AiPD: Autoinhibited Protein Database

P07333

Gene name	CSF1R (FMS)
Protein name	Macrophage colony-stimulating factor 1 receptor
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1436
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class

Descriptions

CSF1R is a tyrosine-protein kinase that acts as cell-surface receptor for CSF1 and IL34 and plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. CSF1R contains a conserved juxtamembrane region that may autoinhibit the kinase domain of CSF1R. Like other receptor tyrosine kinases, CSF1R may have other autoinhibitory regions.

Autoinhibitory domains (AIDs)

539-576 (Juxtamembrane domain) SS

Target domain	582-910 (Protein kinase domain)
Relief mechanism
Assay

AID

539-576 (Juxtamembrane domain)

Target domain

582-910 (Protein kinase domain)

Relief mechanism

Assay

Accessory elements

795-820 (Activation loop from InterPro)

Target domain	582-910 (Protein kinase domain)
Relief mechanism
Assay

References

Roskoski R Jr (2008) "VEGF receptor protein-tyrosine kinases: structure and regulation", Biochemical and biophysical research communications, 375, 287-91

Wang X et al. (2020) "Molecular Bases of VEGFR-2-Mediated Physiological Function and Pathological Role", Frontiers in cell and developmental biology, 8, 599281

Shewchuk LM et al. (2000) "Structure of the Tie2 RTK domain: self-inhibition by the nucleotide binding loop, activation loop, and C-terminal tail", Structure (London, England : 1993), 8, 1105-13

Stuttfeld E et al. (2009) "Structure and function of VEGF receptors", IUBMB life, 61, 915-22

Griffith J et al. (2004) "The structural basis for autoinhibition of FLT3 by the juxtamembrane domain", Molecular cell, 13, 169-78

Reindl C et al. (2006) "From kinases to cancer: leakiness, loss of autoinhibition and leukemia", Cell cycle (Georgetown, Tex.), 5, 599-602

Jiang J et al. (2004) "Identifying and characterizing a novel activating mutation of the FLT3 tyrosine kinase in AML", Blood, 104, 1855-8

Hubbard SR (2004) "Juxtamembrane autoinhibition in receptor tyrosine kinases", Nature reviews. Molecular cell biology, 5, 464-71

Chiara F et al. (2004) "Autoinhibition of the platelet-derived growth factor beta-receptor tyrosine kinase by its C-terminal tail", The Journal of biological chemistry, 279, 19732-8

Mol CD et al. (2004) "Structural basis for the autoinhibition and STI-571 inhibition of c-Kit tyrosine kinase", The Journal of biological chemistry, 279, 31655-63

Zhang X et al. (2006) "An allosteric mechanism for activation of the kinase domain of epidermal growth factor receptor", Cell, 125, 1137-49

Ferguson KM et al. (2003) "EGF activates its receptor by removing interactions that autoinhibit ectodomain dimerization", Molecular cell, 11, 507-17

Whitson KB et al. (2005) "Functional effects of glycosylation at Asn-579 of the epidermal growth factor receptor", Biochemistry, 44, 14920-31

Contessa JN et al. (2008) "Inhibition of N-linked glycosylation disrupts receptor tyrosine kinase signaling in tumor cells", Cancer research, 68, 3803-9

Yokoyama N et al. (2005) "The C terminus of RON tyrosine kinase plays an autoinhibitory role", The Journal of biological chemistry, 280, 8893-900

Huang X et al. (2009) "Structural insights into the inhibited states of the Mer receptor tyrosine kinase", Journal of structural biology, 165, 88-96

Lew ED et al. (2007) "Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation", Proceedings of the National Academy of Sciences of the United States of America, 104, 19802-7

Kalinina J et al. (2012) "The alternatively spliced acid box region plays a key role in FGF receptor autoinhibition", Structure (London, England : 1993), 20, 77-88

Uchikawa E et al. (2019) "Activation mechanism of the insulin receptor revealed by cryo-EM structure of the fully liganded receptor-ligand complex", eLife, 8,

Nielsen J et al. (2022) "Structural Investigations of Full-Length Insulin Receptor Dynamics and Signalling", Journal of molecular biology, 434, 167458

Chen YS et al. (2021) "Insertion of a synthetic switch into insulin provides metabolite-dependent regulation of hormone-receptor activation", Proceedings of the National Academy of Sciences of the United States of America, 118,

Craddock BP et al. (2007) "Autoinhibition of the insulin-like growth factor I receptor by the juxtamembrane region", FEBS letters, 581, 3235-40

Bossi RT et al. (2010) "Crystal structures of anaplastic lymphoma kinase in complex with ATP competitive inhibitors", Biochemistry, 49, 6813-25

Donella-Deana A et al. (2005) "Unique substrate specificity of anaplastic lymphoma kinase (ALK): development of phosphoacceptor peptides for the assay of ALK activity", Biochemistry, 44, 8533-42

Arevalo JC et al. (2000) "TrkA immunoglobulin-like ligand binding domains inhibit spontaneous activation of the receptor", Molecular and cellular biology, 20, 5908-16

Artim SC et al. (2012) "Assessing the range of kinase autoinhibition mechanisms in the insulin receptor family", The Biochemical journal, 448, 213-20

Shen J et al. (2019) "Extracellular Juxtamembrane Motif Critical for TrkB Preformed Dimer and Activation", Cells, 8,

Sammon D et al. (2020) "Two-step release of kinase autoinhibition in discoidin domain receptor 1", Proceedings of the National Academy of Sciences of the United States of America, 117, 22051-22060

Fu HL et al. (2014) "Glycosylation at Asn211 regulates the activation state of the discoidin domain receptor 1 (DDR1)", The Journal of biological chemistry, 289, 9275-87

Knowles PP et al. (2006) "Structure and chemical inhibition of the RET tyrosine kinase domain", The Journal of biological chemistry, 281, 33577-87

Autoinhibited structure

Activated structure

24 structures for P07333

Entry ID	Method	Resolution	Chain	Position	Source
2I0V	X-ray	280 A			PDB
2I0Y	X-ray	190 A			PDB
2I1M	X-ray	180 A			PDB
2OGV	X-ray	270 A	A	543-918	PDB
3BEA	X-ray	202 A			PDB
3DPK	X-ray	195 A			PDB
3KRJ	X-ray	210 A			PDB
3KRL	X-ray	240 A			PDB
3LCD	X-ray	250 A	A	538-919	PDB
3LCO	X-ray	340 A	A	550-919	PDB
4DKD	X-ray	300 A	C	20-299	PDB
4HW7	X-ray	290 A	A	542-919	PDB
4LIQ	X-ray	260 A	E	2-512	PDB
4R7H	X-ray	280 A	A	542-919	PDB
4R7I	X-ray	275 A	A	542-919	PDB
4WRL	X-ray	280 A	A/C	20-296	PDB
4WRM	X-ray	685 A	A	20-504	PDB
6IG8	X-ray	180 A	A	550-919	PDB
6N33	X-ray	225 A	A	542-919	PDB
6T2W	X-ray	170 A	A	542-919	PDB
6WXJ	X-ray	262 A			PDB
7MFC	X-ray	280 A	A	542-919	PDB
8CGC	X-ray	193 A	A	542-919	PDB
AF-P07333-F1	Predicted				AlphaFoldDB

741 variants for P07333

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA3507322 rs761624770 RCV000306661	5	V>L	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA3507281 COSM51393 RCV000346339 RCV001579719 RCV000966352 VAR_042038 rs56048668	32	V>G	Hereditary diffuse leukoencephalopathy with spheroids endometrium [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000351143 rs748096324 CA3507247	75	T>I	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000371986 CA3507234 rs150475750	90	P>T	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA361735548 rs1413974974 RCV001155700	100	Y>C	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA3507205 rs143025739 RCV000320554 COSM29205	106	R>W	Hereditary diffuse leukoencephalopathy with spheroids haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1758477235 RCV001153082	113	Q>E	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinVar dbSNP
rs566891025 CA3507199 RCV001196349	117	V>M	Brain abnormalities, neurodegeneration, and dysosteosclerosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_083140 RCV000785984 CA361734243 rs1351319114	132	P>L	BANDDOS; impairs phosphorylation of JNK kinases upon stimulation with CSF1 Brain abnormalities, neurodegeneration, and dysosteosclerosis [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
CA129077583 rs1029057991 RCV000584893 RCV001153080	150	R>H	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA361733302 rs1187678502 RCV001249778 RCV001751515	166	R>K	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000998471 rs780547939 CA3507166 RCV000265552	173	Q>R	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA3507120 RCV001153079 rs376495524	214	R>Q	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs754023795 RCV001153078 CA3507103	240	N>K	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs79702016 RCV000323908 CA3507102	241	N>D	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000308564 rs41338945 CA3507075 VAR_061290	245	A>S	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001850861 RCV000363317 CA3507076 rs41338945	245	A>T	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000401860 rs146406037 CA3507069	255	N>I	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000367035 CA3507059 rs143274491	268	V>I	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_049718 COSM218829 COSM218828 RCV000312247 rs3829986 CA3507053	279	V>M	pancreas Hereditary diffuse leukoencephalopathy with spheroids [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3507044 rs149168939 RCV000394491	294	R>Q	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001858996 rs370361925 RCV001151837 CA3506992	299	A>T	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs121913390 COSM946 CA16602722 RCV000434527	301	L>*	Neoplasm haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1057520014 CA16603115 COSM953 RCV000432996	301	L>F	Hematologic neoplasm haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs121913390 COSM954 RCV000424293 CA16602721 RCV000441113	301	L>S	Neoplasm liver Hematologic neoplasm haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA3506984 RCV001858995 rs756763314 RCV001151836	315	V>M	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3506944 RCV000280124 VAR_042039 rs10079250	362	H>R	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs377213618 CA3506902 RCV001157284	406	V>I	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001157283 CA3506901 rs372924085	407	I>T	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
COSM956 CA3506897 rs34951517 VAR_042040 RCV000283749	413	G>S	lung Hereditary diffuse leukoencephalopathy with spheroids haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000377854 CA10620889 rs886060257	436	G>S	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001196009 rs756493296 RCV001876271 CA3506854	468	V>L	Brain abnormalities, neurodegeneration, and dysosteosclerosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA129068991 VAR_083141 rs917027829 RCV000624615	481	Q>missing	BANDDOS Inborn genetic diseases [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA3506794 rs538359948 RCV000381774	507	T>M	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000942553 rs55942044 RCV000327207 VAR_042041 CA3506773	536	L>V	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1757862455 RCV001331371	540	Y>*	Brain abnormalities, neurodegeneration, and dysosteosclerosis [ClinVar]	Yes	ClinVar dbSNP
rs690016546 RCV000149521	567	T>missing	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinVar dbSNP
RCV000430977 COSM29145 CA16602623 rs1057519802 RCV000440400	571	Y>D	Hematologic neoplasm haematopoietic_and_lymphoid_tissue Myeloproliferative disorder [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs281860268 CA343005 VAR_067397	589	G>E	HDLS1 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
rs1757529135 RCV001249332 RCV001577379	589	G>R	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinVar dbSNP
rs1757528753 RCV001261535	591	G>E	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinVar dbSNP
rs1554101963 RCV000785987 VAR_083142 RCV000522082	627	K>missing	BANDDOS; impairs phosphorylation of JNK kinases upon stimulation with CSF1 Brain abnormalities, neurodegeneration, and dysosteosclerosis [UniProt, ClinVar]	Yes	ClinVar UniProt dbSNP
VAR_067398 CA342706 rs281860269	633	E>K	HDLS1; impairs autophosphorylation upon stimulation with CSF1 [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
CA361713811 RCV000785990 VAR_083143 rs184499252	643	H>Q	BANDDOS Brain abnormalities, neurodegeneration, and dysosteosclerosis [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_072081 rs690016559 CA346092	653	C>R	HDLS1 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
CA345022 rs397515555 RCV000055910	653	C>Y	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000106403 rs587777245	688	S>missing	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinVar dbSNP
rs201569135 RCV001151728 VAR_067399 COSM243869 CA3506570 COSM243870	710	R>H	Hereditary diffuse leukoencephalopathy with spheroids prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs371017407 RCV000395556 CA3506531	722	T>N	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000302987 rs199915312 CA3506514	739	E>D	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV000395559 rs41355444 CA3506492 VAR_067400	747	G>R	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000342657 rs560352241 COSM29203 CA3506484 RCV002058519	753	R>Q	Hereditary diffuse leukoencephalopathy with spheroids haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_083144 CA346106 rs690016566	765	G>D	HDLS1; impairs autophosphorylation upon stimulation with CSF1 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
CA343007 VAR_067401 RCV000031928 rs281860270	766	M>T	HDLS1; impairs autophosphorylation upon stimulation with CSF1 Hereditary diffuse leukoencephalopathy with spheroids [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA343009 VAR_067402 rs281860271	770	A>P	HDLS1 [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs281860273 CA343012 VAR_067404 RCV000031931	775	I>N	HDLS1; impairs autophosphorylation upon stimulation with CSF1 Hereditary diffuse leukoencephalopathy with spheroids [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000736246 CA361759066 rs1561905293	776	H>Y	Alzheimer disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs587777247 VAR_083145 CA345466	781	A>E	HDLS1; impairs autophosphorylation upon stimulation with CSF1 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
VAR_083146 rs281860281 CA343014	782	R>H	HDLS1; impairs autophosphorylation upon stimulation with CSF1 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
CA342709 VAR_067405 rs281860274	794	I>T	HDLS1; impairs autophosphorylation upon stimulation with CSF1 [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
RCV000055912 CA345026 rs397515557	828	F>S	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001331372 CA361758430 COSM1328983 rs1403823146 COSM1328982	835	Q>*	ovary Hereditary diffuse leukoencephalopathy with spheroids [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
VAR_067406 RCV000022688 rs387906662 CA259666	837	D>Y	Hereditary diffuse leukoencephalopathy with spheroids HDLS1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1757199923 RCV001253704	839	W>C	Brain abnormalities, neurodegeneration, and dysosteosclerosis [ClinVar]	Yes	ClinVar dbSNP
CA346090 VAR_072082 rs690016558	843	I>F	HDLS1 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
RCV000754617 rs1561904557 CA913189498	843	I>GI	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000987617 CA361758334 rs1581279568	844	L>P	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000031935 rs281860276	849	F>missing	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinVar dbSNP
rs281860277 VAR_067407 CA343017 RCV000031934	849	F>S	Hereditary diffuse leukoencephalopathy with spheroids HDLS1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000031936 CA343021 rs281860278 VAR_067409	868	L>P	Hereditary diffuse leukoencephalopathy with spheroids HDLS1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001157187 RCV002032454 CA3506401 rs281860278	868	L>R	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3506400 RCV001333368 rs778711104	871	D>E	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000291372 CA10623551 rs886060255	874	Q>H	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_067410 rs281860279 CA342704	875	M>T	HDLS1; impairs autophosphorylation upon stimulation with CSF1 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
RCV000031937 VAR_067411 CA343023 rs281860280	878	P>T	Hereditary diffuse leukoencephalopathy with spheroids HDLS1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1561901881 RCV000736245 CA361757419	891	A>P	Alzheimer disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1757092904 RCV001090101	900	R>K	Frontotemporal dementia [ClinVar]	Yes	ClinVar dbSNP
rs690016560 CA346094 VAR_072083	906	I>T	HDLS1 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
RCV001253191 rs1757090477	907	C>missing	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinVar dbSNP
CA3506368 RCV000513367 RCV001157186 rs142435467	916	E>K	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs34030164 VAR_042043 CA3506365 RCV000331413	920	E>D	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3506363 RCV000389397 rs56059682	921	R>P	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000276317 CA3506364 RCV002061267 rs202216061	921	R>W	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA16602717 COSM955 RCV000429439 COSM949 rs121913392	969	Y>*	Neoplasm haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM955 CA16602716 RCV000418290 COSM949 rs121913392	969	Y>*	Neoplasm haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA16602719 rs1801271 COSM947 RCV000429697 RCV000440792 VAR_011953	969	Y>C	Neoplasm Hematologic neoplasm haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000439671 CA16602718 rs1801271 COSM948 RCV000419424	969	Y>F	Neoplasm Hematologic neoplasm haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM952 RCV000423228 RCV000434345 rs121913393 CA16602720	969	Y>H	Neoplasm Hematologic neoplasm haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs766047383 RCV000490465	971	F>missing	Hereditary diffuse leukoencephalopathy with spheroids [ClinVar]	Yes	ClinVar dbSNP
rs1423228852 CA361740401	6	L>P		No	ClinGen gnomAD
rs1351989543 CA361740396	7	L>M		No	ClinGen gnomAD
CA3507321 rs577425911	7	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA3507319 rs745892752	11	V>M		No	ClinGen ExAC gnomAD
CA361740319 rs1183763649	12	A>V		No	ClinGen gnomAD
rs774289908 CA3507318	14	A>V		No	ClinGen ExAC gnomAD
rs1268162180 CA361740263	16	H>Y		No	ClinGen gnomAD
rs757795589 CA3507291	21	P>S		No	ClinGen ExAC TOPMed gnomAD
CA129078359 rs757795589	21	P>T		No	ClinGen ExAC TOPMed gnomAD
CA3507290 rs749946644	23	I>T		No	ClinGen ExAC gnomAD
rs1188913271 CA361737872	26	S>N		No	ClinGen gnomAD
rs1242725773 CA361737856	27	V>I		No	ClinGen gnomAD
rs148727692 CA3507285	29	E>K		No	ClinGen ESP ExAC gnomAD
rs56048668 CA129078288	32	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3507282 COSM1435146 COSM1435147 rs372210450	32	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA361737744 rs1229562677	33	K>N		No	ClinGen gnomAD
CA361737730 rs1381683092	34	P>L		No	ClinGen gnomAD
CA361737719 rs1397361181	35	G>A		No	ClinGen gnomAD
CA361737727 rs1331779557	35	G>R		No	ClinGen TOPMed gnomAD
rs139635308 CA361737689	37	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3507280 rs139635308 COSM1130832 COSM1130831	37	T>M	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3507278 rs777239066	41	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA361737617 rs1221129051	42	C>R		No	ClinGen TOPMed gnomAD
rs147408195 CA3507277	44	G>S		No	ClinGen ESP ExAC
rs774944970 CA3507275	47	S>G		No	ClinGen ExAC gnomAD
CA361737165 rs1256984931	48	V>M		No	ClinGen gnomAD
CA3507272 rs778380548	49	E>D		No	ClinGen ExAC gnomAD
CA3507273 rs745585475	49	E>K		No	ClinGen ExAC TOPMed gnomAD
rs756809440 CA3507271	50	W>C		No	ClinGen ExAC gnomAD
rs1561940695 CA361737085	50	W>L		No	ClinGen Ensembl
CA361737046 rs1206393347	51	D>E		No	ClinGen TOPMed gnomAD
CA3507270 rs144261133	52	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3507269 rs777789969	53	P>L		No	ClinGen ExAC gnomAD
CA361737007 rs1433299442	53	P>S		No	ClinGen gnomAD
rs752543190 CA361736954	54	P>Q		No	ClinGen ExAC gnomAD
rs752543190 CA3507267	54	P>R		No	ClinGen ExAC gnomAD
rs755808680 CA3507268	54	P>S		No	ClinGen ExAC TOPMed gnomAD
CA129078252 rs755808680	54	P>T		No	ClinGen ExAC TOPMed gnomAD
CA361736842 rs1305733768	57	H>Q		No	ClinGen gnomAD
rs767283490 CA3507263	58	W>R		No	ClinGen ExAC TOPMed gnomAD
CA361736734 rs1308547474	60	L>P		No	ClinGen TOPMed gnomAD
CA3507262 rs55865465	60	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM420833 CA361736722 COSM420834 rs1423864756	61	Y>H	large_intestine urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3507260 rs765380617	62	S>C		No	ClinGen ExAC gnomAD
CA3507258 rs141621829	63	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA361736585 rs1369244827	64	G>A		No	ClinGen TOPMed gnomAD
CA361736576 rs1369244827	64	G>D		No	ClinGen TOPMed gnomAD
CA361736589 rs1369244827	64	G>V		No	ClinGen TOPMed gnomAD
rs760878957 CA3507256	66	S>G		No	ClinGen ExAC TOPMed gnomAD
rs536423346 CA3507255	66	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147989288 CA3507254	67	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA361736429 rs1288193831	68	I>T		No	ClinGen gnomAD
rs1259778590 CA361736382	71	T>N		No	ClinGen gnomAD
CA3507251 rs770380006	71	T>S		No	ClinGen ExAC gnomAD
rs1351811725 CA361736350	73	N>D		No	ClinGen gnomAD
rs756076440 CA3507248	74	A>T		No	ClinGen ExAC TOPMed gnomAD
CA361736293 rs1325333723	75	T>A		No	ClinGen TOPMed gnomAD
CA361736302 rs1325333723	75	T>S		No	ClinGen TOPMed gnomAD
CA361736230 rs1487923086	77	Q>E		No	ClinGen TOPMed
rs1014062385 CA361736170	79	T>A		No	ClinGen gnomAD
rs1414323194 CA361736163	79	T>R		No	ClinGen gnomAD
rs1014062385 CA129078175	79	T>S		No	ClinGen gnomAD
CA3507241 rs753954924	83	R>C		No	ClinGen ExAC TOPMed gnomAD
rs761230419 CA3507240	83	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3507239 rs761230419	83	R>L		No	ClinGen ExAC TOPMed gnomAD
rs753954924 CA3507242	83	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1402591976 CA361736016	85	T>S		No	ClinGen TOPMed
rs767836397 CA3507237	86	E>D		No	ClinGen ExAC gnomAD
rs775908212 CA3507238	86	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA3507233 rs762581670	91	L>R		No	ClinGen ExAC gnomAD
CA3507232 rs772767792	93	G>S		No	ClinGen ExAC
CA361735719 rs1437040009	95	A>T		No	ClinGen TOPMed gnomAD
CA361735696 COSM310356 COSM310355 rs1318254419	96	A>T	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1391078471 CA361735650	97	I>N		No	ClinGen gnomAD
CA361735555 rs1284272648	100	Y>H		No	ClinGen TOPMed
rs746809994 CA361735479	102	K>R		No	ClinGen ExAC gnomAD
rs746809994 CA3507227	102	K>T		No	ClinGen ExAC gnomAD
CA361735203 rs1561939495	103	D>E		No	ClinGen Ensembl
rs971881879 CA129077709	104	P>R		No	ClinGen TOPMed
CA3507207 rs749493932	105	A>T		No	ClinGen ExAC gnomAD
CA3507206 rs138794488	105	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3507204 rs535129002	106	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1448806718 CA361735085	107	P>S		No	ClinGen gnomAD
COSM396118 rs1350482816 COSM396117 CA361734974	109	N>S	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA361734946 COSM1249169 rs1432099970 COSM1249168	110	V>M	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3507202 rs755465229	111	L>I		No	ClinGen ExAC TOPMed gnomAD
CA361734911 rs1164464151	111	L>P		No	ClinGen gnomAD
CA3507201 rs752112146	114	E>D		No	ClinGen ExAC gnomAD
rs1032987693 CA129077655	118	F>L		No	ClinGen TOPMed gnomAD
rs750046493 CA129077651	118	F>L		No	ClinGen ExAC TOPMed gnomAD
CA361734692 rs1561939362	119	E>Q		No	ClinGen Ensembl
CA361734596 rs1264662280	120	D>E		No	ClinGen gnomAD
rs1219077311 CA361734549	121	Q>R		No	ClinGen gnomAD
CA361734462 rs140924076	123	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140924076 CA3507194	123	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM310353 COSM310354 rs761316359 CA3507196	123	A>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs140924076 CA3507195	123	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361734423 rs1244467205	125	L>M		No	ClinGen gnomAD
rs773417438 CA3507190	131	D>E		No	ClinGen ExAC TOPMed gnomAD
CA3507188 rs769905192	132	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1456318164 CA361734206	134	L>P		No	ClinGen gnomAD
CA3507185 COSM1645516 COSM1645517 rs755093010	138	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3507183 rs569441099	139	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3507184 rs569441099	139	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361734070 rs1189317059	141	V>M		No	ClinGen gnomAD
COSM1202373 rs147811334 CA3507181 COSM1202372	142	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA3507180 rs532877119	142	R>H		No	ClinGen 1000Genomes ExAC gnomAD
COSM1064275 COSM1064276 CA361733981 rs1214590308	144	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3507179 rs765232439 COSM243867 COSM243868	144	R>H	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA361733936 rs1266374160	146	R>Q		No	ClinGen gnomAD
CA361733888 rs1334700825	148	L>F		No	ClinGen TOPMed
CA3507178 rs374166176	150	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs144404275 CA3507177	153	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs901809745 CA129077582	153	N>S		No	ClinGen gnomAD
CA361733675 rs1581322257	154	Y>S		No	ClinGen Ensembl
COSM3941187 CA3507174 COSM3941186 rs148673905	157	S>L	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3507172 rs774005430	158	P>L		No	ClinGen ExAC gnomAD
rs770810316 CA3507171	160	H>Y		No	ClinGen ExAC gnomAD
CA361733419 rs1173881997	162	F>L		No	ClinGen gnomAD
rs776871942 CA3507169	163	T>A		No	ClinGen ExAC TOPMed gnomAD
CA361733396 rs776871942	163	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1240683875 CA361733360	164	I>V		No	ClinGen TOPMed
CA361733284 rs1464650297	167	A>S		No	ClinGen gnomAD
CA129077508 rs1049244804	170	I>L		No	ClinGen Ensembl
CA3507165 rs758823642	174	D>V		No	ClinGen ExAC TOPMed gnomAD
rs971552535 CA129077469	177	C>*		No	ClinGen TOPMed gnomAD
rs779121430 CA3507163	178	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1228085120 CA361732915	178	S>N		No	ClinGen TOPMed gnomAD
CA361732911 rs1228085120	178	S>T		No	ClinGen TOPMed gnomAD
CA361732898 rs1362664764	179	A>T		No	ClinGen gnomAD
CA3507162 rs757733975	180	L>V		No	ClinGen ExAC gnomAD
CA3507161 rs753500118	182	G>C		No	ClinGen ExAC gnomAD
CA3507159 rs755627444	184	R>G		No	ClinGen ExAC TOPMed gnomAD
rs143941779 CA129077435	184	R>T		No	ClinGen ESP
CA361732715 rs752144106	186	V>L		No	ClinGen ExAC TOPMed gnomAD
rs752144106 CA3507158	186	V>M		No	ClinGen ExAC TOPMed gnomAD
CA361732587 rs1424972902	189	I>M		No	ClinGen TOPMed
rs751557861 CA3507156	192	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3507155 rs751557861	192	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs767113303 COSM1064273 COSM1064272 CA3507157	192	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1554103835 CA361732340 RCV000519164	198	V>F		No	ClinGen ClinVar Ensembl dbSNP
CA3507131 rs545394093	199	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1561936512 CA361730518	200	P>S		No	ClinGen Ensembl
CA3507130 rs759685769	201	G>A		No	ClinGen ExAC gnomAD
rs1161693014 CA361730505	201	G>R		No	ClinGen TOPMed gnomAD
CA129075884 rs896445534	202	P>S		No	ClinGen TOPMed
rs370894971 CA3507129	203	P>S		No	ClinGen ESP ExAC gnomAD
rs201523105 CA3507128	204	A>P		No	ClinGen 1000Genomes ExAC gnomAD
CA361730412 rs1471920334	207	L>V		No	ClinGen gnomAD
rs749868108 CA3507127	208	V>L		No	ClinGen ExAC gnomAD
rs747714426 CA3507124	210	A>E		No	ClinGen ExAC TOPMed gnomAD
CA361730368 rs1263399030	211	E>K		No	ClinGen Ensembl
CA3507122 rs754385244	212	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs780917896 CA3507123	212	L>V		No	ClinGen ExAC gnomAD
rs746530522 CA3507121	213	V>M		No	ClinGen ExAC TOPMed gnomAD
rs758322216 COSM1435135 COSM1435134 CA3507119	216	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3507118 RCV000415068 rs750413238	216	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs764988673 CA3507117	219	A>D		No	ClinGen ExAC TOPMed gnomAD
CA3507116 RCV001090378 rs757109045	220	A>T		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA3507115 rs752816265	220	A>V		No	ClinGen ExAC gnomAD
rs759716223 CA3507114	222	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1410185875 CA361730298	223	V>A		No	ClinGen gnomAD
CA3507113 rs759467764	223	V>M		No	ClinGen ExAC TOPMed gnomAD
rs774569060 CA3507112	226	A>S		No	ClinGen ExAC gnomAD
CA129075794 rs912787749	227	S>N		No	ClinGen TOPMed
CA3507110 rs149911279	229	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361730196 rs1201428534	230	D>E		No	ClinGen gnomAD
CA129075793 rs987204580	230	D>G		No	ClinGen Ensembl
rs1247024506 CA361730136	234	D>A		No	ClinGen gnomAD
CA361730140 rs1454473722	234	D>Y		No	ClinGen gnomAD
rs1465872803 CA361730115	235	V>G		No	ClinGen gnomAD
CA3507108 rs770232434	237	L>F		No	ClinGen ExAC gnomAD
CA3507104 rs746693381	240	N>D		No	ClinGen ExAC
rs555886698 CA361730011	241	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3507101 rs555886698	241	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361729996 rs1297158711	242	T>A		No	ClinGen gnomAD
rs777593728 CA3507078	244	L>F		No	ClinGen ExAC gnomAD
rs758482689 CA3507074	246	I>T		No	ClinGen ExAC gnomAD
CA129075091 rs17855673	247	P>H		No	ClinGen Ensembl
CA361729777 rs1411349452	247	P>S		No	ClinGen gnomAD
rs779105211 CA361729741	248	Q>H		No	ClinGen gnomAD
CA361729695 rs1581317644	250	S>A		No	ClinGen Ensembl
rs897288636 CA129075082	251	D>A		No	ClinGen Ensembl
rs765287563 CA3507071	254	N>D		No	ClinGen ExAC gnomAD
rs1163155801 CA361729569	254	N>S		No	ClinGen TOPMed
CA361729547 rs146406037	255	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1064263 CA3507068 COSM1064264 rs764483518	256	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs200702302 CA3507067	256	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA3507065 rs771718968	261	L>V		No	ClinGen ExAC gnomAD
rs1273955828 CA361729382	262	T>N		No	ClinGen gnomAD
rs759253407 CA3507064	263	L>F		No	ClinGen ExAC TOPMed gnomAD
rs141512698 CA129075056	264	N>H		No	ClinGen ESP
rs1354335625 CA361729300	265	L>P		No	ClinGen gnomAD
rs148357861 CA3507060	266	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA361729242 rs1350384812	267	Q>H		No	ClinGen gnomAD
rs937043276 CA129075033	269	D>E		No	ClinGen TOPMed gnomAD
CA129075039 rs762188791	269	D>G		No	ClinGen Ensembl
rs747958886 CA3507058	269	D>Y		No	ClinGen ExAC gnomAD
CA3507056 rs758675858	274	G>S		No	ClinGen ExAC gnomAD
rs3829986 CA3507054	279	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3507052 rs754325326	280	A>S		No	ClinGen ExAC gnomAD
CA3507050 rs375148574	283	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA361728670 rs1221149937	285	G>D		No	ClinGen TOPMed gnomAD
rs928018985 CA129074964	285	G>S		No	ClinGen TOPMed
rs753056795 CA3507049	288	S>P		No	ClinGen ExAC gnomAD
rs1561934537 CA361728434	291	M>I		No	ClinGen Ensembl
rs777544184 CA129074956	291	M>V		No	ClinGen Ensembl
CA3507046 rs371848144	294	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA3507043 rs773133076	295	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3506991 rs781314536	299	A>V		No	ClinGen ExAC TOPMed gnomAD
CA129070631 rs1017429420	307	Q>E		No	ClinGen Ensembl
CA3506989 rs747597752	308	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1398294489 CA361725175	309	L>F		No	ClinGen gnomAD
CA361725142 rs1462650029	310	I>N		No	ClinGen gnomAD
CA361725137 rs1462650029	310	I>S		No	ClinGen gnomAD
CA129070600 rs756763314	315	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3506980 rs752720838	316	G>E		No	ClinGen ExAC gnomAD
rs760509901 CA3506981	316	G>R		No	ClinGen ExAC gnomAD
rs899143318 CA361724939	317	E>D		No	ClinGen gnomAD
CA361724931 rs1196040337	318	G>R		No	ClinGen gnomAD
rs759387562 CA129070554	320	N>K		No	ClinGen ExAC gnomAD
CA361724828 rs1287668240	323	V>I		No	ClinGen gnomAD
CA3506976 rs769997344	324	M>I		No	ClinGen ExAC
rs1484396202 CA361724794	324	M>T		No	ClinGen TOPMed gnomAD
rs1236706738 CA361724765	325	V>G		No	ClinGen TOPMed gnomAD
CA3506975 rs762078544	327	A>S		No	ClinGen ExAC gnomAD
CA3506972 rs747430864	337	T>I		No	ClinGen ExAC gnomAD
CA361724527 rs1469011087	344	D>N		No	ClinGen gnomAD
rs138251519 CA3506970	345	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA361724507 rs1432308772	346	Q>H		No	ClinGen gnomAD
CA3506969 rs753379219	346	Q>P		No	ClinGen ExAC gnomAD
CA129070501 rs753379219	346	Q>R		No	ClinGen ExAC gnomAD
rs1215117792 CA361724496	348	E>G		No	ClinGen TOPMed gnomAD
rs779489294 CA3506968	348	E>K		No	ClinGen ExAC gnomAD
rs1203334493 CA361724489	349	P>L		No	ClinGen gnomAD
rs756959788 CA3506967	349	P>S		No	ClinGen ExAC gnomAD
CA361724493 rs756959788	349	P>T		No	ClinGen ExAC gnomAD
CA3506965 rs777119400	352	A>S		No	ClinGen ExAC TOPMed gnomAD
CA129070482 rs17854479	354	A>V		No	ClinGen Ensembl
rs752528521 CA3506963	355	T>N		No	ClinGen ExAC gnomAD
rs767475362 CA129070479	357	K>*		No	ClinGen Ensembl
CA3506962 rs767493560 COSM280144 COSM280143	360	Y>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361724415 rs1443294435	361	R>K		No	ClinGen gnomAD
rs1272581720 CA361722739	362	H>Y		No	ClinGen TOPMed gnomAD
rs1341604312 CA361722668	363	T>I		No	ClinGen TOPMed gnomAD
rs1341604312 CA361722676	363	T>N		No	ClinGen TOPMed gnomAD
rs1581307786 CA361722695	363	T>P		No	ClinGen Ensembl
CA361722606 rs1270799832	365	T>I		No	ClinGen gnomAD
rs1581307772 CA361722623	365	T>P		No	ClinGen Ensembl
rs1233258528 CA361722577	366	L>F		No	ClinGen gnomAD
rs568352098 CA3506943	367	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA129069464 rs867779646	367	S>P		No	ClinGen TOPMed
rs1315261761 COSM1696553 CA361722458 COSM1696554	370	R>C	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
COSM1064260 rs1415767125 COSM1064261 CA361722457	370	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA361722452 rs1415767125	370	R>L		No	ClinGen gnomAD
CA361722460 rs1315261761	370	R>S		No	ClinGen TOPMed gnomAD
rs373828759 CA3506940	375	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361722274 rs1476493794	376	A>T		No	ClinGen gnomAD
rs570645140 RCV001090377 CA3506937	378	R>C		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs570645140 CA361722214	378	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1419926665 CA361722211	378	R>H		No	ClinGen gnomAD
rs183264626 CA129069444	381	F>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs1230928599 CA361722148	381	F>L		No	ClinGen gnomAD
CA361722033 rs1273847910	386	P>L		No	ClinGen TOPMed gnomAD
CA361721994 rs1295841965	389	W>*		No	ClinGen TOPMed
rs1213135908 CA361721953	391	A>T		No	ClinGen gnomAD
CA3506935 rs775629759	393	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1234365943 CA361721863	396	L>F		No	ClinGen gnomAD
CA361721846 rs1206203991	397	T>A		No	ClinGen gnomAD
CA3506933 rs760090380	398	L>I		No	ClinGen ExAC
CA361721823 rs1307175724	399	R>G		No	ClinGen TOPMed
rs775029262 CA361721817	399	R>L		No	ClinGen ExAC TOPMed gnomAD
rs775029262 CA3506932	399	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3506931 rs771375056	400	Y>H		No	ClinGen ExAC gnomAD
RCV000512701 CA361721730 rs1554102860	401	P>L		No	ClinGen ClinVar Ensembl dbSNP
rs1255014994 CA361721741	401	P>S		No	ClinGen TOPMed gnomAD
rs771986599 CA3506903	403	E>G		No	ClinGen ExAC gnomAD
CA3506900 rs757033979	407	I>M		No	ClinGen ExAC gnomAD
CA129069248 rs984334332	408	W>R		No	ClinGen TOPMed
CA3506899 rs752915211	409	T>S		No	ClinGen ExAC gnomAD
rs751675713 CA3506896	413	G>V		No	ClinGen ExAC TOPMed gnomAD
rs149753251 CA361721556	414	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3506894 rs149753251	414	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs766613030 CA3506895	414	S>P		No	ClinGen ExAC gnomAD
rs926797716 CA129069218	416	T>I		No	ClinGen TOPMed
rs1341370484 CA361721541	416	T>P		No	ClinGen TOPMed
rs1341370484 CA361721539	416	T>S		No	ClinGen TOPMed
rs750922001 CA3506893	417	L>I		No	ClinGen ExAC gnomAD
CA129069202 rs377101581	420	A>S		No	ClinGen Ensembl
CA361721443 rs1277213171	424	Y>C		No	ClinGen TOPMed
CA361721444 rs1277213171	424	Y>S		No	ClinGen TOPMed
rs545534658 CA361721367	428	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs140815605 CA3506892	428	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3506890 rs776196303	429	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1428002377 CA361721317	431	W>*		No	ClinGen gnomAD
rs771614491 CA3506886	439	D>A		No	ClinGen ExAC TOPMed gnomAD
CA3506887 rs774962435	439	D>N		No	ClinGen ExAC gnomAD
rs1256237050 CA361721093	440	R>K		No	ClinGen TOPMed gnomAD
CA3506864 rs773109201	441	C>S		No	ClinGen ExAC gnomAD
CA129069057 rs879792396	442	D>E		No	ClinGen gnomAD
COSM420835 rs769742792 CA3506863 COSM420836	443	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361720845 rs1322858120	447	L>P		No	ClinGen TOPMed
CA3506862 rs747178356	449	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1163445788 CA361720785	451	D>V		No	ClinGen gnomAD
rs1463432282 COSM1435129 CA361720748	454	Y>C	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1224516781 CA361720758	454	Y>H		No	ClinGen gnomAD
CA361720752 rs1463432282	454	Y>S		No	ClinGen gnomAD
CA3506860 rs758434386	455	P>L		No	ClinGen ExAC gnomAD
rs1417007209 CA361720691	456	E>D		No	ClinGen gnomAD
CA361720686 rs541829678	457	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs541829678 CA3506859	457	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA361720572 rs941823186	461	E>D		No	ClinGen TOPMed gnomAD
rs1178794165 CA361720594	461	E>K		No	ClinGen gnomAD
rs1236366707 CA361720564	462	P>S		No	ClinGen TOPMed
rs1467661970 CA361720503	464	H>Q		No	ClinGen gnomAD
CA3506858 rs779109656	466	V>G		No	ClinGen ExAC gnomAD
rs1215536080 CA361720446	467	T>A		No	ClinGen gnomAD
COSM1634062 rs376388107 CA3506857 COSM1634063	467	T>M	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs376388107 CA129069014	467	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1194343368 CA361720389	469	Q>R		No	ClinGen TOPMed
CA3506852 rs191994354 RCV000415805	474	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM482337 rs1581306444 CA361720262	475	E>D	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
CA129068992 rs868679766	476	T>A		No	ClinGen Ensembl
CA361720172 rs1161506611	477	L>S		No	ClinGen TOPMed
CA3506850 rs759301512	478	E>Q		No	ClinGen ExAC gnomAD
CA361720142 rs1364571017	479	H>N		No	ClinGen TOPMed
CA3506849 rs773709407	479	H>P		No	ClinGen ExAC gnomAD
CA361720092 rs917027829	481	Q>K		No	ClinGen Ensembl
rs374872712 CA3506848	481	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1452088406 CA361720010	484	E>Q		No	ClinGen gnomAD
CA3506846 rs773304095	486	R>G		No	ClinGen ExAC TOPMed gnomAD
rs769650049 CA3506845	488	H>R		No	ClinGen ExAC gnomAD
CA361719909 rs1561924489	488	H>Y		No	ClinGen Ensembl
rs576921324 CA3506843	491	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776553377 CA3506842	493	S>R		No	ClinGen ExAC TOPMed gnomAD
CA3506841 rs772168972	494	G>S		No	ClinGen ExAC gnomAD
rs958142868 CA129068941	495	S>F		No	ClinGen TOPMed
CA3506840 rs746152726	497	A>T		No	ClinGen ExAC gnomAD
CA361719610 rs1352617253	498	F>L		No	ClinGen gnomAD
CA3506839 rs544729900	499	I>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1308753349 CA361719578	499	I>L		No	ClinGen TOPMed
rs757362705 CA3506838	501	I>V		No	ClinGen ExAC gnomAD
rs1347390744 CA361719511	503	A>S		No	ClinGen gnomAD
rs1438687407 CA361719483	504	G>R		No	ClinGen gnomAD
rs1459787722 CA361718522	505	A>V		No	ClinGen gnomAD
CA3506795 rs142543645	506	H>P		No	ClinGen ExAC TOPMed gnomAD
CA361718427 rs1459171593 COSM362971 COSM362970	509	P>L	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3506793 rs781728817	509	P>S		No	ClinGen ExAC gnomAD
CA3506792 rs139203165	510	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3506791 rs546270503	510	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758099558 CA3506789	511	D>A		No	ClinGen ExAC gnomAD
CA361718400 rs1292557169	511	D>H		No	ClinGen gnomAD
CA129067887 rs867901555	514	L>F		No	ClinGen Ensembl
rs370585355 CA3506788	514	L>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs201012043 CA3506787	516	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA3506786 rs138432536	518	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375827793 CA3506785	519	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs752524761 CA3506782	520	V>F		No	ClinGen ExAC gnomAD
rs922217237 CA129067852	521	A>G		No	ClinGen Ensembl
rs763119382 CA3506780	521	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1157109001 CA361718124	522	C>Y		No	ClinGen gnomAD
CA3506779 rs773444332	523	M>L		No	ClinGen ExAC gnomAD
rs761956322 CA3506777	526	M>L		No	ClinGen ExAC gnomAD
rs1561922044 CA361717942	528	L>S		No	ClinGen Ensembl
rs1235972728 CA361717903	530	L>P		No	ClinGen TOPMed
rs1581303366 CA361717844	533	L>P		No	ClinGen Ensembl
rs143156748 CA3506774	535	L>M		No	ClinGen ESP ExAC gnomAD
CA3506771 rs775963737	537	L>F		No	ClinGen ExAC gnomAD
CA3506770 rs772598059	539	K>T		No	ClinGen ExAC gnomAD
CA3506750 rs770605687	544	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1478368741 CA361714768	546	Y>*		No	ClinGen gnomAD
rs748943575 CA3506749	547	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA129062644 rs748943575	547	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1484013873 CA361714760	547	Q>H		No	ClinGen gnomAD
COSM1243183 CA361714763 COSM1243184 rs1179809363	547	Q>R	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs371219353 CA3506748	548	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3506747 COSM1064258 rs370624765	549	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA3506746 rs573212436	549	R>H		No	ClinGen ExAC gnomAD
rs1757544635 RCV001268354	550	W>*		No	ClinVar dbSNP
rs1219122867 CA361714733	550	W>C		No	ClinGen gnomAD
rs781108577 CA3506745	550	W>R		No	ClinGen ExAC gnomAD
rs1192985347 CA361714730	551	K>E		No	ClinGen TOPMed
rs779762340 CA3506742	554	E>K		No	ClinGen ExAC TOPMed gnomAD
CA361714643 COSM1064254 rs1303583848 COSM1064255	557	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs370659554 CA3506740	561	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs370659554 CA129062622	561	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1173478824 CA361714563	562	T>I		No	ClinGen TOPMed gnomAD
rs1173478824 CA361714567	562	T>N		No	ClinGen TOPMed gnomAD
CA361714551 rs1440607051	563	F>V		No	ClinGen TOPMed
CA129062618 rs776080183	564	I>S		No	ClinGen TOPMed
rs776080183 CA361714500	564	I>T		No	ClinGen TOPMed
CA129062612 rs960200814	565	D>N		No	ClinGen TOPMed
CA3506737 COSM737252 rs753189846 COSM737251	566	P>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA129062607 rs900723354	567	T>A		No	ClinGen Ensembl
CA3506736 rs41529644	567	T>M		No	ClinGen ExAC TOPMed gnomAD
CA361714388 rs1465213270	569	L>M		No	ClinGen TOPMed
rs762628391 CA3506732	570	P>T		No	ClinGen ExAC gnomAD
rs1234517590 CA361714340	572	N>D		No	ClinGen gnomAD
CA361714326 rs772750557	572	N>K		No	ClinGen ExAC TOPMed gnomAD
CA361714335 rs1334063870	572	N>T		No	ClinGen gnomAD
rs376280561 CA3506730	573	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA346100 rs690016563	582	L>P		No	ClinGen Ensembl
rs1333415614 CA361714237	582	L>V		No	ClinGen gnomAD
CA3506695 rs146386843	587	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361714193 rs1398547212	587	T>S		No	ClinGen gnomAD
RCV000998470 CA361714112 rs1581291256	599	A>V		No	ClinGen ClinVar Ensembl dbSNP
CA3506692 rs200788902	600	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3506690 rs763534411	604	L>M		No	ClinGen ExAC gnomAD
CA361714075 rs1422850617	606	K>E		No	ClinGen gnomAD
CA361714076 rs1422850617	606	K>Q		No	ClinGen gnomAD
rs868756502 CA129062333	606	K>R		No	ClinGen Ensembl
CA361714062 rs760109569	607	E>D		No	ClinGen ExAC gnomAD
rs1478700727 CA361714056	608	D>A		No	ClinGen gnomAD
rs1318296990 CA361714053	609	A>T		No	ClinGen gnomAD
rs775134173 CA3506688	610	V>I		No	ClinGen ExAC gnomAD
CA361713959 rs746302520	621	T>K		No	ClinGen ExAC TOPMed gnomAD
rs746302520 CA3506648	621	T>M		No	ClinGen ExAC TOPMed gnomAD
CA3506645 rs754190138	622	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1228572300 CA361713929	626	E>K		No	ClinGen gnomAD
rs943493417 CA129061717	627	K>E		No	ClinGen TOPMed gnomAD
CA129061709 rs910551974	628	E>A		No	ClinGen TOPMed gnomAD
rs1376939838 CA361713906	629	A>D		No	ClinGen gnomAD
CA3506643 rs17854478	629	A>S		No	ClinGen ExAC TOPMed gnomAD
rs690016547 CA346067	630	L>R		No	ClinGen Ensembl
CA3506640 rs759102831	631	M>I		No	ClinGen ExAC gnomAD
rs766891047 CA3506641	631	M>T		No	ClinGen ExAC gnomAD
rs1441662220 CA361713868	635	K>N		No	ClinGen gnomAD
rs541530647 CA129061683	638	S>T		No	ClinGen TOPMed gnomAD
CA3506637 rs763029749	642	Q>*		No	ClinGen ExAC gnomAD
rs371692872 CA3506635	644	E>K		No	ClinGen ExAC TOPMed gnomAD
rs771977143 CA3506631	647	V>I		No	ClinGen ExAC TOPMed gnomAD
rs745945087 CA3506630	648	N>S		No	ClinGen ExAC gnomAD
CA361713741 rs1275309683	654	T>I		No	ClinGen TOPMed gnomAD
CA129061623 rs956067205	655	H>R		No	ClinGen TOPMed gnomAD
rs1483961692 CA361762396	657	G>D		No	ClinGen gnomAD
rs777963695 CA3506626	657	G>R		No	ClinGen ExAC gnomAD
CA3506610 rs561789602	658	P>H		No	ClinGen 1000Genomes ExAC gnomAD
rs773785340 CA3506608	659	V>A		No	ClinGen ExAC
rs769989694 CA3506607	661	V>I		No	ClinGen ExAC gnomAD
CA3506605 rs200489778	663	T>M		No	ClinGen 1000Genomes ExAC gnomAD
CA3506603 rs746687451	664	E>V		No	ClinGen ExAC gnomAD
COSM3697071 CA361762224 COSM3697070 rs1392968737	670	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs757995511 CA3506601	672	L>H		No	ClinGen ExAC TOPMed gnomAD
rs750317645 CA3506600	673	N>T		No	ClinGen ExAC gnomAD
CA129106240 rs1006338912	676	R>Q		No	ClinGen Ensembl
CA361762082 rs1316136594	678	K>Q		No	ClinGen TOPMed gnomAD
rs1333874350 CA361762076	678	K>T		No	ClinGen gnomAD
rs982965420 CA129106224	680	E>D		No	ClinGen TOPMed
CA3506599 rs765214576	681	A>V		No	ClinGen ExAC gnomAD
rs757201384 CA3506598	682	M>V		No	ClinGen ExAC gnomAD
rs368661705 CA3506597	683	L>P		No	ClinGen ESP ExAC TOPMed
rs150668652 CA3506595	684	G>E		No	ClinGen ESP ExAC gnomAD
CA361761987 rs763835789	684	G>R		No	ClinGen ExAC gnomAD
CA3506596 rs763835789	684	G>R		No	ClinGen ExAC gnomAD
rs1581287127 CA361761975	685	P>A		No	ClinGen Ensembl
rs141866247 CA129106201	690	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3506592 rs141866247	690	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3506589 rs748641028	691	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA3506590 rs564070549	691	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA361761863 rs1315927856	692	D>E		No	ClinGen gnomAD
rs1361838453 CA361761877	692	D>N		No	ClinGen gnomAD
rs545858226 CA3506587	694	E>K		No	ClinGen 1000Genomes ExAC TOPMed
rs545858226 CA129106174	694	E>Q		No	ClinGen 1000Genomes ExAC TOPMed
CA3506583 rs758189628	697	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3506581 rs778336583	698	D>N		No	ClinGen ExAC TOPMed gnomAD
rs757190410 CA3506580	699	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA3506579 rs753750318	700	K>E		No	ClinGen ExAC gnomAD
rs777496689 CA3506578	703	H>R		No	ClinGen ExAC gnomAD
rs111943087 CA129106127	703	H>Y		No	ClinGen gnomAD
rs763207378 CA3506574	705	E>A		No	ClinGen ExAC gnomAD
rs766586864 CA3506575	705	E>K		No	ClinGen ExAC gnomAD
rs1432517640 CA361761612	706	K>E		No	ClinGen gnomAD
CA3506573 rs771145383	706	K>R		No	ClinGen ExAC gnomAD
rs765259030 CA3506572	707	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1395424663 CA361761563	708	Y>H		No	ClinGen TOPMed
CA3506571 rs762329575	710	R>C		No	ClinGen ExAC gnomAD
CA129104416 rs772656669	712	D>E		No	ClinGen TOPMed gnomAD
rs748747560 CA3506540	712	D>G		No	ClinGen ExAC TOPMed gnomAD
CA3506538 rs769685450	716	S>F		No	ClinGen ExAC gnomAD
rs748111236 CA3506537	717	S>R		No	ClinGen ExAC
rs780914237 CA3506536	717	S>T		No	ClinGen ExAC gnomAD
rs746033718 CA3506534	718	Q>P		No	ClinGen ExAC
rs1581282464 CA361760745	720	V>A		No	ClinGen Ensembl
CA3506529 rs142978503	723	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1021454741 CA129104378	725	E>G		No	ClinGen TOPMed gnomAD
COSM420837 rs899883054 COSM420838 CA129104373	726	M>I	urinary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
CA129104374 rs756649081	726	M>R		No	ClinGen ExAC gnomAD
CA3506528 rs756649081	726	M>T		No	ClinGen ExAC gnomAD
rs1240901881 CA361760636	727	R>K		No	ClinGen TOPMed
CA3506527 rs753281770	728	P>A		No	ClinGen ExAC gnomAD
CA361760615 rs753281770	728	P>S		No	ClinGen ExAC gnomAD
CA361760613 rs753281770	728	P>T		No	ClinGen ExAC gnomAD
CA129104358 rs1041149647	729	V>A		No	ClinGen TOPMed
CA3506526 rs139061724	729	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA361760605 rs139061724	729	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1379743229 CA361760591	730	S>P		No	ClinGen gnomAD
rs774848316 CA3506524	731	T>N		No	ClinGen ExAC gnomAD
rs373427460 CA3506523	733	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1233878162 CA361760558	733	S>P		No	ClinGen gnomAD
rs777889423 CA3506520	735	D>E		No	ClinGen ExAC gnomAD
rs887139619 CA129104319	735	D>Y		No	ClinGen Ensembl
CA3506519 rs769312420	736	S>A		No	ClinGen ExAC gnomAD
CA3506518 rs748019030	736	S>Y		No	ClinGen ExAC gnomAD
CA3506516 RCV001090376 rs768704008	737	F>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1231057900 CA361760475	738	S>C		No	ClinGen TOPMed
rs199915312 CA3506513	739	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs746764799 CA3506515	739	E>K		No	ClinGen ExAC gnomAD
rs1326213963 CA361760347	743	D>Y		No	ClinGen Ensembl
rs1213727984 CA361760324	744	K>E		No	ClinGen TOPMed
CA3506495 rs369879651	745	E>Q		No	ClinGen ESP ExAC gnomAD
rs1270799934 CA361760276	746	D>G		No	ClinGen TOPMed
rs41355444 CA3506493	747	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3506491 rs748228488 RCV000982432	747	G>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3506489 rs755412466	748	R>Q		No	ClinGen ExAC gnomAD
CA3506490 rs781385572	748	R>W		No	ClinGen ExAC TOPMed gnomAD
CA129104076 rs373083937	749	P>S		No	ClinGen Ensembl
CA361760198 rs1561906977	751	E>V		No	ClinGen Ensembl
rs758764883 CA3506486	752	L>R		No	ClinGen ExAC TOPMed gnomAD
rs372068592 CA3506485	753	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1217793336 CA361760164	754	D>N		No	ClinGen gnomAD
CA361760159 rs1305510375	754	D>V		No	ClinGen gnomAD
CA3506479 rs775511069	757	H>Q		No	ClinGen ExAC gnomAD
CA3506480 COSM3941184 COSM3941185 rs542316497	757	H>Y	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs771928787 CA3506478	758	F>L		No	ClinGen ExAC gnomAD
CA361760073 rs1180235943	760	S>R		No	ClinGen gnomAD
CA3506477 rs759403025	761	Q>H		No	ClinGen ExAC gnomAD
rs1465450062 CA361759965	767	A>G		No	ClinGen gnomAD
CA3506476 rs774348652	767	A>T		No	ClinGen ExAC gnomAD
rs1561906792 RCV000762177 CA361759948	768	F>L		No	ClinGen ClinVar Ensembl dbSNP
COSM304314 CA3506474 rs281860271 COSM304315	770	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA361759920 rs1428742653	770	A>V		No	ClinGen gnomAD
rs781080752 CA361759881	772	K>N		No	ClinGen ExAC TOPMed gnomAD
CA346069 rs690016548	777	R>Q		No	ClinGen Ensembl
CA345024 rs397515556	777	R>W		No	ClinGen Ensembl
CA3506452 rs768825118	779	V>M		No	ClinGen ExAC gnomAD
rs587777247 CA346082	781	A>V		No	ClinGen Ensembl
rs281860281 RCV000488391 CA16621829	782	R>L		No	ClinGen ClinVar Ensembl dbSNP
rs690016564 CA346102	784	V>M		No	ClinGen Ensembl
CA361758953 rs1239030498	788	N>D		No	ClinGen gnomAD
rs1334523482 CA361758948	788	N>S		No	ClinGen TOPMed gnomAD
rs991336822 CA129102806	791	V>M		No	ClinGen Ensembl
rs1581280059 RCV000998469 CA361758920	792	A>D		No	ClinGen ClinVar Ensembl dbSNP
rs690016561 CA346096	793	K>T		No	ClinGen Ensembl
rs1209791630 CA361758884	798	G>R		No	ClinGen TOPMed
rs1406362483 CA361758837	803	I>V		No	ClinGen gnomAD
rs1265832673 CA361758819	804	M>I		No	ClinGen TOPMed
rs748825247 CA3506446	806	D>N		No	ClinGen ExAC gnomAD
CA361758785 rs1157519987	807	S>C		No	ClinGen gnomAD
CA361758779 rs1450929997	808	N>H		No	ClinGen gnomAD
rs1365494031 CA361758776	808	N>S		No	ClinGen gnomAD
rs1581279751 CA361758652	815	A>P		No	ClinGen Ensembl
rs1461255666 CA361758648	815	A>V		No	ClinGen gnomAD
CA361758641 rs1214473761	816	R>H		No	ClinGen TOPMed
CA346071 rs690016549	817	L>P		No	ClinGen Ensembl
CA16618138 rs690016549 RCV000479111	817	L>Q		No	ClinGen ClinVar Ensembl dbSNP
CA346098 rs690016562	823	A>V		No	ClinGen Ensembl
rs1757203198 RCV001171968	824	P>R		No	ClinVar dbSNP
rs690016550 CA346073	827	I>T		No	ClinGen Ensembl
rs780804532 CA3506422	833	T>M		No	ClinGen ExAC gnomAD
CA3506420 rs751178536	834	V>F		No	ClinGen ExAC gnomAD
CA361758439 rs751178536	834	V>I		No	ClinGen ExAC gnomAD
COSM1435123 rs690016557 COSM1435122 CA129102559	838	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs690016557 CA346088	838	V>L		No	ClinGen TOPMed
rs895002138 CA129102556	841	Y>H		No	ClinGen Ensembl
CA346084 rs690016555	843	I>N		No	ClinGen Ensembl
CA346075 rs690016551	847	E>D		No	ClinGen Ensembl
rs1374921783 CA361758283	848	I>M		No	ClinGen gnomAD
CA129102530 rs200284956	848	I>V		No	ClinGen Ensembl
rs690016565 CA346104	854	N>K		No	ClinGen ExAC TOPMed gnomAD
CA346077 rs690016552	856	Y>H		No	ClinGen Ensembl
rs868627491 CA129102023	856	Y>S		No	ClinGen Ensembl
rs758315126 CA3506402	862	N>D		No	ClinGen ExAC TOPMed gnomAD
CA129102013 rs934511080	863	S>N		No	ClinGen TOPMed gnomAD
rs139797829 CA129101999	867	K>Q		No	ClinGen ESP TOPMed gnomAD
RCV000416171 CA16043798 rs1057519156	869	V>G		No	ClinGen ClinVar Ensembl dbSNP
CA346086 rs690016556	877	Q>*		No	ClinGen Ensembl
rs757007320 CA3506399	877	Q>R		No	ClinGen ExAC gnomAD
rs932394822 CA129101922	879	A>T		No	ClinGen TOPMed
rs1404559225 CA361757819	879	A>V		No	ClinGen gnomAD
CA361757804 rs1198228729	880	F>S		No	ClinGen TOPMed
CA3506398 rs571742911	883	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA361757496 rs1220002967	885	I>M		No	ClinGen gnomAD
CA361757686 rs1455721054	885	I>V		No	ClinGen TOPMed
CA361757464 rs1268479936	888	I>V		No	ClinGen gnomAD
rs1432908196 CA361757398	891	A>G		No	ClinGen gnomAD
rs866905513 CA129101259	893	W>*		No	ClinGen Ensembl
CA361757344 rs1390027952	894	A>V		No	ClinGen gnomAD
CA346079 rs690016553 COSM310351 COSM310352	901	P>S	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1561901777 CA361757168	902	T>N		No	ClinGen Ensembl
rs1469965955 CA361757062	909	F>L		No	ClinGen TOPMed
CA361756992 rs1187766051	911	Q>*		No	ClinGen TOPMed gnomAD
rs201061537 CA129101253	912	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA361756969 rs1310707701	912	E>G		No	ClinGen gnomAD
CA3506372 rs376605798	913	Q>H		No	ClinGen ESP ExAC gnomAD
rs777093657 CA3506370	914	A>D		No	ClinGen ExAC gnomAD
CA361756942 rs549775847	914	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3506371 rs549775847	914	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3506369 rs142435467	916	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA361756875 rs775010082	919	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3506367 rs775010082	919	R>G		No	ClinGen ExAC TOPMed gnomAD
rs922508428 CA129101187	919	R>T		No	ClinGen TOPMed gnomAD
CA129101171 rs964312276	920	E>A		No	ClinGen TOPMed
rs200925061 CA3506366	920	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs56059682 CA3506362 VAR_042044 RCV000893554	921	R>Q		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA361756347 rs1369020823	922	D>E		No	ClinGen TOPMed gnomAD
CA361756333 rs1417120408	924	T>I		No	ClinGen gnomAD
rs1417120408 CA361756335	924	T>N		No	ClinGen gnomAD
CA361756330 rs1483978909	925	N>D		No	ClinGen TOPMed
CA129100968 rs924679612	926	L>P		No	ClinGen TOPMed
rs144414073 CA3506337	927	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs144414073 CA3506338	927	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3506335 rs757426806	928	S>N		No	ClinGen ExAC gnomAD
rs1391201688 CA361756300	930	S>G		No	ClinGen TOPMed
rs1220384597 CA361756291	931	R>K		No	ClinGen gnomAD
CA361756285 rs1489484104	932	S>G		No	ClinGen gnomAD
CA361756282 rs754030029	932	S>I		No	ClinGen ExAC gnomAD
CA3506334 rs754030029	932	S>N		No	ClinGen ExAC gnomAD
CA3506332 rs756684628	933	G>S		No	ClinGen ExAC TOPMed gnomAD
rs140118369 CA3506329	935	S>G		No	ClinGen ESP ExAC
rs537011691 CA3506326	936	G>S		No	ClinGen 1000Genomes TOPMed
rs751214166 CA3506325	937	S>G		No	ClinGen ExAC gnomAD
rs765814605 CA3506324	937	S>T		No	ClinGen ExAC gnomAD
rs1554101160 CA3506322	938	S>G		No	ClinGen Ensembl
rs1250111609 CA361756242	939	S>G		No	ClinGen gnomAD
CA3506311 rs761462650	941	E>D		No	ClinGen ExAC TOPMed gnomAD
CA361756227 rs1484584245	941	E>K		No	ClinGen TOPMed
rs1346813157 CA361756215	943	E>K		No	ClinGen gnomAD
CA3506309 rs761835712	944	E>K		No	ClinGen ExAC gnomAD
rs768503863 CA3506306	946	S>R		No	ClinGen ExAC gnomAD
rs746020749 CA3506305	947	S>C		No	ClinGen ExAC gnomAD
CA129100768 rs923332469	947	S>P		No	ClinGen TOPMed gnomAD
rs1205127061 CA361756176	948	S>I		No	ClinGen gnomAD
CA3506302 rs749347714	950	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA3506300 rs756527519	951	L>M		No	ClinGen ExAC TOPMed gnomAD
COSM29204 rs557980960 CA3506299	952	T>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs557980960 CA361756151	952	T>N		No	ClinGen 1000Genomes ExAC gnomAD
rs755380615 CA3506297	953	C>R		No	ClinGen ExAC gnomAD
rs751974904 CA3506296	953	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA3506295 rs766007425	954	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1379972794 CA361756140	954	C>Y		No	ClinGen gnomAD
rs200068110 CA3506293	955	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA361756119 rs1469140405	957	G>R		No	ClinGen TOPMed gnomAD
RCV000497696 rs764837673 CA3506292	958	D>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3506291 rs761591053	959	I>V		No	ClinGen ExAC gnomAD
CA361756102 COSM310349 rs1467770819 COSM310350	960	A>T	lung liver large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs776645465 CA3506290	960	A>V		No	ClinGen ExAC gnomAD
CA3506289 rs768534817	961	Q>*		No	ClinGen ExAC gnomAD
rs1561900665 CA361756070	965	Q>*		No	ClinGen Ensembl
CA361756052 rs1229684506	967	N>K		No	ClinGen TOPMed
CA3506287 rs775465143	968	N>S		No	ClinGen ExAC gnomAD
CA361756018 rs771254626	972	C>*		No	ClinGen ExAC TOPMed gnomAD
CA3506285 RCV001197110 rs771254626	972	C>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD

4 associated diseases with P07333

[MIM: 221820]: Leukoencephalopathy, hereditary diffuse, with spheroids 1 (HDLS1)

An autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes. {ECO:0000269|PubMed:22197934, ECO:0000269|PubMed:23408870, ECO:0000269|PubMed:24336230, ECO:0000269|PubMed:24532199}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 618476]: Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS)

An autosomal recessive disease with variable manifestations. Main features are brain malformations with calcifying leukoencephalopathy, progressive neurodegeneration, and bone sclerotic features. The age at onset ranges from infancy to early adulthood. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum. {ECO:0000269|PubMed:30982608, ECO:0000269|PubMed:30982609}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes. {ECO:0000269|PubMed:22197934, ECO:0000269|PubMed:23408870, ECO:0000269|PubMed:24336230, ECO:0000269|PubMed:24532199}. Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal recessive disease with variable manifestations. Main features are brain malformations with calcifying leukoencephalopathy, progressive neurodegeneration, and bone sclerotic features. The age at onset ranges from infancy to early adulthood. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum. {ECO:0000269|PubMed:30982608, ECO:0000269|PubMed:30982609}. Note=The disease is caused by variants affecting the gene represented in this entry.

7 regional properties for P07333

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	488 - 773	IPR000719
domain	S-locus glycoprotein domain	202 - 311	IPR000858
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	491 - 686	IPR001245
domain	Bulb-type lectin domain	20 - 170	IPR001480
domain	PAN/Apple domain	332 - 418	IPR003609
active_site	Serine/threonine-protein kinase, active site	609 - 621	IPR008271
domain	S-locus receptor kinase, C-terminal	760 - 805	IPR021820

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cell surface	The external part of the cell wall and/or plasma membrane.
CSF1-CSF1R complex	A protein complex consisting of a macrophage colony-stimulating factor (CSF1, also called M-CSF) dimer bound to a dimerized receptor (CSF1R, also called FMS). Receptor dimerization requires the presence of the ligand.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

8 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cytokine binding	Binding to a cytokine, any of a group of proteins that function to control the survival, growth and differentiation of tissues and cells, and which have autocrine and paracrine activity.
macrophage colony-stimulating factor receptor activity	Combining with macrophage colony-stimulating factor (M-CSF) receptor ligand and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
protein phosphatase binding	Binding to a protein phosphatase.
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.
transmembrane receptor protein tyrosine kinase activity	Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate.

44 GO annotations of biological process

Name	Definition
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
cell population proliferation	The multiplication or reproduction of cells, resulting in the expansion of a cell population.
cell-cell junction maintenance	The maintenance of junctions between cells.
cellular response to cytokine 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 cytokine stimulus.
cellular response to macrophage colony-stimulating factor 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 macrophage colony-stimulating factor stimulus.
cytokine-mediated signaling pathway	The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
forebrain neuron differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neuron that will reside in the forebrain.
hematopoietic progenitor cell differentiation	The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells.
hemopoiesis	The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates.
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
macrophage colony-stimulating factor signaling pathway	The series of molecular signals initiated by the binding of the cytokine macrophage colony-stimulating factor (M-CSF) to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
macrophage differentiation	The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage.
mammary gland duct morphogenesis	The process in which anatomical structures of the mammary ducts are generated and organized. Mammary ducts are epithelial tubes that transport milk.
microglial cell proliferation	The expansion of a microglial cell population by cell division.
monocyte differentiation	The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
olfactory bulb development	The progression of the olfactory bulb over time from its initial formation until its mature state. The olfactory bulb coordinates neuronal signaling involved in the perception of smell. It receives input from the sensory neurons and outputs to the olfactory cortex.
osteoclast differentiation	The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue.
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
phosphatidylinositol metabolic process	The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.
phosphatidylinositol-mediated signaling	The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
positive regulation by host of viral process	A process in which a host organism activates or increases the frequency, rate or extent of the release of a process being mediated by a virus with which it is infected.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of cell motility	Any process that activates or increases the frequency, rate or extent of cell motility.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of chemokine production	Any process that activates or increases the frequency, rate, or extent of chemokine production.
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 kinase activity	Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
positive regulation of macrophage chemotaxis	Any process that increases the rate, frequency or extent of macrophage chemotaxis. Macrophage chemotaxis is the movement of a macrophage in response to an external stimulus.
positive regulation of macrophage proliferation	Any process that activates or increases the frequency, rate or extent of macrophage proliferation.
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 protein serine/threonine kinase activity	Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity.
positive regulation of protein tyrosine kinase activity	Any process that increases the rate, frequency, or extent of protein tyrosine kinase activity.
positive regulation of tyrosine phosphorylation of STAT protein	Any process that activates or increases the frequency, rate or extent of the introduction of a phosphate group to a tyrosine residue of a STAT (Signal Transducer and Activator of Transcription) protein.
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).
regulation of actin cytoskeleton reorganization	Any process that modulates the frequency, rate or extent of actin cytoskeleton reorganization.
regulation of bone resorption	Any process that modulates the frequency, rate or extent of bone tissue loss (resorption).
regulation of cell shape	Any process that modulates the surface configuration of a cell.
response to ischemia	Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a inadequate blood supply.
ruffle organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a ruffle, a projection at the leading edge of a crawling cell.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
transmembrane receptor protein tyrosine kinase signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.

100 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P43481	KIT	Mast/stem cell growth factor receptor Kit	Bos taurus (Bovine)	SS
Q06805	TIE1	Tyrosine-protein kinase receptor Tie-1	Bos taurus (Bovine)	PR
Q06807	TEK	Angiopoietin-1 receptor	Bos taurus (Bovine)	SS
Q28889	KIT	Mast/stem cell growth factor receptor Kit	Felis catus (Cat) (Felis silvestris catus)	SS
P13369	CSF1R	Macrophage colony-stimulating factor 1 receptor	Felis catus (Cat) (Felis silvestris catus)	SS
P18460	FGFR3	Fibroblast growth factor receptor 3	Gallus gallus (Chicken)	SS
P21804	FGFR1	Fibroblast growth factor receptor 1	Gallus gallus (Chicken)	SS
Q9PUF6	PDGFRA	Platelet-derived growth factor receptor alpha	Gallus gallus (Chicken)	SS
Q08156	KIT	Mast/stem cell growth factor receptor Kit	Gallus gallus (Chicken)	SS
Q8QHL3	FLT1	Vascular endothelial growth factor receptor 1	Gallus gallus (Chicken)	SS
P18461	FGFR2	Fibroblast growth factor receptor 2	Gallus gallus (Chicken)	SS
Q07407	htl	Fibroblast growth factor receptor homolog 1	Drosophila melanogaster (Fruit fly)	PR
Q6J9G0	STYK1	Tyrosine-protein kinase STYK1	Homo sapiens (Human)	PR
P07949	RET	Proto-oncogene tyrosine-protein kinase receptor Ret	Homo sapiens (Human)	EV
O15146	MUSK	Muscle, skeletal receptor tyrosine-protein kinase	Homo sapiens (Human)	EV
Q01974	ROR2	Tyrosine-protein kinase transmembrane receptor ROR2	Homo sapiens (Human)	EV
Q01973	ROR1	Inactive tyrosine-protein kinase transmembrane receptor ROR1	Homo sapiens (Human)	PR
Q16832	DDR2	Discoidin domain-containing receptor 2	Homo sapiens (Human)	SS
Q08345	DDR1	Epithelial discoidin domain-containing receptor 1	Homo sapiens (Human)	EV
Q16620	NTRK2	BDNF/NT-3 growth factors receptor	Homo sapiens (Human)	EV
P04629	NTRK1	High affinity nerve growth factor receptor	Homo sapiens (Human)	EV
Q16288	NTRK3	NT-3 growth factor receptor	Homo sapiens (Human)	SS
P35916	FLT4	Vascular endothelial growth factor receptor 3	Homo sapiens (Human)	SS
P17948	FLT1	Vascular endothelial growth factor receptor 1	Homo sapiens (Human)	SS
P35968	KDR	Vascular endothelial growth factor receptor 2	Homo sapiens (Human)	EV
P29317	EPHA2	Ephrin type-A receptor 2	Homo sapiens (Human)	SS
P21709	EPHA1	Ephrin type-A receptor 1	Homo sapiens (Human)	SS
P54760	EPHB4	Ephrin type-B receptor 4	Homo sapiens (Human)	SS
P29376	LTK	Leukocyte tyrosine kinase receptor	Homo sapiens (Human)	SS
Q9UM73	ALK	ALK tyrosine kinase receptor	Homo sapiens (Human)	EV
P08922	ROS1	Proto-oncogene tyrosine-protein kinase ROS	Homo sapiens (Human)	SS
P14616	INSRR	Insulin receptor-related protein	Homo sapiens (Human)	SS
P08069	IGF1R	Insulin-like growth factor 1 receptor	Homo sapiens (Human)	EV
P06213	INSR	Insulin receptor	Homo sapiens (Human)	EV
P11362	FGFR1	Fibroblast growth factor receptor 1	Homo sapiens (Human)	EV
P21802	FGFR2	Fibroblast growth factor receptor 2	Homo sapiens (Human)	EV
P22455	FGFR4	Fibroblast growth factor receptor 4	Homo sapiens (Human)	SS
P22607	FGFR3	Fibroblast growth factor receptor 3	Homo sapiens (Human)	EV
Q12866	MERTK	Tyrosine-protein kinase Mer	Homo sapiens (Human)	EV
Q04912	MST1R	Macrophage-stimulating protein receptor	Homo sapiens (Human)	EV
P30530	AXL	Tyrosine-protein kinase receptor UFO	Homo sapiens (Human)	PR
Q06418	TYRO3	Tyrosine-protein kinase receptor TYRO3	Homo sapiens (Human)	SS
P08581	MET	Hepatocyte growth factor receptor	Homo sapiens (Human)	EV
P04626	ERBB2	Receptor tyrosine-protein kinase erbB-2	Homo sapiens (Human)	SS
Q15303	ERBB4	Receptor tyrosine-protein kinase erbB-4	Homo sapiens (Human)	SS
P21860	ERBB3	Receptor tyrosine-protein kinase erbB-3	Homo sapiens (Human)	SS
P00533	EGFR	Epidermal growth factor receptor	Homo sapiens (Human)	EV
P34925	RYK	Tyrosine-protein kinase RYK	Homo sapiens (Human)	PR
Q02763	TEK	Angiopoietin-1 receptor	Homo sapiens (Human)	SS
P35590	TIE1	Tyrosine-protein kinase receptor Tie-1	Homo sapiens (Human)	PR
P10721	KIT	Mast/stem cell growth factor receptor Kit	Homo sapiens (Human)	EV
P09619	PDGFRB	Platelet-derived growth factor receptor beta	Homo sapiens (Human)	EV
P16234	PDGFRA	Platelet-derived growth factor receptor alpha	Homo sapiens (Human)	EV
P36888	FLT3	Receptor-type tyrosine-protein kinase FLT3	Homo sapiens (Human)	EV
Q03142	Fgfr4	Fibroblast growth factor receptor 4	Mus musculus (Mouse)	PR
P05532	Kit	Mast/stem cell growth factor receptor Kit	Mus musculus (Mouse)	PR
Q91V87	Fgfrl1	Fibroblast growth factor receptor-like 1	Mus musculus (Mouse)	PR
P35917	Flt4	Vascular endothelial growth factor receptor 3	Mus musculus (Mouse)	SS
P05622	Pdgfrb	Platelet-derived growth factor receptor beta	Mus musculus (Mouse)	SS
P35969	Flt1	Vascular endothelial growth factor receptor 1	Mus musculus (Mouse)	SS
P35546	Ret	Proto-oncogene tyrosine-protein kinase receptor Ret	Mus musculus (Mouse)	SS
Q06806	Tie1	Tyrosine-protein kinase receptor Tie-1	Mus musculus (Mouse)	SS
Q00342	Flt3	Receptor-type tyrosine-protein kinase FLT3	Mus musculus (Mouse)	SS
Q6J9G1	Styk1	Tyrosine-protein kinase STYK1	Mus musculus (Mouse)	PR
P16092	Fgfr1	Fibroblast growth factor receptor 1	Mus musculus (Mouse)	SS
Q61851	Fgfr3	Fibroblast growth factor receptor 3	Mus musculus (Mouse)	PR
Q02858	Tek	Angiopoietin-1 receptor	Mus musculus (Mouse)	SS
P35918	Kdr	Vascular endothelial growth factor receptor 2	Mus musculus (Mouse)	PR
P21803	Fgfr2	Fibroblast growth factor receptor 2	Mus musculus (Mouse)	SS
P26618	Pdgfra	Platelet-derived growth factor receptor alpha	Mus musculus (Mouse)	SS
P09581	Csf1r	Macrophage colony-stimulating factor 1 receptor	Mus musculus (Mouse)	SS
Q2HWD6	KIT	Mast/stem cell growth factor receptor Kit	Sus scrofa (Pig)	SS
Q7TQM3	Fgfrl1	Fibroblast growth factor receptor-like 1	Rattus norvegicus (Rat)	PR
P53767	Flt1	Vascular endothelial growth factor receptor 1	Rattus norvegicus (Rat)	PR
P20786	Pdgfra	Platelet-derived growth factor receptor alpha	Rattus norvegicus (Rat)	SS
Q91ZT1	Flt4	Vascular endothelial growth factor receptor 3	Rattus norvegicus (Rat)	SS
Q04589	Fgfr1	Fibroblast growth factor receptor 1	Rattus norvegicus (Rat)	SS
G3V9H8	Ret	Proto-oncogene tyrosine-protein kinase receptor Ret	Rattus norvegicus (Rat)	SS
Q498D6	Fgfr4	Fibroblast growth factor receptor 4	Rattus norvegicus (Rat)	PR
Q05030	Pdgfrb	Platelet-derived growth factor receptor beta	Rattus norvegicus (Rat)	SS
O08775	Kdr	Vascular endothelial growth factor receptor 2	Rattus norvegicus (Rat)	SS
Q00495	Csf1r	Macrophage colony-stimulating factor 1 receptor	Rattus norvegicus (Rat)	PR
Q17833	old-1	Tyrosine-protein kinase receptor old-1	Caenorhabditis elegans	PR
Q19238	F09A5.2	Putative tyrosine-protein kinase F09A5.2	Caenorhabditis elegans	SS
Q10656	egl-15	Myoblast growth factor receptor egl-15	Caenorhabditis elegans	PR
P34892	kin-16	Receptor-like tyrosine-protein kinase kin-16	Caenorhabditis elegans	PR
G5ED65	ver-1	Protein ver-1	Caenorhabditis elegans	PR
Q3E8W4	ANX2	Receptor-like protein kinase ANXUR2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SCZ4	FER	Receptor-like protein kinase FERONIA	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FLW0	At5g24010	Probable receptor-like protein kinase At5g24010	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8AXB3	kdrl	Vascular endothelial growth factor receptor kdr-like	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q5GIT4	kdr	Vascular endothelial growth factor receptor 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O73791	tek	Angiopoietin-1 receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q90Z00	fgfr1a	Fibroblast growth factor receptor 1-A	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q8JG38	fgfr2	Fibroblast growth factor receptor 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q90413	fgfr4	Fibroblast growth factor receptor 4	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q9DE49	pdgfra	Platelet-derived growth factor receptor alpha	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q8JFR5	kita	Mast/stem cell growth factor receptor kita	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q5MD89	flt4	Vascular endothelial growth factor receptor 3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q9I8N6	csf1r	Macrophage colony-stimulating factor 1 receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MGPGVLLLLL	VATAWHGQGI	PVIEPSVPEL	VVKPGATVTL	RCVGNGSVEW	DGPPSPHWTL
70	80	90	100	110	120
YSDGSSSILS	TNNATFQNTG	TYRCTEPGDP	LGGSAAIHLY	VKDPARPWNV	LAQEVVVFED
130	140	150	160	170	180
QDALLPCLLT	DPVLEAGVSL	VRVRGRPLMR	HTNYSFSPWH	GFTIHRAKFI	QSQDYQCSAL
190	200	210	220	230	240
MGGRKVMSIS	IRLKVQKVIP	GPPALTLVPA	ELVRIRGEAA	QIVCSASSVD	VNFDVFLQHN
250	260	270	280	290	300
NTKLAIPQQS	DFHNNRYQKV	LTLNLDQVDF	QHAGNYSCVA	SNVQGKHSTS	MFFRVVESAY
310	320	330	340	350	360
LNLSSEQNLI	QEVTVGEGLN	LKVMVEAYPG	LQGFNWTYLG	PFSDHQPEPK	LANATTKDTY
370	380	390	400	410	420
RHTFTLSLPR	LKPSEAGRYS	FLARNPGGWR	ALTFELTLRY	PPEVSVIWTF	INGSGTLLCA
430	440	450	460	470	480
ASGYPQPNVT	WLQCSGHTDR	CDEAQVLQVW	DDPYPEVLSQ	EPFHKVTVQS	LLTVETLEHN
490	500	510	520	530	540
QTYECRAHNS	VGSGSWAFIP	ISAGAHTHPP	DEFLFTPVVV	ACMSIMALLL	LLLLLLLYKY
550	560	570	580	590	600
KQKPKYQVRW	KIIESYEGNS	YTFIDPTQLP	YNEKWEFPRN	NLQFGKTLGA	GAFGKVVEAT
610	620	630	640	650	660
AFGLGKEDAV	LKVAVKMLKS	TAHADEKEAL	MSELKIMSHL	GQHENIVNLL	GACTHGGPVL
670	680	690	700	710	720
VITEYCCYGD	LLNFLRRKAE	AMLGPSLSPG	QDPEGGVDYK	NIHLEKKYVR	RDSGFSSQGV
730	740	750	760	770	780
DTYVEMRPVS	TSSNDSFSEQ	DLDKEDGRPL	ELRDLLHFSS	QVAQGMAFLA	SKNCIHRDVA
790	800	810	820	830	840
ARNVLLTNGH	VAKIGDFGLA	RDIMNDSNYI	VKGNARLPVK	WMAPESIFDC	VYTVQSDVWS
850	860	870	880	890	900
YGILLWEIFS	LGLNPYPGIL	VNSKFYKLVK	DGYQMAQPAF	APKNIYSIMQ	ACWALEPTHR
910	920	930	940	950	960
PTFQQICSFL	QEQAQEDRRE	RDYTNLPSSS	RSGGSGSSSS	ELEEESSSEH	LTCCEQGDIA
970
QPLLQPNNYQ	FC