin binding domain) SS

Target domain	288-539 (Protein kinase domain)
Relief mechanism	Partner binding
Assay

AID

1064-1182 (F-actin binding domain)

Target domain

288-539 (Protein kinase domain)

Relief mechanism

Partner binding (F-actin binding to F-actin binding domain)

Assay

Accessory elements

426-450 (Activation loop from InterPro)

Target domain	288-539 (Protein kinase domain)
Relief mechanism
Assay

References

Schindler T et al. (2000) "Structural mechanism for STI-571 inhibition of abelson tyrosine kinase", Science (New York, N.Y.), 289, 1938-42

Colicelli J (2010) "ABL tyrosine kinases: evolution of function, regulation, and specificity", Science signaling, 3, re6

Hantschel O et al. (2003) "A myristoyl/phosphotyrosine switch regulates c-Abl", Cell, 112, 845-57

Walkenhorst J et al. (1996) "Analysis of human c-Abl tyrosine kinase activity and regulation in S. pombe", Oncogene, 12, 1513-20

Pluk H et al. (2002) "Autoinhibition of c-Abl", Cell, 108, 247-59

Woodring PJ et al. (2001) "Inhibition of c-Abl tyrosine kinase activity by filamentous actin", The Journal of biological chemistry, 276, 27104-10

Nagar B et al. (2003) "Structural basis for the autoinhibition of c-Abl tyrosine kinase", Cell, 112, 859-71

Autoinhibited structure

Activated structure

10 structures for P42684

Entry ID	Method	Resolution	Chain	Position	Source
2ECD	NMR	-	A	163-268	PDB
2KK1	NMR	-	A	1058-1182	PDB
2XYN	X-ray	281 A	A/B/C	279-546	PDB
3GVU	X-ray	205 A	A	279-546	PDB
3HMI	X-ray	165 A	A	279-546	PDB
3ULR	X-ray	165 A	C	563-579	PDB
4EIH	X-ray	120 A	A	165-273	PDB
5NP3	X-ray	200 A	A/B/C/D	110-166	PDB
5NP5	X-ray	140 A	A/B	110-166	PDB
AF-P42684-F1	Predicted				AlphaFoldDB

1517 variants for P42684

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000623707 rs1553236156 CA343842778	15	Q>*	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs766804361 RCV000624833 CA1265054	249	S>F	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs771357822	2	G>E		No	ExAC gnomAD
rs2124889386	2	G>W		No	Ensembl
rs2124889366	3	Q>E		No	Ensembl
TCGA novel	3	Q>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1186686900	4	Q>*		No	gnomAD
rs1186686900	4	Q>E		No	gnomAD
rs2124889342	4	Q>R		No	Ensembl
rs2124889324	5	V>E		No	Ensembl
rs2124889324	5	V>G		No	Ensembl
rs747485312	6	G>A		No	ExAC TOPMed gnomAD
rs747485312	6	G>D		No	ExAC TOPMed gnomAD
rs2124889300	7	R>L		No	Ensembl
rs1663422494	7	R>S		No	Ensembl
rs2124889284	8	V>I		No	Ensembl
rs1239814206	9	G>E		No	gnomAD
rs1239814206	9	G>V		No	gnomAD
rs1214994734	11	A>G		No	gnomAD
rs1214994734	11	A>V		No	gnomAD
rs867643650	12	P>L		No	Ensembl
rs866229451	12	P>S		No	TOPMed
rs866229451	12	P>T		No	TOPMed
rs758479290	13	G>R		No	ExAC TOPMed gnomAD
rs758479290	13	G>W		No	ExAC TOPMed gnomAD
rs752952462	14	L>F		No	ExAC TOPMed gnomAD
rs1663420846	14	L>H		No	TOPMed gnomAD
rs752952462	14	L>I		No	ExAC TOPMed gnomAD
rs1663420846	14	L>P		No	TOPMed gnomAD
rs2124889178	15	Q>H		No	Ensembl
rs779137464	15	Q>L		No	ExAC gnomAD
rs1428804229	16	Q>*		No	TOPMed gnomAD
rs1428804229	16	Q>E		No	TOPMed gnomAD
rs1663420207	16	Q>P		No	TOPMed
rs1663420207	16	Q>R		No	TOPMed
rs1296028787	17	P>L		No	gnomAD
rs1663420071	17	P>S		No	gnomAD
rs753642345	19	P>L		No	ExAC gnomAD
rs755143940	19	P>S		No	ExAC gnomAD
rs755143940	19	P>T		No	ExAC gnomAD
rs1663419318	20	R>G		No	Ensembl
rs766129565	21	G>E		No	ExAC gnomAD
rs2124889082	21	G>R		No	Ensembl
TCGA novel	21	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2124889050	22	I>L		No	Ensembl
rs578157802	22	I>M		No	1000Genomes ExAC gnomAD
rs2124889038	22	I>S		No	Ensembl
rs2124889038	22	I>T		No	Ensembl
rs750363086	23	R>G		No	ExAC gnomAD
rs2124889006	23	R>P		No	Ensembl
rs750363086	23	R>W		No	ExAC gnomAD
rs2124888987	24	G>A		No	Ensembl
rs766986832	24	G>C		No	ExAC gnomAD
rs1408623221	25	S>N		No	gnomAD
rs1663417819	26	S>G		No	TOPMed
rs1195188145	26	S>N		No	TOPMed gnomAD
rs768448217	26	S>R		No	ExAC gnomAD
rs2124888937	27	A>V		No	Ensembl
rs777142535	28	A>P		No	ExAC gnomAD
rs996366201	28	A>V		No	TOPMed gnomAD
rs1251620547	29	R>S		No	gnomAD
rs558319702	30	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs2124888876	31	S>P		No	Ensembl
rs2124888856	32	G>A		No	Ensembl
rs61821692	32	G>S		No	Ensembl
rs747516775	33	R>G		No	ExAC TOPMed gnomAD
rs2124888825	33	R>H		No	Ensembl
rs2124888825	33	R>P		No	Ensembl
rs747516775	33	R>S		No	ExAC TOPMed gnomAD
rs1282734179	34	R>G		No	gnomAD
rs1282734179	34	R>W		No	gnomAD
rs2124888800	35	R>Q		No	Ensembl
rs2124888805	35	R>W		No	Ensembl
rs2124888787	36	D>A		No	Ensembl
rs2124888796	36	D>N		No	Ensembl
rs1235370247	37	P>A		No	TOPMed gnomAD
rs1333357319	37	P>L		No	TOPMed
rs1333357319	37	P>R		No	TOPMed
rs1235370247	37	P>S		No	TOPMed gnomAD
rs778308312	38	A>S		No	ExAC TOPMed gnomAD
rs1393597219	38	A>V		No	gnomAD
rs772415670	39	G>R		No	ExAC TOPMed gnomAD
rs772415670	39	G>W		No	ExAC TOPMed gnomAD
rs1344414390	40	R>C		No	TOPMed
rs1344414390	40	R>G		No	TOPMed
rs748250030	40	R>H		No	ExAC TOPMed gnomAD
rs748250030	40	R>L		No	ExAC TOPMed gnomAD
rs1344414390	40	R>S		No	TOPMed
rs1292951930	41	T>A		No	TOPMed gnomAD
rs1434957069	42	T>I		No	TOPMed gnomAD
rs868544684	43	E>D		No	TOPMed
rs1050321732	45	G>A		No	TOPMed gnomAD
rs754053173	45	G>R		No	ExAC TOPMed gnomAD
rs754053173	45	G>S		No	ExAC TOPMed gnomAD
rs2124888629	46	F>L		No	Ensembl
rs2124888636	46	F>S		No	Ensembl
rs779772886	47	N>D		No	ExAC gnomAD
rs544043509	47	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs923070533	48	I>M		No	TOPMed gnomAD
rs1396896893	48	I>V		No	gnomAD
rs1663409786	49	F>C		No	Ensembl
rs1259370913	52	H>Q		No	gnomAD
rs1663409450	52	H>R		No	Ensembl
rs1211783768	53	D>H		No	gnomAD
rs1656529052	54	H>Y		No	TOPMed gnomAD
rs2102673376	55	F>C		No	Ensembl
rs962629923	59	V>L		No	Ensembl
rs763588356	60	E>G		No	ExAC
rs753133401	61	D>Y		No	ExAC gnomAD
rs765410093	63	F>C		No	ExAC TOPMed gnomAD
rs759563551	64	E>K		No	ExAC gnomAD
rs1470099594	65	G>R		No	TOPMed gnomAD
rs1656526343	65	G>V		No	Ensembl
rs776800830	67	K>N		No	ExAC gnomAD
rs1656525141	69	G>E		No	TOPMed
rs771287245	69	G>R		No	ExAC gnomAD
rs140292380	70	G>S		No	ESP ExAC TOPMed gnomAD
rs773207546	71	S>G		No	ExAC TOPMed gnomAD
rs1656524124	71	S>N		No	TOPMed
rs1656524124	71	S>T		No	TOPMed
rs1368682019	73	P>A		No	TOPMed gnomAD
rs1368682019	73	P>T		No	TOPMed gnomAD
rs767384933	77	H>Q		No	ExAC gnomAD
rs773544977	77	H>R		No	ExAC TOPMed gnomAD
rs371509729	78	R>C		No	ESP ExAC TOPMed gnomAD
VAR_055411 rs55655202	78	R>H		No	UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs140935116	80	Y>C		No	ESP ExAC TOPMed gnomAD
rs528004734	82	C>F		No	1000Genomes ExAC TOPMed gnomAD
rs1656320469	82	C>R		No	TOPMed
rs745571219	83	D>G		No	ExAC TOPMed gnomAD
rs535204533	83	D>H		No	TOPMed gnomAD
rs780680423	84	V>I		No	ExAC
rs756881677	85	E>D		No	ExAC TOPMed gnomAD
rs2102665387	86	P>R		No	Ensembl
rs1421166797	86	P>S		No	gnomAD
TCGA novel	87	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs748473268	87	Q>H		No	ExAC TOPMed gnomAD
rs1308100649	87	Q>K		No	gnomAD
rs1229741523	87	Q>R		No	TOPMed gnomAD
rs1656314171	88	A>S		No	Ensembl
COSM1583756 COSM1583755 COSM4869510 rs1656314171 COSM900225	88	A>T	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs755606411	90	N>H		No	ExAC TOPMed gnomAD
COSM1336677 COSM1336676 COSM1336678 COSM4948142	91	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2102665264	91	E>Q		No	Ensembl
rs1201299762	92	A>T		No	TOPMed gnomAD
rs753558280	93	I>L		No	ExAC
rs753558280	93	I>V		No	ExAC
rs766612998	94	R>W		No	ExAC gnomAD
rs1656311917	96	S>I		No	TOPMed
rs756229936	97	S>A		No	ExAC gnomAD
rs201376490	98	K>E		No	ESP ExAC TOPMed gnomAD
VAR_055412	99	E>Q	somatic mutation in a breast cancer sample [UniProt]	No	UniProt
rs1204580093	102	L>F		No	gnomAD
rs187540054	103	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1656310240	104	A>T		No	Ensembl
rs763949080	106	E>D		No	ExAC gnomAD
rs370197732	107	S>N		No	ESP ExAC TOPMed gnomAD
rs1340062027	110	N>D		No	gnomAD
rs200298102	112	F>L		No	ExAC TOPMed gnomAD
rs201168871	113	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1028542505	114	A>G		No	TOPMed gnomAD
rs745401841	114	A>T		No	ExAC gnomAD
TCGA novel	116	Y>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	118	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs746665603	119	V>I		No	ExAC gnomAD
rs1656306203	120	A>T		No	TOPMed
rs1408728156	122	G>V		No	TOPMed gnomAD
rs749851427	125	T>K		No	ExAC gnomAD
rs2102664769	126	L>F		No	Ensembl
rs756641046	127	S>G		No	ExAC gnomAD
rs147306941	127	S>I		No	ESP ExAC TOPMed gnomAD
rs147306941	127	S>N		No	ESP ExAC TOPMed gnomAD
rs756641046	127	S>R		No	ExAC gnomAD
rs1656301408	128	I>T		No	Ensembl
rs1363271040	128	I>V		No	TOPMed
rs781268035	131	G>C		No	ExAC TOPMed gnomAD
rs781268035	131	G>S		No	ExAC TOPMed gnomAD
rs1454942153	134	L>I		No	gnomAD
rs1158425353	135	R>*		No	gnomAD
rs1455432470	135	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
TCGA novel	136	V>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs760263640	138	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs908816677	139	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1454188913	140	N>H		No	TOPMed
rs1166030819	142	N>S		No	gnomAD
COSM3479207 COSM3479206 COSM3479204 COSM3479205	145	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1572650166	145	W>G		No	Ensembl
rs1572650152	146	S>R		No	Ensembl
rs1161326666	148	V>I		No	TOPMed gnomAD
rs375837168	149	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs375837168	149	R>G		No	ESP ExAC TOPMed gnomAD
rs148596386	149	R>H		No	ESP ExAC TOPMed gnomAD
rs148596386	149	R>L		No	ESP ExAC TOPMed gnomAD
rs375837168	149	R>S		No	ESP ExAC TOPMed gnomAD
rs1572650051	150	S>F		No	Ensembl
TCGA novel	151	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs771306580	151	K>R		No	ExAC TOPMed gnomAD
rs771306580	151	K>T		No	ExAC TOPMed gnomAD
rs1245007526	154	Q>K		No	gnomAD
rs570730790	154	Q>R		No	1000Genomes ExAC TOPMed gnomAD
rs61821670	155	G>A		No	gnomAD
rs61821670	155	G>V		No	gnomAD
rs748354391	159	S>G		No	ExAC TOPMed gnomAD
rs1319741785	160	N>K		No	gnomAD
rs778726166	160	N>S		No	ExAC gnomAD
rs1230729788	161	Y>C		No	Ensembl
COSM6123016 COSM6123015 COSM6123014 COSM6123017	163	T>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs979331955	165	V>M		No	TOPMed gnomAD
TCGA novel	166	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1336671 COSM4786290 COSM1336672 COSM1336670	167	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1655736242	169	E>G		No	TOPMed
TCGA novel	171	H>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs753534120	172	S>P		No	ExAC gnomAD
rs766361129	177	P>L		No	ExAC gnomAD
rs755948346	180	R>C		No	ExAC TOPMed gnomAD
rs755948346	180	R>G		No	ExAC TOPMed gnomAD
TCGA novel	181	S>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs149352120	182	A>T		No	ESP ExAC TOPMed gnomAD
COSM900223 COSM1583759 COSM1583760 COSM4867609	182	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1655733023	183	A>P		No	TOPMed
rs1655733023	183	A>S		No	TOPMed
COSM4025580 COSM4025577 COSM4025578 COSM4025579	184	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	188	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1263303087	189	S>G		No	gnomAD
rs1655730999	192	N>D		No	TOPMed gnomAD
rs764427250	192	N>S		No	ExAC TOPMed gnomAD
rs1655729476	193	G>V		No	TOPMed
rs771470392	198	R>*		No	ExAC gnomAD
rs1373051858	198	R>Q		No	TOPMed gnomAD
COSM3418413 COSM3418410 rs1184140649 COSM3418411 COSM3418412	202	S>N	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed
rs1409618809	204	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1557930545	204	P>T		No	Ensembl
rs1456701194	205	G>R		No	TOPMed gnomAD
rs1655726869	207	L>R		No	gnomAD
rs1557930489 COSM1747974 COSM1747973	210	S>L	urinary_tract [Cosmic]	No	cosmic curated Ensembl
rs748407717	214	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs1655725150	216	R>H		No	gnomAD
rs112007604	217	V>A		No	Ensembl
rs755105872	218	Y>C		No	ExAC gnomAD
rs1374444160	220	Y>F		No	TOPMed gnomAD
rs1655722627	223	N>S		No	gnomAD
rs1412033488	224	T>A		No	TOPMed gnomAD
rs1336642570	224	T>N		No	gnomAD
COSM1583761 COSM900222 COSM1583762 COSM4873026	224	T>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1286922806	225	T>I		No	TOPMed gnomAD
rs1655721376	226	A>E		No	Ensembl
COSM69497	226	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs541485724	227	D>A		No	gnomAD
rs1450175965	227	D>E		No	gnomAD
COSM424694 COSM1473068 COSM1473067 COSM4814889	227	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1253109290	228	G>S		No	gnomAD
rs1206794789	229	K>E		No	gnomAD
rs749467705	230	V>A		No	ExAC TOPMed gnomAD
rs1228779200	231	Y>C		No	gnomAD
rs1655231164	231	Y>N		No	gnomAD
rs779958436	234	A>V		No	ExAC gnomAD
rs1341100747	236	S>N		No	TOPMed gnomAD
rs781311580	237	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs371689982	237	R>H		No	ESP ExAC TOPMed gnomAD
rs371689982	237	R>L		No	ESP ExAC TOPMed gnomAD
rs781311580	237	R>S		No	ExAC TOPMed gnomAD
rs1387773234	239	S>C		No	gnomAD
rs944020199	239	S>N		No	TOPMed
rs1311358625	239	S>R		No	TOPMed
rs944020199	239	S>T		No	TOPMed
rs751131620	240	T>A		No	ExAC TOPMed gnomAD
rs758123279	242	A>G		No	ExAC TOPMed gnomAD
rs758123279	242	A>V		No	ExAC TOPMed gnomAD
rs1265535273	243	E>A		No	TOPMed gnomAD
rs1357906238	243	E>D		No	TOPMed
rs1655226004	243	E>K		No	TOPMed gnomAD
COSM1473064 rs752266744 COSM4814643 COSM1473065 COSM1473066	244	L>F	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
COSM1491870 COSM1491869 COSM1491871	245	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1655224613	249	S>P		No	Ensembl
rs1655223715	250	T>A		No	TOPMed
rs761058217	253	D>G		No	ExAC gnomAD
rs1572638304	256	V>G		No	Ensembl
rs1475990141	257	T>R		No	TOPMed gnomAD
rs888202853	258	T>A		No	Ensembl
rs1572638255	261	Y>F		No	Ensembl
rs1655221073	261	Y>H		No	Ensembl
rs1572638255	261	Y>S		No	Ensembl
rs1655220397	262	P>S		No	Ensembl
rs1054761720	263	A>T		No	TOPMed gnomAD
rs1655219524	263	A>V		No	Ensembl
rs768024576	264	P>L		No	ExAC gnomAD
rs762240305	265	K>R		No	ExAC TOPMed gnomAD
rs1655217778	270	T>A		No	TOPMed
rs768606350	271	V>I		No	ExAC gnomAD
rs1655216922	272	Y>C		No	Ensembl
rs1655216681	273	G>D		No	gnomAD
rs1655216681	273	G>V		No	gnomAD
rs1188278977	274	V>M		No	TOPMed gnomAD
TCGA novel	275	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	277	I>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1435047034	279	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1435047034	279	D>Y		No	TOPMed gnomAD
TCGA novel	282	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2102628814	283	M>I		No	Ensembl
COSM4871990 COSM900221 COSM1583764 COSM1583763	284	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1151929 rs1401377188	285	R>*	endometrium [Cosmic]	No	cosmic curated TOPMed gnomAD
rs1655213695	285	R>Q		No	TOPMed
rs2102628742	287	D>E		No	Ensembl
rs1386844867	287	D>V		No	TOPMed gnomAD
COSM4873327 COSM900219 COSM1583766 COSM1583765	287	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	288	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1215769786	288	I>T		No	gnomAD
TCGA novel	290	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs775546181	290	M>T		No	ExAC TOPMed gnomAD
rs370084382	291	K>N		No	ExAC TOPMed gnomAD
rs533638410	291	K>Q		No	1000Genomes ExAC gnomAD
rs972969778	293	K>E		No	TOPMed
rs551340084	293	K>R		No	1000Genomes ExAC gnomAD
rs1313396341	295	G>E		No	TOPMed gnomAD
rs2102628655	295	G>W		No	Ensembl
rs1655208482	296	G>D		No	Ensembl
rs1655207877	297	G>S		No	TOPMed
COSM677875 rs777388022 COSM4863106 COSM1146067 COSM1146068	299	Y>C	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1368682744	299	Y>N		No	Ensembl
COSM463493 COSM4858010 COSM4858009 COSM1134778	300	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2102628560	300	G>V		No	Ensembl
TCGA novel	301	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1322166102	304	V>I		No	TOPMed gnomAD
rs1322166102	304	V>L		No	TOPMed gnomAD
rs2102628517	305	G>V		No	Ensembl
rs1655205275	306	V>G		No	TOPMed
rs200847097	306	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs2102628471	308	K>N		No	Ensembl
COSM1336661 COSM4948433 COSM1336662 COSM1336663	310	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2102628456	311	S>I		No	Ensembl
rs2102628456	311	S>N		No	Ensembl
rs1655204682	312	L>V		No	TOPMed
rs750790352	313	T>A		No	ExAC TOPMed gnomAD
rs767863031	313	T>I		No	ExAC gnomAD
rs767863031	313	T>R		No	ExAC gnomAD
rs2102628393	314	V>I		No	Ensembl
rs1295873336	315	A>P		No	gnomAD
rs1295873336	315	A>T		No	gnomAD
rs2102628374	315	A>V		No	Ensembl
rs1349682372	316	V>L		No	gnomAD
rs1349682372	316	V>M		No	gnomAD
rs2102628344	318	T>R		No	Ensembl
rs2102628317	319	L>F		No	Ensembl
TCGA novel	322	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM4783131 rs2102623612 COSM1336659 COSM1336660 COSM1336658	323	T>I	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1286800118	327	E>D		No	TOPMed gnomAD
COSM4025571 COSM4025570 COSM4025572 COSM4025569	332	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2102623555	333	A>D		No	Ensembl
rs776958637	334	A>T		No	ExAC gnomAD
rs2102623528	334	A>V		No	Ensembl
rs1312104419	335	V>I		No	gnomAD
rs192943572	338	E>G		No	1000Genomes ExAC TOPMed gnomAD
rs1002049888	339	I>V		No	TOPMed
rs2102623427	340	K>M		No	1000Genomes
rs1655056140	340	K>Y		No	Ensembl
TCGA novel	341	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs771907317	342	P>R		No	ExAC TOPMed gnomAD
rs773000057	342	P>T		No	ExAC gnomAD
rs748110886	343	N>K		No	ExAC gnomAD
rs1304053471	343	N>S		No	gnomAD
COSM2095185 COSM4025568 COSM2095186 rs1213899879 COSM2095187	345	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl NCI-TCGA
rs1174262735	345	V>L		No	gnomAD
rs761705401	351	C>Y		No	ExAC gnomAD
rs1241392884	352	T>S		No	gnomAD
rs768542121	354	E>K		No	ExAC TOPMed gnomAD
TCGA novel	356	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs147552979	357	F>C		No	ESP ExAC TOPMed gnomAD
rs554331117	364	M>T		No	1000Genomes ExAC gnomAD
rs1654893534	364	M>V		No	TOPMed gnomAD
rs748480184	365	P>A		No	ExAC gnomAD
rs1230038520	365	P>L		No	TOPMed gnomAD
rs748480184	365	P>S		No	ExAC gnomAD
rs1368876824	366	Y>C		No	TOPMed
rs1654891762	366	Y>H		No	TOPMed
rs1654890937	367	G>R		No	TOPMed
rs1654890368	368	N>S		No	gnomAD
rs1238260957	369	L>*		No	Ensembl
rs1654889226	372	Y>C		No	TOPMed
rs1294297930	373	L>H		No	gnomAD
COSM4861200 COSM677876 rs780176171 COSM1146066 COSM1146065	374	R>*	lung Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM900217 COSM1151924 COSM4865644 COSM1151925	374	R>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs756347729	374	R>Q		No	ExAC gnomAD
COSM3479199 COSM3479196 COSM3479198 COSM3479197	375	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs767256810	377	N>S		No	ExAC TOPMed gnomAD
rs767256810	377	N>T		No	ExAC TOPMed gnomAD
rs1557920228	378	R>*		No	Ensembl
rs1053812052 COSM1499957 COSM1499956	378	R>Q	lung [Cosmic]	No	cosmic curated TOPMed gnomAD
rs886189682	379	E>A		No	TOPMed gnomAD
rs1268538214	380	E>G		No	gnomAD
rs1289197164	381	V>A		No	gnomAD
rs751308059	381	V>L		No	ExAC gnomAD
rs1407475812	385	V>M		No	gnomAD
rs764034559	387	L>F		No	ExAC
TCGA novel	388	Y>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs762813604	389	M>V		No	ExAC gnomAD
rs1269454213	391	T>S		No	gnomAD
rs1225190514	394	S>F		No	gnomAD
rs1051702194	396	A>G		No	Ensembl
rs759146490	401	E>K		No	ExAC gnomAD
COSM1583768 COSM1583767 COSM4876039 rs776373214 COSM900216	403	K>N	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1363935769	404	N>K		No	gnomAD
rs770437951	406	I>V		No	ExAC gnomAD
rs2102613666	409	D>H		No	Ensembl
rs2102613654	410	L>F		No	Ensembl
rs2102613638	411	A>V		No	Ensembl
rs1172567627	413	R>C		No	TOPMed gnomAD
rs1172567627	413	R>G		No	TOPMed gnomAD
rs2102613605	413	R>H		No	Ensembl
rs2102613576	415	C>Y		No	Ensembl
rs973265766	416	L>P		No	Ensembl
rs2102613544	417	V>L		No	Ensembl
TCGA novel	419	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2102613514	419	E>Q		No	Ensembl
rs1336661241	420	N>K		No	TOPMed gnomAD
rs1451093313	420	N>Y		No	TOPMed
rs2102613475	421	H>Y		No	Ensembl
rs2102613428	423	V>I		No	Ensembl
rs2102613384	425	V>E		No	Ensembl
COSM900215 COSM4871052 COSM1151922 COSM1151923	425	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs576460819	426	A>G		No	1000Genomes ExAC TOPMed gnomAD
rs2102613373	426	A>T		No	Ensembl
rs2102613343	427	D>E		No	Ensembl
rs2102613335	431	S>N		No	Ensembl
rs368323709	431	S>R		No	ESP ExAC
rs2102613315	432	R>I		No	Ensembl
rs2102613315	432	R>K		No	Ensembl
TCGA novel	433	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2102613290	434	M>L		No	Ensembl
rs1654761998	434	M>R		No	gnomAD
rs1293653159	436	G>A		No	gnomAD
rs376353768	436	G>R		No	ESP ExAC TOPMed gnomAD
rs1654761085	438	T>I		No	Ensembl
rs2102613234	439	Y>N		No	Ensembl
rs1179039538	440	T>I		No	TOPMed gnomAD
rs2102613177	441	A>G		No	Ensembl
rs1256700870	441	A>S		No	gnomAD
rs1256700870	441	A>T		No	gnomAD
rs2102613177	441	A>V		No	Ensembl
rs1654758858	442	H>R		No	gnomAD
rs2102613157	443	A>S		No	Ensembl
COSM1195526 rs2102613157 COSM3400040 COSM1195524 COSM1195525	443	A>T	lung Variant assessed as Somatic; MODERATE impact. central_nervous_system [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2102613146	443	A>V		No	Ensembl
rs1202963578	444	G>*		No	TOPMed gnomAD
rs1202963578	444	G>R		No	TOPMed gnomAD
rs368415815	445	A>D		No	ESP ExAC TOPMed gnomAD
rs372829123	445	A>T		No	ESP ExAC TOPMed gnomAD
rs866780586	448	P>A		No	TOPMed
rs2102613062	448	P>R		No	Ensembl
COSM4464616 COSM4464614 COSM4464617 COSM4464615 rs866780586	448	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed
rs1228831627	449	I>V		No	TOPMed gnomAD
rs2102613028 RCV001787291	450	K>missing		No	ClinVar dbSNP
rs2102613039	450	K>*		No	Ensembl
rs2102613015	450	K>M		No	Ensembl
rs2102612987	451	W>*		No	Ensembl
rs2102613001	451	W>R		No	Ensembl
rs2102612971	452	T>I		No	Ensembl
rs2102612971	452	T>R		No	Ensembl
rs2102612922	453	A>G		No	Ensembl
rs2102612941	453	A>P		No	Ensembl
rs2102612941	453	A>S		No	Ensembl
rs2102612941	453	A>T		No	Ensembl
rs2102612922	453	A>V		No	Ensembl
rs1242471352	454	P>A		No	Ensembl
rs2102612881 COSM3479195 COSM3479193 COSM3479192 COSM3479194	454	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1242471352	454	P>S		No	Ensembl
rs2102612851	455	E>*		No	Ensembl
rs1572628094	455	E>D		No	Ensembl
rs2102612851	455	E>K		No	Ensembl
COSM4813469 rs2102612851 COSM1473061 COSM1473062 COSM1473063	455	E>Q	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2102612841	455	E>V		No	Ensembl
rs770159745	456	S>G		No	ExAC TOPMed gnomAD
rs2102612809	456	S>I		No	Ensembl
rs1444751225	456	S>R		No	TOPMed gnomAD
rs2102612809	456	S>T		No	Ensembl
rs2102612787	457	L>F		No	Ensembl
rs2102612787	457	L>V		No	Ensembl
rs2102612772	458	A>G		No	Ensembl
rs745963861	459	Y>*		No	ExAC gnomAD
rs2102612737	459	Y>F		No	Ensembl
rs993795806	460	N>I		No	TOPMed gnomAD
rs993795806	460	N>S		No	TOPMed gnomAD
rs2102612718	460	N>Y		No	Ensembl
TCGA novel rs1654754215	461	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2102612670	461	T>I		No	Ensembl
rs1654754215	461	T>P		No	TOPMed gnomAD
rs2102612670	461	T>S		No	Ensembl
rs1654754215	461	T>S		No	TOPMed gnomAD
rs2102612640	462	F>L		No	Ensembl
rs2102612653	462	F>S		No	Ensembl
rs2102612614	463	S>*		No	Ensembl
rs2102612614	463	S>L		No	Ensembl
rs2102612630	463	S>T		No	Ensembl
rs2102612576	464	I>F		No	Ensembl
rs2102612576	464	I>V		No	Ensembl
rs2102612567	465	K>*		No	Ensembl
rs2102612546	465	K>I		No	Ensembl
rs2102612520	465	K>N		No	Ensembl
TCGA novel	465	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1427544352	466	S>C		No	TOPMed
rs1427544352	466	S>F		No	TOPMed
rs374895546	467	D>E		No	ESP ExAC TOPMed gnomAD
rs2102612475	467	D>G		No	Ensembl
rs2102612487	467	D>H		No	Ensembl
rs2102612487	467	D>N		No	Ensembl
rs2102612475	467	D>V		No	Ensembl
rs2102612487	467	D>Y		No	Ensembl
rs2102612419	468	V>D		No	Ensembl
rs144729350	468	V>F		No	ESP ExAC TOPMed gnomAD
COSM1181447 COSM1181448 rs144729350	468	V>I	large_intestine [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs144729350	468	V>L		No	ESP ExAC TOPMed gnomAD
rs1391527596	469	W>*		No	gnomAD
rs2102612338	469	W>*		No	Ensembl
COSM1194265 rs2102612338 COSM1194264	469	W>C	lung [Cosmic]	No	cosmic curated Ensembl
rs1391527596	469	W>L		No	gnomAD
rs2102612390	469	W>R		No	Ensembl
rs1391527596	469	W>S		No	gnomAD
rs2102612320	470	A>P		No	Ensembl
rs2102612320	470	A>S		No	Ensembl
rs2102612320	470	A>T		No	Ensembl
COSM1583770 COSM900214 COSM1583769 COSM4865143	471	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1268378229	473	V>I		No	gnomAD
COSM3966063 COSM3966065 COSM3966064 COSM3966066	477	E>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1654488513	478	I>T		No	TOPMed gnomAD
rs1484053793	479	A>T		No	gnomAD
rs1275468146	481	Y>C		No	gnomAD
rs1203978571	483	M>L		No	TOPMed gnomAD
rs1306239852	484	S>*		No	gnomAD
COSM39700 COSM3479185 COSM3479187 COSM3479186	487	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1220165040	488	G>D		No	gnomAD
TCGA novel	489	I>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1654482946	492	S>F		No	Ensembl
TCGA novel	493	Q>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs780170918	493	Q>R		No	ExAC gnomAD
rs756047263	495	Y>F		No	ExAC TOPMed gnomAD
rs756047263	495	Y>S		No	ExAC TOPMed gnomAD
COSM1146064 COSM1146063 COSM677877 COSM4858725	501	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1178157504	503	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1470063809	505	E>Q		No	gnomAD
COSM6123019 COSM6123020 COSM6123018 COSM6123021	506	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1654476115	509	G>V		No	TOPMed
rs1055810841	510	C>Y		No	TOPMed
rs765679022	512	P>L		No	ExAC gnomAD
COSM4334958 COSM2095151 COSM2095150 rs753365868	512	P>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1473683643	512	P>S		No	TOPMed gnomAD
rs1473683643	512	P>T		No	TOPMed gnomAD
COSM1336654 COSM1336653 COSM1336652 COSM5157618 rs753365868	513	K>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs938277054	514	V>I		No	Ensembl
rs759835839	518	M>R		No	ExAC gnomAD
rs759835839	518	M>T		No	ExAC gnomAD
COSM12783 VAR_055413	519	R>I	Variant assessed as Somatic; MODERATE impact. somatic mutation in a lung squamous cell carcinoma [NCI-TCGA, UniProt]	No	NCI-TCGA Cosmic UniProt
rs1335873917	521	C>G		No	gnomAD
rs756696356	523	K>E		No	ExAC gnomAD
rs777299525	525	S>T		No	ExAC TOPMed gnomAD
rs754261724 COSM3418409 COSM3418407 COSM3418406 COSM3418408	528	D>N	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM1336646 COSM1336648 COSM1336647 COSM4783172	529	R>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1314219219	530	P>L		No	gnomAD
rs756656457	531	S>A		No	ExAC gnomAD
rs750908916	531	S>C		No	ExAC TOPMed gnomAD
rs1436938970	535	T>I		No	gnomAD
rs371868418	537	Q>R		No	ESP ExAC TOPMed gnomAD
rs761831843	540	E>K		No	ExAC gnomAD
rs1654170946	541	T>I		No	Ensembl
rs1047953392	542	M>T		No	Ensembl
rs774421662	542	M>V		No	ExAC
rs1654169235	543	F>L		No	Ensembl
rs1214447499	543	F>V		No	TOPMed
rs146942033	544	H>R		No	ESP ExAC gnomAD
rs1572614059	545	D>N		No	TOPMed
rs1572614059	545	D>Y		No	TOPMed
rs368972305	547	S>G		No	ESP ExAC TOPMed gnomAD
rs1189174705	548	I>L		No	TOPMed
rs1654166690	548	I>N		No	Ensembl
rs1189174705	548	I>V		No	TOPMed
rs1205980429	554	E>V		No	gnomAD
rs778453700	556	L>V		No	ExAC gnomAD
rs779134320	558	R>G		No	ExAC gnomAD
TCGA novel	559	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1315040195	560	A>S		No	TOPMed gnomAD
rs1315040195	560	A>T		No	TOPMed gnomAD
rs754071952	560	A>V		No	ExAC gnomAD
rs766464283 COSM4652080 COSM4652082 COSM4652081	562	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs750118583	563	S>P		No	ExAC TOPMed gnomAD
rs1156297890	564	S>C		No	TOPMed gnomAD
rs1653938478	564	S>P		No	TOPMed
rs773916819	565	V>A		No	ExAC gnomAD
rs2102585047	565	V>F		No	Ensembl
rs762559976	566	V>I		No	ExAC gnomAD
rs775228215	567	P>A		No	ExAC gnomAD
rs1243656580	568	Y>C		No	gnomAD
rs1243656580	568	Y>S		No	gnomAD
rs1193698564	569	L>V		No	gnomAD
rs1446609968	570	P>L		No	TOPMed gnomAD
COSM6123024 COSM6123023 COSM6123022	571	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs747400049	571	R>P		No	ExAC TOPMed gnomAD
COSM6041833 COSM6041832 rs747400049 COSM6041831	571	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs769288931	571	R>W		No	1000Genomes ExAC TOPMed gnomAD
rs1291634194	573	P>L		No	gnomAD
rs1291634194	573	P>R		No	gnomAD
rs1360259019	573	P>S		No	TOPMed gnomAD
rs772775818	574	I>T		No	ExAC TOPMed gnomAD
rs1364755720	574	I>V		No	TOPMed gnomAD
rs1171025082	575	L>V		No	TOPMed gnomAD
rs955408704	577	S>Y		No	Ensembl
COSM6059926 COSM6059927 COSM6059925	578	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs755110907	578	K>R		No	ExAC gnomAD
rs2102584755	579	T>S		No	Ensembl
rs567232644 COSM1181444 COSM1181445	580	R>Q	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs749289078	580	R>W		No	ExAC TOPMed gnomAD
rs1653930038	582	L>P		No	TOPMed gnomAD
rs2102584675	583	K>E		No	Ensembl
rs1431606173	585	Q>K		No	gnomAD
rs756233104	586	V>L		No	ExAC TOPMed gnomAD
rs756233104	586	V>M		No	ExAC TOPMed gnomAD
rs2102584631	587	E>D		No	Ensembl
rs2102584623	588	N>K		No	Ensembl
rs2102584612	589	K>N		No	Ensembl
rs1240519966	591	N>D		No	gnomAD
rs949926413	591	N>K		No	TOPMed
rs1201897423	592	I>S		No	gnomAD
rs1653926976	592	I>V		No	Ensembl
rs1490518970	593	E>G		No	gnomAD
TCGA novel	594	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1220400335	595	A>T		No	gnomAD
rs2102584517	595	A>V		No	Ensembl
rs750278160	596	Q>R		No	ExAC gnomAD
rs775030033	597	D>E		No	Ensembl
rs1454401616	597	D>G		No	TOPMed gnomAD
rs1653924344	597	D>H		No	Ensembl
rs1653924344	597	D>N		No	Ensembl
rs2102584453	598	A>T		No	Ensembl
rs1163448900	598	A>V		No	TOPMed
rs1371726472	599	T>S		No	Ensembl
TCGA novel	601	N>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs375472589	601	N>K		No	ESP ExAC TOPMed gnomAD
rs1372851274	602	S>C		No	TOPMed gnomAD
rs1337860933	603	A>P		No	TOPMed gnomAD
rs1337860933	603	A>S		No	TOPMed gnomAD
rs1337860933	603	A>T		No	TOPMed gnomAD
COSM3479184 COSM3479182 COSM3479183	604	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs751475411	605	S>G		No	ExAC TOPMed gnomAD
rs1653920723	605	S>I		No	TOPMed
rs751475411	605	S>R		No	ExAC TOPMed gnomAD
rs185583542	607	A>E		No	1000Genomes ExAC TOPMed gnomAD
rs1280149657	607	A>P		No	TOPMed gnomAD
rs1280149657	607	A>T		No	TOPMed gnomAD
rs185583542	607	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs148985886	608	P>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs148985886	608	P>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs773755836	609	G>R		No	ExAC gnomAD
rs773755836	609	G>W		No	ExAC gnomAD
rs1315641112	611	I>F		No	TOPMed gnomAD
rs1315641112	611	I>V		No	TOPMed gnomAD
rs1420915953	612	R>G		No	gnomAD
rs769266022	613	G>D		No	ExAC TOPMed gnomAD
rs1298594682	613	G>S		No	gnomAD
rs769266022	613	G>V		No	ExAC TOPMed gnomAD
rs2102581295	614	A>T		No	Ensembl
rs763366211	614	A>V		No	ExAC gnomAD
rs1653823812	617	S>C		No	Ensembl
rs1290457124	618	S>G		No	TOPMed gnomAD
rs1373561953	621	P>L		No	gnomAD
rs769737776	622	A>T		No	ExAC TOPMed gnomAD
rs1247992024	623	L>P		No	TOPMed gnomAD
rs375901983	625	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs927943387	627	Q>*		No	TOPMed gnomAD
rs927943387	627	Q>E		No	TOPMed gnomAD
rs1207607331	628	R>G		No	TOPMed gnomAD
rs1653820302	628	R>K		No	TOPMed
rs368604510	629	D>N		No	ESP TOPMed gnomAD
rs1653819151	630	K>N		No	Ensembl
rs1378898743	631	S>L		No	TOPMed gnomAD
rs1572604643	631	S>P		No	Ensembl
TCGA novel	632	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	633	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs771070927	634	S>G		No	ExAC TOPMed gnomAD
TCGA novel	637	E>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1453013815	638	D>Y		No	TOPMed gnomAD
COSM900212 COSM1583773 COSM1583774	641	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs777414572	643	C>W		No	ExAC gnomAD
rs1653816758	644	F>L		No	TOPMed
rs1463609215	645	T>P		No	Ensembl
rs1396130178	647	D>G		No	TOPMed gnomAD
rs1653815955	647	D>H		No	TOPMed
rs1455521705	648	R>G		No	TOPMed gnomAD
rs932217695	648	R>T		No	TOPMed
rs1346056897	650	G>R		No	gnomAD
COSM3689167 COSM3689166 COSM3689165	651	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs758424357	651	G>S		No	ExAC gnomAD
rs1418005459	651	G>V		No	gnomAD
rs1387570545	652	F>L		No	gnomAD
rs2102580900	654	S>C		No	Ensembl
rs199575608	654	S>T		No	1000Genomes ExAC TOPMed gnomAD
rs1653811953	657	M>T		No	TOPMed
rs1653812209	657	M>V		No	TOPMed gnomAD
COSM900211 COSM1583776 COSM1583775	660	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs754569887	660	R>K		No	ExAC TOPMed gnomAD
rs754569887	660	R>T		No	ExAC TOPMed gnomAD
rs1261006075	661	N>D		No	gnomAD
rs1653810843	662	A>V		No	gnomAD
rs753332774	663	P>L		No	ExAC gnomAD
rs1214381804	663	P>S		No	gnomAD
rs141450341	664	T>A		No	ESP ExAC TOPMed gnomAD
rs1204684060	664	T>I		No	TOPMed
rs141450341	664	T>S		No	ESP ExAC TOPMed gnomAD
rs764333016	665	P>L		No	ExAC TOPMed gnomAD
rs764333016	665	P>R		No	ExAC TOPMed gnomAD
rs144066805	665	P>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs144066805	665	P>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs763563592	666	P>A		No	ExAC TOPMed gnomAD
rs1653806727	666	P>L		No	gnomAD
rs763563592	666	P>T		No	ExAC TOPMed gnomAD
COSM1583778 COSM900210 COSM1583777	667	K>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs867859702	668	R>C		No	TOPMed gnomAD
rs1367567317	668	R>H		No	TOPMed gnomAD
rs1367567317	668	R>L		No	TOPMed gnomAD
rs1006585398	670	S>N		No	Ensembl
rs1006585398	670	S>T		No	Ensembl
rs866259173	671	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs867406798	672	F>L		No	Ensembl
rs374429546	673	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1424546413	673	R>P		No	gnomAD
rs1424546413	673	R>Q		No	gnomAD
rs1367301471	675	M>T		No	gnomAD
rs1653802338	677	N>D		No	Ensembl
rs2102580486	679	P>H		No	Ensembl
rs1653801791	679	P>S		No	TOPMed
rs1572604040	680	H>R		No	TOPMed
rs1429493448	681	K>E		No	gnomAD
rs953760278	681	K>N		No	TOPMed
rs776630224	682	K>E		No	ExAC gnomAD
rs1029285276	682	K>R		No	gnomAD
rs146997813	683	Y>*		No	ESP ExAC TOPMed gnomAD
rs1486994320	683	Y>H		No	TOPMed gnomAD
rs1486994320	683	Y>N		No	TOPMed gnomAD
rs2102580399 COSM273837	684	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2102580399	684	E>Q		No	Ensembl
rs1653799610	685	L>P		No	TOPMed
rs200298510 COSM5649698 COSM5649699 COSM5649697	686	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1317818868	686	T>P		No	gnomAD
rs1263674393	687	G>C		No	gnomAD
rs2102580344	687	G>D		No	Ensembl
rs1263674393	687	G>S		No	gnomAD
rs1229266095	688	N>D		No	TOPMed gnomAD
rs1653797628	688	N>S		No	Ensembl
rs771788790	690	S>P		No	ExAC gnomAD
COSM3479181 rs2102580283 COSM3479179 COSM3479180	691	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs747939022	692	V>F		No	ExAC TOPMed gnomAD
rs747939022	692	V>I		No	ExAC TOPMed gnomAD
rs747939022	692	V>L		No	ExAC TOPMed gnomAD
rs1037676268	693	A>V		No	Ensembl
rs1653794552	694	S>F		No	TOPMed
rs1306526040	694	S>P		No	TOPMed gnomAD
rs1389131445	696	Q>*		No	gnomAD
rs1389131445	696	Q>E		No	gnomAD
rs150953979	696	Q>R		No	ESP TOPMed
rs1462778451	697	H>R		No	gnomAD
rs1300420894	697	H>Y		No	gnomAD
rs2102580128	698	A>S		No	Ensembl
rs2102580111	698	A>V		No	Ensembl
COSM268289	699	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs779708456	700	G>R		No	ExAC gnomAD
COSM4973335 COSM4973334 rs2102580080 COSM4973333	701	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA Cosmic
rs1321779506	702	S>F		No	Ensembl
rs1264641579	702	S>P		No	TOPMed gnomAD
rs1005742130	704	T>S		No	gnomAD
rs549539427	705	P>A		No	1000Genomes ExAC gnomAD
rs1312165272	705	P>L		No	gnomAD
rs549539427	705	P>T		No	1000Genomes ExAC gnomAD
rs143839622	706	A>D		No	ESP ExAC TOPMed gnomAD
rs143839622	706	A>V		No	ESP ExAC TOPMed gnomAD
rs2102580011	707	Q>R		No	Ensembl
rs2102579991	708	Q>*		No	Ensembl
rs1653789462	709	E>G		No	Ensembl
rs373382925	709	E>K		No	ESP ExAC TOPMed gnomAD
rs763258624	710	A>V		No	ExAC TOPMed gnomAD
rs1197519973	711	N>I		No	gnomAD
rs1197519973	711	N>S		No	gnomAD
rs1197519973	711	N>T		No	gnomAD
rs1261084176	712	L>P		No	TOPMed
rs529353106	713	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA gnomAD
TCGA novel	714	P>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs560562174	714	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs1040812554	716	K>N		No	TOPMed gnomAD
rs1284176390	717	C>S		No	TOPMed gnomAD
rs2102579852	717	C>S		No	Ensembl
rs1468030561	718	Y>C		No	gnomAD
rs773341075	718	Y>H		No	ExAC TOPMed gnomAD
rs773341075	718	Y>N		No	ExAC TOPMed gnomAD
rs2102579802	719	G>E		No	Ensembl
rs938085100	719	G>R		No	Ensembl
rs570913241	720	G>E		No	Ensembl
rs1175160960	720	G>R		No	TOPMed
rs1175160960	720	G>W		No	TOPMed
rs747909081	721	S>C		No	ExAC
COSM4658553 COSM4658552 COSM4658551 rs771692956	721	S>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs747909081	721	S>G		No	ExAC
rs1309724940	721	S>N		No	gnomAD
rs375297888	721	S>R		No	ESP ExAC TOPMed gnomAD
rs1309724940	721	S>T		No	gnomAD
rs2102579728	723	A>T		No	Ensembl
rs2102579702	724	Q>E		No	Ensembl
rs1329724960	726	N>K		No	TOPMed gnomAD
rs927995862	726	N>S		No	Ensembl
rs2102579674	727	L>P		No	Ensembl
rs2102579653	728	C>*		No	Ensembl
rs749208328	729	N>S		No	ExAC TOPMed gnomAD
rs1653782576	730	D>A		No	Ensembl
rs28913888	730	D>E		No	1000Genomes ExAC TOPMed gnomAD
rs1653782576	730	D>G		No	Ensembl
rs2102579635	730	D>H		No	Ensembl
rs1405043947	731	D>G		No	TOPMed
rs755705358	731	D>N		No	ExAC gnomAD
rs1553213692	732	G>D		No	Ensembl
rs148512062	732	G>S		No	ESP ExAC gnomAD
rs2102579525	733	G>S		No	Ensembl
rs1417650612	734	G>E		No	gnomAD
rs1653780116	734	G>R		No	Ensembl
rs1196461261	735	G>A		No	gnomAD
rs1196461261	735	G>D		No	gnomAD
rs1237550503	735	G>R		No	gnomAD
rs1237550503	735	G>S		No	gnomAD
rs1196461261	735	G>V		No	gnomAD
rs753057496	736	G>R		No	ExAC gnomAD
rs765579649	737	G>S		No	ExAC TOPMed gnomAD
rs755515719	738	S>G		No	ExAC gnomAD
rs755515719	738	S>R		No	ExAC gnomAD
rs2102579362	738	S>R		No	Ensembl
rs1281322678	738	S>T		No	gnomAD
rs754367934	739	G>R		No	ExAC gnomAD
rs754367934	739	G>S		No	ExAC gnomAD
rs2102579322	740	T>P		No	Ensembl
rs766834218	740	T>S		No	ExAC gnomAD
rs2102579322	740	T>S		No	Ensembl
rs760679635	741	A>G		No	ExAC gnomAD
rs1307730354	741	A>P		No	gnomAD
rs760679635	741	A>V		No	ExAC gnomAD
rs370478893	742	G>A		No	ESP TOPMed gnomAD
rs564629424	742	G>R		No	1000Genomes ExAC gnomAD
rs1336932476	743	G>A		No	TOPMed gnomAD
rs1336932476	743	G>V		No	TOPMed gnomAD
rs868612829	745	W>G		No	Ensembl
rs78418476	746	S>A		No	Ensembl
rs768551480	746	S>C		No	ExAC TOPMed gnomAD
rs768551480	746	S>F		No	ExAC TOPMed gnomAD
rs1446189705	747	G>D		No	TOPMed gnomAD
TCGA novel	748	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1243498005	750	G>D		No	gnomAD
rs2102578955	751	F>L		No	Ensembl
rs1653769152	753	T>S		No	TOPMed
rs377370937 COSM2095094 COSM2095092 COSM2095093	755	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
COSM4025561 COSM4025562 COSM4025563 rs147435995	755	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs147435995	755	R>P		No	ESP ExAC TOPMed gnomAD
rs377370937	755	R>S		No	ESP ExAC TOPMed gnomAD
rs745382146	757	I>T		No	ExAC TOPMed gnomAD
rs780736167	758	K>R		No	ExAC TOPMed gnomAD
COSM900209 COSM1583780 COSM1583779	759	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1653766539	760	T>R		No	TOPMed
rs779296824	764	R>*		No	ExAC TOPMed gnomAD
rs755370818	764	R>P		No	ExAC TOPMed gnomAD
rs755370818	764	R>Q		No	ExAC TOPMed gnomAD
rs754137125	765	A>S		No	ExAC TOPMed gnomAD
rs754137125	765	A>T		No	ExAC TOPMed gnomAD
rs1319897452	766	G>A		No	gnomAD
rs1319897452	766	G>D		No	gnomAD
rs766889202	767	K>N		No	ExAC gnomAD
COSM4025558 COSM4025559 COSM4025560	768	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1653763764	768	P>S		No	Ensembl
rs1653763764	768	P>T		No	Ensembl
rs750536789	769	T>A		No	ExAC gnomAD
rs750536789	769	T>P		No	ExAC gnomAD
rs2102578703	769	T>R		No	Ensembl
RCV000888374 rs55892721 VAR_055414	769	T>S		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2102578677	770	A>V		No	Ensembl
rs1426450675	771	S>G		No	gnomAD
rs1653761682	771	S>T		No	TOPMed
rs1342197747	772	D>G		No	TOPMed gnomAD
rs2102578643	772	D>H		No	Ensembl
rs2102578643	772	D>Y		No	Ensembl
rs2102578598	774	T>I		No	Ensembl
rs1653760867	774	T>P		No	TOPMed gnomAD
rs1653760867	774	T>S		No	TOPMed gnomAD
COSM3479177 COSM3479178 COSM3479176 rs1557906215	775	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl NCI-TCGA
rs1162428112	775	S>P		No	TOPMed gnomAD
rs751851736	776	K>M		No	ExAC gnomAD
COSM1499968 COSM6123029 COSM1499967 COSM6123028 COSM6123030 rs2102578537	776	K>N	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated Ensembl NCI-TCGA Cosmic
rs751851736	776	K>R		No	ExAC gnomAD
rs1244001409	777	P>A		No	gnomAD
rs1292743182	777	P>R		No	gnomAD
TCGA novel	777	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs762845021	780	R>S		No	ExAC TOPMed gnomAD
rs2102578486	780	R>T		No	Ensembl
rs775367035	781	S>*		No	ExAC TOPMed gnomAD
rs1653758001	781	S>A		No	TOPMed gnomAD
rs775367035	781	S>L		No	ExAC TOPMed gnomAD
rs1653758001	781	S>T		No	TOPMed gnomAD
rs769673794	782	N>D		No	ExAC TOPMed gnomAD
rs55892721	784	T>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1481454775	784	T>I		No	TOPMed gnomAD
rs2102578402	785	S>F		No	Ensembl
rs1341940897	786	S>F		No	gnomAD
rs573096158	786	S>P		No	TOPMed gnomAD
rs770450505	787	M>I		No	ExAC gnomAD
rs776041159	787	M>L		No	ExAC TOPMed gnomAD
rs776041159	787	M>V		No	ExAC TOPMed gnomAD
rs2102578307	788	S>C		No	Ensembl
rs2102578307	788	S>F		No	Ensembl
TCGA novel	788	S>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1653753547	789	S>*		No	Ensembl
rs2102578295	789	S>T		No	Ensembl
rs1653752401	790	G>E		No	TOPMed
rs1653752799	790	G>R		No	Ensembl
rs371588734	792	P>L		No	ESP ExAC TOPMed gnomAD
rs371588734	792	P>R		No	ESP ExAC TOPMed gnomAD
COSM3479173 COSM3479175 COSM3479174	792	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1557906080 TCGA novel	793	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2102578221	793	E>Q		No	Ensembl
rs1322826490	795	D>A		No	gnomAD
rs771659363	795	D>N		No	ExAC gnomAD
rs771659363	795	D>Y		No	ExAC gnomAD
TCGA novel	796	R>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs749714413	796	R>S		No	ExAC gnomAD
rs1171171572	797	M>V		No	TOPMed gnomAD
rs746707880	798	A>P		No	ExAC TOPMed gnomAD
rs746707880	798	A>S		No	ExAC TOPMed gnomAD
rs746707880	798	A>T		No	ExAC TOPMed gnomAD
rs2102578141	798	A>V		No	Ensembl
rs2102578104	799	M>I		No	Ensembl
rs1329040238	799	M>R		No	TOPMed gnomAD
rs781504947	799	M>V		No	ExAC TOPMed gnomAD
rs1459837769	800	T>I		No	TOPMed gnomAD
rs1440447969	803	R>G		No	TOPMed
rs2102578040	804	N>K		No	Ensembl
rs2102578026	805	C>Y		No	Ensembl
rs2102577990	808	S>C		No	Ensembl
rs2102577999	808	S>T		No	Ensembl
rs1010540568	809	K>E		No	TOPMed gnomAD
rs1653741383	809	K>R		No	Ensembl
rs1653740958	810	L>F		No	gnomAD
rs751620903	811	Q>*		No	ExAC
rs1274126440	811	Q>H		No	TOPMed gnomAD
rs1440098317	811	Q>R		No	gnomAD
rs2102577910	812	L>R		No	Ensembl
rs763253778	813	E>G		No	ExAC TOPMed gnomAD
rs2102577886	814	R>S		No	Ensembl
rs1572602231	815	T>I		No	Ensembl
rs2102577846	816	V>E		No	Ensembl
rs1019847389	817	S>P		No	TOPMed gnomAD
rs1275373315	818	T>A		No	TOPMed
rs772051712	819	S>A		No	ExAC TOPMed gnomAD
rs748061721	819	S>C		No	ExAC gnomAD
rs748061721	819	S>F		No	ExAC gnomAD
rs772051712	819	S>P		No	ExAC TOPMed gnomAD
rs772051712	819	S>T		No	ExAC TOPMed gnomAD
rs2102577722	820	S>F		No	Ensembl
rs759437197	820	S>T		No	ExAC gnomAD
rs2102577709	821	Q>*		No	Ensembl
rs1572602119	821	Q>H		No	Ensembl
COSM4894779 COSM4894778 COSM4894780	822	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2102577686	822	P>S		No	Ensembl
rs1653733447	823	E>G		No	gnomAD
rs1356255618	824	E>G		No	gnomAD
rs1653733239	824	E>K		No	TOPMed
rs776649749	825	N>H		No	ExAC gnomAD
rs1464915744	826	V>L		No	gnomAD
rs1464915744	826	V>M		No	gnomAD
rs770709658	827	D>H		No	ExAC
rs770709658	827	D>Y		No	ExAC
rs2102577588	828	R>M		No	Ensembl
rs1002350400	828	R>S		No	TOPMed gnomAD
rs2102577555	829	A>D		No	Ensembl
rs760193946	829	A>T		No	ExAC TOPMed gnomAD
rs2102577555	829	A>V		No	Ensembl
rs1237300540	830	N>S		No	TOPMed gnomAD
COSM6059928 COSM6059930 COSM6059929	830	N>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	831	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs553798605	831	D>H		No	1000Genomes ExAC gnomAD
rs2102577506	832	M>I		No	Ensembl
rs1371863932	832	M>T		No	gnomAD
rs771782439	832	M>V		No	ExAC TOPMed gnomAD
rs1424512686	833	L>F		No	gnomAD
rs1653729718	833	L>H		No	TOPMed
rs1653729718	833	L>P		No	TOPMed
rs2102577468	834	P>L		No	Ensembl
rs1461624022	835	K>E		No	TOPMed gnomAD
rs2102577446	836	K>*		No	Ensembl
rs146696301	836	K>I		No	1000Genomes ExAC gnomAD
TCGA novel	836	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1336640 COSM1336639 COSM252947	836	K>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	837	S>I	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs780332922	837	S>P		No	ExAC gnomAD
rs2102577378	838	E>K		No	Ensembl
rs1255707991	839	E>D		No	gnomAD
rs746176687	839	E>G		No	ExAC TOPMed gnomAD
rs2102577346	839	E>K		No	Ensembl
rs2102577346	839	E>Q		No	Ensembl
rs2102577306	840	S>N		No	Ensembl
rs2102577306 TCGA novel	840	S>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs945422413	841	A>V		No	TOPMed gnomAD
rs781723942	842	A>P		No	ExAC gnomAD
rs781723942	842	A>S		No	ExAC gnomAD
rs781723942	842	A>T		No	ExAC gnomAD
rs1653726510	843	P>L		No	TOPMed
rs2102577230	844	S>C		No	Ensembl
rs2102577220	844	S>N		No	Ensembl
rs2102577207	844	S>R		No	Ensembl
rs1312448668	845	R>M		No	gnomAD
rs1312448668	845	R>T		No	gnomAD
rs2102577179	846	E>D		No	Ensembl
rs2102577188	846	E>V		No	Ensembl
rs2102577167	847	R>I		No	Ensembl
rs757780721	848	P>A		No	ExAC gnomAD
rs757780721	848	P>S		No	ExAC gnomAD
rs757780721	848	P>T		No	ExAC gnomAD
rs1399643367	849	K>E		No	Ensembl
rs2102577103	850	A>D		No	Ensembl
rs1472177761	850	A>P		No	TOPMed
rs1472177761	850	A>S		No	TOPMed
rs2102577103	850	A>V		No	Ensembl
rs1217022914	851	K>N		No	gnomAD
rs1653724938	851	K>R		No	TOPMed
rs1168053343	852	L>I		No	TOPMed
rs1421171175	853	L>F		No	TOPMed gnomAD
rs373189989	854	P>A		No	ESP ExAC TOPMed gnomAD
rs1374429752	854	P>R		No	gnomAD
rs373189989	854	P>S		No	ESP ExAC TOPMed gnomAD
rs752942660	855	R>K		No	ExAC gnomAD
rs752942660	855	R>T		No	ExAC gnomAD
COSM1583781 COSM1583782 COSM900208	856	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1174038945	857	A>G		No	gnomAD
rs754809407	858	T>I		No	ExAC TOPMed gnomAD
rs754809407	858	T>R		No	ExAC TOPMed gnomAD
rs753521839	859	A>G		No	ExAC TOPMed gnomAD
rs2102576942	859	A>S		No	Ensembl
rs2102576942	859	A>T		No	Ensembl
rs753521839	859	A>V		No	ExAC TOPMed gnomAD
rs889523490	860	L>V		No	TOPMed
rs766401714	861	P>L		No	ExAC TOPMed gnomAD
rs766401714	861	P>R		No	ExAC TOPMed gnomAD
rs1653718392	862	L>F		No	gnomAD
rs760606454	862	L>P		No	ExAC gnomAD
rs2102576841	863	R>T		No	Ensembl
rs1245319151	864	T>I		No	gnomAD
rs766993490	865	P>L		No	ExAC TOPMed gnomAD
rs766993490	865	P>R		No	ExAC TOPMed gnomAD
rs772749898	865	P>S		No	ExAC gnomAD
rs1653714965	866	S>F		No	TOPMed
COSM900207 COSM1583783 COSM1583784	866	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1335234176	867	G>E		No	TOPMed gnomAD
rs2102576772	867	G>R		No	Ensembl
rs1335234176	867	G>V		No	TOPMed gnomAD
rs1318225054	868	D>V		No	gnomAD
rs768125812	869	L>V		No	ExAC gnomAD
rs2102576701	870	A>G		No	Ensembl
rs2102576714	870	A>S		No	Ensembl
rs2102576701	870	A>V		No	Ensembl
rs375589043	871	I>V		No	ESP ExAC TOPMed gnomAD
rs1396457751	872	T>I		No	TOPMed gnomAD
rs1396457751	872	T>R		No	TOPMed gnomAD
rs778722832	873	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs778722832	873	E>Q		No	ExAC gnomAD
rs758571122	876	P>A		No	ExAC gnomAD
rs748134240	876	P>L		No	ExAC TOPMed gnomAD
rs758571122	876	P>S		No	ExAC gnomAD
rs2102576568	877	P>L		No	Ensembl
rs2102576568	877	P>R		No	Ensembl
rs940924413	877	P>S		No	TOPMed gnomAD
rs932472903	878	G>R		No	gnomAD
rs2102576539 COSM6059931 COSM6059932 COSM1648442 COSM6059933 COSM1138813	878	G>V	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic Ensembl
COSM1146056 COSM1146055 COSM677881	878	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2102576512	879	V>E		No	Ensembl
rs2102576512	879	V>G		No	Ensembl
rs957491072	879	V>M		No	gnomAD
rs779212507	881	V>L		No	ExAC TOPMed gnomAD
rs2102576487	882	A>G		No	Ensembl
rs2102576494	882	A>T		No	Ensembl
rs2102576467	883	G>R		No	Ensembl
rs755144754	883	G>V		No	ExAC gnomAD
rs1257137093	884	V>E		No	Ensembl
rs1257137093	884	V>G		No	Ensembl
rs2102576421	885	A>S		No	Ensembl
rs2102576421	885	A>T		No	Ensembl
rs2102576403	885	A>V		No	Ensembl
rs1489091180	886	A>D		No	gnomAD
rs1489091180	886	A>G		No	gnomAD
rs756092726	886	A>P		No	ExAC gnomAD
rs756092726	886	A>S		No	ExAC gnomAD
rs756092726	886	A>T		No	ExAC gnomAD
rs1489091180	886	A>V		No	gnomAD
rs1263252330	887	A>P		No	gnomAD
rs1263252330	887	A>S		No	gnomAD
rs1263252330	887	A>T		No	gnomAD
rs1215333754	887	A>V		No	gnomAD
rs2102576318	888	P>H		No	Ensembl
rs767404502	889	K>Q		No	ExAC gnomAD
rs1245175509	890	G>S		No	gnomAD
rs2102576247	893	K>E		No	Ensembl
COSM6059934 COSM6059935 COSM6059936	893	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1310796797	894	N>D		No	TOPMed gnomAD
rs1216515411	895	G>C		No	gnomAD
rs1216515411	895	G>S		No	gnomAD
rs1341414182	896	G>R		No	gnomAD
TCGA novel	896	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs372913661	897	A>V		No	ESP ExAC gnomAD
rs1226660364 COSM4025557 COSM4025556 COSM4025555	898	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs558127546	898	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs558127546	898	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1653701848	899	L>F		No	Ensembl
rs1653701848	899	L>V		No	Ensembl
rs2102576110	900	G>R		No	Ensembl
rs2102576102	900	G>V		No	Ensembl
rs2102576070	901	M>K		No	Ensembl
rs2102576070	901	M>R		No	Ensembl
rs2102576079	901	M>V		No	Ensembl
rs762508465	902	A>G		No	ExAC gnomAD
rs2102576059	902	A>T		No	Ensembl
rs771395648	903	G>A		No	ExAC gnomAD
rs771395648	903	G>E		No	ExAC gnomAD
rs2102576036	903	G>R		No	Ensembl
rs2102576008	904	V>G		No	Ensembl
rs201832781	905	P>A		No	ESP ExAC TOPMed gnomAD
rs1173055017	905	P>R		No	gnomAD
COSM5607740 COSM5607741 COSM5607739	905	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs201832781	905	P>T		No	ESP ExAC TOPMed gnomAD
rs2102575942	907	D>E		No	Ensembl
rs1478591769	907	D>G		No	gnomAD
rs2102575962	907	D>N		No	Ensembl
rs145907038	908	G>R		No	ESP ExAC TOPMed gnomAD
rs2102575910	909	E>G		No	Ensembl
rs2102575922	909	E>K		No	Ensembl
rs538126714	910	Q>*		No	1000Genomes ExAC gnomAD
rs778857651	911	P>L		No	ExAC TOPMed gnomAD
rs778857651	911	P>R		No	ExAC TOPMed gnomAD
rs976905182	911	P>S		No	Ensembl
rs140629135	912	G>C		No	ESP ExAC TOPMed gnomAD
rs1192405558	912	G>D		No	TOPMed gnomAD
rs1572601012	913	W>*		No	Ensembl
rs1572601012	913	W>C		No	Ensembl
rs1653697601	913	W>R		No	TOPMed
rs1653696633	914	P>R		No	TOPMed
rs1653697049	914	P>T		No	TOPMed
rs1429558389	915	S>C		No	TOPMed gnomAD
rs1429558389	915	S>F		No	TOPMed gnomAD
rs1488138731	915	S>P		No	gnomAD
rs2102575724	916	P>L		No	Ensembl
rs1471158235	916	P>S		No	TOPMed gnomAD
rs1263432322	917	A>S		No	gnomAD
COSM1601298 rs1263432322 COSM1601297	917	A>T	liver [Cosmic]	No	cosmic curated gnomAD
rs2102575698	917	A>V		No	Ensembl
rs2102575681	918	K>Q		No	Ensembl
rs2102575674	919	A>P		No	Ensembl
rs1174795720	919	A>V		No	Ensembl
rs2102575632	920	A>P		No	Ensembl
rs2102575632	920	A>S		No	Ensembl
rs2102575632 TCGA novel	920	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2102575615	920	A>V		No	Ensembl
rs780201509	921	P>H		No	ExAC gnomAD
rs780201509	921	P>L		No	ExAC gnomAD
TCGA novel	921	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs750153761	922	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs750153761	922	V>L		No	ExAC gnomAD
rs1653691852	923	L>F		No	Ensembl
rs1167820209	923	L>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1653691065	924	P>L		No	gnomAD
TCGA novel	924	P>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1389284651	925	T>I		No	TOPMed gnomAD
rs1389284651	925	T>N		No	TOPMed gnomAD
rs1466477027	926	T>I		No	TOPMed gnomAD
rs202035355	926	T>S		No	TOPMed
rs1400502071	927	H>L		No	gnomAD
rs1462995400	927	H>N		No	gnomAD
rs1400502071	927	H>P		No	gnomAD
rs1169549460	927	H>Q		No	TOPMed gnomAD
rs2102575379	929	H>L		No	Ensembl
rs553308866	929	H>N		No	ExAC TOPMed gnomAD
rs17277288 RCV000949657 VAR_029232	930	K>R		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs763480632	931	V>L		No	ExAC gnomAD
rs1254064131	932	P>S		No	TOPMed gnomAD
COSM3789155 COSM3789156 COSM3789157	934	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1653685979	935	I>V		No	Ensembl
rs2102575301	936	S>*		No	Ensembl
rs1653685583	937	P>L		No	TOPMed
rs1458053893	938	T>I		No	gnomAD
COSM900205 COSM1151918 COSM1151919	938	T>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs764940830	938	T>P		No	ExAC TOPMed gnomAD
rs201190336	939	L>Q		No	1000Genomes ExAC gnomAD
rs201190336	939	L>R		No	1000Genomes ExAC gnomAD
rs773700531	941	H>D		No	ExAC TOPMed gnomAD
rs773700531	941	H>Y		No	ExAC TOPMed gnomAD
rs772773709	942	T>P		No	ExAC gnomAD
rs1215342549	944	A>G		No	TOPMed gnomAD
rs1653682426	944	A>P		No	Ensembl
rs1653682426	944	A>T		No	Ensembl
rs1215342549	944	A>V		No	TOPMed gnomAD
rs1232713778	945	D>G		No	gnomAD
rs28913889	946	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs28913889 VAR_029233	946	V>M		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2102575127	947	Q>*		No	Ensembl
rs1376666405	947	Q>L		No	gnomAD
rs566861601	948	L>H		No	1000Genomes ExAC gnomAD
rs566861601	948	L>P		No	1000Genomes ExAC gnomAD
rs745718170	949	I>T		No	ExAC gnomAD
rs181288208	950	G>D		No	1000Genomes ExAC gnomAD
rs181288208	950	G>V		No	1000Genomes ExAC gnomAD
rs1010061125	951	T>R		No	gnomAD
rs1440286658	952	D>H		No	gnomAD
rs1653678109	953	S>C		No	gnomAD
rs2102575018	954	Q>*		No	Ensembl
rs570504659	955	G>R		No	1000Genomes ExAC
rs1653676722	955	G>V		No	TOPMed gnomAD
rs570504659	955	G>W		No	1000Genomes ExAC
TCGA novel	956	N>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs777716510	957	K>R		No	ExAC TOPMed gnomAD
rs777716510	957	K>T		No	ExAC TOPMed gnomAD
TCGA novel	958	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs757877206	958	F>Y		No	ExAC TOPMed gnomAD
rs1653675066	959	K>Q		No	TOPMed
rs1303893823	959	K>R		No	TOPMed gnomAD
rs1342990261	960	L>F		No	gnomAD
rs2102574833	962	S>C		No	Ensembl
rs2102574833	962	S>F		No	Ensembl
rs150587634	962	S>P		No	ESP ExAC TOPMed gnomAD
rs150587634	962	S>T		No	ESP ExAC TOPMed gnomAD
rs1008484980	963	E>D		No	TOPMed gnomAD
rs2102574824	963	E>K		No	Ensembl
rs750859238	964	H>P		No	ExAC gnomAD
rs1653672811	964	H>Q		No	TOPMed
rs1239506687	964	H>Y		No	TOPMed
rs1450716635	965	Q>*		No	TOPMed gnomAD
rs1450716635	965	Q>E		No	TOPMed gnomAD
COSM1648444 COSM6059937 rs767751497 COSM6059938 COSM1138811 COSM6059939	965	Q>H	Variant assessed as Somatic; MODERATE impact. lung [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA Cosmic ExAC TOPMed gnomAD
rs762192924	966	V>A		No	ExAC TOPMed gnomAD
rs953840035	967	T>I		No	TOPMed gnomAD
rs774754926	968	S>C		No	ExAC TOPMed gnomAD
rs774754926 COSM2095029 COSM2095030 COSM2095031	968	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs550898579	969	S>C		No	1000Genomes ExAC TOPMed gnomAD
rs550898579	969	S>F		No	1000Genomes ExAC TOPMed gnomAD
rs1653670165	969	S>P		No	Ensembl
rs2102574659	970	G>E		No	Ensembl
rs775531153	971	D>E		No	ExAC
rs762958266	971	D>V		No	ExAC gnomAD
rs2102574609	973	D>H		No	Ensembl
rs2102574594	973	D>V		No	Ensembl
rs2102574586	974	R>*		No	Ensembl
rs770065300	974	R>L		No	ExAC TOPMed gnomAD
rs770065300	974	R>P		No	ExAC TOPMed gnomAD
rs770065300	974	R>Q		No	ExAC TOPMed gnomAD
rs746054653	975	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs746054653	975	P>R		No	ExAC TOPMed gnomAD
rs2102574556	975	P>S		No	Ensembl
rs1369223498	976	R>*		No	gnomAD
rs1334335439	976	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs137859710	977	R>L		No	ESP ExAC TOPMed gnomAD
rs137859710	977	R>Q		No	ESP ExAC TOPMed gnomAD
rs781010231	977	R>W		No	ExAC TOPMed gnomAD
rs746777962	978	V>E		No	ExAC TOPMed gnomAD
rs1422833662	978	V>I		No	TOPMed
rs1422833662	978	V>L		No	TOPMed
rs1410905363	980	P>S		No	gnomAD
TCGA novel	981	K>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs371922902	981	K>E		No	ESP ExAC gnomAD
rs778535852	981	K>N		No	ExAC TOPMed gnomAD
rs371922902	981	K>Q		No	ESP ExAC gnomAD
rs1311085535	982	C>S		No	TOPMed gnomAD
rs1311085535	982	C>Y		No	TOPMed gnomAD
rs2102574402	983	A>G		No	Ensembl
rs1057347901	983	A>S		No	TOPMed
rs2102574402	983	A>V		No	Ensembl
TCGA novel	984	P>H	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1426015098	984	P>Q		No	gnomAD
rs1434213206	984	P>S		No	TOPMed gnomAD
rs1230325951	985	P>S		No	gnomAD
rs2102574351	986	P>Q		No	Ensembl
rs2102574276	989	V>E		No	Ensembl
rs757570792	989	V>L		No	ExAC gnomAD
rs757570792	989	V>M		No	ExAC gnomAD
rs751897482	991	R>I		No	ExAC TOPMed gnomAD
rs751897482	991	R>K		No	ExAC TOPMed gnomAD
rs2102574240	991	R>S		No	Ensembl
rs751897482	991	R>T		No	ExAC TOPMed gnomAD
rs1653656194	992	L>V		No	TOPMed
rs1049620714	993	L>Q		No	Ensembl
rs2102574180	994	Q>*		No	Ensembl
rs932520617	995	H>P		No	gnomAD
rs775583969	995	H>Q		No	ExAC gnomAD
rs932520617	995	H>R		No	gnomAD
COSM1283196 rs765274634 COSM1283197	996	P>A	autonomic_ganglia [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs28913890	996	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs28913890 VAR_029234	996	P>R		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2102574097	999	C>Y		No	Ensembl
COSM4819065 COSM4819064 COSM4819063	1000	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1653652259	1000	S>L		No	TOPMed
rs370218976	1000	S>P		No	ESP ExAC gnomAD
rs1653651599	1001	D>G		No	TOPMed gnomAD
rs2102574030	1002	P>S		No	Ensembl
rs758701115	1003	T>A		No	ExAC gnomAD
rs1653650065	1004	E>K		No	TOPMed
rs145868471	1005	E>D		No	ESP
rs2102573987	1005	E>K		No	Ensembl
rs140945067	1007	T>A		No	ESP ExAC TOPMed gnomAD
rs981010598	1007	T>I		No	TOPMed gnomAD
rs140945067	1007	T>P		No	ESP ExAC TOPMed gnomAD
rs140945067	1007	T>S		No	ESP ExAC TOPMed gnomAD
rs981010598	1007	T>S		No	TOPMed gnomAD
rs748743924	1008	A>T		No	ExAC gnomAD
rs779588514	1008	A>V		No	ExAC gnomAD
rs970922574	1010	T>P		No	Ensembl
rs970922574	1010	T>S		No	Ensembl
rs1653646741	1011	A>P		No	TOPMed gnomAD
rs1653646741	1011	A>S		No	TOPMed gnomAD
rs1653646741	1011	A>T		No	TOPMed gnomAD
rs1653646457	1011	A>V		No	TOPMed gnomAD
rs764485677	1014	S>F		No	ExAC gnomAD
rs751933490	1014	S>P		No	ExAC TOPMed gnomAD
rs1438493053	1016	S>L		No	TOPMed gnomAD
rs2102573791	1017	E>K		No	Ensembl
rs1653644805	1018	T>I		No	TOPMed
rs758949211	1019	Q>R		No	ExAC gnomAD
rs1348104330	1020	E>G		No	gnomAD
rs1322647318	1021	G>R		No	gnomAD
rs1279274624	1022	G>*		No	gnomAD
rs201697670	1022	G>E		No	1000Genomes ExAC TOPMed gnomAD
rs1279274624	1022	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs765693955	1024	K>N		No	ExAC gnomAD
rs1326532721	1024	K>R		No	TOPMed
rs759615562 COSM1583786 COSM900204 COSM1583785	1025	A>T	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1421531272	1026	A>S		No	TOPMed gnomAD
rs1421531272	1026	A>T		No	TOPMed gnomAD
rs1653639288	1026	A>V		No	TOPMed
rs1193051546	1028	G>D		No	gnomAD
rs370175435	1029	A>S		No	ExAC TOPMed gnomAD
rs370175435	1029	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs140016842	1030	V>A		No	ESP ExAC TOPMed gnomAD
rs1336321412	1033	S>I		No	gnomAD
rs957026174	1033	S>R		No	TOPMed gnomAD
rs761660878	1034	G>R		No	ExAC gnomAD
rs1399111512	1035	K>N		No	TOPMed gnomAD
rs768660163	1035	K>T		No	ExAC gnomAD
rs1000851701	1036	A>G		No	TOPMed
rs1430395259	1036	A>S		No	TOPMed gnomAD
rs1430395259	1036	A>T		No	TOPMed gnomAD
rs1174945821	1037	G>R		No	TOPMed
rs1270256431	1039	P>L		No	gnomAD
rs1049672159	1040	V>M		No	Ensembl
rs745508541	1041	M>I		No	ExAC TOPMed gnomAD
rs780655730	1042	P>L		No	ExAC TOPMed gnomAD
rs1472814341	1043	P>L		No	gnomAD
rs758793584	1043	P>S		No	ExAC TOPMed gnomAD
rs370534653	1044	P>S		No	ExAC TOPMed gnomAD
COSM3369419 COSM3369421 COSM3369420 rs1653629374	1045	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed gnomAD
rs1557903363	1045	Q>P		No	Ensembl
rs1557903363	1045	Q>R		No	Ensembl
rs1360791310	1047	P>A		No	TOPMed gnomAD
rs1378871681	1049	P>L		No	gnomAD
rs779405200	1050	T>A		No	ExAC TOPMed gnomAD
rs753906168	1052	S>F		No	ExAC gnomAD
rs1572598938	1052	S>P		No	Ensembl
rs759037308	1054	S>L		No	ExAC TOPMed gnomAD
COSM1738406 rs761718039 COSM1738405	1055	P>R	NS [Cosmic]	No	cosmic curated ExAC gnomAD
rs1339508103	1056	A>T		No	TOPMed
rs1239149231	1057	K>I		No	TOPMed gnomAD
rs1239149231	1057	K>R		No	TOPMed gnomAD
rs768782792	1059	A>D		No	ExAC TOPMed gnomAD
rs768782792	1059	A>V		No	ExAC TOPMed gnomAD
rs189362240	1060	N>S		No	1000Genomes ExAC TOPMed gnomAD
rs202244816	1062	T>I		No	Ensembl
rs1312285677	1063	A>V		No	gnomAD
COSM4025549 COSM4025550 COSM4025551	1064	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1653622366	1064	G>D		No	TOPMed
rs1653621762	1065	T>A		No	TOPMed gnomAD
rs267598207	1067	V>M		No	Ensembl
COSM1336637 COSM1336638 COSM1336636	1068	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1653620332	1071	K>E		No	Ensembl
rs1231949214	1072	T>I		No	gnomAD
rs1355824743	1073	K>E		No	gnomAD
rs1653618547	1076	A>G		No	Ensembl
rs776258704	1076	A>S		No	ExAC TOPMed gnomAD
rs776258704	1076	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1480907861	1077	E>G		No	TOPMed gnomAD
rs770512822	1077	E>Q		No	ExAC TOPMed gnomAD
rs748568984 COSM3369418 COSM3369417 COSM3369416	1080	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC TOPMed gnomAD
rs748568984	1080	S>L		No	ExAC TOPMed gnomAD
rs1311194199	1082	D>G		No	gnomAD
rs973835454	1083	K>R		No	Ensembl
rs1653614366	1084	I>N		No	gnomAD
TCGA novel	1084	I>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1175194097	1085	S>G		No	TOPMed
VAR_029235 rs28913891	1085	S>N		No	UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs754393046	1086	K>*		No	ExAC TOPMed gnomAD
rs1653610813	1087	E>D		No	Ensembl
rs1209005307	1087	E>Q		No	gnomAD
rs367698238	1088	A>D		No	ESP ExAC TOPMed
TCGA novel rs1653610364	1088	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs767912620	1090	L>P		No	ExAC gnomAD
rs1483393971	1091	E>K		No	gnomAD
rs1483393971	1091	E>Q		No	gnomAD
rs762124767	1092	C>R		No	ExAC gnomAD
rs577604298	1092	C>Y		No	1000Genomes ExAC gnomAD
rs2102572723	1093	A>T		No	Ensembl
rs1653606762	1093	A>V		No	gnomAD
rs1572598383	1094	D>A		No	Ensembl
rs763955895	1094	D>Y		No	ExAC gnomAD
rs149947908	1095	L>I		No	ESP ExAC TOPMed gnomAD
rs146190825	1097	S>T		No	ESP ExAC TOPMed gnomAD
rs142446654	1098	S>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1653602046	1099	A>T		No	Ensembl
rs2102572623	1099	A>V		No	Ensembl
rs2102572607	1100	L>F		No	Ensembl
rs2102572607	1100	L>I		No	Ensembl
rs28913892 VAR_029236	1101	T>A		No	UniProt dbSNP gnomAD
rs746643698	1101	T>M		No	ExAC TOPMed gnomAD
rs746643698	1101	T>R		No	ExAC TOPMed gnomAD
rs1653599045	1102	E>D		No	gnomAD
rs2102572529	1103	P>S		No	Ensembl
rs1298144395	1104	V>L		No	gnomAD
rs956882963	1105	P>A		No	Ensembl
rs956882963	1105	P>S		No	Ensembl
rs559270365	1106	N>S		No	Ensembl
rs2102572450	1107	S>N		No	Ensembl
rs2102572450	1107	S>T		No	Ensembl
rs2102572427	1108	Q>H		No	Ensembl
rs1653598043	1108	Q>K		No	Ensembl
rs2102572436	1108	Q>L		No	Ensembl
rs1653597448	1110	V>I		No	Ensembl
rs1653597448	1110	V>L		No	Ensembl
rs2102572341	1114	H>Q		No	Ensembl
rs2102572360	1114	H>Y		No	Ensembl
rs1224926315	1115	Q>K		No	TOPMed
rs1653595951	1117	L>F		No	Ensembl
rs1653595673	1118	D>H		No	TOPMed
rs1653595433	1119	Y>H		No	TOPMed
rs2102572258	1120	C>F		No	Ensembl
rs2102572258	1120	C>S		No	Ensembl
rs2102572258	1120	C>Y		No	Ensembl
rs1321430529	1121	S>L		No	TOPMed gnomAD
rs2102572222	1122	G>C		No	Ensembl
rs2102572214	1122	G>D		No	Ensembl
rs1185085334	1124	V>L		No	TOPMed gnomAD
rs1185085334	1124	V>M		No	TOPMed gnomAD
rs1653593523	1125	D>G		No	Ensembl
COSM1583787 COSM900202 COSM1583788 rs2102572175	1125	D>Y	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs780627822	1126	C>R		No	ExAC gnomAD
rs2102572136	1126	C>Y		No	Ensembl
rs1653592087	1127	I>L		No	TOPMed
rs1032424324	1128	P>H		No	TOPMed gnomAD
rs1032424324	1128	P>L		No	TOPMed gnomAD
COSM5607738 COSM5607736 COSM5607737	1128	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1653591279	1129	Q>*		No	Ensembl
rs2102572093	1130	T>S		No	Ensembl
rs1000903902	1131	R>C		No	gnomAD
rs746029416	1131	R>H		No	ExAC gnomAD
rs746029416	1131	R>P		No	ExAC gnomAD
rs1266977400	1132	N>S		No	gnomAD
rs953424361	1133	K>Q		No	Ensembl
rs1028958207	1134	F>L		No	Ensembl
rs2102572038	1135	A>V		No	Ensembl
rs2102572012	1136	F>Y		No	Ensembl
rs1271521457	1137	R>*		No	TOPMed gnomAD
rs1653588125	1137	R>Q		No	Ensembl
rs1653587578	1138	E>Q		No	Ensembl
rs2102571956	1139	A>S		No	Ensembl
rs2102571956	1139	A>T		No	Ensembl
rs2102571945	1139	A>V		No	Ensembl
rs1653587316	1140	V>M		No	TOPMed
rs2102571933	1141	S>N		No	Ensembl
rs1299135737	1141	S>R		No	Ensembl
rs1341244020	1142	K>E		No	gnomAD
rs2102571905	1143	L>P		No	Ensembl
rs148342392	1144	E>D		No	ESP ExAC TOPMed gnomAD
COSM1583789 COSM1583790 COSM900201	1144	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3984505 COSM3984507 COSM3984506	1145	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1003114480	1146	S>R		No	TOPMed gnomAD
rs2102571853	1147	L>Q		No	Ensembl
rs2102571826	1148	Q>*		No	Ensembl
rs1309184677	1148	Q>R		No	Ensembl
rs1653584675	1149	E>K		No	TOPMed
rs758213320	1151	Q>*		No	ExAC gnomAD
rs367997091	1151	Q>H		No	ESP ExAC TOPMed gnomAD
rs143405311	1153	S>C		No	ESP ExAC TOPMed gnomAD
rs143405311	1153	S>F		No	ESP ExAC TOPMed gnomAD
rs776156613	1154	S>L		No	ExAC TOPMed gnomAD
rs1557902495	1155	A>V		No	Ensembl
rs1321403969	1156	A>V		No	TOPMed
rs2102571733	1157	A>T		No	Ensembl
rs2102571718	1157	A>V		No	Ensembl
rs765897237	1158	G>S		No	ExAC TOPMed gnomAD
rs760140461	1158	G>V		No	ExAC TOPMed gnomAD
rs2102571650	1160	P>S		No	Ensembl
rs2102571608	1161	G>E		No	Ensembl
COSM1336633 rs1467885528 COSM1336635 COSM1336634	1161	G>R	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1467885528	1161	G>W		No	TOPMed gnomAD
rs138532009	1162	T>A		No	ESP TOPMed
COSM1336631 COSM1336632 COSM1336630	1163	N>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1572597704	1163	N>T		No	Ensembl
rs199707055	1164	P>A		No	1000Genomes ExAC TOPMed gnomAD
rs746358471	1164	P>L		No	ExAC TOPMed gnomAD
rs199707055	1164	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1318928335	1167	N>D		No	TOPMed gnomAD
rs1464394559	1171	S>P		No	TOPMed
rs778069076	1172	C>F		No	ExAC TOPMed
rs778069076	1172	C>Y		No	ExAC TOPMed
rs1653570747	1173	V>I		No	TOPMed gnomAD
rs2102571447	1174	Q>*		No	Ensembl
rs1450272917	1174	Q>R		No	TOPMed
TCGA novel	1175	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1213478616	1177	S>G		No	TOPMed gnomAD
rs752602354	1177	S>I		No	ExAC gnomAD
rs752602354	1177	S>N		No	ExAC gnomAD
rs1213478616	1177	S>R		No	TOPMed gnomAD
rs2102571388	1177	S>R		No	Ensembl
rs1653567199	1178	D>E		No	gnomAD
rs1322797803	1178	D>H		No	gnomAD
COSM1583791 COSM1583792 COSM900200	1178	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2102571364	1179	V>M		No	Ensembl
rs1378579760	1180	V>G		No	TOPMed
rs754754439	1182	R>G		No	ExAC gnomAD
rs753806668	1182	R>S		No	ExAC gnomAD
rs2102571319	1183	R>Y		No	Ensembl

No associated diseases with P42684

2 regional properties for P42684

Type	Name	Position	InterPro Accession
domain	Longin domain	3 - 126	IPR010908
domain	v-SNARE, coiled-coil homology domain	133 - 210	IPR042855

Functions

		Description
EC Number	2.7.10.2	Protein-tyrosine kinases
Subcellular Localization	Cytoplasm, cytoskeleton
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

9 GO annotations of molecular function

Name	Definition
actin filament binding	Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
actin monomer binding	Binding to monomeric actin, also known as G-actin.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
magnesium ion binding	Binding to a magnesium (Mg) ion.
manganese ion binding	Binding to a manganese ion (Mn).
non-membrane spanning protein tyrosine kinase activity	Catalysis of the reaction
phosphotyrosine residue binding	Binding to a phosphorylated tyrosine residue within a protein.
protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction
protein tyrosine kinase activity	Catalysis of the reaction

20 GO annotations of biological process

Name	Definition
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
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.
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.
exploration behavior	The specific behavior of an organism in response to a novel environment or stimulus.
negative regulation of Rho protein signal transduction	Any process that stops, prevents, or reduces the frequency, rate or extent of Rho protein signal transduction.
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
positive regulation of cytosolic calcium ion concentration	Any process that increases the concentration of calcium ions in the cytosol.
positive regulation of establishment of T cell polarity	Any process that activates or increases the frequency, rate or extent of establishment of T cell polarity.
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 oxidoreductase activity	Any process that activates or increases the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered.
positive regulation of phospholipase C activity	Any process that increases the rate of phospholipase C activity.
positive regulation of T cell migration	Any process that activates or increases the frequency, rate or extent of T cell migration.
protein modification process	The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification).
regulation of actin cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of autophagy	Any process that modulates the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
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 motility	Any process that modulates the frequency, rate or extent of cell motility.
regulation of endocytosis	Any process that modulates the frequency, rate or extent of endocytosis.
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.

29 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P00522	Abl	Tyrosine-protein kinase Abl	Drosophila melanogaster (Fruit fly)	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
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
P00519	ABL1	Tyrosine-protein kinase ABL1	Homo sapiens (Human)	EV
P00520	Abl1	Tyrosine-protein kinase ABL1	Mus musculus (Mouse)	EV
Q4JIM5	Abl2	Tyrosine-protein kinase ABL2	Mus musculus (Mouse)	SS
P03949	abl-1	Tyrosine-protein kinase abl-1	Caenorhabditis elegans	SS

10	20	30	40	50	60
MGQQVGRVGE	APGLQQPQPR	GIRGSSAARP	SGRRRDPAGR	TTETGFNIFT	QHDHFASCVE
70	80	90	100	110	120
DGFEGDKTGG	SSPEALHRPY	GCDVEPQALN	EAIRWSSKEN	LLGATESDPN	LFVALYDFVA
130	140	150	160	170	180
SGDNTLSITK	GEKLRVLGYN	QNGEWSEVRS	KNGQGWVPSN	YITPVNSLEK	HSWYHGPVSR
190	200	210	220	230	240
SAAEYLLSSL	INGSFLVRES	ESSPGQLSIS	LRYEGRVYHY	RINTTADGKV	YVTAESRFST
250	260	270	280	290	300
LAELVHHHST	VADGLVTTLH	YPAPKCNKPT	VYGVSPIHDK	WEMERTDITM	KHKLGGGQYG
310	320	330	340	350	360
EVYVGVWKKY	SLTVAVKTLK	EDTMEVEEFL	KEAAVMKEIK	HPNLVQLLGV	CTLEPPFYIV
370	380	390	400	410	420
TEYMPYGNLL	DYLRECNREE	VTAVVLLYMA	TQISSAMEYL	EKKNFIHRDL	AARNCLVGEN
430	440	450	460	470	480
HVVKVADFGL	SRLMTGDTYT	AHAGAKFPIK	WTAPESLAYN	TFSIKSDVWA	FGVLLWEIAT
490	500	510	520	530	540
YGMSPYPGID	LSQVYDLLEK	GYRMEQPEGC	PPKVYELMRA	CWKWSPADRP	SFAETHQAFE
550	560	570	580	590	600
TMFHDSSISE	EVAEELGRAA	SSSSVVPYLP	RLPILPSKTR	TLKKQVENKE	NIEGAQDATE
610	620	630	640	650	660
NSASSLAPGF	IRGAQASSGS	PALPRKQRDK	SPSSLLEDAK	ETCFTRDRKG	GFFSSFMKKR
670	680	690	700	710	720
NAPTPPKRSS	SFREMENQPH	KKYELTGNFS	SVASLQHADG	FSFTPAQQEA	NLVPPKCYGG
730	740	750	760	770	780
SFAQRNLCND	DGGGGGGSGT	AGGGWSGITG	FFTPRLIKKT	LGLRAGKPTA	SDDTSKPFPR
790	800	810	820	830	840
SNSTSSMSSG	LPEQDRMAMT	LPRNCQRSKL	QLERTVSTSS	QPEENVDRAN	DMLPKKSEES
850	860	870	880	890	900
AAPSRERPKA	KLLPRGATAL	PLRTPSGDLA	ITEKDPPGVG	VAGVAAAPKG	KEKNGGARLG
910	920	930	940	950	960
MAGVPEDGEQ	PGWPSPAKAA	PVLPTTHNHK	VPVLISPTLK	HTPADVQLIG	TDSQGNKFKL
970	980	990	1000	1010	1020
LSEHQVTSSG	DKDRPRRVKP	KCAPPPPPVM	RLLQHPSICS	DPTEEPTALT	AGQSTSETQE
1030	1040	1050	1060	1070	1080
GGKKAALGAV	PISGKAGRPV	MPPPQVPLPT	SSISPAKMAN	GTAGTKVALR	KTKQAAEKIS
1090	1100	1110	1120	1130	1140
ADKISKEALL	ECADLLSSAL	TEPVPNSQLV	DTGHQLLDYC	SGYVDCIPQT	RNKFAFREAV
1150	1160	1170	1180
SKLELSLQEL	QVSSAAAGVP	GTNPVLNNLL	SCVQEISDVV	QR

Descriptions

Annotation based on sequence homology with P00520

Autoinhibitory domains (AIDs)

Accessory elements

426-450 (Activation loop from InterPro)

References

Autoinhibited structure

Activated structure

10 structures for P42684

1517 variants for P42684

No associated diseases with P42684

2 regional properties for P42684

Functions

2 GO annotations of cellular component

9 GO annotations of molecular function

20 GO annotations of biological process

29 homologous proteins in AiPD