AiPD: Autoinhibited Protein Database

P00519

Gene name	ABL1 (ABL, JTK7)
Protein name	Tyrosine-protein kinase ABL1
Names	Abelson murine leukemia viral oncogene homolog 1, Abelson tyrosine-protein kinase 1, Proto-oncogene c-Abl, p150
Species	Homo sapiens (Human)
KEGG Pathway	hsa:25
EC number	2.7.10.2: Protein-tyrosine kinases
Protein Class	TYROSINE-PROTEIN KINASE (PTHR24418)

Descriptions

Abelson tyrosine kinase (Abl1) is a non-receptor tyrosine kinase involved in many processes linked to cell growth and survival, and cytoskeleton remodeling, cell motility and adhesion, receptor endocytosis, autophagy, DNA damage response and apoptosis. Abl protein contains a domain cassette of CAP-SH3-SH2-tyrosine-protein kinase (Src homology 3-Src homology 2-tyrosine kinase), which confers autoregulated kinase activity.
Structural and biochemical studies revealed multiple autoinhibitory mechanisms. Briefly, the N-terminal CAP interacts with the tyrosine-protein kinase domain and weakly interacts with SH3 and SH2 domains. Thus, the CAP together with other domains clamp together and occlude the binding site of the kinase domain.
When N-terminal CAP region is deleted, it fully recovers the activity of Abl. Mutation of Gly at position 2 to Ala dramatically increases Abl activity. The recovered activity is comparable to that of Abl in which the two Pro residues in the linker region between SH2 and kinase domain are mutated, which are known to involve in autoinhibition. When the CAP region is myristoylated, the N-terminal myristoyl moiety is sequestered in a hydrophobic pocket in the large lobe of the kinase domain. The deletion of SH3 domain also increases kinase activity of Abl1. The linker between SH2 and kinase domain has two Pro residues and this linker interacts with SH3 domain. When the two Pro residues are mutated, it leads to activation of Abl. When both G2A mutation in CAP and Pro residue mutations in linker are introduced, the Abl activity is more activated.
C-terminal F-actin binding domain is also involved in autoinhibition and this autoinhibition is independent from the CAP-based autoinhibition. Deletion of the C-terminal F-actin binding domain recovers the kinase activity, and addition of F-actin that binds to the domain also increases kinase activity. However, deletion of SH3 domain does not relieve F-actin domain-based autoinhibition. Thus, this autoinhibition is another mechanism to regulate Abl. In addition to AiEs, Abl contains an activation loop that blocks the active site of the kinase domain. Phosphorylation of Tyr within the activation loop releases the active site masking.

Autoinhibitory domains (AIDs)

Target domain	242-493 (Protein kinase domain)
Relief mechanism	PTM
Assay	Deletion assay, Structural analysis

AID

1-60 (N-terminal CAP)

Target domain

242-493 (Protein kinase domain)

Relief mechanism

PTM (Myristoylation of N-terminal CAP)

Assay

Deletion assay, Structural analysis

Target domain	242-493 (Protein kinase domain)
Relief mechanism	PTM, Ligand binding, Others
Assay	Deletion assay, Mutagenesis experiment, Structural analysis

AID

61-121 (SH3 domain)

Target domain

242-493 (Protein kinase domain)

Relief mechanism

PTM (Phosphorylation on SH2-kinase linker), Ligand binding (Phosphotyrosine-ligand binding), Others (Myristoyl displacement)

Assay

Deletion assay, Mutagenesis experiment, Structural analysis

Target domain	242-493 (Protein kinase domain)
Relief mechanism	PTM, Ligand binding, Others
Assay	Deletion assay, Structural analysis

AID

127-217 (SH2 domain)

Target domain

242-493 (Protein kinase domain)

Relief mechanism

PTM (Phosphorylation on SH2-kinase linker), Ligand binding (Phosphotyrosine-ligand binding), Others (Myristoyl displacement)

Assay

Deletion assay, Structural analysis

Target domain	242-493 (Protein kinase domain)
Relief mechanism	PTM, Ligand binding
Assay	Mutagenesis experiment, Structural analysis

AID

218-241 (SH2-kinase linker region)

Target domain

242-493 (Protein kinase domain)

Relief mechanism

PTM (Autophosphorylation of tyrosine residues via oligomerization, phosphorylation on SH2-kinase linker), Ligand binding (Phosphotyrosine-ligand binding)

Assay

Mutagenesis experiment, Structural analysis

Target domain	242-493 (Protein kinase domain)
Relief mechanism	Partner binding
Assay	Deletion assay, Structural analysis

AID

1004-1130 (F-actin binding domain)

Target domain

242-493 (Protein kinase domain)

Relief mechanism

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

Assay

Deletion assay, Structural analysis

Accessory elements

380-404 (Activation loop from InterPro)

Target domain	242-493 (Protein kinase domain)
Relief mechanism
Assay

References

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

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

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

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

Autoinhibited structure

Activated structure

82 structures for P00519

Entry ID	Method	Resolution	Chain	Position	Source
1AB2	NMR	-	A	120-220	PDB
1AWO	NMR	-	A	65-119	PDB
1BBZ	X-ray	165 A	A/C/E/G	64-121	PDB
1JU5	NMR	-	C	62-122	PDB
1OPL	X-ray	342 A	A/B	27-512	PDB
1ZZP	NMR	-	A	1007-1130	PDB
2ABL	X-ray	250 A	A	57-218	PDB
2E2B	X-ray	220 A	A/B	229-515	PDB
2F4J	X-ray	191 A	A	229-513	PDB
2FO0	X-ray	227 A	A	38-512	PDB
2G1T	X-ray	180 A	A/B/C/D	229-512	PDB
2G2F	X-ray	270 A	A/B	229-512	PDB
2G2H	X-ray	200 A	A/B	229-512	PDB
2G2I	X-ray	312 A	A/B	229-512	PDB
2GQG	X-ray	240 A	A/B	229-500	PDB
2HIW	X-ray	220 A	A/B	230-512	PDB
2HYY	X-ray	240 A	A/B/C/D	228-500	PDB
2HZ0	X-ray	210 A	A/B	228-497	PDB
2HZ4	X-ray	280 A	A/B/C	228-500	PDB
2HZI	X-ray	170 A	A/B	229-500	PDB
2O88	X-ray	175 A	A/B	64-121	PDB
2V7A	X-ray	250 A	A/B	229-512	PDB
3CS9	X-ray	221 A	A/B/C/D	229-500	PDB
3EG0	X-ray	230 A	A	60-121	PDB
3EG1	X-ray	185 A	A/B	60-121	PDB
3EG2	X-ray	180 A	A	60-121	PDB
3EG3	X-ray	140 A	A	60-121	PDB
3EGU	X-ray	225 A	A	60-121	PDB
3K2M	X-ray	175 A	A/B	121-232	PDB
3PYY	X-ray	185 A	A/B	229-512	PDB
3QRI	X-ray	210 A	A/B	229-499	PDB
3QRJ	X-ray	182 A	A/B	229-499	PDB
3QRK	X-ray	230 A	A	229-499	PDB
3T04	X-ray	210 A	A	112-232	PDB
3UE4	X-ray	242 A	A/B	229-512	PDB
3UYO	X-ray	183 A	A	112-232	PDB
4J9B	X-ray	170 A	A	60-121	PDB
4J9C	X-ray	105 A	A	60-121	PDB
4J9D	X-ray	150 A	A/C/E	60-121	PDB
4J9E	X-ray	140 A	A/C/E	60-121	PDB
4J9F	X-ray	109 A	A/C/E	60-121	PDB
4J9G	X-ray	180 A	A/C/E	60-121	PDB
4J9H	X-ray	170 A	A/B/C/D/E/F	60-121	PDB
4J9I	X-ray	220 A	A/C/E	60-121	PDB
4JJB	X-ray	165 A	A	60-121	PDB
4JJC	X-ray	160 A	A	60-121	PDB
4JJD	X-ray	160 A	A	60-121	PDB
4TWP	X-ray	240 A	A/B	233-503	PDB
4WA9	X-ray	220 A	A/B	246-512	PDB
4XEY	X-ray	289 A	A/B	119-515	PDB
4YC8	X-ray	290 A	A/B	229-512	PDB
4ZOG	X-ray	230 A	A/B	229-511	PDB
5DC0	X-ray	223 A	B	112-232	PDB
5DC4	X-ray	148 A	A	112-232	PDB
5DC9	X-ray	156 A	A	112-232	PDB
5HU9	X-ray	153 A	A	229-500	PDB
5MO4	X-ray	217 A	A	27-515	PDB
5NP2	X-ray	160 A	A/B	64-120	PDB
5OAZ	X-ray	103 A	A/B	60-121	PDB
6AMV	NMR	-	A	26-236	PDB
6AMW	NMR	-	A	26-236	PDB
6BL8	X-ray	250 A	A/B	233-504	PDB
6NPE	X-ray	215 A	A/B	229-512	PDB
6NPU	X-ray	233 A	A/B	229-512	PDB
6NPV	X-ray	186 A	A/B	229-512	PDB
6XR6	NMR	-	A	229-515	PDB
6XR7	NMR	-	A	229-515	PDB
6XRG	NMR	-	A	229-515	PDB
7CC2	X-ray	272 A	A/B	229-510	PDB
7DT2	X-ray	230 A	A/B	229-510	PDB
7N9G	X-ray	220 A	A/B/C	229-499	PDB
7PVQ	X-ray	155 A	A/B	63-120	PDB
7PVR	X-ray	165 A	A	63-120	PDB
7PVS	X-ray	105 A	A/B	63-120	PDB
7PVV	X-ray	182 A	A	63-120	PDB
7PW2	X-ray	110 A	A	63-120	PDB
7W7X	X-ray	200 A	A/B	229-500	PDB
7W7Y	X-ray	220 A	A/B	229-504	PDB
8H7F	X-ray	245 A	A/B	229-500	PDB
8H7H	X-ray	228 A	A/B	229-500	PDB
8SSN	X-ray	286 A	A/B	64-510	PDB
AF-P00519-F1	Predicted				AlphaFoldDB

808 variants for P00519

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1830947813 RCV001269278	99	W>R	Congenital heart defects and skeletal malformations syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001265617 rs1830948350	117	T>M	Congenital heart defects and skeletal malformations syndrome [ClinVar]	Yes	ClinVar dbSNP
rs909306692 RCV001337081 CA200680473	212	T>M	Congenital heart defects and skeletal malformations syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001796027 rs1060499547 RCV000445576 CA16609342 VAR_079482 RCV000496944	226	Y>C	Congenital heart defects and skeletal malformations syndrome Congenital heart disease CHDSKM; increases kinase activity; no effect on protein levels [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1831097846 RCV001175161	230	P>L	Congenital heart defects and skeletal malformations syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000417997 rs387906517 RCV000013461 CA122581	236	E>K	Chronic myelogenous leukemia, BCR-ABL1 positive Leukemia, Philadelphia chromosome-positive, resistant to imatinib [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA122578 RCV000013460 rs387906516	236	E>V	Leukemia, Philadelphia chromosome-positive, resistant to imatinib [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs121913456 RCV000440973 CA16602545 COSM12608	244	M>V	Chronic myelogenous leukemia, BCR-ABL1 positive haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs121913455 RCV000420247 COSM12631 CA16602546	248	L>V	Chronic myelogenous leukemia, BCR-ABL1 positive haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM12577 RCV000430260 rs121913453 CA16602547	250	G>E	Chronic myelogenous leukemia, BCR-ABL1 positive haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000422852 CA16602549 COSM12609 COSM12632 rs121913458	252	Q>H	Chronic myelogenous leukemia, BCR-ABL1 positive haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA16602548 COSM12609 COSM12632 RCV000440949 rs121913458	252	Q>H	Chronic myelogenous leukemia, BCR-ABL1 positive haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM1460517 CA16602550 rs121913460 COSM12610 RCV000422595	253	Y>F	large_intestine Chronic myelogenous leukemia, BCR-ABL1 positive haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000433552 CA122584 rs121913461 COSM12576 RCV000439817 RCV000013462	253	Y>H	Chronic myelogenous leukemia, BCR-ABL1 positive Leukemia, Philadelphia chromosome-positive, resistant to imatinib haematopoietic_and_lymphoid_tissue Lymphoblastic leukemia, acute, with lymphomatous features [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs121913448 COSM12573 RCV000432426 CA16602551	255	E>K	Chronic myelogenous leukemia, BCR-ABL1 positive haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM12574 CA16602552 rs121913449 RCV000443466 RCV001255639	255	E>V	Lip and oral cavity carcinoma Chronic myelogenous leukemia, BCR-ABL1 positive haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1057519758 RCV000424931 CA16602553	283	F>V	Chronic myelogenous leukemia, BCR-ABL1 positive [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA16602575 rs1057519771 RCV000428688	299	V>L	Chronic myelogenous leukemia, BCR-ABL1 positive [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000013463 COSM12648 rs137853304 CA122587	311	F>L	Chronic myelogenous leukemia, BCR-ABL1 positive haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000438506 rs1057519772 CA16602576	315	T>A	Chronic myelogenous leukemia, BCR-ABL1 positive [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA122575 rs121913459 RCV000442565 RCV000013459 COSM12560 RCV000432136	315	T>I	Chronic myelogenous leukemia, BCR-ABL1 positive Leukemia, Philadelphia chromosome-positive, resistant to imatinib haematopoietic_and_lymphoid_tissue Lymphoblastic leukemia, acute, with lymphomatous features [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000440988 CA16602579 rs1057519774	317	F>C	Chronic myelogenous leukemia, BCR-ABL1 positive [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA16602577 RCV000421381 rs1057519773	317	F>I	Chronic myelogenous leukemia, BCR-ABL1 positive [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs121913451 COSM49074 CA16602554 RCV000424701 COSM12575 COSM131573	317	F>L	Chronic myelogenous leukemia, BCR-ABL1 positive haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs121913451 COSM49074 RCV000438035 COSM12575 COSM131573 CA16602555	317	F>L	Chronic myelogenous leukemia, BCR-ABL1 positive haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM49074 rs1057519773 RCV000444847 CA16602794 COSM12575 COSM131573	317	F>L	Chronic myelogenous leukemia, BCR-ABL1 positive haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000430721 CA16602578 COSM211607 rs1057519773	317	F>V	Chronic myelogenous leukemia, BCR-ABL1 positive haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
VAR_079483 CA16609341 RCV000496371 rs1060499548 RCV000445566 RCV000492810	337	A>T	Congenital heart defects and skeletal malformations syndrome Congenital heart disease CHDSKM; increases kinase activity; no effect on protein levels [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
COSM12578 RCV000420800 CA122590 rs121913457	351	M>T	Chronic myelogenous leukemia, BCR-ABL1 positive haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000427169 rs121913450 COSM12611 CA16602556	355	E>G	Chronic myelogenous leukemia, BCR-ABL1 positive haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1057519775 COSM1732691 CA16602582 RCV000442919	359	F>C	Chronic myelogenous leukemia, BCR-ABL1 positive haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA16602580 rs121913452 COSM133668 RCV000424157	359	F>I	Chronic myelogenous leukemia, BCR-ABL1 positive haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA16602581 RCV000434412 rs121913452	359	F>L	Chronic myelogenous leukemia, BCR-ABL1 positive [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM12605 RCV000437822 CA16602557 rs121913452	359	F>V	Chronic myelogenous leukemia, BCR-ABL1 positive haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM12604 RCV000419848 COSM1460541 CA16602558 rs121913454 RCV001255640	396	H>R	Lip and oral cavity carcinoma large_intestine Chronic myelogenous leukemia, BCR-ABL1 positive haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1831388695 RCV001263086	433	A>T	Congenital heart defects and skeletal malformations syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1831426169 RCV001265944	502	I>T	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001527376 RCV001263087 rs1831432776	506	V>A	Congenital heart defects and skeletal malformations syndrome Microcephaly [ClinVar]	Yes	ClinVar dbSNP
rs1831432715 RCV001265618	506	V>M	Congenital heart defects and skeletal malformations syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002225818 RCV001263088 rs1831433011	509	E>K	Congenital heart defects and skeletal malformations syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1831433170 RCV001265619	511	G>R	Congenital heart defects and skeletal malformations syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1355021408 RCV001330378	784	P>L	Congenital heart defects and skeletal malformations syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1831540679 RCV001196904	845	P>missing	Congenital heart defects and skeletal malformations syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1330364358 RCV001337080	1037	E>Q	Congenital heart defects and skeletal malformations syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001198566 rs768811183 CA5285888	1068	V>A	Congenital heart defects and skeletal malformations syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1479537095 CA375251338	2	L>M		No	ClinGen gnomAD
rs1430184898 CA375251347	3	E>*		No	ClinGen gnomAD
CA5285141 rs369076507	3	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1012244732 CA200657513	6	L>V		No	ClinGen TOPMed
CA375251385 rs1351762246	9	V>M		No	ClinGen TOPMed gnomAD
CA200657524 rs867708178	10	G>D		No	ClinGen Ensembl
rs1402615247 CA375251399	11	C>Y		No	ClinGen gnomAD
rs1367430242 CA375251408	12	K>T		No	ClinGen TOPMed gnomAD
rs1228311670 CA375251412	13	S>P		No	ClinGen TOPMed
CA375251448 rs1281390090	18	S>C		No	ClinGen TOPMed
rs866428555 CA200657532	19	S>*		No	ClinGen gnomAD
CA375251454 rs866428555	19	S>L		No	ClinGen gnomAD
CA375251460 rs1306763809	20	S>F		No	ClinGen gnomAD
CA375251487 rs1489845439	24	Y>C		No	ClinGen gnomAD
CA375256157 rs761750284	28	A>D		No	ClinGen TOPMed gnomAD
rs1412043510 CA375256151	28	A>T		No	ClinGen TOPMed
rs761750284 CA200673904	28	A>V		No	ClinGen TOPMed gnomAD
CA375256190 rs1166841293	30	Q>*		No	ClinGen gnomAD
rs1358531180 CA375256196	30	Q>H		No	ClinGen gnomAD
rs368476764 CA5285160	31	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5285159 rs202235231	31	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1165776027 CA375256264	34	A>V		No	ClinGen TOPMed
rs1423422276 CA375256309	36	D>N		No	ClinGen TOPMed
CA375256403 rs1462486613	39	P>L		No	ClinGen Ensembl
CA5285162 rs753958092	41	G>A		No	ClinGen ExAC gnomAD
CA156554 rs61741003 RCV000119952	43	S>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs201316784 CA200673924	44	E>K		No	ClinGen 1000Genomes
rs371791060 CA5285165	46	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1318764515 CA375256527	46	A>T		No	ClinGen TOPMed gnomAD
rs371791060 CA5285164	46	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs376529913 CA5285166	47	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs745518603 CA5285167	51	K>R		No	ClinGen ExAC
CA5285169 COSM1460510 COSM1105993 rs369393102	56	A>T	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs143047485 CA5285170	57	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5285171 rs768625856	58	P>S		No	ClinGen ExAC gnomAD
rs774292059 CA5285173	59	S>G		No	ClinGen ExAC gnomAD
rs774292059 CA5285172	59	S>R		No	ClinGen ExAC gnomAD
rs1342155042 CA375256978	64	N>S		No	ClinGen gnomAD
rs1439943549 CA375257017	65	L>V		No	ClinGen gnomAD
CA375257083 rs1230461533	67	V>D		No	ClinGen gnomAD
CA5285177 rs138924193	67	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776891302 CA5285178	70	Y>C		No	ClinGen ExAC gnomAD
CA375257281 rs1351411893	74	A>V		No	ClinGen TOPMed
CA5285179 rs759667064	79	T>A		No	ClinGen ExAC gnomAD
rs775695843 COSM115920 CA375257658	87	K>N	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5285200 rs764626784	89	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs375582718 CA5285199	89	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA5285202 rs373877460	90	V>I		No	ClinGen ESP ExAC gnomAD
rs1393019333 CA375257716	92	G>D		No	ClinGen TOPMed
CA375257731 rs1371038648	93	Y>*		No	ClinGen gnomAD
rs368589654 CA5285203	93	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1474327092 CA375257721	93	Y>H		No	ClinGen gnomAD
CA5285204 rs753490709	94	N>K		No	ClinGen ExAC gnomAD
RCV000119953 rs587778016 RCV001854592 CA156557	96	N>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1830947762 RCV001261794	98	E>*		No	ClinVar dbSNP
CA375257914 rs1588269180	106	N>K		No	ClinGen Ensembl
CA375257910 rs1365786309	106	N>S		No	ClinGen gnomAD
rs1588269183 CA375257989	112	P>Q		No	ClinGen Ensembl
CA375258034 rs1172072689	116	I>L		No	ClinGen gnomAD
CA375258035 rs1172072689	116	I>V		No	ClinGen gnomAD
rs1417226954 CA375258059	118	P>Q		No	ClinGen gnomAD
rs1418850490 CA375258072	119	V>G		No	ClinGen TOPMed
CA200674411 rs1042889963	123	E>Q		No	ClinGen gnomAD
rs775748939 CA5285215 COSM93842	137	A>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5285214 rs775748939	137	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1064152 CA200674461 VAR_051692	140	L>P		No	ClinGen UniProt Ensembl dbSNP
CA375258547 rs958337829	142	S>R		No	ClinGen TOPMed gnomAD
CA375258594 rs1314838108	144	G>R		No	ClinGen TOPMed
CA5285217 rs774952482	146	N>S		No	ClinGen ExAC gnomAD
CA375258805 rs1588269234	151	V>G		No	ClinGen Ensembl
CA200674505 rs146963680	153	E>Q		No	ClinGen ESP TOPMed gnomAD
rs767883505 CA5285219	154	S>G		No	ClinGen ExAC gnomAD
rs1064153 CA200674515	159	G>S		No	ClinGen Ensembl
rs1588269243 CA375259106	162	S>A		No	ClinGen Ensembl
rs759251749 CA5285221	163	I>V		No	ClinGen ExAC gnomAD
rs764838466 CA5285222	164	S>L		No	ClinGen ExAC gnomAD
rs757951694 CA5285224	168	E>K		No	ClinGen ExAC gnomAD
rs777111369 CA5285225	169	G>E		No	ClinGen ExAC gnomAD
CA375259340 rs1588269260	171	V>G		No	ClinGen Ensembl
rs1248403035 CA375259322	171	V>M		No	ClinGen gnomAD
rs1365550756 CA375259441	175	R>M		No	ClinGen TOPMed
rs143666455 CA5285229	182	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA375262249 rs1368132260	184	L>I		No	ClinGen gnomAD
rs756003964 COSM1106001 CA5285247	186	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs79052735 CA200680389	187	S>P		No	ClinGen Ensembl
CA375262308 rs1174294624	189	E>K		No	ClinGen TOPMed gnomAD
CA5285249 rs368646202	191	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5285250 rs755144370	191	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5285251 rs779117534	193	N>H		No	ClinGen ExAC gnomAD
CA375262375 rs1482700990	193	N>K		No	ClinGen gnomAD
CA5285252 rs556586112	193	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA375262377 rs1588272569	194	T>P		No	ClinGen Ensembl
rs1254080076 CA375262387	195	L>V		No	ClinGen gnomAD
CA5285253 rs772617122	196	A>P		No	ClinGen ExAC gnomAD
CA5285257 rs776806158	197	E>G		No	ClinGen ExAC TOPMed gnomAD
rs150134901 CA5285256	197	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5285258 rs538889953	198	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375262437 rs1367135710	199	V>I		No	ClinGen TOPMed
CA375262481 rs1184384977	203	S>L		No	ClinGen TOPMed
CA375262484 rs1308052764	204	T>A		No	ClinGen TOPMed gnomAD
CA5285261 rs370646520	204	T>M		No	ClinGen ExAC gnomAD
rs1292627593 CA375262494	206	A>T		No	ClinGen gnomAD
CA375262598 rs1229072821	215	Y>F		No	ClinGen TOPMed gnomAD
CA5285266 rs753573200	220	R>C		No	ClinGen ExAC gnomAD
rs56271006 CA5285267	220	R>L		No	ClinGen ExAC gnomAD
CA375262784 rs1564315523	227	G>D		No	ClinGen Ensembl
CA375262839 rs1368288944	231	N>D		No	ClinGen TOPMed gnomAD
CA5285269 rs572239604	231	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1394653602 CA375262874	233	D>N		No	ClinGen TOPMed
CA5285270 rs376578298	237	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1391451714 CA375263027	239	R>H		No	ClinGen gnomAD
CA375263051 rs1235886447	240	T>M		No	ClinGen TOPMed gnomAD
rs1158735330 CA375263116	243	T>S		No	ClinGen TOPMed
rs1163489434 CA375263184	246	H>D		No	ClinGen gnomAD
RCV000119954 VAR_051693 rs34549764 CA156560	247	K>R		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA375263241 rs1216325712	250	G>R		No	ClinGen Ensembl
rs770143843 CA5285275	256	V>A		No	ClinGen ExAC gnomAD
rs144579827 CA5285277	258	E>K		No	ClinGen ESP ExAC gnomAD
CA5285279 rs772834697	260	V>M		No	ClinGen ExAC gnomAD
rs760763041 CA5285280	265	S>G		No	ClinGen ExAC gnomAD
rs1286639734 CA375263484	267	T>A		No	ClinGen TOPMed
CA375263487 COSM1645274 rs1191034511 COSM1645272	267	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA156563 rs587778017 RCV000119955	270	V>L		No	ClinGen ClinVar ExAC dbSNP
rs587778017 CA5285285	270	V>M		No	ClinGen ExAC
CA375263516 rs1588272734	272	T>N		No	ClinGen Ensembl
rs121913447 COSM12602 COSM1460522 CA200645023	276	D>G	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1221732853 COSM1460524 CA375249165 COSM1460523	279	E>G	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA375249163 rs1230482759	279	E>Q		No	ClinGen gnomAD
CA5285310 rs781265849	288	A>T		No	ClinGen ExAC gnomAD
rs868244435 CA200645031	296	P>S		No	ClinGen Ensembl
rs750907802 CA5285311	297	N>S		No	ClinGen ExAC gnomAD
CA375249350 rs1588276822	304	V>G		No	ClinGen Ensembl
rs767746890 CA5285347	304	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5285349 rs760861323	307	R>Q		No	ClinGen ExAC gnomAD
rs773215910 CA5285348	307	R>W		No	ClinGen ExAC gnomAD
RCV001264647 rs1831276610	310	P>L		No	ClinVar dbSNP
CA375249399 rs1248519602	312	Y>C		No	ClinGen gnomAD
CA5285352 rs146342596	320	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1167422184 CA375249461	322	N>D		No	ClinGen gnomAD
CA5285353 rs560587976	322	N>K		No	ClinGen 1000Genomes ExAC
CA5285354 rs753103329	329	E>D		No	ClinGen ExAC gnomAD
CA5285355 rs139597295	331	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs144448357 CA5285358	331	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5285356 rs144448357	331	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs144448357 CA5285357	331	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs560686582 CA5285360	332	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1176546 CA5285359 rs779478267	332	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1245032731 CA375249542	334	E>D		No	ClinGen gnomAD
rs768576631 CA5285361	334	E>V		No	ClinGen ExAC gnomAD
CA375249548 rs1588276903	335	V>G		No	ClinGen Ensembl
CA5285366 rs760914163	343	M>V		No	ClinGen ExAC gnomAD
rs776841951 COSM1569399 COSM1569400 CA5285368	351	M>V	liver large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1362587735 CA375249664	353	Y>S		No	ClinGen TOPMed gnomAD
rs371489484 CA5285369	356	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5285392 rs551919699	364	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA5285393 rs375188687	373	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1368236620 COSM1460534 CA375249838 COSM1460533	377	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5285396 rs754547923	383	G>A		No	ClinGen ExAC gnomAD
CA5285399 rs758255745	392	T>I		No	ClinGen ExAC gnomAD
rs1005779892 CA200646595	405	W>R		No	ClinGen TOPMed
rs897182973 CA200646601	414	N>I		No	ClinGen TOPMed
CA200646607 rs867460090	422	V>I		No	ClinGen TOPMed
CA5285404 rs746006558	424	A>S		No	ClinGen ExAC gnomAD
rs901384073 CA200648564	431	E>K		No	ClinGen Ensembl
rs866526771 CA200648566	434	T>N		No	ClinGen TOPMed
CA375251071 rs1387736425	437	M>I		No	ClinGen gnomAD
CA5285418 rs758403690	438	S>T		No	ClinGen ExAC gnomAD
COSM308520 rs764105054 CA5285419	441	P>L	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA200648581 rs1047066787	443	I>T		No	ClinGen Ensembl
rs1294077622 CA375251131	447	Q>K		No	ClinGen gnomAD
COSM3675254 COSM3675252 CA375251147 rs1207142576	449	Y>C	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
CA375251173 rs1160660119	453	E>G		No	ClinGen gnomAD
CA200648594 rs1005615943	454	K>N		No	ClinGen Ensembl
rs781072200 CA5285422	456	Y>C		No	ClinGen ExAC gnomAD
rs1064156 COSM12634 CA200648598	459	E>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs746156716 CA5285423	460	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5285424 rs149852028	460	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs749303459 CA5285426	466	E>Q		No	ClinGen ExAC gnomAD
CA156566 rs377657490 RCV000119956	473	R>G		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA156569 rs62638716 RCV000119957	473	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA375251543 rs1470360134	478	W>R		No	ClinGen gnomAD
rs780160146 CA5285445	480	P>L		No	ClinGen ExAC gnomAD
CA5285447 rs755056071	482	D>H		No	ClinGen ExAC gnomAD
rs1355584861 CA375251578	483	R>W		No	ClinGen TOPMed
rs1377422866 CA375251590	485	S>T		No	ClinGen gnomAD
rs1408198390 CA375251595	486	F>L		No	ClinGen gnomAD
rs541225290 CA5285448	488	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA375251622 rs1336603476	490	H>Y		No	ClinGen gnomAD
CA375251639 rs1444767486	492	A>T		No	ClinGen gnomAD
CA200649387 rs62580066	496	M>I		No	ClinGen Ensembl
CA375251707 rs1182652234	501	S>N		No	ClinGen Ensembl
CA5285479 rs773026233	513	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA375251813 rs1476512998	514	G>D		No	ClinGen gnomAD
rs776483252 CA5285482	515	V>A		No	ClinGen ExAC gnomAD
rs766145624 CA5285481	515	V>I		No	ClinGen ExAC TOPMed gnomAD
rs759795929 CA5285483	516	R>C		No	ClinGen ExAC gnomAD
COSM1106017 rs765425928 CA5285484 COSM1598075	516	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs752870729 CA5285485	517	G>E		No	ClinGen ExAC
rs1435082956 CA375251831	518	A>S		No	ClinGen gnomAD
CA5285486 rs772685626	519	V>M		No	ClinGen ExAC gnomAD
rs1064157 CA375251843	520	S>N		No	ClinGen Ensembl
rs1064157 CA200649661	520	S>T		No	ClinGen Ensembl
rs1056698383 CA200649664	521	T>P		No	ClinGen TOPMed
CA200649671 rs969148028	527	E>G		No	ClinGen Ensembl
rs752060211 CA375251918	532	T>K		No	ClinGen ExAC gnomAD
CA5285488 rs752060211	532	T>M		No	ClinGen ExAC gnomAD
rs752060211 CA200649677	532	T>R		No	ClinGen ExAC gnomAD
rs764172796 CA5285487	532	T>S		No	ClinGen ExAC gnomAD
CA375251958 rs1463481185	539	A>T		No	ClinGen TOPMed gnomAD
rs781447697 CA5285490	540	E>D		No	ClinGen ExAC TOPMed gnomAD
CA375251970 rs781447697	540	E>D		No	ClinGen ExAC TOPMed gnomAD
CA375251977 rs1448757818	541	H>Q		No	ClinGen TOPMed gnomAD
CA200649685 rs954526976	541	H>R		No	ClinGen Ensembl
CA375251973 rs1262485465	541	H>Y		No	ClinGen gnomAD
rs143152951 CA5285491	542	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1371047419 CA375251983	542	R>S		No	ClinGen TOPMed
rs756495853 CA5285492	543	D>H		No	ClinGen ExAC gnomAD
rs778738079 CA5285493	544	T>N		No	ClinGen ExAC gnomAD
CA375251994 rs778738079	544	T>S		No	ClinGen ExAC gnomAD
CA375252005 rs1588281120	546	D>A		No	ClinGen Ensembl
CA5285495 rs574660646	547	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs907710981 CA200649707	548	P>T		No	ClinGen TOPMed
rs1271393830 CA375252029	550	M>V		No	ClinGen TOPMed gnomAD
rs1439893264 CA375252056	553	S>F		No	ClinGen gnomAD
CA5285498 rs770871679	556	Q>R		No	ClinGen ExAC gnomAD
rs79963149 CA5285500	558	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1228370771 CA375252230	560	D>G		No	ClinGen TOPMed gnomAD
rs148373182 CA5285502	560	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375252250 rs1588282759	561	P>L		No	ClinGen Ensembl
rs1178088676 CA375252240	561	P>S		No	ClinGen gnomAD
rs1193627204 CA375252275	563	D>A		No	ClinGen gnomAD
CA5285534 rs756799646	565	E>D		No	ClinGen ExAC gnomAD
CA5285533 rs751135223	565	E>G		No	ClinGen ExAC gnomAD
CA5285532 rs777506007	565	E>K		No	ClinGen ExAC gnomAD
CA5285535 rs780626314	566	P>A		No	ClinGen ExAC TOPMed gnomAD
rs780626314 CA375252325	566	P>S		No	ClinGen ExAC TOPMed gnomAD
rs780626314 CA375252322	566	P>T		No	ClinGen ExAC TOPMed gnomAD
rs982716836 CA200651407	567	A>V		No	ClinGen Ensembl
rs141983052 CA5285537	568	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA375252419 rs1194832601	573	P>L		No	ClinGen TOPMed
rs779869434 CA5285538	574	R>Q		No	ClinGen ExAC gnomAD
rs1454190487 CA375252451	576	E>Q		No	ClinGen TOPMed
COSM268553 CA375252471 rs1371645607	577	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs749127690 CA5285539	577	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA375252488 rs1307111961	578	G>D		No	ClinGen gnomAD
CA375252486 rs1270998268	578	G>S		No	ClinGen gnomAD
rs587778013 RCV000119940 CA156518	579	P>L		No	ClinGen ClinVar Ensembl dbSNP
rs768293602 CA5285540	579	P>S		No	ClinGen ExAC TOPMed gnomAD
rs774635743 CA5285541	580	P>L		No	ClinGen ExAC TOPMed gnomAD
rs774635743 CA5285542	580	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA375252526 rs1467808878	581	E>G		No	ClinGen TOPMed gnomAD
rs1416824935 CA375252562	583	G>D		No	ClinGen TOPMed gnomAD
rs373147618 CA5285546	583	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1427552095 CA375252573	584	L>P		No	ClinGen gnomAD
COSM1106019 rs754252285 CA5285547	589	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
RCV002055323 rs376925416 RCV000119948 CA156542	589	R>H		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs376925416 CA375252660	589	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs765456184 CA5285548	593	K>T		No	ClinGen ExAC gnomAD
CA375252742 rs1360585400	595	K>E		No	ClinGen TOPMed
rs1468514315 CA375252751	595	K>R		No	ClinGen gnomAD
rs1191796984 CA375252761	596	K>E		No	ClinGen TOPMed gnomAD
CA375252768 rs1395063393	596	K>R		No	ClinGen gnomAD
rs146300726 CA5285549	597	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA200651467 rs557678853	597	T>I		No	ClinGen Ensembl
CA5285551 rs780716188	601	S>R		No	ClinGen ExAC gnomAD
rs755568851 CA5285553	602	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1297917726 CA375253920	604	I>T		No	ClinGen gnomAD
CA5285556 rs779995911	605	K>E		No	ClinGen ExAC
CA200651495 rs749110430	609	K>R		No	ClinGen ExAC TOPMed
CA5285557 rs749110430	609	K>T		No	ClinGen ExAC TOPMed
rs1261056896 CA375253961	610	T>A		No	ClinGen TOPMed
rs182819573 CA5285558	610	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA375253977 rs1588282865	613	T>P		No	ClinGen Ensembl
COSM291506 CA200651513 rs893818280	616	K>R	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs773475680 CA5285562	617	R>C		No	ClinGen ExAC TOPMed gnomAD
rs139645650 CA5285564	618	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5285567 rs765678976	622	R>Q		No	ClinGen ExAC gnomAD
rs759909014 CA5285566	622	R>W		No	ClinGen ExAC gnomAD
CA375254045 rs34717358	623	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375254059 rs1588282888	625	D>A		No	ClinGen Ensembl
CA375254066 rs1253014415 RCV000788502	626	G>D		No	ClinGen ClinVar TOPMed dbSNP
CA5285570 rs767173632	626	G>S		No	ClinGen ExAC TOPMed gnomAD
rs144260734 CA200651557	627	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs755654666 CA5285572	628	P>L		No	ClinGen ExAC gnomAD
CA5285575 rs374307625	630	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5285576 rs148775794	630	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5285574 rs374307625	630	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs747942583 CA5285577	631	R>S		No	ClinGen ExAC gnomAD
rs1355668042 CA375254100	632	G>R		No	ClinGen TOPMed
rs1284103223 CA375254135	634	G>D		No	ClinGen gnomAD
rs200206549 CA5285579	634	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5285581 rs771154274	635	E>K		No	ClinGen ExAC TOPMed gnomAD
CA375254155 rs1264763396	636	E>K		No	ClinGen gnomAD
CA5285582 rs151335502	638	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA375254205 rs1476030646	639	R>Q		No	ClinGen gnomAD
rs746422557 CA5285583	643	N>H		No	ClinGen ExAC gnomAD
CA375254268 rs140170768	643	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5285584 rs376339000	643	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5285587 rs763315791	644	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5285586 rs763315791	644	G>R		No	ClinGen ExAC TOPMed gnomAD
rs772876615 CA5285588	645	A>S		No	ClinGen ExAC gnomAD
rs772876615 CA375254286	645	A>T		No	ClinGen ExAC gnomAD
rs199694985 CA5285591	647	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760300150 CA5285589	647	A>T		No	ClinGen ExAC TOPMed gnomAD
rs199694985 CA5285590	647	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375254333 rs1588282946	649	T>P		No	ClinGen Ensembl
rs755000604 CA5285592	650	P>T		No	ClinGen ExAC gnomAD
rs958613341 CA200651616	651	L>W		No	ClinGen gnomAD
rs575671147 CA200651620	653	T>A		No	ClinGen 1000Genomes TOPMed
rs1231116230 CA375254402	653	T>I		No	ClinGen TOPMed gnomAD
rs758297942 CA375254411	654	A>D		No	ClinGen ExAC gnomAD
rs758297942 CA5285595	654	A>G		No	ClinGen ExAC gnomAD
rs777659795 CA5285596	655	D>A		No	ClinGen ExAC gnomAD
CA375254446 rs1345188229	656	P>S		No	ClinGen gnomAD
CA200651629 rs920601940	658	K>N		No	ClinGen TOPMed
rs1292296606 CA375254518	659	S>C		No	ClinGen TOPMed
rs751875847 CA5285597	660	P>L		No	ClinGen ExAC gnomAD
rs1280512306 CA375254539	661	K>E		No	ClinGen gnomAD
CA5285598 rs757386343	662	P>A		No	ClinGen ExAC gnomAD
rs781395627 CA5285599 COSM98810	662	P>L	stomach [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1470470753 CA375254583	663	S>G		No	ClinGen gnomAD
CA5285601 rs145076561	664	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs749748926 CA5285603	665	G>W		No	ClinGen ExAC gnomAD
CA375254673 rs1339099188	667	G>E		No	ClinGen TOPMed
rs1377452172 CA375254681	668	V>F		No	ClinGen gnomAD
CA375254697 rs1408480123	669	P>S		No	ClinGen gnomAD
CA156512 RCV000119938 RCV002055320 rs61746126	670	N>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA375254744 rs760387947	671	G>E		No	ClinGen ExAC TOPMed gnomAD
CA5285605 rs760387947	671	G>V		No	ClinGen ExAC TOPMed gnomAD
CA375254763 rs1301800988	672	A>V		No	ClinGen gnomAD
rs770476733 CA5285606	673	L>F		No	ClinGen ExAC gnomAD
rs1232870532 CA375254779	673	L>H		No	ClinGen gnomAD
rs971577563 CA200651671	674	R>Q		No	ClinGen TOPMed gnomAD
rs776289598 CA5285607	674	R>W		No	ClinGen ExAC TOPMed gnomAD
CA200651675 rs977173456	676	S>F		No	ClinGen gnomAD
rs564161762 CA5285609	677	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs564161762 CA375254817	677	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5285610 rs752701660	678	G>D		No	ClinGen ExAC TOPMed gnomAD
CA5285611 rs201278085	679	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1194312804 CA375254845	679	S>L		No	ClinGen gnomAD
CA5285613 rs201278085	679	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5285612 rs201278085	679	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5285614 rs757022759	680	G>S		No	ClinGen ExAC TOPMed gnomAD
rs772400589 CA5285616	682	R>Q		No	ClinGen ExAC gnomAD
rs942920782 CA200651698	682	R>W		No	ClinGen TOPMed gnomAD
rs1324331361 CA375254903	684	P>L		No	ClinGen TOPMed gnomAD
CA375254917 rs1442339978	685	H>R		No	ClinGen gnomAD
rs1325995313 CA375254939	687	W>*		No	ClinGen gnomAD
CA375254995 rs1588283040	691	S>I		No	ClinGen Ensembl
rs1332380683 CA375255011	692	T>M		No	ClinGen TOPMed gnomAD
rs1332380683 CA375255009	692	T>R		No	ClinGen TOPMed gnomAD
rs1281690568 CA375255002	692	T>S		No	ClinGen TOPMed
CA5285618 rs780087502	694	T>A		No	ClinGen ExAC gnomAD
CA375255031 rs1307730338	694	T>N		No	ClinGen TOPMed
CA5285620 rs769147225	697	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5285622 rs748475317	697	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5285621 rs769147225	697	R>S		No	ClinGen ExAC TOPMed gnomAD
rs560008320 CA5285625	700	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375255114 rs1192565382	700	T>I		No	ClinGen gnomAD
CA375255121 rs775106685	701	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5285627 rs775106685	701	G>S		No	ClinGen ExAC TOPMed gnomAD
rs764106779 CA5285629	702	E>K		No	ClinGen ExAC gnomAD
CA200651757 rs200897981	704	E>V		No	ClinGen 1000Genomes
rs1462418303 CA375255159	705	G>S		No	ClinGen gnomAD
RCV000119949 rs143837301 CA156545	706	G>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000897438 rs34634745 CA5285631 VAR_025043	706	G>V		No	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA375255169 rs1204128531	707	G>S		No	ClinGen TOPMed
CA5285633 rs756330681	711	K>Q		No	ClinGen ExAC gnomAD
rs1312773585 CA375255216	712	R>C		No	ClinGen TOPMed gnomAD
COSM204224 rs766513552 CA5285635	712	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs766513552 CA5285634	712	R>L		No	ClinGen ExAC gnomAD
rs754994658 CA5285636	713	F>L		No	ClinGen ExAC gnomAD
RCV001854591 RCV000119941 rs587778014 CA156521	715	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA200651811 rs571264328	715	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
CA5285640 rs145494071	719	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5285639 rs145494071	719	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1064158 CA200651823	719	A>V		No	ClinGen Ensembl
rs1399578496 CA375255316	721	C>R		No	ClinGen TOPMed
rs372281632 CA375255331	722	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs372281632 CA5285642	722	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5285643 rs748815435	723	P>L		No	ClinGen ExAC gnomAD
CA375255343 rs1258494852	723	P>S		No	ClinGen gnomAD
rs1435318617 CA375255354	724	H>P		No	ClinGen TOPMed
CA375255352 rs1475703235	724	H>Y		No	ClinGen gnomAD
rs1167392327 CA375255383	726	A>V		No	ClinGen gnomAD
rs1352185476 CA375255389	727	K>E		No	ClinGen gnomAD
CA375255400 rs1362518592	728	D>N		No	ClinGen gnomAD
rs768245401 CA5285644	729	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1421125861 CA375255438	730	E>D		No	ClinGen gnomAD
rs989679808 CA200651843	734	V>F		No	ClinGen Ensembl
CA375255516 rs1310633113	735	T>M		No	ClinGen gnomAD
CA5285650 rs761082559	738	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs138167706 CA5285649	738	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs141101699 CA200651856	739	D>N		No	ClinGen ESP gnomAD
rs753991885 CA5285651	741	Q>E		No	ClinGen ExAC gnomAD
CA5285652 rs755080856	742	S>C		No	ClinGen ExAC gnomAD
rs369171735 CA5285653	743	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375255635 rs1248912737	745	R>G		No	ClinGen gnomAD
CA200651866 rs975664530	746	Q>R		No	ClinGen TOPMed gnomAD
rs144838952 CA5285655	747	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs769804079 CA200651871	748	D>H		No	ClinGen Ensembl
CA5285656 rs778064276	749	S>L		No	ClinGen ExAC TOPMed gnomAD
CA5285658 rs757633849	751	T>I		No	ClinGen ExAC TOPMed gnomAD
CA375255745 rs1340271661	753	G>V		No	ClinGen Ensembl
rs1047504263 CA375255775	755	H>Q		No	ClinGen Ensembl
rs564994914 CA5285660	760	P>L		No	ClinGen ExAC gnomAD
CA375255878 rs1394145426	763	P>S		No	ClinGen gnomAD
rs773883545 CA5285662	764	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5285664 rs575721187	764	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773883545 CA5285663	764	R>W		No	ClinGen ExAC TOPMed gnomAD
CA5285666 rs376567477	767	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA375255929 rs376567477	767	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs776859761 CA5285668	768	G>A		No	ClinGen ExAC gnomAD
CA375255965 rs1212594641	770	N>S		No	ClinGen gnomAD
rs894289172 CA200651905	771	R>G		No	ClinGen Ensembl
rs141824678 CA200651908	771	R>S		No	ClinGen ESP TOPMed gnomAD
rs759729920 CA5285669	772	S>C		No	ClinGen ExAC TOPMed gnomAD
CA5285670 rs765339927	774	Q>E		No	ClinGen ExAC gnomAD
CA375255990 rs1240528199	774	Q>R		No	ClinGen gnomAD
rs187868905 CA5285671	775	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs187868905 CA375255994	775	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5285673 rs764672465	777	R>Q		No	ClinGen ExAC gnomAD
rs757723516 CA5285675	778	G>D		No	ClinGen ExAC TOPMed gnomAD
rs751974335 CA5285674	778	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1269440374 CA375256023	780	V>A		No	ClinGen Ensembl
rs753588128 CA5285677	781	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1438675594 CA375256031	782	P>A		No	ClinGen gnomAD
CA5285678 rs754674216	782	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1221027936 CA375256040	783	P>L		No	ClinGen gnomAD
CA375256037 rs1301987634	783	P>S		No	ClinGen TOPMed gnomAD
CA156524 rs201376463 RCV000119942	784	P>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1355021408 CA375256044	784	P>R		No	ClinGen TOPMed
rs777796369 CA5285681	785	R>M		No	ClinGen ExAC gnomAD
rs998569203 CA200651940	785	R>S		No	ClinGen Ensembl
rs770760322 CA5285683	787	V>L		No	ClinGen ExAC TOPMed gnomAD
rs770760322 CA375256056	787	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1165226306 CA375256066	788	K>R		No	ClinGen TOPMed
rs1213691129 CA375256072	789	K>T		No	ClinGen gnomAD
CA375256078 rs1254195561	790	N>D		No	ClinGen gnomAD
CA200651952 rs916660388	793	A>V		No	ClinGen TOPMed
CA375256108 rs1427608970	794	A>T		No	ClinGen gnomAD
rs1164057801 CA375256135	797	V>A		No	ClinGen gnomAD
rs1164057801 CA375256137	797	V>G		No	ClinGen gnomAD
CA375256129 rs1459798133	797	V>I		No	ClinGen gnomAD
rs979241450 CA200651959	798	F>L		No	ClinGen TOPMed
CA200651961 rs925085051	799	K>E		No	ClinGen TOPMed
rs1438654125 CA375256160	799	K>R		No	ClinGen gnomAD
rs1321322843 CA375256171	800	D>G		No	ClinGen TOPMed
rs1287213531 CA375256169	800	D>H		No	ClinGen gnomAD
rs752165769 CA5285690	801	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1333220253 CA375256261	804	S>C		No	ClinGen gnomAD
rs1588283368 CA375256269	805	S>G		No	ClinGen Ensembl
CA200651971 rs935275253	805	S>N		No	ClinGen TOPMed
COSM48219 rs147510280 CA5285693	806	P>L	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs147510280 CA5285692	806	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA156527 RCV000119943 rs149412304	806	P>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA375256290 rs1193093485	807	G>D		No	ClinGen TOPMed gnomAD
rs376258688 CA5285695	807	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1239903000 CA375256320	809	S>G		No	ClinGen gnomAD
rs1485338353 CA375256337	809	S>R		No	ClinGen gnomAD
rs2229071 VAR_032678 RCV000119944 CA156530	810	P>L		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA375256359 rs1474063941	811	P>S		No	ClinGen gnomAD
CA5285697 rs370989546	812	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA375256372 rs1186996487	812	N>S		No	ClinGen TOPMed gnomAD
CA375256369 rs1186996487	812	N>T		No	ClinGen TOPMed gnomAD
CA375256460 rs1588283398	816	K>N		No	ClinGen Ensembl
rs1156969180 CA375256484	817	P>L		No	ClinGen gnomAD
rs1420520045 CA375256498	818	L>F		No	ClinGen gnomAD
rs771667120 CA375256528	819	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5285700 rs771667120	819	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5285699 rs373527910	819	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs769405342 CA5285702	820	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs745673380 CA5285701	820	R>W		No	ClinGen ExAC TOPMed gnomAD
CA5285703 rs775807372	821	Q>R		No	ClinGen ExAC gnomAD
CA375256597 rs1588283419	823	T>P		No	ClinGen Ensembl
CA375256614 COSM137978 rs1434614484	823	T>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs376162814 CA375256616	824	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376162814 CA5285705	824	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375256633 rs1352264172	825	A>V		No	ClinGen gnomAD
CA375256649 rs1484498582	826	P>L		No	ClinGen gnomAD
rs140320313 CA5285706	826	P>S		No	ClinGen ESP ExAC gnomAD
rs1588283436 CA375256659	827	A>S		No	ClinGen Ensembl
CA5285707 rs762470102	828	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1237878988 CA375256700	829	G>D		No	ClinGen TOPMed gnomAD
rs1237878988 CA375256698	829	G>V		No	ClinGen TOPMed gnomAD
rs1473732050 CA375256708	830	L>F		No	ClinGen gnomAD
rs1588283445 CA375256720	830	L>P		No	ClinGen Ensembl
CA5285708 rs768153649	831	P>L		No	ClinGen ExAC gnomAD
CA5285709 rs377450717	832	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs377450717 CA156533 RCV000119945 RCV002055321	832	H>N		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs377450717 CA375256746	832	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs766603530 CA5285710	833	K>R		No	ClinGen ExAC gnomAD
rs1015590720 CA200652019	834	E>A		No	ClinGen TOPMed
rs752442947 CA5285711	835	E>A		No	ClinGen ExAC TOPMed gnomAD
CA375256846 rs1397422606	836	A>G		No	ClinGen TOPMed
rs1564324112 CA375256902	838	K>E		No	ClinGen Ensembl
rs757954939 CA5285712	839	G>R		No	ClinGen ExAC gnomAD
CA200652029 rs1038387407	840	S>G		No	ClinGen gnomAD
rs763658540 CA5285713	840	S>N		No	ClinGen ExAC gnomAD
CA5285715 rs756695651	842	L>S		No	ClinGen ExAC gnomAD
rs11793737 CA5285716	843	G>R		No	ClinGen ExAC gnomAD
rs11793737 CA200652041	843	G>W		No	ClinGen ExAC gnomAD
CA375257126 rs1432681841	844	T>N		No	ClinGen TOPMed
CA375257101 rs1588283480	844	T>P		No	ClinGen Ensembl
rs745761263 CA5285717	845	P>H		No	ClinGen ExAC gnomAD
rs1310878283 CA375257190	847	A>V		No	ClinGen gnomAD
CA375257196 rs1345249835	848	A>T		No	ClinGen gnomAD
CA5285718 rs755990618	850	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779686920 CA5285719	851	V>M		No	ClinGen ExAC TOPMed gnomAD
rs34272860 CA5285720	852	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA375257313 rs34272860	852	T>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1588283506 CA375257302 VAR_025044	852	T>P		No	ClinGen UniProt Ensembl dbSNP
rs1237445561 CA375257327	853	P>A		No	ClinGen gnomAD
CA375257353 rs1180557682	854	T>I		No	ClinGen gnomAD
CA375257340 rs768751299	854	T>P		No	ClinGen ExAC TOPMed gnomAD
CA5285721 rs768751299	854	T>S		No	ClinGen ExAC TOPMed gnomAD
rs774659092 CA5285722	855	S>C		No	ClinGen ExAC TOPMed gnomAD
CA375257424 rs1173321055	858	G>D		No	ClinGen TOPMed gnomAD
CA375257421 rs1453982773	858	G>R		No	ClinGen TOPMed gnomAD
CA375257415 rs1453982773	858	G>S		No	ClinGen TOPMed gnomAD
rs948540187 CA200652067	859	S>L		No	ClinGen Ensembl
rs1427535682 CA375257475	860	G>D		No	ClinGen gnomAD
rs1427535682 CA375257478	860	G>V		No	ClinGen gnomAD
rs199613441 RCV000119950 CA156548	861	A>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA5285723 rs772239435	862	P>S		No	ClinGen ExAC gnomAD
CA200652074 rs1064159	863	G>R		No	ClinGen gnomAD
CA200652079 rs925148201	866	S>G		No	ClinGen TOPMed gnomAD
CA5285725 rs761063630	867	K>E		No	ClinGen ExAC gnomAD
rs776853859 CA5285727	867	K>N		No	ClinGen ExAC gnomAD
rs766806729 CA5285726	867	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5285728 rs551509763	869	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375257631 rs763746423	870	A>P		No	ClinGen ExAC gnomAD
CA5285729 rs763746423	870	A>T		No	ClinGen ExAC gnomAD
CA5285731 rs756787093	871	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1251077295 CA375257669	872	E>D		No	ClinGen TOPMed gnomAD
CA200652098 rs1052791280	872	E>K		No	ClinGen Ensembl
rs1451042939 CA375257682	874	R>G		No	ClinGen gnomAD
CA156515 RCV000119939 RCV001854590 rs587778012	876	R>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs587778012 CA5285732	876	R>W		No	ClinGen ExAC TOPMed gnomAD
CA5285733 rs756003549	877	R>K		No	ClinGen ExAC gnomAD
rs1474577147 CA375257763	880	H>D		No	ClinGen TOPMed gnomAD
CA375257760 rs1474577147	880	H>Y		No	ClinGen TOPMed gnomAD
CA375257781 rs1424868687	881	S>A		No	ClinGen gnomAD
rs779960236 CA5285735	881	S>F		No	ClinGen ExAC gnomAD
CA5285737 rs754737701	884	S>L		No	ClinGen ExAC gnomAD
rs1011340121 CA200652119	886	G>E		No	ClinGen gnomAD
rs1277318518 CA375257903	890	G>R		No	ClinGen gnomAD
CA200652133 rs1064160	894	R>K		No	ClinGen TOPMed gnomAD
rs1210484348 CA375257976	895	L>F		No	ClinGen TOPMed gnomAD
rs895070415 CA200652135	896	K>N		No	ClinGen Ensembl
rs1292166160 CA375257991	896	K>T		No	ClinGen gnomAD
CA5285742 rs747618171 COSM1106023	897	P>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs747618171 CA375258008	897	P>R		No	ClinGen ExAC TOPMed gnomAD
rs773393725 CA5285741	897	P>S		No	ClinGen ExAC gnomAD
rs777134913 CA5285744	899	P>L		No	ClinGen ExAC TOPMed gnomAD
rs767171554 CA5285743	899	P>S		No	ClinGen ExAC TOPMed gnomAD
rs770102005 CA5285746	900	P>L		No	ClinGen ExAC TOPMed gnomAD
VAR_025045 rs35266696 CA200652149	900	P>S		No	ClinGen UniProt TOPMed dbSNP gnomAD
rs761427686 CA375258051	901	P>A		No	ClinGen ExAC TOPMed
CA5285748 rs761427686	901	P>S		No	ClinGen ExAC TOPMed
CA375258075 rs1340778123	903	P>S		No	ClinGen gnomAD
CA375258106 rs1291259680	905	A>G		No	ClinGen gnomAD
CA5285751 rs760177951	905	A>S		No	ClinGen ExAC TOPMed gnomAD
rs760177951 CA375258099	905	A>T		No	ClinGen ExAC TOPMed gnomAD
CA375258114 rs1373983890	906	S>A		No	ClinGen TOPMed gnomAD
rs1564324335 CA375258116	906	S>C		No	ClinGen Ensembl
rs1373983890 CA375258112	906	S>P		No	ClinGen TOPMed gnomAD
rs1465864231 CA375258139	908	G>E		No	ClinGen gnomAD
rs766233109 CA5285752	910	A>V		No	ClinGen ExAC gnomAD
rs1168825454 CA375258193	912	G>E		No	ClinGen TOPMed
rs756505258 CA200652172	913	K>E		No	ClinGen Ensembl
rs375599661 CA5285754	914	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5285753 rs753769452	914	P>S		No	ClinGen ExAC TOPMed gnomAD
rs368347512 CA5285755	915	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5285757 rs758687667	916	Q>K		No	ClinGen ExAC gnomAD
rs948806101 CA200652206	916	Q>R		No	ClinGen TOPMed gnomAD
rs777966830 CA5285758	917	S>R		No	ClinGen ExAC gnomAD
CA5285759 COSM1460558 rs372727500 COSM166427	918	P>L	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs372727500 CA375258324	918	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA375258328 rs372727500	918	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs781576625 CA5285761	920	Q>R		No	ClinGen ExAC gnomAD
CA375258401 rs1421180473	921	E>G		No	ClinGen gnomAD
rs1360739424 CA375258395	921	E>K		No	ClinGen gnomAD
COSM1181442 CA5285762 rs746334503	922	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA375258471 rs1336015144	923	A>G		No	ClinGen TOPMed gnomAD
rs771729224 CA5285767	924	G>R		No	ClinGen ExAC TOPMed gnomAD
rs771729224 CA5285766	924	G>W		No	ClinGen ExAC TOPMed gnomAD
rs760134245 CA5285768	925	E>K		No	ClinGen ExAC gnomAD
rs947077282 CA200652261	929	G>R		No	ClinGen TOPMed
CA375258706 rs1248977210	930	A>E		No	ClinGen gnomAD
CA200652271 rs758209901	930	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5285774 rs758209901	930	A>T		No	ClinGen ExAC TOPMed gnomAD
CA375258711 rs1248977210	930	A>V		No	ClinGen gnomAD
rs1457750494 CA375258727	931	K>E		No	ClinGen gnomAD
rs777859034 CA5285775	933	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1230752004 CA375258834	935	T>A		No	ClinGen Ensembl
CA5285776 rs143811852	935	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5285778 rs781307647	936	S>G		No	ClinGen ExAC gnomAD
rs376821640 CA5285779	936	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs770275661 CA5285780	937	L>P		No	ClinGen ExAC TOPMed gnomAD
CA5285781 rs770275661	937	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA375258909 rs1588283755	937	L>V		No	ClinGen Ensembl
CA5285785 rs746653377	938	V>A		No	ClinGen ExAC gnomAD
CA5285784 rs772762636	938	V>L		No	ClinGen ExAC gnomAD
CA375260004 rs1379135094	939	D>N		No	ClinGen gnomAD
rs1385165992 CA375260016	940	A>G		No	ClinGen gnomAD
rs770388931 CA5285786	941	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1207642050 CA375260036	943	S>I		No	ClinGen TOPMed
CA375260046 rs151176526	944	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778851184 CA375260048	945	A>S		No	ClinGen ExAC TOPMed gnomAD
rs778851184 CA5285789	945	A>T		No	ClinGen ExAC TOPMed gnomAD
CA375260085 rs1240583398	948	P>L		No	ClinGen gnomAD
CA5285790 rs368684468	948	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs371656033 CA5285791	951	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA200652325 rs1064163	952	G>A		No	ClinGen Ensembl
CA5285794 rs757466697	953	E>G		No	ClinGen ExAC gnomAD
CA200652340 rs1004428340	954	G>S		No	ClinGen TOPMed gnomAD
rs1464920964 CA375260255	956	K>Q		No	ClinGen gnomAD
rs767555071 CA5285795	956	K>R		No	ClinGen ExAC gnomAD
CA200652349 rs975268893	958	P>S		No	ClinGen TOPMed
CA5285798 rs149941789	959	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5285797 rs149941789	959	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000119946 CA156536 rs557879885	961	P>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs746705348 CA5285801	962	A>D		No	ClinGen ExAC gnomAD
CA5285800 rs779306739	962	A>T		No	ClinGen ExAC gnomAD
rs770602014 CA5285802	963	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1564324544 CA375260428	964	P>A		No	ClinGen Ensembl
rs146488029 CA5285803	966	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1064164 CA200652385	967	Q>H		No	ClinGen Ensembl
rs745374852 CA5285804	967	Q>P		No	ClinGen ExAC gnomAD
rs1064165 VAR_051694 CA200652390	968	S>P		No	ClinGen UniProt Ensembl dbSNP
CA5285808 rs762958970	969	A>D		No	ClinGen ExAC gnomAD
CA5285807 rs762958970	969	A>G		No	ClinGen ExAC gnomAD
COSM3329299 CA5285806 COSM3329297 rs775585843	969	A>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5285809 rs774185202	971	P>L		No	ClinGen ExAC gnomAD
RCV000119947 rs2229067 CA156539 VAR_025046 RCV002055322	972	S>L		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5285811 rs767789595	972	S>P		No	ClinGen ExAC
CA375260640 rs1284516087	973	G>R		No	ClinGen TOPMed
rs754384449 CA5285814	974	T>I		No	ClinGen ExAC gnomAD
CA200652430 rs376445146	974	T>P		No	ClinGen Ensembl
CA375260671 rs376445146	974	T>S		No	ClinGen Ensembl
CA375260695 rs934451374	975	P>A		No	ClinGen gnomAD
rs201146085 CA375260707	975	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201146085 CA5285816	975	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA200652439 rs934451374	975	P>S		No	ClinGen gnomAD
CA375260693 rs934451374	975	P>T		No	ClinGen gnomAD
RCV000119951 CA156551 rs587778015	977	S>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1228313826 CA375260745	977	S>R		No	ClinGen gnomAD
CA375260755 rs1314086926	978	P>R		No	ClinGen gnomAD
rs1588283880 CA375260766	979	A>V		No	ClinGen Ensembl
rs769473644 CA200652459	981	V>I		No	ClinGen ExAC TOPMed gnomAD
rs769473644 CA5285820	981	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5285822 COSM1460560 COSM1460559 rs779677715	984	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5285825 rs565000284	987	S>L		No	ClinGen 1000Genomes ExAC gnomAD
CA5285827 rs200523450	990	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5285829 rs148337803	991	A>V		No	ClinGen ESP ExAC gnomAD
rs1420583286 CA375260845	993	A>V		No	ClinGen gnomAD
CA5285830 rs369518012 COSM216129	996	Q>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs753899020 CA5285831	997	P>L		No	ClinGen ExAC TOPMed gnomAD
CA375260867 rs1303897063	997	P>T		No	ClinGen TOPMed gnomAD
rs1009628344 CA200652507	998	S>F		No	ClinGen TOPMed
CA5285834 rs753104701	1001	A>T		No	ClinGen ExAC gnomAD
CA375260892 rs1320012629	1001	A>V		No	ClinGen TOPMed
CA375260908 rs1260051087	1003	I>M		No	ClinGen gnomAD
CA5285835 rs758808957	1004	P>A		No	ClinGen ExAC gnomAD
CA375260913 rs1440408888	1004	P>L		No	ClinGen gnomAD
rs778257562 CA5285836	1006	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1462634813 CA375260940	1009	R>Q		No	ClinGen TOPMed gnomAD
CA375260962 rs1285701996	1013	R>Q		No	ClinGen TOPMed
CA5285838 rs755821709	1013	R>W		No	ClinGen ExAC gnomAD
CA200652537 rs373567749	1015	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5285840 rs373567749	1015	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1423362935 CA375260977	1016	R>C		No	ClinGen gnomAD
CA375260980 rs778935845	1016	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5285843 rs778935845	1016	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1588283994 CA375260983	1017	Q>E		No	ClinGen Ensembl
CA5285844 rs748013592	1017	Q>H		No	ClinGen ExAC gnomAD
rs771894842 CA5285845	1018	P>L		No	ClinGen ExAC TOPMed gnomAD
rs201683427 CA200652570	1020	E>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA5285850 rs370992010	1021	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5285849 rs776649059	1021	R>W		No	ClinGen ExAC gnomAD
CA375261016 rs558338170	1022	I>M		No	ClinGen TOPMed gnomAD
rs765181270 CA5285851	1023	A>T		No	ClinGen ExAC TOPMed gnomAD
rs753293012 CA5285852	1024	S>I		No	ClinGen ExAC gnomAD
rs764616226 CA5285854	1025	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1458238928 CA375261033	1025	G>V		No	ClinGen TOPMed gnomAD
rs1198300249 CA375261037	1026	A>G		No	ClinGen TOPMed
rs769680358 CA200652601	1026	A>T		No	ClinGen TOPMed gnomAD
rs1477848387 CA375261060	1030	G>S		No	ClinGen gnomAD
rs757631617 CA5285856	1031	V>M		No	ClinGen ExAC TOPMed gnomAD
CA375261085 rs1170504567	1034	D>A		No	ClinGen TOPMed gnomAD
CA375261086 rs1170504567	1034	D>G		No	ClinGen TOPMed gnomAD
CA200652604 rs988672238	1035	S>N		No	ClinGen Ensembl
rs1378100091 CA375261099	1036	T>S		No	ClinGen TOPMed
CA5285858 rs753386838	1036	T>S		No	ClinGen ExAC gnomAD
rs1330364358 CA375261102	1037	E>K		No	ClinGen gnomAD
CA200652617 rs914391166	1038	A>T		No	ClinGen gnomAD
CA5285860 rs367600262	1038	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5285864 rs746810970	1042	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5285865 rs770672293	1042	A>V		No	ClinGen ExAC gnomAD
rs138480160 CA200652640	1043	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138480160 CA5285866	1043	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1197602471 CA375261225	1045	R>S		No	ClinGen gnomAD
rs1287905726 CA375261244	1046	N>K		No	ClinGen gnomAD
CA5285868 rs769953778	1048	E>K		No	ClinGen ExAC gnomAD
CA200652656 rs921620792	1050	M>L		No	ClinGen Ensembl
rs775425570 CA5285869	1051	A>T		No	ClinGen ExAC gnomAD
rs1477022077 CA375261329	1052	S>G		No	ClinGen TOPMed gnomAD
CA5285870 rs139573337	1053	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs113458739 CA5285873	1055	A>T		No	ClinGen ExAC gnomAD
rs369398388 CA5285874	1055	A>V		No	ClinGen ESP ExAC gnomAD
rs374389732 CA375261422	1058	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764862181 CA5285877	1058	E>G		No	ClinGen ExAC gnomAD
CA375261443 rs777717678	1060	G>C		No	ClinGen ExAC TOPMed gnomAD
CA200652696 rs865903440	1060	G>D		No	ClinGen Ensembl
rs777717678 COSM3699277 COSM3699275 CA5285880	1060	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5285881 rs746899144	1061	K>I		No	ClinGen ExAC gnomAD
rs757093402 CA5285882	1063	L>F		No	ClinGen ExAC gnomAD
CA375261542 rs1287426846	1064	Y>C		No	ClinGen TOPMed
rs780815133 CA5285883	1065	T>M		No	ClinGen ExAC TOPMed gnomAD
CA375261559 rs1210539774	1065	T>S		No	ClinGen gnomAD
rs1453781755 CA375261615	1066	F>L		No	ClinGen gnomAD
CA375261658 rs749413196	1068	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5285887 rs749413196	1068	V>M		No	ClinGen ExAC TOPMed gnomAD
rs996624163 CA200652753	1074	I>V		No	ClinGen TOPMed
rs1368430505 CA375261797	1075	Q>L		No	ClinGen gnomAD
rs1368430505 CA375261795	1075	Q>R		No	ClinGen gnomAD
CA5285891 rs767992609	1076	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA375261877 rs1297346592	1079	N>K		No	ClinGen TOPMed gnomAD
CA5285893 rs761044550	1079	N>S		No	ClinGen ExAC gnomAD
CA5285895 rs752304600	1082	A>V		No	ClinGen ExAC gnomAD
COSM1701830 COSM1701828 rs1414848177 CA375261949	1084	R>Q	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5285897 rs763572862	1086	A>T		No	ClinGen ExAC gnomAD
rs1158507202 CA375262012	1088	N>D		No	ClinGen TOPMed
rs781095816 CA5285900	1092	N>K		No	ClinGen ExAC gnomAD
COSM3952390 COSM3952392 rs1239769546 CA375262090	1092	N>S	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA375262084 rs1427306094	1092	N>Y		No	ClinGen TOPMed
CA375262108 rs1003322722	1095	R>P		No	ClinGen gnomAD
CA200652798 rs1003322722	1095	R>Q		No	ClinGen gnomAD
COSM1460565 COSM1460566 rs750196179 CA5285901	1095	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA375262120 rs1256041021	1097	L>F		No	ClinGen gnomAD
CA375262148 rs1443540895	1101	P>A		No	ClinGen gnomAD
rs780164415 CA5285903	1102	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5285905 rs768644488	1105	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1364046851 CA375262176	1106	S>C		No	ClinGen TOPMed gnomAD
rs1332198888 CA375262177	1106	S>N		No	ClinGen TOPMed gnomAD
CA5285906 rs779131262	1108	P>L		No	ClinGen ExAC TOPMed gnomAD
CA375262191 rs779131262	1108	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA375262195 rs1453369903	1109	A>S		No	ClinGen gnomAD
CA200652836 rs1021481710	1109	A>V		No	ClinGen TOPMed gnomAD
CA375262198 rs1446134752	1110	A>T		No	ClinGen gnomAD
rs771276435 CA5285911	1111	T>I		No	ClinGen ExAC gnomAD
rs760976509 CA5285910	1111	T>P		No	ClinGen ExAC gnomAD
CA5285912 rs775170909	1114	F>L		No	ClinGen ExAC gnomAD
rs144436961 CA5285913	1115	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs751052534 CA5285915	1119	S>G		No	ClinGen ExAC gnomAD
rs1456042173 CA375262303	1120	S>L		No	ClinGen gnomAD
rs921882924 CA200652869	1122	K>R		No	ClinGen Ensembl
CA200652872 rs954641600	1126	D>N		No	ClinGen Ensembl
CA375262397 rs1564325056	1127	I>V		No	ClinGen Ensembl
rs980915781 CA200652876	1128	V>A		No	ClinGen TOPMed gnomAD
rs1196473209 CA375262430	1130	R>G		No	ClinGen gnomAD
rs767358885 CA5285917	1130	R>M		No	ClinGen ExAC gnomAD

4 associated diseases with P00519

[MIM: 608232]: Leukemia, chronic myeloid (CML)

A clonal myeloproliferative disorder of a pluripotent stem cell with a specific cytogenetic abnormality, the Philadelphia chromosome (Ph), involving myeloid, erythroid, megakaryocytic, B-lymphoid, and sometimes T-lymphoid cells, but not marrow fibroblasts. Note=The gene represented in this entry is involved in disease pathogenesis.

[MIM: 617602]: Congenital heart defects and skeletal malformations syndrome (CHDSKM)

An autosomal dominant disorder characterized by congenital heart disease with atrial and ventricular septal defects, variable skeletal abnormalities, and failure to thrive. Skeletal defects include pectus excavatum, scoliosis, and finger contractures. Some patient exhibit joint laxity. {ECO:0000269|PubMed:28288113}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A clonal myeloproliferative disorder of a pluripotent stem cell with a specific cytogenetic abnormality, the Philadelphia chromosome (Ph), involving myeloid, erythroid, megakaryocytic, B-lymphoid, and sometimes T-lymphoid cells, but not marrow fibroblasts. Note=The gene represented in this entry is involved in disease pathogenesis.
An autosomal dominant disorder characterized by congenital heart disease with atrial and ventricular septal defects, variable skeletal abnormalities, and failure to thrive. Skeletal defects include pectus excavatum, scoliosis, and finger contractures. Some patient exhibit joint laxity. {ECO:0000269|PubMed:28288113}. Note=The disease is caused by variants affecting the gene represented in this entry.

9 regional properties for P00519

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	242 - 493	IPR000719
domain	SH2 domain	125 - 217	IPR000980
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	242 - 492	IPR001245
domain	SH3 domain	61 - 121	IPR001452
active_site	Tyrosine-protein kinase, active site	359 - 371	IPR008266
domain	F-actin binding	1004 - 1130	IPR015015
binding_site	Protein kinase, ATP binding site	248 - 271	IPR017441
domain	Tyrosine-protein kinase, catalytic domain	242 - 493	IPR020635
domain	Tyrosine-protein kinase ABL, SH2 domain	123 - 216	IPR035837

Functions

		Description
EC Number	2.7.10.2	Protein-tyrosine kinases
Subcellular Localization	Cytoplasm, cytoskeleton Nucleus Mitochondrion	Shuttles between the nucleus and cytoplasm depending on environmental signals Sequestered into the cytoplasm through interaction with 14-3-3 proteins Localizes to mitochondria in response to oxidative stress (By similarity)
PANTHER Family	PTHR24418	TYROSINE-PROTEIN KINASE
PANTHER Subfamily	PTHR24418:SF438	TYROSINE-PROTEIN KINASE ABL1
PANTHER Protein Class	non-receptor tyrosine protein kinase
PANTHER Pathway Category	Integrin signalling pathway Abl Axon guidance mediated by Slit/Robo Abl

17 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.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
growth cone	The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
nuclear body	Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
nuclear membrane	Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
postsynapse	The part of a synapse that is part of the post-synaptic cell.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
ruffle	Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork.

27 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.
bubble DNA binding	Binding to DNA segment that contains a bubble. A bubble occurs when DNA contains a region of unpaired, single-stranded DNA flanked on both sides by regions of paired, double-stranded DNA.
delta-catenin binding	Binding to the delta subunit of the catenin complex.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
ephrin receptor binding	Binding to an ephrin receptor.
four-way junction DNA binding	Binding to a DNA segment containing four-way junctions, also known as Holliday junctions, a structure where two DNA double strands are held together by reciprocal exchange of two of the four strands, one strand each from the two original helices.
kinase activity	Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
magnesium ion binding	Binding to a magnesium (Mg) ion.
manganese ion binding	Binding to a manganese ion (Mn).
mitogen-activated protein kinase binding	Binding to a mitogen-activated protein kinase.
neuropilin binding	Binding to a member of the neuropilin family.
nicotinate-nucleotide adenylyltransferase activity	Catalysis of the reaction: ATP + nicotinate ribonucleotide = diphosphate + deamido-NAD+.
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.
phosphotyrosine residue binding	Binding to a phosphorylated tyrosine residue within a protein.
proline-rich region binding	Binding to a proline-rich region, i.e. a region that contains a high proportion of proline residues, in a protein.
protein C-terminus binding	Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
protein kinase C binding	Binding to protein kinase C.
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
protein tyrosine kinase activity	Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.
SH2 domain binding	Binding to a SH2 domain (Src homology 2) of a protein, a protein domain of about 100 amino-acid residues and belonging to the alpha + beta domain class.
SH3 domain binding	Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.
syntaxin binding	Binding to a syntaxin, a SNAP receptor involved in the docking of synaptic vesicles at the presynaptic zone of a synapse.
transcription coactivator activity	A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.

111 GO annotations of biological process

Name	Definition
actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
actin filament branching	The formation of daughter actin filament branches at an angle on the sides of preexisting mother filaments.
actin filament polymerization	Assembly of actin filaments by the addition of actin monomers to a filament.
activated T cell proliferation	The expansion of a T cell population following activation by an antigenic stimulus.
activation of protein kinase C activity	Any process that initiates the activity of the inactive enzyme protein kinase C.
alpha-beta T cell differentiation	The process in which a precursor cell type acquires the specialized features of an alpha-beta T cell. An alpha-beta T cell is a T cell that expresses an alpha-beta T cell receptor complex.
associative learning	Learning by associating a stimulus (the cause) with a particular outcome (the effect).
autophagy	The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation.
B cell proliferation involved in immune response	The expansion of a B cell population by cell division following B cell activation during an immune response.
B cell receptor signaling pathway	The series of molecular signals initiated by the cross-linking of an antigen receptor on a B cell.
B-1 B cell homeostasis	The process of regulating the proliferation and elimination of B cells of the B-1 subset such that the total number of B-1 B cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. B-1 B cells are a distinct subset of B cells characterized as being CD5 positive, found predominantly in the peritoneum, pleural cavities, and spleen, and enriched for self-reactivity.
Bergmann glial cell differentiation	The process in which neuroepithelial cells of the neural tube give rise to Brgmann glial cells, specialized bipotential progenitors cells of the cerebellum. Differentiation includes the processes involved in commitment of a cell to a specific fate.
cellular response to DNA damage stimulus	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 stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
cellular response to dopamine	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 dopamine stimulus.
cellular response to hydrogen peroxide	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 hydrogen peroxide (H2O2) stimulus.
cellular response to lipopolysaccharide	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 lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
cellular response to oxidative stress	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals.
cellular response to transforming growth factor beta stimulus	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 transforming growth factor beta stimulus.
cerebellum morphogenesis	The process in which the anatomical structure of the cerebellum is generated and organized. The cerebellum is the portion of the brain in the back of the head between the cerebrum and the pons. The cerebellum controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills.
circulatory system development	The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.
collateral sprouting	The process in which outgrowths develop from the shafts of existing axons.
DNA conformation change	A cellular process that results in a change in the spatial configuration of a DNA molecule. A conformation change can bend DNA, or alter the, twist, writhe, or linking number of a DNA molecule.
DNA damage induced protein phosphorylation	The widespread phosphorylation of various molecules, triggering many downstream processes, that occurs in response to the detection of DNA damage.
endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
endothelial cell migration	The orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
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.
establishment of protein localization	The directed movement of a protein to a specific location.
Fc-gamma receptor signaling pathway involved in phagocytosis	An Fc-gamma receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes.
glomerular visceral epithelial cell apoptotic process	Any apoptotic process in a glomerular visceral epithelial cell.
integrin-mediated signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
intrinsic apoptotic signaling pathway in response to DNA damage	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the detection of DNA damage, and ends when the execution phase of apoptosis is triggered.
microspike assembly	Formation of a microspike, a dynamic, actin-rich projection extending from the surface of a migrating animal cell.
mismatch repair	A system for the correction of errors in which an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination.
mitochondrial depolarization	The process in which the potential difference across the mitochondrial membrane is reduced from its steady state level.
mitotic cell cycle	Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent.
negative regulation of BMP signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the BMP signaling pathway.
negative regulation of cell-cell adhesion	Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell.
negative regulation of cellular senescence	Any process that stops, prevents or reduces the frequency, rate or extent of cellular senescence.
negative regulation of endothelial cell apoptotic process	Any process that stops, prevents or reduces the frequency, rate or extent of endothelial cell apoptotic process.
negative regulation of ERK1 and ERK2 cascade	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
negative regulation of I-kappaB kinase/NF-kappaB signaling	Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling.
negative regulation of long-term synaptic potentiation	Any process that stops, prevents or reduces the frequency, rate or extent of long-term synaptic potentiation.
negative regulation of mitotic cell cycle	Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle.
negative regulation of phospholipase C activity	Any process that stops, prevents or reduces the frequency, rate or extent of phospholipase C activity.
negative regulation of protein serine/threonine kinase activity	Any process that decreases the rate, frequency, or extent of protein serine/threonine kinase activity.
negative regulation of ubiquitin-protein transferase activity	Any process that stops, prevents, or reduces the frequency, rate or extent of ubiquitin transferase activity.
neural tube closure	The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline.
neuroepithelial cell differentiation	The process in which epiblast cells acquire specialized features of neuroepithelial cells.
neuromuscular process controlling balance	Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors.
neuropilin signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a neuropilin protein on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
peptidyl-tyrosine autophosphorylation	The phosphorylation by a protein of one or more of its own tyrosine amino acid residues, or a tyrosine residue on an identical protein.
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
platelet-derived growth factor receptor-beta signaling pathway	The series of molecular signals initiated by the binding of a ligand to a beta-type platelet-derived growth factor receptor (PDGFbeta) on the surface of a signal-receiving cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
positive regulation of actin cytoskeleton reorganization	Any process that activates or increases the frequency, rate or extent of actin cytoskeleton reorganization.
positive regulation of actin filament binding	Any process that activates or increases the frequency, rate or extent of actin filament binding.
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of blood vessel branching	Any process that activates or increases the frequency, rate or extent of blood vessel branching.
positive regulation of cell migration involved in sprouting angiogenesis	Any process that increases the frequency, rate or extent of cell migration involved in sprouting angiogenesis. Cell migration involved in sprouting angiogenesis is the orderly movement of endothelial cells into the extracellular matrix in order to form new blood vessels contributing to the process of sprouting angiogenesis.
positive regulation of cytosolic calcium ion concentration	Any process that increases the concentration of calcium ions in the cytosol.
positive regulation of dendrite development	Any process that activates or increases the frequency, rate or extent of dendrite development.
positive regulation of endothelial cell migration	Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
positive regulation of ERK1 and ERK2 cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of extracellular matrix organization	Any process that activates or increases the frequency, rate or extent of extracellular matrix organization.
positive regulation of fibroblast proliferation	Any process that activates or increases the frequency, rate or extent of multiplication or reproduction of fibroblast cells.
positive regulation of focal adhesion assembly	Any process that activates or increases the frequency, rate or extent of focal adhesion assembly, the establishment and maturation of focal adhesions.
positive regulation of hydrogen peroxide-mediated programmed cell death	Any process that activates or increases the frequency, rate or extent of hydrogen peroxide-mediated programmed cell death.
positive regulation of I-kappaB kinase/NF-kappaB signaling	Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling.
positive regulation of interferon-gamma production	Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon.
positive regulation of interleukin-2 production	Any process that activates or increases the frequency, rate, or extent of interleukin-2 production.
positive regulation of microtubule binding	Any process that activates or increases the frequency, rate or extent of microtubule binding.
positive regulation of mitotic cell cycle	Any process that activates or increases the rate or extent of progression through the mitotic cell cycle.
positive regulation of neuron apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death of neurons by apoptotic process.
positive regulation of osteoblast proliferation	Any process that activates or increases the rate or extent of osteoblast proliferation.
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 peptidyl-tyrosine phosphorylation	Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine.
positive regulation of protein phosphorylation	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of release of sequestered calcium ion into cytosol	Any process that activates or increases the frequency, rate or extent of the release into the cytosolic compartment of calcium ions sequestered in the endoplasmic reticulum or mitochondria.
positive regulation of stress fiber assembly	Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.
positive regulation of substrate adhesion-dependent cell spreading	Any process that activates or increases the frequency, rate or extent of substrate adhesion-dependent cell spreading.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of vasoconstriction	Any process that activates or increases the frequency, rate or extent of vasoconstriction.
positive regulation of Wnt signaling pathway, planar cell polarity pathway	Any process that activates or increases the frequency, rate or extent of Wnt signaling pathway, planar cell polarity pathway.
post-embryonic development	The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development.
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.
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 actin cytoskeleton reorganization	Any process that modulates the frequency, rate or extent of actin cytoskeleton reorganization.
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 axon extension	Any process that modulates the rate, direction or extent of axon extension.
regulation of Cdc42 protein signal transduction	Any process that modulates the frequency, rate or extent of Cdc42 protein signal transduction.
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 cycle	Any process that modulates the rate or extent of progression through the cell cycle.
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.
regulation of hematopoietic stem cell differentiation	Any process that modulates the frequency, rate or extent of hematopoietic stem cell differentiation.
regulation of microtubule polymerization	Any process that modulates the frequency, rate or extent of microtubule polymerization.
regulation of modification of synaptic structure	Any process that modulates the frequency, rate or extent of modification of synaptic structure.
regulation of response to DNA damage stimulus	Any process that modulates the frequency, rate or extent of response to DNA damage stimulus.
regulation of T cell differentiation	Any process that modulates the frequency, rate or extent of T cell differentiation.
regulation of transcription, DNA-templated	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
response to endoplasmic reticulum stress	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen.
response to epinephrine	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an epinephrine stimulus. Epinephrine is a catecholamine that has the formula C9H13NO3; it is secreted by the adrenal medulla to act as a hormone, and released by certain neurons to act as a neurotransmitter active in the central nervous system.
response to oxidative stress	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals.
response to xenobiotic stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
signal transduction in response to DNA damage	A cascade of processes induced by the detection of DNA damage within a cell.
spleen development	The process whose specific outcome is the progression of the spleen over time, from its formation to the mature structure. The spleen is a large vascular lymphatic organ composed of white and red pulp, involved both in hemopoietic and immune system functions.
substrate adhesion-dependent cell spreading	The morphogenetic process that results in flattening of a cell as a consequence of its adhesion to a substrate.
T cell receptor signaling pathway	The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell.
thymus development	The process whose specific outcome is the progression of the thymus over time, from its formation to the mature structure. The thymus is a symmetric bi-lobed organ involved primarily in the differentiation of immature to mature T cells, with unique vascular, nervous, epithelial, and lymphoid cell components.
transitional one stage B cell differentiation	The process in which immature B cells from the bone marrow acquire the specialized features of T1 stage B cells in the spleen. T1 stage B cells do not express either CD23 or CD21.

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
P42684	ABL2	Tyrosine-protein kinase ABL2	Homo sapiens (Human)	SS
Q4JIM5	Abl2	Tyrosine-protein kinase ABL2	Mus musculus (Mouse)	SS
P00520	Abl1	Tyrosine-protein kinase ABL1	Mus musculus (Mouse)	EV
P03949	abl-1	Tyrosine-protein kinase abl-1	Caenorhabditis elegans	SS

10	20	30	40	50	60
MLEICLKLVG	CKSKKGLSSS	SSCYLEEALQ	RPVASDFEPQ	GLSEAARWNS	KENLLAGPSE
70	80	90	100	110	120
NDPNLFVALY	DFVASGDNTL	SITKGEKLRV	LGYNHNGEWC	EAQTKNGQGW	VPSNYITPVN
130	140	150	160	170	180
SLEKHSWYHG	PVSRNAAEYL	LSSGINGSFL	VRESESSPGQ	RSISLRYEGR	VYHYRINTAS
190	200	210	220	230	240
DGKLYVSSES	RFNTLAELVH	HHSTVADGLI	TTLHYPAPKR	NKPTVYGVSP	NYDKWEMERT
250	260	270	280	290	300
DITMKHKLGG	GQYGEVYEGV	WKKYSLTVAV	KTLKEDTMEV	EEFLKEAAVM	KEIKHPNLVQ
310	320	330	340	350	360
LLGVCTREPP	FYIITEFMTY	GNLLDYLREC	NRQEVNAVVL	LYMATQISSA	MEYLEKKNFI
370	380	390	400	410	420
HRDLAARNCL	VGENHLVKVA	DFGLSRLMTG	DTYTAHAGAK	FPIKWTAPES	LAYNKFSIKS
430	440	450	460	470	480
DVWAFGVLLW	EIATYGMSPY	PGIDLSQVYE	LLEKDYRMER	PEGCPEKVYE	LMRACWQWNP
490	500	510	520	530	540
SDRPSFAEIH	QAFETMFQES	SISDEVEKEL	GKQGVRGAVS	TLLQAPELPT	KTRTSRRAAE
550	560	570	580	590	600
HRDTTDVPEM	PHSKGQGESD	PLDHEPAVSP	LLPRKERGPP	EGGLNEDERL	LPKDKKTNLF
610	620	630	640	650	660
SALIKKKKKT	APTPPKRSSS	FREMDGQPER	RGAGEEEGRD	ISNGALAFTP	LDTADPAKSP
670	680	690	700	710	720
KPSNGAGVPN	GALRESGGSG	FRSPHLWKKS	STLTSSRLAT	GEEEGGGSSS	KRFLRSCSAS
730	740	750	760	770	780
CVPHGAKDTE	WRSVTLPRDL	QSTGRQFDSS	TFGGHKSEKP	ALPRKRAGEN	RSDQVTRGTV
790	800	810	820	830	840
TPPPRLVKKN	EEAADEVFKD	IMESSPGSSP	PNLTPKPLRR	QVTVAPASGL	PHKEEAGKGS
850	860	870	880	890	900
ALGTPAAAEP	VTPTSKAGSG	APGGTSKGPA	EESRVRRHKH	SSESPGRDKG	KLSRLKPAPP
910	920	930	940	950	960
PPPAASAGKA	GGKPSQSPSQ	EAAGEAVLGA	KTKATSLVDA	VNSDAAKPSQ	PGEGLKKPVL
970	980	990	1000	1010	1020
PATPKPQSAK	PSGTPISPAP	VPSTLPSASS	ALAGDQPSST	AFIPLISTRV	SLRKTRQPPE
1030	1040	1050	1060	1070	1080
RIASGAITKG	VVLDSTEALC	LAISRNSEQM	ASHSAVLEAG	KNLYTFCVSY	VDSIQQMRNK
1090	1100	1110	1120
FAFREAINKL	ENNLRELQIC	PATAGSGPAA	TQDFSKLLSS	VKEISDIVQR