AiPD: Autoinhibited Protein Database

P06213

Gene name	INSR
Protein name	Insulin receptor
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3643
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class	TYROSINE-PROTEIN KINASE RECEPTOR (PTHR24416)

Descriptions

Insulin signaling controls metabolic homeostasis. Insulin receptor (IR) is a receptor tyrosine kinase (RTK) that plays essential roles in glucose metabolism and cell growth and comprises two copies of extracellular α- and β-subunits. The α-subunit and the N-terminal part of the β-subunit are on the extracellular side, and the β-subunit continues with a single transmembrane helix and C-terminal cytoplasmic domains that are targets of insulin-dependent phosphorylation in downstream signaling. The α-subunits are disulphide linked to each other and to their respective β-subunit, and they form a large ectodomain comprising several subdomains (L1, CR, L2, FnIII (1-3)). IR has two distinct insulin-binding sites with different affinities for insulin, termed sites 1 and 2. One insulin molecule binds to the primary site, which consists of the L1 domain of one IR protomer and the C-terminal helix of the α chain (α-CT) of the other, site 1. The second insulin molecule is bound to the FnIII-1 domain, site 2. The ectodomain of the active IR/IR dimer adopts asymmetric conformations under non-saturating insulin concentrations in the dynamic range of 1-3 insulins bound. In first, site 2 acts as the initial insulin recruitment site, enabling insulin binding to site 1 at lower concentrations of insulin. In the next step, occupancy of a single site 1 in the two-protomer receptor is sufficient to induce assembly of the TM domains, and ultimately the cytoplasmic kinase domains, which eventually rearrange the IR/IR dimer into an active conformation. On the other hand, the fully saturated insulin receptor adopts symmetric conformation with 4 insulins bound, showing the difference in the conformation of the semi-saturated IR.

Autoinhibitory domains (AIDs)

Target domain	1023-1298 (FnIII-2 domain)
Relief mechanism	PTM
Assay	Deletion assay

AID

52-163 (L1 domain)

Target domain

1023-1298 (FnIII-2 domain)

Relief mechanism

PTM (Insulin binding to insulin receptor at sites 1 and 2, which induces autophosphorylation)

Assay

Deletion assay

Accessory elements

1176-1201 (Activation loop from InterPro)

Target domain	1023-1298 (Protein kinase domain)
Relief mechanism	PTM
Assay	Structural analysis, Deletion assay

References

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

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

Hubbard SR et al. (1994) "Crystal structure of the tyrosine kinase domain of the human insulin receptor", Nature, 372, 746-54

Autoinhibited structure

Activated structure

62 structures for P06213

Entry ID	Method	Resolution	Chain	Position	Source
1GAG	X-ray	270 A	A	1005-1310	PDB
1I44	X-ray	240 A	A	1005-1310	PDB
1IR3	X-ray	190 A	A	1005-1310	PDB
1IRK	X-ray	210 A	A	1005-1310	PDB
1P14	X-ray	190 A	A	1005-1310	PDB
1RQQ	X-ray	260 A	A/B	1005-1310	PDB
2AUH	X-ray	320 A	A	1005-1310	PDB
2B4S	X-ray	230 A	B/D	1005-1310	PDB
2HR7	X-ray	232 A	A/B	28-512	PDB
2MFR	NMR	-	A	940-988	PDB
2Z8C	X-ray	325 A	A	1008-1310	PDB
3BU3	X-ray	165 A	A	1005-1310	PDB
3BU5	X-ray	210 A	A	1005-1310	PDB
3BU6	X-ray	195 A	A	1005-1310	PDB
3EKK	X-ray	210 A	A	1005-1310	PDB
3EKN	X-ray	220 A	A	1005-1310	PDB
3ETA	X-ray	260 A	A/B	1017-1322	PDB
3W11	X-ray	390 A			PDB
3W12	X-ray	430 A			PDB
3W13	X-ray	430 A			PDB
4IBM	X-ray	180 A	A/B	1005-1310	PDB
4OGA	X-ray	350 A			PDB
4XLV	X-ray	230 A	A	983-1310	PDB
4XSS	X-ray	300 A	E	28-337	PDB
4XST	X-ray	300 A	E	28-337	PDB
4ZXB	X-ray	330 A	E	28-956	PDB
5E1S	X-ray	226 A	A	1005-1310	PDB
5HHW	X-ray	179 A	A	1005-1310	PDB
5J3H	X-ray	327 A	E	28-337	PDB
5KQV	X-ray	440 A	E/F	28-746	PDB
5U1M	X-ray	180 A	B	991-999	PDB
6HN4	EM	420 A	E/F	28-955	PDB
6HN5	EM	320 A	E/F	28-955	PDB
6PXV	EM	320 A	A/C	28-1382	PDB
6PXW	EM	310 A	A/B	28-1382	PDB
6SOF	EM	430 A			PDB
6VEP	X-ray	290 A			PDB
6VEQ	X-ray	325 A			PDB
7BW7	EM	410 A	A/C	28-1382	PDB
7BW8	EM	380 A	A/C	28-1382	PDB
7BWA	EM	490 A	A/C	28-1382	PDB
7KD6	X-ray	260 A	E/K/Q/W	28-337	PDB
7MQO	EM	340 A	E/F	28-956	PDB
7MQR	EM	410 A	E/F	28-955	PDB
7MQS	EM	440 A	E/F	28-955	PDB
7PG0	EM	760 A	A/B	1-1382	PDB
7PG2	EM	670 A	A/B	1-1382	PDB
7PG3	EM	730 A	A/B	1-1382	PDB
7PG4	EM	910 A	A/B	1-1382	PDB
7PHT	NMR	-	A	953-982	PDB
7QID	EM	500 A			PDB
7S0Q	EM	370 A	B	28-955	PDB
7S8V	EM	373 A	B	28-955	PDB
7U6D	EM	503 A	B/C	28-955	PDB
7U6E	EM	300 A	E/F	28-955	PDB
7YQ3	EM	360 A	E/F	28-946	PDB
7YQ4	EM	395 A	E/F	28-946	PDB
7YQ5	EM	427 A	E/F	28-946	PDB
7YQ6	EM	418 A	E/F	28-946	PDB
8DWN	X-ray	215 A	A	1005-1310	PDB
8GUY	EM	418 A	E/F	28-946	PDB
AF-P06213-F1	Predicted				AlphaFoldDB

868 variants for P06213

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs886054690 CA10649260 RCV001821003 RCV000333796 RCV000276320 RCV000353606	5	G>D	Insulin-resistant diabetes mellitus AND acanthosis nigricans Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000664158 RCV000408260 RCV000308234 rs745857330 RCV000726299 RCV000365243 CA9136191	14	L>P	Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans Pineal hyperplasia AND diabetes mellitus syndrome Monogenic diabetes [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs121913143 RCV000015806 VAR_004079 CA124231	42	N>K	Pineal hyperplasia AND diabetes mellitus syndrome RMS; impairs transport to the plasma membrane and reduces the affinity to bind insulin [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000725827 rs140852238 RCV000990143 RCV000322056 CA9136158	51	E>K	Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000015817 CA124253 VAR_004080 rs121913152	55	V>A	Leprechaunism syndrome LEPRCH; Verona-1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_079535 rs1555689937 CA403160537	56	I>T	LEPRCH; abolishes post-translational processing [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
RCV000015814 VAR_004081 rs52836744 CA124247	58	G>R	Leprechaunism syndrome LEPRCH; Helmond; inhibits processing and transport [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001130982 RCV001130980 rs766295952 CA9136153 RCV001130981	74	R>Q	Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans Pineal hyperplasia AND diabetes mellitus syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA9136152 rs142910337 RCV001174372	75	D>G	Monogenic diabetes [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_004082 RCV000015818 CA124255 rs121913153	113	R>P	Leprechaunism syndrome LEPRCH; Atlanta-1; abolishes insulin binding [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs1347473020 VAR_015909 CA403159910	119	A>V	LEPRCH; markedly impairs insulin binding [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
CA10575769 RCV000240670 rs886037750	132	G>S	Pineal hyperplasia AND diabetes mellitus syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs121913159 VAR_015539 CA124271 RCV000015826	146	I>M	Leprechaunism syndrome LEPRCH; mild [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs121913155 RCV000015820 CA124259	148	K>*	Leprechaunism syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA124238 RCV000015809 rs121913146	160	W>*	Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_015910 rs938519025 CA403159348	167	V>L	IRAN type A [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
RCV000919816 CA9136105 rs143919163 RCV001133814 RCV001133816 RCV001133815	192	G>D	Insulin-resistant diabetes mellitus AND acanthosis nigricans Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1967766760 RCV001172282	211	T>I	Leprechaunism syndrome [ClinVar]	Yes	ClinVar dbSNP
rs121913145 VAR_004084 RCV000015808 CA124236	236	H>R	Leprechaunism syndrome RMS and LEPRCH; Winnipeg; may impair receptor processing [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000496343 rs781007453 CA9136017 VAR_079536	256	R>C	Pineal hyperplasia AND diabetes mellitus syndrome RMS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000015804 CA124227 rs121913141 VAR_004085	260	L>P	Leprechaunism syndrome LEPRCH; Geldeimalsen [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs891087 RCV001130139 RCV001130138 RCV001130137 CA9136014	261	D>E	Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans Pineal hyperplasia AND diabetes mellitus syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1568470274 CA403669945 VAR_015540	279	R>C	IRAN type A; inhibits receptor internalization [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
CA403669940 VAR_031519 rs1329693158	279	R>H	IRAN type A; interferes with receptor processing [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
RCV000778141 rs775724610	309	N>missing	Leprechaunism syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001133677 RCV001130721 RCV000725676 rs72549237 CA206311 RCV000193067 RCV001133676	362	V>I	Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA9135898 rs764221583 VAR_031520	386	G>S	RMS; may impair receptor processing [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA124215 VAR_004086 rs267607184 RCV000015795	393	G>R	Leprechaunism syndrome LEPRCH; Verona-1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs121913151 CA124250 RCV000520627 RCV000015816	399	R>*	Leprechaunism syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000015805 CA124229 rs121913142 VAR_004087	409	F>V	IRAN type A Insulin-resistant diabetes mellitus [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs121913158 RCV000015825 VAR_015542 CA124269	439	W>S	Leprechaunism syndrome LEPRCH; impairs transport of the receptor to the cell surface [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs121913160 CA124275 VAR_031521 RCV000015829	458	N>D	Leprechaunism syndrome LEPRCH; partially inhibits receptor processing and autophosphorylation; strongly impairs ERK phosphorylation; induces wild-type levels of IRS-1 phosphorylation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs121913136 VAR_004088 RCV000015794 CA124213	487	K>E	Leprechaunism syndrome LEPRCH; ARK-1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
rs121913136 RCV001174371	487	K>Q	Monogenic diabetes [ClinVar]	Yes	ClinVar dbSNP
RCV000496626 CA403667087 rs1135401742 VAR_079538	489	N>D	IRAN type A; unknown pathological significance Insulin-resistant diabetes mellitus AND acanthosis nigricans [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA124241 RCV000015810 RCV001753417 VAR_004089 rs121913147	489	N>S	Insulin-resistant diabetes mellitus AND acanthosis nigricans IRAN type A [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP
rs1599937384 CA403666963 RCV000990142	505	I>V	Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000355101 RCV000297870 RCV000262513 CA9135781 rs767160876	543	T>M	Leprechaunism syndrome Pineal hyperplasia AND diabetes mellitus syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1555743340 RCV000664157 CA403666437	581	R>W	Monogenic diabetes [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA9135752 RCV000728382 rs777486535 RCV001197289	604	R>W	Leprechaunism syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_079540 CA403665926 rs1135401737 RCV000496605	657	V>F	Leprechaunism syndrome LEPRCH; impairs post-translational processing [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001133544 RCV001130597 RCV001130598 CA9135709 rs201034510	663	A>V	Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000015796 CA124217 rs121913137	699	Q>*	Leprechaunism syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001129888 rs142391704 RCV001129889 RCV000500908 CA9135660 RCV001129887	706	A>D	Pineal hyperplasia AND diabetes mellitus syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans Leprechaunism syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs143523271 RCV000391048 CA205599 RCV000664156 RCV000306720 RCV000192643 RCV000725945 RCV000363783	748	S>L	Pineal hyperplasia AND diabetes mellitus syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans Leprechaunism syndrome Monogenic diabetes [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000391057 rs545885277 RCV000284597 CA9135627 RCV000341914	749	G>S	Leprechaunism syndrome Pineal hyperplasia AND diabetes mellitus syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs148838377 RCV001819155 RCV001134906 RCV001133424 RCV001133423 RCV000979668 CA9135623	755	P>S	Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001133420 RCV001133422 CA403662795 rs1460294044 RCV001133421	759	R>Q	Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans Pineal hyperplasia AND diabetes mellitus syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs121913138 CA124221 RCV000015798 VAR_004090	762	R>S	Insulin-resistant diabetes mellitus AND acanthosis nigricans IRAN type A [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA9135557 rs376600434 RCV001129805 RCV001129807 RCV001129806	794	E>K	Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
rs78433961 RCV002060806 CA9135556 RCV000765480 RCV001129804 RCV000664155 RCV001129803 RCV001129802	796	R>S	Insulin-resistant diabetes mellitus AND acanthosis nigricans Leprechaunism syndrome Pineal hyperplasia AND diabetes mellitus syndrome Monogenic diabetes [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000335411 rs886054689 CA10643426 RCV000404587 RCV000300288	824	A>V	Insulin-resistant diabetes mellitus AND acanthosis nigricans Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000015828 rs587776820	827	Q>missing	Pineal hyperplasia AND diabetes mellitus syndrome [ClinVar]	Yes	ClinVar dbSNP
rs777565396 CA9135535 RCV000765479 RCV000597551 COSM94507	833	R>Q	Insulin-resistant diabetes mellitus AND acanthosis nigricans prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000496805 CA403662317 VAR_079543 rs1135401739	835	S>I	Pineal hyperplasia AND diabetes mellitus syndrome RMS; impairs post-translational processing [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs780976765 RCV001134791 RCV001134792 RCV001134793	841	S>N	Insulin-resistant diabetes mellitus AND acanthosis nigricans Leprechaunism syndrome Pineal hyperplasia AND diabetes mellitus syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000496805 VAR_079544 rs1135401738 CA403662271	842	A>V	Pineal hyperplasia AND diabetes mellitus syndrome RMS; decreases post-translational processing [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV000445469 rs201667363 CA9135514	855	G>D	Monogenic diabetes [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000326820 VAR_015917 RCV000291653 rs182552223 RCV000381420 CA9135512	858	T>A	Insulin-resistant diabetes mellitus AND acanthosis nigricans Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome NIDDM [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000267106 RCV000380386 RCV001820999 CA9135511 rs201466857 RCV000320530	858	T>M	Insulin-resistant diabetes mellitus AND acanthosis nigricans Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000897981 CA9135509 RCV001174370 rs149536206	859	H>Y	Monogenic diabetes [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200110540 RCV001129681 CA9135504 RCV001129682 RCV001129680	866	V>I	Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001129679 rs370120425 CA9135502 RCV001129677 RCV001129678	868	H>Y	Pineal hyperplasia AND diabetes mellitus syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans Leprechaunism syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs887190835 CA304836394 VAR_079546	878	N>S	RMS; impairs post-translational processing [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP gnomAD
CA9135496 RCV000361037 RCV000765478 rs76077021	889	R>W	Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001133227 CA9135472 RCV001133226 RCV001133225 rs144029037	900	V>I	Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA124223 rs387906538 RCV000015800	924	R>*	Leprechaunism syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
VAR_015918 CA403672042 rs1599881881 RCV001001360	925	I>T	LEPRCH; abolishes post-translational processing; abolishes insulin binding [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_015919 rs911929963 CA304878411	926	R>W	LEPRCH; markedly impairs insulin binding;impairs post-translational processing [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
RCV000725784 RCV000382385 RCV000194649 RCV000286740 rs146588336 RCV000445398 CA208959 RCV000341695	946	D>E	Insulin-resistant diabetes mellitus AND acanthosis nigricans Leprechaunism syndrome Pineal hyperplasia AND diabetes mellitus syndrome Monogenic diabetes [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001134585 rs139944962 CA9135428 RCV001134586 RCV001134584	950	V>I	Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA10652868 rs886054688 RCV000372115 RCV000317517 RCV000276461	978	F>Y	Insulin-resistant diabetes mellitus AND acanthosis nigricans Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000192459 RCV000990140 RCV000664154 rs150114699 CA205293 RCV000883525	991	L>I	Insulin-resistant diabetes mellitus AND acanthosis nigricans Monogenic diabetes [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000496343 CA403671543 rs1135401740	999	Y>*	Pineal hyperplasia AND diabetes mellitus syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1555735951 RCV000599407	1001	S>missing	Leprechaunism syndrome [ClinVar]	Yes	ClinVar dbSNP
CA403671471 RCV001133115 RCV001133113 RCV001133114 rs1281347529	1008	C>S	Leprechaunism syndrome Pineal hyperplasia AND diabetes mellitus syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1799816 CA124262 RCV000344820 RCV000445519 RCV000175131 VAR_004091 RCV000515071 RCV000015822	1012	V>M	Insulin-resistant diabetes mellitus AND acanthosis nigricans Monogenic diabetes Type 2 diabetes mellitus [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_004092 CA124245 rs121913148 RCV000015812	1020	R>Q	Insulin-resistant diabetes mellitus AND acanthosis nigricans IRAN type A [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV000128412 RCV000015807 rs121913144 CA124233	1027	R>*	Insulin-resistant diabetes mellitus AND acanthosis nigricans Pineal hyperplasia AND diabetes mellitus syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_004093 RCV000015793 CA124211 rs121913135	1035	G>V	Insulin-resistant diabetes mellitus AND acanthosis nigricans IRAN type A [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000778147 RCV001132182 RCV001132181 rs200921389 CA9135351	1048	G>D	Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000496626 VAR_079549 rs1135401741 CA403671178	1054	V>M	IRAN type A; unknown pathological significance Insulin-resistant diabetes mellitus AND acanthosis nigricans [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs1599874183 CA403671167 VAR_015923	1055	A>V	IRAN type A [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
VAR_041432 rs56395521 RCV000284948 RCV001329695 RCV000391259 RCV000338672 CA240819 RCV000175130	1065	L>V	Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans Pineal hyperplasia AND diabetes mellitus syndrome Hyperinsulinism due to INSR deficiency [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA403670719 VAR_015925 rs1229730671	1119	R>W	LEPRCH [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
rs1250061465 RCV000984656 CA403670689	1122	A>T	Esophageal atresia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs202160383 RCV000360787 CA9135259 RCV000270583 RCV000306015	1128	R>H	Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans Pineal hyperplasia AND diabetes mellitus syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA304871320 rs111993466 VAR_015928	1158	R>W	RMS; abolishes insulin binding [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
VAR_004095 RCV000015802 rs121913139 CA124225 RCV000015801	1161	A>T	Insulin-resistant diabetes mellitus AND acanthosis nigricans IRAN type A Insulin resistance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_004096 RCV000015819 CA124257 rs121913154	1162	A>E	Insulin-resistant diabetes mellitus AND acanthosis nigricans IRAN type A; impairs proteolytic processing [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
VAR_004097 rs121913157 RCV001851881 CA124266 RCV000015824	1180	M>I	Insulin resistance a patient with insulin resistance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000015815 rs121913150 CA124248 VAR_004098	1191	R>Q	Type 2 diabetes mellitus NIDDM [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA10652867 RCV000355431 RCV000300617 rs886054686 RCV000403287	1191	R>W	Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001818162 CA124264 VAR_015929 RCV000125461 rs121913156 RCV000015823	1201	R>Q	Insulin-resistant diabetes mellitus AND acanthosis nigricans HHF5 and IRAN type A; interferes with kinase activation by insulin Hyperinsulinism due to INSR deficiency [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
VAR_015930 rs1568426700 CA403669442 RCV000755004	1201	R>W	Insulin resistance LEPRCH and RMS; reduces insulin binding possibly due to reduced receptor levels on the cell surface [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_004099 CA403669410 rs1295645322	1205	P>L	IRAN type A; moderate [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
VAR_004100 CA304869554 rs52800171	1220	W>L	IRAN type A; accelerates degradation of the protein and impairs kinase activity [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
CA9135174 rs201979105 RCV000990139	1221	S>A	Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_004101 rs121913140 CA124220	1227	W>S	IRAN type A [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
CA9135155 RCV000765477 rs369102740 RCV000503966 RCV001302076	1259	D>N	Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001335176 COSM1680562 rs371841833 CA9135134 COSM1680561	1270	R>C	Pineal hyperplasia AND diabetes mellitus syndrome large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001132068 CA9135129 VAR_041433 rs55875349 RCV001132067 RCV001132066	1282	T>A	Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans Pineal hyperplasia AND diabetes mellitus syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA9135101 RCV000383396 RCV000287779 rs753624268 RCV000328762	1343	R>Q	Insulin-resistant diabetes mellitus AND acanthosis nigricans Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001253545 rs140573377	1355	Y>*	Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinVar dbSNP
RCV000382182 CA9135093 VAR_015933 RCV000268051 RCV000323071 rs13306449	1361	Y>C	Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans Pineal hyperplasia AND diabetes mellitus syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001129356 CA403668225 RCV001129354 rs52826008 RCV001129355	1378	R>P	Leprechaunism syndrome Pineal hyperplasia AND diabetes mellitus syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs52826008 CA9135084 COSM94505 VAR_015934	1378	R>Q	IRAN type A breast [UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001129353 CA9135082 RCV001136345 rs377701938 RCV001136346	1380	N>S	Pineal hyperplasia AND diabetes mellitus syndrome Leprechaunism syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD
rs7508518 VAR_058395 CA200288	2	A>G		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA403162656 rs1231519485	2	A>S		No	ClinGen gnomAD
rs1370875449 CA403162647	4	G>R		No	ClinGen gnomAD
rs1370875449 CA403162645	4	G>W		No	ClinGen gnomAD
rs1410352680 CA403162641	5	G>S		No	ClinGen gnomAD
rs886054690 CA403162637	5	G>V		No	ClinGen TOPMed gnomAD
CA403162635 rs1171697715	6	R>W		No	ClinGen gnomAD
rs979150286 CA403162628	7	R>L		No	ClinGen TOPMed gnomAD
rs979150286 CA304665201	7	R>Q		No	ClinGen TOPMed gnomAD
CA403162630 rs1378312415	7	R>W		No	ClinGen gnomAD
CA304665193 rs970356148	8	G>A		No	ClinGen TOPMed gnomAD
CA403162621 rs1417610197	9	A>P		No	ClinGen TOPMed gnomAD
rs1417610197 CA403162622	9	A>T		No	ClinGen TOPMed gnomAD
CA403162611 rs1183440326	10	A>V		No	ClinGen gnomAD
CA403162601 rs1600141287	12	A>E		No	ClinGen Ensembl
CA403162594 rs1023611589	13	P>L		No	ClinGen TOPMed
CA304665184 rs1023611589	13	P>Q		No	ClinGen TOPMed
rs777801415 CA9136190	17	A>V		No	ClinGen ExAC gnomAD
CA304665177 rs1015767960 COSM1326095 COSM1326094	19	A>T	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA403162562 rs1320365670 COSM35479	20	A>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
CA403162557 rs1449164583	20	A>V		No	ClinGen TOPMed
CA403162543 rs1234918359	23	L>Q		No	ClinGen gnomAD
CA403162525 rs1201722489	26	A>E		No	ClinGen TOPMed
rs530278666 CA9136188	26	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755298967 CA209132 RCV000194753	28	H>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP
rs1600141148 CA403162500	30	Y>D		No	ClinGen Ensembl
rs1310944135 CA403162480	32	G>R		No	ClinGen TOPMed gnomAD
rs1568243471 CA403162456	34	V>M		No	ClinGen Ensembl
rs1004265500 CA304648388	35	C>F		No	ClinGen TOPMed
CA304648380 rs796678604	36	P>A		No	ClinGen gnomAD
rs748177213 CA9136168	37	G>S		No	ClinGen ExAC TOPMed gnomAD
CA403160737 rs1408976613	39	D>Y		No	ClinGen gnomAD
CA403160714 rs1246915228	41	R>W		No	ClinGen gnomAD
rs144718517 CA9136165	43	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9136164 rs780532714	46	R>G		No	ClinGen ExAC gnomAD
CA9136163 rs758865457	46	R>K		No	ClinGen ExAC TOPMed
rs1267080515 CA403160653	46	R>S		No	ClinGen gnomAD
CA403160632 rs1364492874	48	H>R		No	ClinGen gnomAD
CA9136160 rs757849386	50	L>M		No	ClinGen ExAC gnomAD
CA10606213 rs886044001 RCV000326627	57	E>K		No	ClinGen ClinVar Ensembl dbSNP
CA403160466 rs1388989393	62	I>T		No	ClinGen gnomAD
CA9136155 rs767255267	62	I>V		No	ClinGen ExAC gnomAD
CA304648221 rs78827745	65	M>K		No	ClinGen Ensembl
CA304648216 rs368318921	69	R>K		No	ClinGen Ensembl
CA9136150 rs560460825	76	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA403160326 rs747157246	77	S>G		No	ClinGen ExAC gnomAD
CA9136149 rs747157246	77	S>R		No	ClinGen ExAC gnomAD
rs1331668429 CA403160303	79	P>L		No	ClinGen TOPMed
rs775877781 CA9136148	80	K>R		No	ClinGen ExAC TOPMed gnomAD
rs148554947 CA304648144	82	I>T		No	ClinGen ESP TOPMed
rs1345838456 CA403160256	83	M>I		No	ClinGen gnomAD
CA9136147 rs772506019	84	I>L		No	ClinGen ExAC gnomAD
rs757683491 CA9136144	90	L>F		No	ClinGen ExAC gnomAD
CA9136142 rs777109581	92	R>Q		No	ClinGen ExAC gnomAD
rs752292214 CA9136140	96	L>F		No	ClinGen ExAC gnomAD
CA9136139 rs373196983	101	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1568229181 CA403160045 RCV000722890	103	F>L		No	ClinGen ClinVar Ensembl dbSNP
CA403160010 rs1478172030	106	L>F		No	ClinGen TOPMed gnomAD
rs1248231684 CA403160002	107	T>A		No	ClinGen gnomAD
CA9136136 rs140762552	107	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA403159951 rs121913153	113	R>L		No	ClinGen TOPMed gnomAD
rs121913153 CA403159953	113	R>Q		No	ClinGen TOPMed gnomAD
RCV000595164 rs1347163319	117	N>missing		No	ClinVar dbSNP
rs764030120 CA9136133	118	Y>N		No	ClinGen ExAC gnomAD
rs929761465 CA304648024	119	A>P		No	ClinGen gnomAD
rs929761465 CA403159914	119	A>T		No	ClinGen gnomAD
rs896894246 CA304648013	124	E>K		No	ClinGen Ensembl
CA9136131 rs775779827	125	M>V		No	ClinGen ExAC gnomAD
rs1310336610 CA403159597	129	K>R		No	ClinGen TOPMed gnomAD
CA403159590 rs1413502338	130	E>V		No	ClinGen gnomAD
CA403159572 rs1414682481	133	L>F		No	ClinGen gnomAD
CA9136126 rs749713053	136	L>R		No	ClinGen ExAC gnomAD
rs778361303 CA403159547	137	M>L		No	ClinGen ExAC gnomAD
rs778361303 CA9136125	137	M>V		No	ClinGen ExAC gnomAD
rs747649085 CA9136123	141	R>Q		No	ClinGen ExAC gnomAD
CA403159519 RCV000507254 rs1555689823	141	R>W		No	ClinGen ClinVar Ensembl dbSNP
rs1210993396 CA403159493	145	R>H		No	ClinGen gnomAD
CA9136118 rs750269551	156	A>T		No	ClinGen ExAC gnomAD
CA9136117 rs765224661	158	I>V		No	ClinGen ExAC gnomAD
COSM109186 rs140955974 CA304647817	161	S>F	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs767746469 CA9136114	162	R>L		No	ClinGen ExAC TOPMed gnomAD
CA403159350 rs267605760	166	S>C		No	ClinGen TOPMed
CA304647803 rs267605760	166	S>F		No	ClinGen TOPMed
rs938519025 CA304647800 COSM179728	167	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA403159331 rs1161177676	169	D>V		No	ClinGen gnomAD
rs1051692 VAR_058396 CA304647799	171	Y>H		No	ClinGen UniProt Ensembl dbSNP
CA9136111 rs771145256	172	I>F		No	ClinGen ExAC TOPMed gnomAD
CA304647782 rs147233169	172	I>N		No	ClinGen ESP
rs1240458376 CA403159255	180	E>K		No	ClinGen TOPMed gnomAD
rs1188129008 CA403159247	181	E>K		No	ClinGen gnomAD
CA9136108 rs770317587	185	I>V		No	ClinGen ExAC gnomAD
rs1412618950 COSM713930 CA403159199 COSM713929	187	P>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs868743082 COSM713926 COSM713925 CA304647754	187	P>S	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA304647730 rs759040397	188	G>A		No	ClinGen Ensembl
CA403159187 rs1230564293	190	A>T		No	ClinGen gnomAD
rs1380670253 CA403159182	190	A>V		No	ClinGen gnomAD
rs1433888164 CA403159168	193	K>E		No	ClinGen gnomAD
rs1365559678 CA403159164	193	K>R		No	ClinGen gnomAD
rs1600111312 CA403159159	194	T>P		No	ClinGen Ensembl
rs779769967 CA9136103	195	N>K		No	ClinGen ExAC gnomAD
CA403159149 rs1600111304	195	N>T		No	ClinGen Ensembl
CA304647708 rs923359080	201	I>V		No	ClinGen Ensembl
rs545565240 CA9136100	203	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9136097 rs767658477	207	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1189720431 CA403159064	208	R>Q		No	ClinGen gnomAD
CA403159036 rs1247698582	212	H>R		No	ClinGen gnomAD
rs751669307 CA9136095	212	H>Y		No	ClinGen ExAC
rs1306327558 CA403159024	214	H>N		No	ClinGen gnomAD
rs1008447828 CA304647662	215	C>F		No	ClinGen TOPMed
CA403158998 rs1342894520	217	K>T		No	ClinGen TOPMed
CA9136038 rs199659271	219	C>R		No	ClinGen 1000Genomes ExAC
CA9136036 VAR_004083 rs749094324	220	P>L	Ins resistance; severe [UniProt]	No	ClinGen UniProt ExAC dbSNP gnomAD
rs1054595214 CA304866756	220	P>S		No	ClinGen TOPMed gnomAD
rs777772405 CA9136035	222	I>T		No	ClinGen ExAC gnomAD
CA403670683 rs1198294062	224	K>T		No	ClinGen gnomAD
CA9136034 rs756094905	226	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA403670648 rs1331227306	227	G>S		No	ClinGen TOPMed
rs1599958653 CA403670635	229	T>P		No	ClinGen Ensembl
rs758427733 CA403670614	230	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM1239137 COSM1239138 CA9136032 rs758427733	230	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1228919172 CA403670602	231	E>K		No	ClinGen gnomAD
rs1352334101 CA403670581	232	G>D		No	ClinGen gnomAD
CA304866694 rs387906539	233	L>P		No	ClinGen Ensembl
CA403670561 rs1395469384	234	C>R		No	ClinGen gnomAD
rs368807166 CA304866673	237	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9136027 rs761203947	238	E>K		No	ClinGen ExAC gnomAD
CA403670417 rs1160441788	242	N>H		No	ClinGen gnomAD
CA403670413 rs1459277936	242	N>T		No	ClinGen gnomAD
rs911809758 RCV001001359 CA304866660	243	C>Y		No	ClinGen ClinVar Ensembl dbSNP
rs1187492281 CA403670375	244	S>F		No	ClinGen gnomAD
CA9136026 rs753165819	245	Q>R		No	ClinGen ExAC gnomAD
CA9136025 rs766992696	246	P>L		No	ClinGen ExAC gnomAD
rs770690301 CA9136022	247	D>N		No	ClinGen ExAC TOPMed gnomAD
CA304866647 rs889429317	248	D>A		No	ClinGen Ensembl
rs773115239 CA9136020	248	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1352591087 CA403670258	252	C>G		No	ClinGen gnomAD
rs919315478 CA304866645	252	C>S		No	ClinGen TOPMed
rs748072103 CA9136018	253	V>E		No	ClinGen ExAC gnomAD
CA403670201 rs781007453	256	R>G		No	ClinGen ExAC TOPMed gnomAD
rs775222338 CA9136016	256	R>H		No	ClinGen ExAC TOPMed gnomAD
rs745945039 CA9136015	257	N>S		No	ClinGen ExAC TOPMed gnomAD
rs121913141 CA403670124	260	L>R		No	ClinGen gnomAD
CA304866609 rs891087	261	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368445171 CA304866610	261	D>Y		No	ClinGen ESP TOPMed gnomAD
CA9136011 rs778061866	262	G>D		No	ClinGen ExAC gnomAD
CA9136012 rs141484557	262	G>S		No	ClinGen ExAC gnomAD
rs370458115 CA403670088	263	R>M		No	ClinGen ESP ExAC gnomAD
CA9136010 rs370458115	263	R>T		No	ClinGen ESP ExAC gnomAD
CA9136008 rs767903268	265	V>M		No	ClinGen ExAC gnomAD
rs556954154 CA9136007	266	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1448475843 CA403670012	269	P>L		No	ClinGen gnomAD
rs762657994 CA9136004	270	P>S		No	ClinGen ExAC gnomAD
rs200199169 CA9136002	271	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200199169 CA403670003	271	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537134904 CA9136003	271	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403669970 rs1315098961	275	F>L		No	ClinGen gnomAD
CA9135999 rs768465467	276	Q>K		No	ClinGen ExAC gnomAD
rs1291755894 CA403669924	282	N>D		No	ClinGen TOPMed gnomAD
rs552085622 CA9135997	287	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1568470254 CA403669878	288	D>N		No	ClinGen Ensembl
rs144645940 CA9135994	292	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9135993 rs756422716	293	C>*		No	ClinGen ExAC gnomAD
CA9135992 rs201147780	294	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA304866494 rs982095767	296	S>L		No	ClinGen TOPMed gnomAD
rs375845481 CA9135988	297	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9135989 rs752147545	297	R>W		No	ClinGen ExAC gnomAD
CA403669810 rs1430417934	298	R>K		No	ClinGen TOPMed
CA403669804 rs1202960802	299	Q>E		No	ClinGen gnomAD
rs9282757 CA9135986	303	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs893964695 CA403669762	304	Y>*		No	ClinGen TOPMed gnomAD
CA403669763 rs893964695	304	Y>*		No	ClinGen TOPMed gnomAD
CA9135984 rs560832254	304	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs765888394 CA304866454	305	V>I		No	ClinGen TOPMed gnomAD
CA403669739 rs1234349479	308	N>Y		No	ClinGen gnomAD
CA403669716 rs1298461800	311	C>R		No	ClinGen TOPMed
CA403669708 rs1409790567	312	I>L		No	ClinGen gnomAD
rs1329014300 CA403669680	316	P>A		No	ClinGen gnomAD
CA403669673 rs1297426453	317	S>P		No	ClinGen TOPMed
CA9135978 rs770929673	318	G>R		No	ClinGen ExAC gnomAD
RCV000192986 RCV000725826 rs138528064 CA206180	320	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA403669636 rs1431218772	322	N>I		No	ClinGen gnomAD
CA304866404 rs370295429	324	S>G		No	ClinGen ESP
rs1472259651 CA403669602	325	N>T		No	ClinGen TOPMed gnomAD
rs373995681 CA304860995	334	P>L		No	ClinGen ESP gnomAD
CA403668095 rs1413147628	339	C>Y		No	ClinGen gnomAD
rs1446526592 CA403668088	340	H>Y		No	ClinGen gnomAD
rs1188187072 CA403668055	345	E>K		No	ClinGen gnomAD
CA403668056 rs1188187072	345	E>Q		No	ClinGen gnomAD
CA403668036 rs1392711637	347	T>I		No	ClinGen TOPMed gnomAD
CA9135939 rs767336985	348	I>F		No	ClinGen ExAC gnomAD
CA403668030 rs866621682	348	I>M		No	ClinGen TOPMed gnomAD
rs759347211 COSM1003195 COSM1003194 CA9135938	349	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA403668012 rs1333839544	351	V>A		No	ClinGen gnomAD
CA403668005 rs1246004221	352	T>M		No	ClinGen gnomAD
CA9135935 rs55816055	353	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs776644773 CA9135934	354	A>V		No	ClinGen ExAC gnomAD
rs1599946571 CA403667990	355	Q>R		No	ClinGen Ensembl
rs1568464307 CA403667986	356	E>*		No	ClinGen Ensembl
rs768988952 CA403667972	358	R>*		No	ClinGen ExAC gnomAD
CA9135933 rs768988952	358	R>G		No	ClinGen ExAC gnomAD
rs761029065 CA9135932	358	R>Q		No	ClinGen ExAC gnomAD
rs1426569722 CA403667933	364	N>S		No	ClinGen gnomAD
CA9135929 rs771406570	365	G>R		No	ClinGen ExAC gnomAD
rs1429401646 CA403667921	366	S>N		No	ClinGen gnomAD
rs1434912356 CA403667911	368	I>L		No	ClinGen TOPMed gnomAD
rs777311078 CA9135927	369	I>T		No	ClinGen ExAC gnomAD
rs1189777988 CA403667903	369	I>V		No	ClinGen gnomAD
rs1270168596 CA403667894	370	N>S		No	ClinGen gnomAD
rs755730135 CA9135926	371	I>S		No	ClinGen ExAC gnomAD
rs376015807 CA304860876	371	I>V		No	ClinGen ESP TOPMed
COSM1003188 rs387906540 CA9135925 COSM1003189	372	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1207688034 CA403667832	378	A>V		No	ClinGen TOPMed
rs747049785 CA304859604	381	L>I		No	ClinGen TOPMed
rs543791069 CA304859591	383	A>T		No	ClinGen TOPMed gnomAD
rs1413967419 CA403667794	384	N>K		No	ClinGen TOPMed
RCV001269129 CA403667796 rs1419106670	384	N>S		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs780293124 CA304859583	385	L>F		No	ClinGen Ensembl
rs1252093391 CA403667788	385	L>R		No	ClinGen gnomAD
rs752891647 CA9135896	388	I>T		No	ClinGen ExAC TOPMed gnomAD
CA9135895 rs767765177	389	E>V		No	ClinGen ExAC gnomAD
CA403667754 rs1326844047	391	I>V		No	ClinGen gnomAD
CA403667743 rs1568462824 COSM1711688 COSM1711689	392	S>L	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1395670096 CA403667707	398	R>C		No	ClinGen TOPMed gnomAD
rs1383713230 CA403667706	398	R>H		No	ClinGen gnomAD
CA403667686 rs76262811	401	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403667683 rs1393251984	402	A>G		No	ClinGen gnomAD
rs144929085 CA304859534	402	A>P		No	ClinGen ESP TOPMed
CA304859525 rs144929085	402	A>S		No	ClinGen ESP TOPMed
rs144929085 CA403667685	402	A>T		No	ClinGen ESP TOPMed
rs1388400190 CA403667676	404	V>M		No	ClinGen gnomAD
rs181150880 CA9135888	410	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM240240 CA9135889 rs747657283	410	R>W	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9135887 rs200059069	411	K>Q		No	ClinGen 1000Genomes ExAC
CA9135885 rs79312957	413	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758151117 CA9135884	413	R>H		No	ClinGen ExAC TOPMed gnomAD
rs778989302 CA403667603	416	R>*		No	ClinGen ExAC TOPMed gnomAD
rs757322264 CA9135881	416	R>Q		No	ClinGen ExAC gnomAD
rs752801421 CA9135880	417	G>R		No	ClinGen ExAC
CA304859439 rs917968562	418	E>K		No	ClinGen TOPMed gnomAD
CA403667587 rs1245261538	419	T>A		No	ClinGen gnomAD
CA9135875 rs771075792	423	G>E		No	ClinGen ExAC gnomAD
CA403667505 rs1240195769	429	A>T		No	ClinGen TOPMed
CA403667426 rs1375755714	440	D>N		No	ClinGen TOPMed gnomAD
CA403667416 rs1240425455	441	W>G		No	ClinGen TOPMed gnomAD
rs775123945 CA9135850	442	S>G		No	ClinGen ExAC TOPMed gnomAD
CA9135849 rs771828621	442	S>N		No	ClinGen ExAC gnomAD
CA403667395 rs1271134156	444	H>Y		No	ClinGen gnomAD
CA304858665 rs1051691 VAR_015915	448	I>T		No	ClinGen UniProt Ensembl dbSNP
rs774246413 CA9135847	449	T>P		No	ClinGen ExAC gnomAD
rs1220907798 CA403667353	450	Q>R		No	ClinGen Ensembl
rs1305371098 CA403667345	451	G>V		No	ClinGen gnomAD
CA9135846 rs770869928	452	K>Q		No	ClinGen ExAC gnomAD
rs387906537 CA304858621	460	K>E		No	ClinGen Ensembl
CA403667233 rs1402722522	467	H>Y		No	ClinGen TOPMed
CA9135845 rs749186567	468	K>E		No	ClinGen ExAC gnomAD
CA9135844 rs777572827	471	E>*		No	ClinGen ExAC gnomAD
CA9135843 rs769839641	471	E>D		No	ClinGen ExAC TOPMed gnomAD
rs768508632 CA304858598	472	V>A		No	ClinGen Ensembl
CA403667197 rs1224661019	472	V>I		No	ClinGen gnomAD
CA403667175 rs1347869530	475	T>I		No	ClinGen gnomAD
CA9135841 rs374192353	477	G>E		No	ClinGen ESP ExAC gnomAD
CA9135840 rs556950372	478	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403667160 rs556950372	478	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9135839 RCV000316624 rs750676016	478	R>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA403667159 rs750676016	478	R>L		No	ClinGen ExAC TOPMed gnomAD
CA403667146 rs1403616489	480	E>G		No	ClinGen gnomAD
rs757634971 CA9135837	483	D>N		No	ClinGen ExAC gnomAD
CA403667118 rs1431273614	484	I>V		No	ClinGen gnomAD
CA403667112 rs1156898843	485	A>S		No	ClinGen gnomAD
rs1233574107 CA403667071	491	D>G		No	ClinGen gnomAD
rs1440978499 CA403667048	494	S>F		No	ClinGen gnomAD
rs1215683348 CA403667010	498	E>*		No	ClinGen gnomAD
CA9135819 rs778238595	498	E>G		No	ClinGen ExAC gnomAD
rs1003042274 CA304857325	501	K>R		No	ClinGen Ensembl
rs753268763 CA9135817	504	Y>*		No	ClinGen ExAC gnomAD
CA9135814 rs751178759	506	R>Q		No	ClinGen ExAC gnomAD
rs754537233 CA9135815	506	R>W		No	ClinGen ExAC TOPMed gnomAD
CA304857289 rs867276787	507	T>I		No	ClinGen Ensembl
CA304857283 rs761228023	508	S>A		No	ClinGen Ensembl
rs1023308437 CA304857279	508	S>F		No	ClinGen Ensembl
CA9135813 rs766120185	509	F>V		No	ClinGen ExAC gnomAD
CA403666895 rs1599937277	516	W>G		No	ClinGen Ensembl
rs147671523 CA9135810	517	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA403666876 rs1263247183	518	P>L		No	ClinGen gnomAD
rs866529817 CA304857256	518	P>S		No	ClinGen Ensembl
CA403666864 rs1446729392	520	W>*		No	ClinGen gnomAD
CA9135808 rs761607332	521	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1599937180 RCV001007958 CA403666830	525	R>*		No	ClinGen ClinVar Ensembl dbSNP
CA403666829 rs1259326598	525	R>Q		No	ClinGen gnomAD
rs201978448 CA9135802	537	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA304856320 rs944838315	538	P>T		No	ClinGen Ensembl
CA403666688 rs1297468126	544	E>K		No	ClinGen TOPMed
CA9135777 rs2229429	546	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2229429 CA304856303	546	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9135778 rs748506835	546	D>N		No	ClinGen ExAC gnomAD
COSM1481659 rs747554207 CA9135775 COSM1481658	547	G>R	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA403666667 rs747554207 COSM1481659 COSM1481658	547	G>R	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs779385641 CA9135774	550	A>G		No	ClinGen ExAC gnomAD
rs1434369691 CA403666637	551	C>Y		No	ClinGen gnomAD
rs1247861408 CA403666633	552	G>S		No	ClinGen gnomAD
CA9135772 rs778625095	554	N>S		No	ClinGen ExAC gnomAD
CA9135771 rs756962746	555	S>T		No	ClinGen ExAC TOPMed gnomAD
rs763905694 CA9135769	556	W>*		No	ClinGen ExAC gnomAD
rs763905694 CA403666604	556	W>L		No	ClinGen ExAC gnomAD
CA9135768 rs762498057	557	T>M		No	ClinGen ExAC TOPMed gnomAD
CA403666581 rs1599935017	560	D>H		No	ClinGen Ensembl
CA403666573 rs1397511542	561	I>V		No	ClinGen TOPMed
rs1599934998 CA403666565	562	D>Y		No	ClinGen Ensembl
CA403666540 rs367916682	566	R>K		No	ClinGen ESP ExAC gnomAD
CA9135764 rs367916682	566	R>T		No	ClinGen ESP ExAC gnomAD
CA403666524 rs574579535	568	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA9135762 rs762169820	569	D>N		No	ClinGen ExAC
rs777099465 CA9135761	575	H>Y		No	ClinGen ExAC gnomAD
rs141626777 CA304856252	579	L>V		No	ClinGen Ensembl
rs747464322 CA9135759	581	R>Q		No	ClinGen ExAC gnomAD
CA403666412 rs1431054271	585	P>S		No	ClinGen TOPMed
CA403666408 rs1339236526	586	W>R		No	ClinGen gnomAD
CA403666387 rs1452326518	588	Q>H		No	ClinGen gnomAD
CA403666356 rs1361551177	593	V>L		No	ClinGen TOPMed gnomAD
CA9135757 rs772521737	598	T>I		No	ClinGen ExAC gnomAD
rs745372291 CA9135756	600	S>L		No	ClinGen ExAC gnomAD
rs756862444 CA9135754	603	R>C		No	ClinGen ExAC gnomAD
CA9135753 rs753509035 COSM1003173 COSM1003174	603	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs755906677 CA9135751	604	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA403666275 rs1355990207	606	Y>F		No	ClinGen gnomAD
rs752497783 CA9135750	608	A>T		No	ClinGen ExAC gnomAD
CA9135749 rs767472915	608	A>V		No	ClinGen ExAC gnomAD
rs754918764 CA9135748	610	S>N		No	ClinGen ExAC gnomAD
CA403666243 rs1270834796	611	D>N		No	ClinGen gnomAD
rs1218016172 CA403666229	613	I>V		No	ClinGen TOPMed
CA403666214 rs1240624261	615	V>L		No	ClinGen TOPMed
CA403666198 rs750488699	617	T>I		No	ClinGen ExAC TOPMed gnomAD
rs750488699 CA9135747	617	T>R		No	ClinGen ExAC TOPMed gnomAD
rs765441238 CA9135746	618	D>H		No	ClinGen ExAC TOPMed gnomAD
rs765441238 CA403666196	618	D>N		No	ClinGen ExAC TOPMed gnomAD
rs762082014 CA9135745	618	D>V		No	ClinGen ExAC gnomAD
CA403666160 rs1469593224	621	N>K		No	ClinGen TOPMed
rs1266683305 CA403666162	621	N>S		No	ClinGen gnomAD
CA9135721 rs760028782	624	V>G		No	ClinGen ExAC gnomAD
rs1269686373 CA403666140	625	P>A		No	ClinGen gnomAD
rs1315534956 CA403666134	626	L>V		No	ClinGen TOPMed
rs1568457657 CA403666126	627	D>G		No	ClinGen Ensembl
rs1252316061 CA403666115	629	I>V		No	ClinGen gnomAD
CA403666103 rs1220855203	631	V>M		No	ClinGen gnomAD
CA403666090 rs1283232736	633	N>D		No	ClinGen gnomAD
rs1403754849 CA403666083	634	S>A		No	ClinGen gnomAD
CA403666068 rs1168145595	636	S>Y		No	ClinGen gnomAD
rs1331223921 CA403666048	639	I>V		No	ClinGen gnomAD
CA304851277 rs267605758	646	S>F		No	ClinGen gnomAD
CA403665984 rs942987782	648	P>L		No	ClinGen TOPMed
CA304851266 rs942987782	648	P>R		No	ClinGen TOPMed
rs780995368 CA9135714	649	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1285354088 CA403665938	655	Y>S		No	ClinGen TOPMed
rs868567520 CA304851255	661	R>M		No	ClinGen Ensembl
rs780136082 CA9135710	661	R>S		No	ClinGen ExAC gnomAD
CA304851249 rs201034510	663	A>E		No	ClinGen ExAC TOPMed gnomAD
rs201034510 CA9135708	663	A>G		No	ClinGen ExAC TOPMed gnomAD
rs76673783 CA304851236	664	E>G		No	ClinGen gnomAD
CA403665839 rs2962	669	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1263032915 CA403665837	670	E>K		No	ClinGen TOPMed gnomAD
rs1263032915 CA403665836	670	E>Q		No	ClinGen TOPMed gnomAD
CA403665829 rs1568457502	671	L>M		No	ClinGen Ensembl
rs1224718488 CA403665812	673	Y>S		No	ClinGen gnomAD
CA304844107 rs1030286694	678	L>M		No	ClinGen Ensembl
rs1217432940 CA403664726	680	L>V		No	ClinGen TOPMed gnomAD
rs764741999 CA9135676	686	S>F		No	ClinGen ExAC TOPMed gnomAD
CA9135675 rs761229082	688	P>S		No	ClinGen ExAC gnomAD
CA403664666 rs776263155	689	F>L		No	ClinGen ExAC
CA9135673 rs768172890	690	E>V		No	ClinGen ExAC gnomAD
CA9135672 rs760446034	693	D>N		No	ClinGen ExAC gnomAD
CA9135671 rs574155637	694	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9135670 VAR_041430 rs55906835	695	Q>R		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA9135669 rs770959435	696	K>*		No	ClinGen ExAC TOPMed gnomAD
CA9135668 rs770959435	696	K>E		No	ClinGen ExAC TOPMed gnomAD
CA9135667 rs770959435	696	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA403664612 rs1218334759	697	H>Q		No	ClinGen gnomAD
CA9135666 rs121913137	699	Q>E		No	ClinGen ExAC gnomAD
CA304844027 rs1018296059	699	Q>R		No	ClinGen TOPMed
rs1381125977 CA403664591	700	S>R		No	ClinGen gnomAD
CA9135663 rs755112011	701	E>G		No	ClinGen ExAC TOPMed gnomAD
COSM1397507 COSM1397506 CA9135665 rs781369204	701	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC
CA403664587 rs755112011	701	E>V		No	ClinGen ExAC TOPMed gnomAD
CA403664574 rs1341209927	703	E>K		No	ClinGen gnomAD
CA9135661 rs780341809	704	D>E		No	ClinGen ExAC gnomAD
rs1300045619 CA403664566	704	D>Y		No	ClinGen gnomAD
CA304844005 rs898164835	705	S>L		No	ClinGen TOPMed
rs765652952 CA9135658	707	G>S		No	ClinGen ExAC gnomAD
rs757832776 CA9135657	707	G>V		No	ClinGen ExAC gnomAD
rs763692568 CA9135655	708	E>K		No	ClinGen ExAC TOPMed gnomAD
CA403664483 rs1489656914	716	D>E		No	ClinGen gnomAD
rs1365144382 CA403664474	718	Q>*		No	ClinGen Ensembl
rs760356473 CA9135654	718	Q>P		No	ClinGen ExAC gnomAD
rs775284981 CA9135653	719	I>L		No	ClinGen ExAC gnomAD
CA403664384 rs1403133451	731	T>S		No	ClinGen gnomAD
CA403664380 rs1294314902	732	F>I		No	ClinGen gnomAD
CA403664376 rs1568448566	732	F>S		No	ClinGen Ensembl
CA403664364 rs1403001456	734	D>N		No	ClinGen gnomAD
rs1353116498 CA403664341	737	H>Y		No	ClinGen gnomAD
CA9135648 rs776522151	739	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9135647 rs768734111	742	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1318732827 CA403663514	746	T>I		No	ClinGen TOPMed gnomAD
CA403663518 rs1318732827	746	T>N		No	ClinGen TOPMed gnomAD
CA304842503 rs867727341	753	E>A		No	ClinGen Ensembl
rs749680238 CA403663442	753	E>D		No	ClinGen ExAC gnomAD
CA9135625 rs771341975	753	E>K		No	ClinGen ExAC gnomAD
CA403663429 rs1305148332	754	D>E		No	ClinGen gnomAD
CA403663432 rs1599907768	754	D>V		No	ClinGen Ensembl
CA403663420 rs1415044152	755	P>L		No	ClinGen gnomAD
CA304842494 rs1001920862	756	R>K		No	ClinGen TOPMed
rs756730681 CA9135622	756	R>W		No	ClinGen ExAC gnomAD
RCV000484795 rs752552480 CA16620911	759	R>W		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs138897740 CA304837901	764	L>F		No	ClinGen ESP
RCV000193115 CA206380 rs146698985	765	G>S		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs774340801 CA403662756	766	D>H		No	ClinGen ExAC gnomAD
CA9135583 rs774340801	766	D>N		No	ClinGen ExAC gnomAD
CA304837832 rs930609747	767	V>A		No	ClinGen TOPMed
CA9135582 rs776184742	770	V>A		No	ClinGen ExAC TOPMed gnomAD
CA9135580 rs773661946	771	T>M		No	ClinGen ExAC gnomAD
CA403662707 rs777271464	774	V>L		No	ClinGen ExAC TOPMed gnomAD
rs777271464 CA403662708	774	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9135577 rs777271464	774	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9135574 RCV000734264 rs377048253	776	T>M		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs745546295 CA9135572	777	V>M		No	ClinGen ExAC gnomAD
CA403662687 COSM1003165 rs1327078774	778	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs199926527 CA304837769	780	F>L		No	ClinGen Ensembl
rs757052315 CA9135570	782	N>S		No	ClinGen ExAC gnomAD
CA403662650 rs1399330667	783	T>I		No	ClinGen TOPMed gnomAD
CA403662646 rs753688285	784	S>C		No	ClinGen ExAC gnomAD
CA9135569 rs753688285	784	S>F		No	ClinGen ExAC gnomAD
CA9135568 rs145643501	785	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA304837757 rs145643501	785	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs151246790 CA9135566	788	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9135564 rs773571680	789	P>T		No	ClinGen ExAC gnomAD
CA403662614 rs1429159172	790	T>A		No	ClinGen TOPMed gnomAD
CA9135563 rs369025474	790	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1599897330 CA403662607	791	S>T		No	ClinGen Ensembl
CA9135561 rs769165470	792	P>L		No	ClinGen ExAC TOPMed gnomAD
CA403662601 rs1200919231	792	P>S		No	ClinGen gnomAD
CA9135559 rs747502451	793	E>G		No	ClinGen ExAC gnomAD
rs376600434 CA9135558	794	E>Q		No	ClinGen ESP ExAC gnomAD
CA304837688 rs970043558	796	R>W		No	ClinGen TOPMed
rs1568441899 RCV000723193	797	P>missing		No	ClinVar dbSNP
CA403662523 rs1338581179	803	N>K		No	ClinGen gnomAD
CA403662526 rs1448739003	803	N>S		No	ClinGen TOPMed gnomAD
rs1333466105 CA403662510	805	E>G		No	ClinGen gnomAD
CA403662501 rs1415079005	806	S>L		No	ClinGen gnomAD
rs1419256494 CA403662498	807	L>P		No	ClinGen gnomAD
rs777456514 CA9135552	808	V>F		No	ClinGen ExAC gnomAD
rs777456514 CA403662495	808	V>I		No	ClinGen ExAC gnomAD
rs756025720 CA9135551	810	S>F		No	ClinGen ExAC gnomAD
VAR_041431 rs35045353 CA9135549	811	G>S		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs371294434 CA9135545	813	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs754190685 CA9135544	813	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs764388334 CA9135543	814	H>Q		No	ClinGen ExAC gnomAD
CA403662444 rs1242001529 COSM1397497 COSM1397496	816	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1555738952 CA403662427	819	R>G		No	ClinGen Ensembl
rs1283504748 CA403662425	819	R>H		No	ClinGen gnomAD
rs1283504748 CA403662423	819	R>L		No	ClinGen gnomAD
CA403662415 rs1471585411	821	E>K		No	ClinGen TOPMed
rs1599897047 CA403662407	822	L>M		No	ClinGen Ensembl
rs368892041 CA9135539	824	A>S		No	ClinGen ESP ExAC gnomAD
rs773888335 CA9135538	828	D>V		No	ClinGen ExAC gnomAD
CA9135537 rs770527155	829	T>N		No	ClinGen ExAC TOPMed gnomAD
rs2162771 CA304837544 VAR_055986	830	P>L		No	ClinGen UniProt Ensembl dbSNP
CA9135536 rs748957634	833	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1415163303 CA403662313	836	V>M		No	ClinGen TOPMed
rs1599896950 CA403662299	838	A>G		No	ClinGen Ensembl
rs139912396 CA403662288	840	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9135533 rs139912396	840	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780976765 CA9135532	841	S>T		No	ClinGen ExAC gnomAD
rs779165319 CA9135529	845	M>T		No	ClinGen ExAC gnomAD
rs781081662 CA9135515	848	A>D		No	ClinGen ExAC TOPMed gnomAD
CA403662112 rs781081662	848	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9135513 rs370464635	857	V>M		No	ClinGen ESP ExAC gnomAD
CA403661983 rs1202340614	859	H>R		No	ClinGen gnomAD
CA9135508 rs139040947	861	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752961659 CA9135507	864	N>S		No	ClinGen ExAC TOPMed gnomAD
rs766938463 CA9135503	867	V>I		No	ClinGen ExAC TOPMed gnomAD
CA403661854 rs1392174574	868	H>R		No	ClinGen gnomAD
rs772827013 CA9135501	869	L>V		No	ClinGen ExAC gnomAD
CA9135500 rs764767561	873	E>G		No	ClinGen ExAC gnomAD
rs1599895146 CA403661739	876	E>G		No	ClinGen Ensembl
CA304836389 rs1047552200	881	I>T		No	ClinGen TOPMed gnomAD
rs565092654 CA304836381	882	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9135497 COSM3701580 COSM3701579 rs565092654	882	V>M	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA403661681 rs1441056182	884	Y>*		No	ClinGen TOPMed
CA403661628 rs1458116205	888	Y>C		No	ClinGen gnomAD
CA9135495 rs187282966 RCV000594791	889	R>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1568440846 CA403661611	890	R>*		No	ClinGen Ensembl
rs979757589 CA304836367	890	R>Q		No	ClinGen Ensembl
rs754878748 CA9135494	892	G>S		No	ClinGen ExAC gnomAD
rs777936458 CA9135492	893	D>G		No	ClinGen ExAC TOPMed gnomAD
rs183360558 COSM1210753 CA9135493 COSM1210754	893	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA403672229 rs1182697643	895	E>Q		No	ClinGen TOPMed
rs191340770 CA403672197	899	C>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144029037 CA403672194	900	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1740547 rs1423107716 CA403672182 COSM1740546	902	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA304878502 rs753474375	902	R>H		No	ClinGen TOPMed gnomAD
rs753474375 CA403672180	902	R>L		No	ClinGen TOPMed gnomAD
rs575954707 CA9135469	906	A>T		No	ClinGen ExAC TOPMed gnomAD
rs780429736 CA9135467	907	L>V		No	ClinGen ExAC gnomAD
CA9135465 COSM1397486 rs750954241 COSM1397485	909	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9135466 rs374004972	909	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1295690531 CA403672105	914	R>H		No	ClinGen gnomAD
rs1599881961 CA403672100	915	G>E		No	ClinGen Ensembl
CA9135459 rs767356321	918	P>L		No	ClinGen ExAC gnomAD
CA9135460 rs752488834	918	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1041809996 COSM94506 CA304878454	919	G>E	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1291518060 CA403672069	921	Y>D		No	ClinGen gnomAD
rs1291518060 CA403672068	921	Y>H		No	ClinGen gnomAD
CA403672053 rs760156961	923	V>L		No	ClinGen TOPMed gnomAD
CA304878442 rs760156961 COSM1003159	923	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA9135455 rs387906538	924	R>G		No	ClinGen ExAC
CA9135454 rs776732157	924	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs369249598 CA304878406	928	T>I		No	ClinGen ESP gnomAD
CA403672029 rs1599881851	928	T>P		No	ClinGen Ensembl
rs1568434456 CA403671986	935	S>T		No	ClinGen Ensembl
CA403671959 rs779465043	938	E>D		No	ClinGen ExAC gnomAD
CA403671954 rs1156477251	939	P>L		No	ClinGen gnomAD
CA403671942 rs1276948190	941	Y>C		No	ClinGen gnomAD
CA304878369 rs1049591144	942	F>L		No	ClinGen TOPMed
CA403671927 rs1227540414	943	Y>C		No	ClinGen gnomAD
CA9135446 rs753371466	944	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1368109949 CA403671910	946	D>Y		No	ClinGen gnomAD
CA9135430 rs777349061	949	D>E		No	ClinGen ExAC TOPMed gnomAD
rs146472806 CA9135427	951	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9135425 rs533254875	952	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs143575076 CA304876060	954	I>F		No	ClinGen Ensembl
rs1165168818 CA403671840	955	A>T		No	ClinGen TOPMed
rs368489315 CA9135424	956	K>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1439037362 CA403671829	956	K>N		No	ClinGen gnomAD
rs1253377241 CA403671823	957	I>T		No	ClinGen gnomAD
CA9135422 rs758274960	958	I>V		No	ClinGen ExAC TOPMed gnomAD
rs765227638 CA9135420	960	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1280056812 CA403671773	965	V>I		No	ClinGen gnomAD
CA304876031 rs1011018320	966	F>I		No	ClinGen Ensembl
CA403671738 rs1241182828	970	V>F		No	ClinGen gnomAD
CA304876008 rs897199307	971	V>A		No	ClinGen TOPMed
rs1338633408 CA403671711	974	S>I		No	ClinGen TOPMed gnomAD
CA403671713 rs1338633408	974	S>N		No	ClinGen TOPMed gnomAD
rs1555736246 RCV000599166	977	L>missing		No	ClinVar dbSNP
CA403671678 rs1599877878	979	L>P		No	ClinGen Ensembl
rs1038787462 CA304876004	981	K>N		No	ClinGen TOPMed
rs373987467 CA9135396	984	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs866953305 COSM1003156 COSM1003155 CA304874332	985	D>Y	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA304874325 rs866193541	987	P>L		No	ClinGen TOPMed gnomAD
rs773751455 CA9135395	987	P>T		No	ClinGen ExAC gnomAD
rs868684642 CA403671600	990	P>L		No	ClinGen gnomAD
rs868684642 CA304874301	990	P>Q		No	ClinGen gnomAD
rs990440524 CA304874276	993	A>T		No	ClinGen TOPMed gnomAD
CA304874271 rs867607699	998	E>*		No	ClinGen Ensembl
rs771761964 CA9135389	998	E>D		No	ClinGen ExAC gnomAD
CA403671544 rs1234695343	999	Y>F		No	ClinGen TOPMed
rs745634483 CA9135388	1000	L>F		No	ClinGen ExAC TOPMed gnomAD
CA403671535 rs1364446814	1001	S>G		No	ClinGen gnomAD
CA403671533 rs1398761702	1001	S>N		No	ClinGen gnomAD
CA403671491 rs1234609284	1005	V>E		No	ClinGen gnomAD
rs867354196 CA304873548	1007	P>S		No	ClinGen Ensembl
rs1224760162 CA403671437	1013	P>L		No	ClinGen TOPMed gnomAD
rs1568430334 CA403671423	1015	E>D		No	ClinGen Ensembl
CA9135369 rs147176789	1015	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs367642400 CA304873491	1019	S>P		No	ClinGen ESP TOPMed gnomAD
rs367642400 CA304873495	1019	S>T		No	ClinGen ESP TOPMed gnomAD
CA403671393 rs1378329388	1020	R>*		No	ClinGen gnomAD
rs756113991 CA9135368	1021	E>Q		No	ClinGen ExAC
COSM713945 COSM713946 CA403671375 rs1419546448	1023	I>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
RCV000423108 CA9135366 rs780301757	1024	T>I		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs780301757 CA9135367	1024	T>S		No	ClinGen ExAC gnomAD
rs750677625 CA9135363	1027	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9135362 rs765562038	1028	E>A		No	ClinGen ExAC gnomAD
CA9135361 rs199580495	1033	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764479879 CA9135359	1035	G>S		No	ClinGen ExAC gnomAD
CA403671296 rs1187224124	1036	M>T		No	ClinGen TOPMed
CA403671290 rs1599874273	1037	V>L		No	ClinGen Ensembl
CA304873392 rs74333552	1038	Y>N		No	ClinGen Ensembl
CA403671272 rs138476238	1039	E>D		No	ClinGen ESP ExAC gnomAD
rs1193315376 CA403671268	1040	G>A		No	ClinGen TOPMed
CA304873391 rs940995298	1040	G>C		No	ClinGen Ensembl
CA9135352 rs749002768	1047	K>R		No	ClinGen ExAC gnomAD
CA403671183 rs1288021639	1052	T>I		No	ClinGen TOPMed gnomAD
CA9135350 rs185736681	1053	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9135349 rs748109926 RCV000311042 RCV001820810	1053	R>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA403671161 rs1599874173	1056	V>G		No	ClinGen Ensembl
CA9135345 rs778982272	1058	T>M		No	ClinGen ExAC TOPMed gnomAD
CA9135342 rs55882714	1061	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9135339 rs759020723	1063	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9135338 rs759020723	1063	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1053653882 CA304873334	1064	S>N		No	ClinGen TOPMed
CA403671105 rs1234618927	1065	L>R		No	ClinGen gnomAD
CA403671104 rs1324279061	1066	R>*		No	ClinGen gnomAD
CA9135337 rs372010924	1066	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs762687424 CA403671092	1068	R>G		No	ClinGen ExAC gnomAD
CA9135335 rs367827848	1068	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1003150 rs762687424 COSM1003149 CA403671091	1068	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs769634226 CA9135334	1069	I>T		No	ClinGen ExAC gnomAD
CA9135333 rs748022366	1073	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1372697511 CA403671034	1076	S>L		No	ClinGen gnomAD
rs374854021 CA9135330	1080	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1265625710 CA403671001	1081	F>S		No	ClinGen gnomAD
rs776628963 CA304873306	1082	T>I		No	ClinGen gnomAD
rs779082944 CA9135329	1082	T>P		No	ClinGen ExAC gnomAD
CA403670987 rs1405898799	1083	C>*		No	ClinGen TOPMed
rs757374301 CA9135328	1084	H>Y		No	ClinGen ExAC gnomAD
CA9135327 COSM1003146 COSM1003147 rs777937157	1086	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1415586512 CA403670951	1087	V>L		No	ClinGen TOPMed gnomAD
rs867075117 CA304871698	1088	R>C		No	ClinGen TOPMed gnomAD
rs1377722635 CA403670945	1088	R>H		No	ClinGen gnomAD
CA403670925 rs1470025309	1092	V>M		No	ClinGen gnomAD
VAR_015924 rs909008899 CA304871672	1095	K>E	a NIDDM subject [UniProt]	No	ClinGen UniProt TOPMed dbSNP
rs1181860747 CA403670897	1096	G>D		No	ClinGen gnomAD
CA403670875 rs1209792886	1099	T>M		No	ClinGen gnomAD
rs985987131 CA304871666	1102	V>L		No	ClinGen TOPMed
CA403670854 rs1203185545	1103	M>T		No	ClinGen gnomAD
CA403670830 rs1599870912	1106	M>R		No	ClinGen Ensembl
CA9135305 rs755417938	1107	A>T		No	ClinGen ExAC gnomAD
rs752109912 CA9135304	1107	A>V		No	ClinGen ExAC gnomAD
CA9135302 rs757912647	1113	S>G		No	ClinGen ExAC gnomAD
rs749951195 CA9135301	1116	R>C		No	ClinGen ExAC gnomAD
CA403670739 rs1316627960	1116	R>H		No	ClinGen gnomAD
rs1400529673 CA403670737	1117	S>T		No	ClinGen gnomAD
CA403670716 rs1160859936	1119	R>Q		No	ClinGen gnomAD
CA403670687 rs1250061465	1122	A>P		No	ClinGen TOPMed
rs1454889999 CA403670671	1123	E>V		No	ClinGen gnomAD
rs752500268 CA9135262	1127	G>D		No	ClinGen ExAC TOPMed gnomAD
CA9135261 rs752500268	1127	G>V		No	ClinGen ExAC TOPMed gnomAD
rs767224035 CA9135260	1128	R>C		No	ClinGen ExAC TOPMed gnomAD
CA403670574 rs202160383	1128	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA304871432 rs867775513	1129	P>S		No	ClinGen Ensembl
rs1452393258 CA403670563	1130	P>A		No	ClinGen TOPMed gnomAD
CA9135257 rs766371813	1131	P>A		No	ClinGen ExAC TOPMed gnomAD
rs145519791 CA304871402	1131	P>L		No	ClinGen Ensembl
CA9135256 rs761851279	1132	T>A		No	ClinGen ExAC gnomAD
rs750379249 CA304871392	1134	Q>R		No	ClinGen Ensembl
rs931822732 CA304871383	1135	E>Q		No	ClinGen TOPMed
rs776740574 CA9135255	1136	M>I		No	ClinGen ExAC TOPMed gnomAD
rs760837943 CA9135253	1137	I>F		No	ClinGen ExAC gnomAD
RCV000502540 CA9135252 RCV001857113 rs775854644	1137	I>T		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA9135254 rs760837943	1137	I>V		No	ClinGen ExAC gnomAD
CA304871362 rs865855064	1139	M>I		No	ClinGen Ensembl
rs772334614 COSM1003141 CA9135251 COSM1003140	1140	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA403670443 rs1304803207	1141	A>G		No	ClinGen gnomAD
rs774990478 CA9135249	1144	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM271762 COSM271761 rs777183063 CA9135246	1152	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA403670276 rs1420695517	1156	V>A		No	ClinGen TOPMed
rs957304581 CA304871325	1157	H>R		No	ClinGen TOPMed
CA403670207 rs121913154	1162	A>V		No	ClinGen TOPMed
rs1174044022 CA403670163	1166	M>R		No	ClinGen gnomAD
rs926877336 CA304871279	1168	A>T		No	ClinGen Ensembl
CA403670125 rs1176658972	1169	H>L		No	ClinGen gnomAD
rs1176658972 CA403670126	1169	H>R		No	ClinGen gnomAD
rs1405739417 CA403670129	1169	H>Y		No	ClinGen gnomAD
rs766281845 CA9135240	1171	F>S		No	ClinGen ExAC gnomAD
rs1436376265 CA403670081	1173	V>A		No	ClinGen TOPMed
CA403669580 rs1333664981	1180	M>K		No	ClinGen gnomAD
rs1236792553 CA403669543	1185	Y>C		No	ClinGen gnomAD
CA9135214 rs766867210	1187	T>M		No	ClinGen ExAC TOPMed gnomAD
CA403669509 rs1448499462	1190	Y>H		No	ClinGen gnomAD
CA304869652 rs555633697	1192	K>Q		No	ClinGen Ensembl
CA403669491 rs1431315989	1193	G>R		No	ClinGen TOPMed gnomAD
rs1431315989 CA403669490	1193	G>W		No	ClinGen TOPMed gnomAD
CA403669484 rs1345131931	1194	G>C		No	ClinGen TOPMed
rs1268576076 CA403669476	1195	K>R		No	ClinGen gnomAD
CA403669445 rs1458915923	1200	V>A		No	ClinGen TOPMed
rs779765143 CA9135208	1206	E>G		No	ClinGen ExAC gnomAD
CA403669379 rs1251723810	1210	D>G		No	ClinGen gnomAD
CA9135204 rs757264298	1216	S>F		No	ClinGen ExAC gnomAD
rs1305419698 CA403669319	1219	M>I		No	ClinGen gnomAD
rs781430127 CA9135202	1219	M>V		No	ClinGen ExAC TOPMed gnomAD
rs777917515 CA9135175	1220	W>*		No	ClinGen ExAC TOPMed gnomAD
rs777917515 CA9135176	1220	W>C		No	ClinGen ExAC TOPMed gnomAD
CA9135173 rs747127077	1221	S>F		No	ClinGen ExAC
CA9135172 rs780403712	1223	G>C		No	ClinGen ExAC gnomAD
CA403669284 RCV000506622 rs1555734564	1223	G>D		No	ClinGen ClinVar Ensembl dbSNP
rs765638025 CA9135169	1224	V>M		No	ClinGen ExAC gnomAD
rs1599866214 CA403669271	1225	V>G		No	ClinGen Ensembl
CA403669261 rs121913140	1227	W>*		No	ClinGen gnomAD
CA304868146 rs143017342	1227	W>*		No	ClinGen Ensembl
CA304868145 rs149069397	1228	E>K		No	ClinGen Ensembl
rs754327246 CA403669250	1229	I>L		No	ClinGen ExAC gnomAD
CA9135165 rs754327246	1229	I>V		No	ClinGen ExAC gnomAD
CA403669194 rs1234699600	1237	Y>H		No	ClinGen TOPMed
CA9135162 rs775027642	1239	G>A		No	ClinGen ExAC gnomAD
rs1568425627 CA403669115	1248	F>S		No	ClinGen Ensembl
rs773962804 CA9135159	1250	M>V		No	ClinGen ExAC gnomAD
rs1599866118 CA403669076	1254	Y>D		No	ClinGen Ensembl
CA9135156 rs773256337	1258	P>H		No	ClinGen ExAC gnomAD
rs761847127 CA304866682	1267	D>E		No	ClinGen ExAC TOPMed gnomAD
rs761847127 CA403668968	1267	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1163843884 CA403668966	1268	L>V		No	ClinGen TOPMed gnomAD
rs375197837 CA9135135 RCV000597937	1269	M>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA403668958 rs1369921827	1269	M>T		No	ClinGen gnomAD
COSM1003129 CA9135133 RCV000996723 rs746000108	1270	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA403668951 rs746000108	1270	R>P		No	ClinGen ExAC TOPMed gnomAD
rs371841833 CA403668953	1270	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9135130 rs749603665	1271	M>I		No	ClinGen ExAC gnomAD
CA304866662 rs572751555	1271	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9135132 rs572751555	1271	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9135131 rs771104206	1271	M>T		No	ClinGen ExAC TOPMed gnomAD
CA304866650 rs992509566	1280	R>K		No	ClinGen Ensembl
CA403668864 rs1229042828	1282	T>N		No	ClinGen gnomAD
rs756542405 CA403668826	1288	N>I		No	ClinGen ExAC TOPMed gnomAD
CA403668824 rs1268743378	1288	N>K		No	ClinGen gnomAD
rs756542405 CA9135128 RCV000727925	1288	N>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs753193407 CA9135127	1290	L>F		No	ClinGen ExAC gnomAD
CA403668800 rs1404974137	1292	D>G		No	ClinGen TOPMed
rs959800826 CA304866620	1293	D>N		No	ClinGen gnomAD
CA9135125 rs754482816	1294	L>V		No	ClinGen ExAC gnomAD
CA304866613 rs113527718	1297	S>G		No	ClinGen TOPMed gnomAD
CA304866592 rs559399455	1299	P>L		No	ClinGen 1000Genomes
rs1301665267 CA403668704	1306	S>N		No	ClinGen TOPMed
rs1452511864 CA403668696	1307	E>G		No	ClinGen gnomAD
CA9135120 rs145697152	1307	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772180057 CA304866570	1308	E>V		No	ClinGen Ensembl
CA403668664 rs1222439781	1311	A>V		No	ClinGen gnomAD
CA9135117 rs768514435	1312	P>L		No	ClinGen ExAC gnomAD
rs201506342 CA9135118	1312	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA9135116 rs759636582	1313	E>K		No	ClinGen ExAC gnomAD
rs774314373 CA9135115	1314	S>T		No	ClinGen ExAC gnomAD
CA403668641 rs1232668568	1315	E>A		No	ClinGen gnomAD
CA403668645 rs1300273034	1315	E>K		No	ClinGen gnomAD
rs199599404 CA9135114	1319	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9135113 rs199599404	1319	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403668615 rs1599863704	1319	M>V		No	ClinGen Ensembl
CA403668605 rs1273690290	1320	E>G		No	ClinGen gnomAD
CA304866553 rs990716608	1323	D>E		No	ClinGen TOPMed
rs1351238099 CA403668574	1324	M>K		No	ClinGen gnomAD
CA403668576 rs1436625087	1324	M>L		No	ClinGen gnomAD
CA9135112 rs773485297	1326	N>S		No	ClinGen ExAC TOPMed gnomAD
CA9135110 rs374098153	1331	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs374098153 CA9135111	1331	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA403668528 rs1370871210	1331	R>H		No	ClinGen TOPMed gnomAD
rs781710569 CA9135109	1332	S>F		No	ClinGen ExAC gnomAD
rs1432736648 CA403668515	1333	S>L		No	ClinGen gnomAD
CA9135105 rs758067031	1335	C>W		No	ClinGen ExAC
rs1479080123 CA403668471	1339	E>D		No	ClinGen gnomAD
rs374120246 CA304866480	1339	E>K		No	ClinGen ESP
COSM240239 rs200400127 COSM1003123 CA9135104	1340	A>V	endometrium central_nervous_system prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs891605172 CA304866463	1341	G>E		No	ClinGen Ensembl
CA403668452 rs753624268	1343	R>P		No	ClinGen ExAC TOPMed gnomAD
rs757085718 CA9135102	1343	R>W		No	ClinGen ExAC gnomAD
CA9135100 rs764041031	1348	S>L		No	ClinGen ExAC TOPMed gnomAD
rs900594154 CA304866410	1349	L>P		No	ClinGen Ensembl
rs1351320424 CA403668413	1350	G>C		No	ClinGen TOPMed
rs774417734 CA9135098	1353	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9135099 rs74495977	1353	R>W		No	ClinGen ExAC gnomAD
rs766457461 CA9135097	1355	Y>H		No	ClinGen ExAC TOPMed gnomAD
COSM1254871 rs146490822 COSM1254870 CA9135095	1356	E>K	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA403668368 rs1568424078	1357	E>K		No	ClinGen Ensembl
CA403668358 rs1176785907	1358	H>Y		No	ClinGen TOPMed gnomAD
CA403668349 rs1416105138	1359	I>N		No	ClinGen gnomAD
rs1253014967 CA403668340	1360	P>L		No	ClinGen TOPMed
CA403668314 rs1417909943	1364	M>T		No	ClinGen Ensembl
CA403668316 rs1473018725	1364	M>V		No	ClinGen gnomAD
rs769141654 CA9135091	1365	N>D		No	ClinGen ExAC gnomAD
rs757977053 CA9135088	1372	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9135089 rs780670435	1372	R>W		No	ClinGen ExAC gnomAD
rs1226907418 CA403668242	1375	T>I		No	ClinGen gnomAD
CA403668230 rs1289891223	1377	P>S		No	ClinGen gnomAD
rs756988525 CA9135085	1378	R>G		No	ClinGen ExAC gnomAD
rs752575531 CA9135081	1382	S>F		No	ClinGen ExAC TOPMed gnomAD

5 associated diseases with P06213

[MIM: 262190]: Rabson-Mendenhall syndrome (RMS)

Severe insulin resistance syndrome characterized by insulin-resistant diabetes mellitus with pineal hyperplasia and somatic abnormalities. Typical features include coarse, senile-appearing facies, dental and skin abnormalities, abdominal distension, and phallic enlargement. Inheritance is autosomal recessive. {ECO:0000269|PubMed:10443650, ECO:0000269|PubMed:12023989, ECO:0000269|PubMed:17201797, ECO:0000269|PubMed:2121734, ECO:0000269|PubMed:2365819, ECO:0000269|PubMed:28765322, ECO:0000269|PubMed:8314008}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 246200]: Leprechaunism (LEPRCH)

Represents the most severe form of insulin resistance syndrome, characterized by intrauterine and postnatal growth retardation and death in early infancy. Inheritance is autosomal recessive. {ECO:0000269|PubMed:12023989, ECO:0000269|PubMed:12538626, ECO:0000269|PubMed:12970295, ECO:0000269|PubMed:1607067, ECO:0000269|PubMed:1730625, ECO:0000269|PubMed:22768670, ECO:0000269|PubMed:2365819, ECO:0000269|PubMed:24498630, ECO:0000269|PubMed:2479553, ECO:0000269|PubMed:2834824, ECO:0000269|PubMed:28765322, ECO:0000269|PubMed:7538143, ECO:0000269|PubMed:7815442, ECO:0000269|PubMed:8188715, ECO:0000269|PubMed:8326490, ECO:0000269|PubMed:8419945, ECO:0000269|PubMed:8636294, ECO:0000269|PubMed:9249867, ECO:0000269|PubMed:9299395, ECO:0000269|PubMed:9703342}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 125853]: Diabetes mellitus, non-insulin-dependent (NIDDM)

A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:1470163, ECO:0000269|PubMed:1607076, ECO:0000269|PubMed:7657032}. Note=The gene represented in this entry may be involved in disease pathogenesis.

[MIM: 609968]: Familial hyperinsulinemic hypoglycemia 5 (HHF5)

Familial hyperinsulinemic hypoglycemia [MIM:256450], also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. {ECO:0000269|PubMed:15161766}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 610549]: Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)

Characterized by the association of severe insulin resistance (manifested by marked hyperinsulinemia and a failure to respond to exogenous insulin) with the skin lesion acanthosis nigricans and ovarian hyperandrogenism in adolescent female subjects. Women frequently present with hirsutism, acne, amenorrhea or oligomenorrhea, and virilization. This syndrome is different from the type B that has been demonstrated to be secondary to the presence of circulating autoantibodies against the insulin receptor. {ECO:0000269|PubMed:10733238, ECO:0000269|PubMed:11260230, ECO:0000269|PubMed:12107746, ECO:0000269|PubMed:12970295, ECO:0000269|PubMed:1563582, ECO:0000269|PubMed:1963473, ECO:0000269|PubMed:2002058, ECO:0000269|PubMed:2168397, ECO:0000269|PubMed:2365819, ECO:0000269|PubMed:2544998, ECO:0000269|PubMed:28765322, ECO:0000269|PubMed:3283938, ECO:0000269|PubMed:8243830, ECO:0000269|PubMed:8288049, ECO:0000269|PubMed:8314008, ECO:0000269|PubMed:8388389, ECO:0000269|PubMed:9175790}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

Severe insulin resistance syndrome characterized by insulin-resistant diabetes mellitus with pineal hyperplasia and somatic abnormalities. Typical features include coarse, senile-appearing facies, dental and skin abnormalities, abdominal distension, and phallic enlargement. Inheritance is autosomal recessive. {ECO:0000269|PubMed:10443650, ECO:0000269|PubMed:12023989, ECO:0000269|PubMed:17201797, ECO:0000269|PubMed:2121734, ECO:0000269|PubMed:2365819, ECO:0000269|PubMed:28765322, ECO:0000269|PubMed:8314008}. Note=The disease is caused by variants affecting the gene represented in this entry.
Represents the most severe form of insulin resistance syndrome, characterized by intrauterine and postnatal growth retardation and death in early infancy. Inheritance is autosomal recessive. {ECO:0000269|PubMed:12023989, ECO:0000269|PubMed:12538626, ECO:0000269|PubMed:12970295, ECO:0000269|PubMed:1607067, ECO:0000269|PubMed:1730625, ECO:0000269|PubMed:22768670, ECO:0000269|PubMed:2365819, ECO:0000269|PubMed:24498630, ECO:0000269|PubMed:2479553, ECO:0000269|PubMed:2834824, ECO:0000269|PubMed:28765322, ECO:0000269|PubMed:7538143, ECO:0000269|PubMed:7815442, ECO:0000269|PubMed:8188715, ECO:0000269|PubMed:8326490, ECO:0000269|PubMed:8419945, ECO:0000269|PubMed:8636294, ECO:0000269|PubMed:9249867, ECO:0000269|PubMed:9299395, ECO:0000269|PubMed:9703342}. Note=The disease is caused by variants affecting the gene represented in this entry.
A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:1470163, ECO:0000269|PubMed:1607076, ECO:0000269|PubMed:7657032}. Note=The gene represented in this entry may be involved in disease pathogenesis.
Familial hyperinsulinemic hypoglycemia [MIM:256450], also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. {ECO:0000269|PubMed:15161766}. Note=The disease is caused by variants affecting the gene represented in this entry.
Characterized by the association of severe insulin resistance (manifested by marked hyperinsulinemia and a failure to respond to exogenous insulin) with the skin lesion acanthosis nigricans and ovarian hyperandrogenism in adolescent female subjects. Women frequently present with hirsutism, acne, amenorrhea or oligomenorrhea, and virilization. This syndrome is different from the type B that has been demonstrated to be secondary to the presence of circulating autoantibodies against the insulin receptor. {ECO:0000269|PubMed:10733238, ECO:0000269|PubMed:11260230, ECO:0000269|PubMed:12107746, ECO:0000269|PubMed:12970295, ECO:0000269|PubMed:1563582, ECO:0000269|PubMed:1963473, ECO:0000269|PubMed:2002058, ECO:0000269|PubMed:2168397, ECO:0000269|PubMed:2365819, ECO:0000269|PubMed:2544998, ECO:0000269|PubMed:28765322, ECO:0000269|PubMed:3283938, ECO:0000269|PubMed:8243830, ECO:0000269|PubMed:8288049, ECO:0000269|PubMed:8314008, ECO:0000269|PubMed:8388389, ECO:0000269|PubMed:9175790}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for P06213

Type	Name	Position	InterPro Accession
domain	DNA-binding RFX-type winged-helix domain	422 - 498	IPR003150
domain	RFX1 transcription activation region	210 - 365	IPR007668

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein Late endosome Lysosome	Binding of insulin to INSR induces internalization and lysosomal degradation of the receptor, a means for down-regulating this signaling pathway after stimulation In the presence of SORL1, internalized INSR molecules are redirected back to the cell surface, thereby preventing their lysosomal catabolism and strengthening insulin signal reception
PANTHER Family	PTHR24416	TYROSINE-PROTEIN KINASE RECEPTOR
PANTHER Subfamily	PTHR24416:SF535	INSULIN RECEPTOR
PANTHER Protein Class	transmembrane signal receptor
PANTHER Pathway Category	Gonadotropin-releasing hormone receptor pathway IR Insulin/IGF pathway-protein kinase B signaling cascade INSR IGF-R IRR Insulin/IGF pathway-mitogen activated protein kinase kinase/MAP kinase cascade INSR IGF-R IRR PI3 kinase pathway IR Insulin/IGF pathway-mitogen activated protein kinase kinase/MAP kinase cascade Insulin IGF

14 GO annotations of cellular component

Name	Definition
axon	The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
caveola	A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm.
dendrite membrane	The portion of the plasma membrane surrounding a dendrite.
endosome membrane	The lipid bilayer surrounding an endosome.
external side of plasma membrane	The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
insulin receptor complex	A disulfide-bonded, heterotetrameric receptor complex. The alpha chains are entirely extracellular, while each beta chain has one transmembrane domain. The ligand binds to the alpha subunit extracellular domain and the kinase is associated with the beta subunit intracellular domain.
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.
late endosome	A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center.
lysosome	A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
neuronal cell body membrane	The plasma membrane of a neuron cell body - excludes the plasma membrane of cell projections such as axons and dendrites.
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.

19 GO annotations of molecular function

Name	Definition
amyloid-beta binding	Binding to an amyloid-beta peptide/protein.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cargo receptor activity	Binding specifically to a substance (cargo) to deliver it to a transport vesicle. Cargo receptors span a membrane (either the plasma membrane or a vesicle membrane), binding simultaneously to cargo molecules and coat adaptors, to efficiently recruit soluble proteins to nascent vesicles.
GTP binding	Binding to GTP, guanosine triphosphate.
identical protein binding	Binding to an identical protein or proteins.
insulin binding	Binding to insulin, a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.
insulin receptor substrate binding	Binding to an insulin receptor substrate (IRS) protein, an adaptor protein that bind to the transphosphorylated insulin and insulin-like growth factor receptors, are themselves phosphorylated and in turn recruit SH2 domain-containing signaling molecules to form a productive signaling complex.
insulin-activated receptor activity	Combining with insulin receptor ligand and transmitting the signal across the plasma membrane to initiate a change in cell activity.
insulin-like growth factor I binding	Binding to insulin-like growth factor I.
insulin-like growth factor II binding	Binding to insulin-like growth factor II.
insulin-like growth factor receptor binding	Binding to an insulin-like growth factor receptor.
phosphatidylinositol 3-kinase binding	Binding to a phosphatidylinositol 3-kinase, any enzyme that catalyzes the addition of a phosphate group to an inositol lipid at the 3' position of the inositol ring.
protein domain specific binding	Binding to a specific domain of a protein.
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.
protein-containing complex binding	Binding to a macromolecular complex.
PTB domain binding	Binding to a phosphotyrosine-binding (PTB) Binding to a phosphotyrosine-bindin domain.
structural molecule activity	The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell.
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.

49 GO annotations of biological process

Name	Definition
activation of protein kinase activity	Any process that initiates the activity of an inactive protein kinase.
activation of protein kinase B activity	Any process that initiates the activity of the inactive enzyme protein kinase B.
adrenal gland development	The process whose specific outcome is the progression of the adrenal gland over time, from its formation to the mature structure. This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells.
amyloid-beta clearance	The process in which amyloid-beta is removed from extracellular brain regions by mechanisms involving cell surface receptors.
carbohydrate metabolic process	The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y.
cellular response to growth 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 growth factor stimulus.
cellular response to insulin 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 an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.
dendritic spine maintenance	The organization process that preserves a dendritic spine in a stable functional or structural state. A dendritic spine is a specialized protrusion from a neuronal dendrite and is involved in synaptic transmission.
epidermis development	The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species.
exocrine pancreas development	The process whose specific outcome is the progression of the exocrine pancreas over time, from its formation to the mature structure. The exocrine pancreas produces and store zymogens of digestive enzymes, such as chymotrypsinogen and trypsinogen in the acinar cells.
G protein-coupled receptor signaling pathway	The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
glucose homeostasis	Any process involved in the maintenance of an internal steady state of glucose within an organism or cell.
heart morphogenesis	The developmental process in which the heart is generated and organized. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
insulin receptor signaling pathway	The series of molecular signals generated as a consequence of the insulin receptor binding to insulin.
learning	Any process in an organism in which a relatively long-lasting adaptive behavioral change occurs as the result of experience.
male gonad development	The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure.
male sex determination	The specification of male sex of an individual organism.
memory	The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task).
neuron projection maintenance	The organization process that preserves a neuron projection in a stable functional or structural state. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
peptidyl-tyrosine autophosphorylation	The phosphorylation by a protein of one or more of its own tyrosine amino acid residues, or a tyrosine residue on an identical protein.
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of developmental growth	Any process that activates, maintains or increases the rate of developmental growth.
positive regulation of glucose import	Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle.
positive regulation of glycogen biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glycogen.
positive regulation of glycolytic process	Any process that activates or increases the frequency, rate or extent of glycolysis.
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 MAP kinase activity	Any process that activates or increases the frequency, rate or extent of MAP kinase activity.
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of meiotic cell cycle	Any process that activates or increases the frequency, rate or extent of progression through the meiotic cell cycle.
positive regulation of mitotic nuclear division	Any process that activates or increases the frequency, rate or extent of mitosis.
positive regulation of nitric oxide biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nitric oxide.
positive regulation of phosphatidylinositol 3-kinase signaling	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
positive regulation of protein kinase B signaling	Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
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-containing complex disassembly	Any process that activates or increases the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components.
positive regulation of receptor internalization	Any process that activates or increases the frequency, rate or extent of receptor internalization.
positive regulation of respiratory burst	Any process that increases the rate frequency or extent of a phase of elevated metabolic activity, during which oxygen consumption increases; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals.
positive regulation of transcription, DNA-templated	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
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.
receptor-mediated endocytosis	An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles.
regulation of embryonic development	Any process that modulates the frequency, rate or extent of embryonic development.
regulation of female gonad development	Any process that modulates the frequency, rate or extent of female gonad development.
regulation of transcription, DNA-templated	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
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.
transport across blood-brain barrier	The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier.
viral entry into host cell	The process that occurs after viral attachment by which a virus, or viral nucleic acid, breaches the plasma membrane or cell envelope and enters the host cell. The process ends when the viral nucleic acid is released into the host cell cytoplasm.

76 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q05688	IGF1R	Insulin-like growth factor 1 receptor	Bos taurus (Bovine)	SS
P09208	InR	Insulin-like receptor	Drosophila melanogaster (Fruit fly)	SS
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
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
P07333	CSF1R	Macrophage colony-stimulating factor 1 receptor	Homo sapiens (Human)	SS
P16234	PDGFRA	Platelet-derived growth factor receptor alpha	Homo sapiens (Human)	EV
P36888	FLT3	Receptor-type tyrosine-protein kinase FLT3	Homo sapiens (Human)	EV
Q60751	Igf1r	Insulin-like growth factor 1 receptor	Mus musculus (Mouse)	SS
Q9WTL4	Insrr	Insulin receptor-related protein	Mus musculus (Mouse)	SS
P15208	Insr	Insulin receptor	Mus musculus (Mouse)	SS
Q64716	Insrr	Insulin receptor-related protein	Rattus norvegicus (Rat)	SS
P24062	Igf1r	Insulin-like growth factor 1 receptor	Rattus norvegicus (Rat)	SS
P15127	Insr	Insulin receptor	Rattus norvegicus (Rat)	SS
O64770	At1g61490	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61490	Arabidopsis thaliana (Mouse-ear cress)	SS
O64783	At1g61370	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61370	Arabidopsis thaliana (Mouse-ear cress)	SS
O81833	SD11	G-type lectin S-receptor-like serine/threonine-protein kinase SD1-1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q0WNY5	WAKL18	Wall-associated receptor kinase-like 18	Arabidopsis thaliana (Mouse-ear cress)	PR
Q7X8C5	WAKL2	Wall-associated receptor kinase-like 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8VYA3	WAKL10	Wall-associated receptor kinase-like 10	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9C9L5	WAKL9	Wall-associated receptor kinase-like 9	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LMN7	WAK5	Wall-associated receptor kinase 5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LPZ9	SD113	G-type lectin S-receptor-like serine/threonine-protein kinase SD1-13	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9LSV3	WAKL16	Putative wall-associated receptor kinase-like 16	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LW83	CES101	G-type lectin S-receptor-like serine/threonine-protein kinase CES101	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M092	WAKL17	Wall-associated receptor kinase-like 17	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M342	WAKL15	Wall-associated receptor kinase-like 15	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9S9M2	WAKL4	Wall-associated receptor kinase-like 4	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SXB5	At1g11303	G-type lectin S-receptor-like serine/threonine-protein kinase At1g11303	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SYA0	At1g61500	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61500	Arabidopsis thaliana (Mouse-ear cress)	SS
O64778	At1g61420	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61420	Arabidopsis thaliana (Mouse-ear cress)	SS
O64774	At1g61460	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61460	Arabidopsis thaliana (Mouse-ear cress)	PR
O64780	At1g61400	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61400	Arabidopsis thaliana (Mouse-ear cress)	SS
O64477	At2g19130	G-type lectin S-receptor-like serine/threonine-protein kinase At2g19130	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9SXB4	At1g11300	G-type lectin S-receptor-like serine/threonine-protein kinase At1g11300	Arabidopsis thaliana (Mouse-ear cress)	PR
O64782	SD129	G-type lectin S-receptor-like serine/threonine-protein kinase SD1-29	Arabidopsis thaliana (Mouse-ear cress)	SS
O64776	At1g61440	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61440	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9SY95	At1g61550	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61550	Arabidopsis thaliana (Mouse-ear cress)	SS
O64793	At1g67520	G-type lectin S-receptor-like serine/threonine-protein kinase At1g67520	Arabidopsis thaliana (Mouse-ear cress)	PR
O64784	At1g61360	G-type lectin S-receptor-like serine/threonine-protein kinase At1g61360	Arabidopsis thaliana (Mouse-ear cress)	SS
Q39203	SD22	G-type lectin S-receptor-like serine/threonine-protein kinase SD2-2	Arabidopsis thaliana (Mouse-ear cress)	SS

10	20	30	40	50	60
MATGGRRGAA	AAPLLVAVAA	LLLGAAGHLY	PGEVCPGMDI	RNNLTRLHEL	ENCSVIEGHL
70	80	90	100	110	120
QILLMFKTRP	EDFRDLSFPK	LIMITDYLLL	FRVYGLESLK	DLFPNLTVIR	GSRLFFNYAL
130	140	150	160	170	180
VIFEMVHLKE	LGLYNLMNIT	RGSVRIEKNN	ELCYLATIDW	SRILDSVEDN	YIVLNKDDNE
190	200	210	220	230	240
ECGDICPGTA	KGKTNCPATV	INGQFVERCW	THSHCQKVCP	TICKSHGCTA	EGLCCHSECL
250	260	270	280	290	300
GNCSQPDDPT	KCVACRNFYL	DGRCVETCPP	PYYHFQDWRC	VNFSFCQDLH	HKCKNSRRQG
310	320	330	340	350	360
CHQYVIHNNK	CIPECPSGYT	MNSSNLLCTP	CLGPCPKVCH	LLEGEKTIDS	VTSAQELRGC
370	380	390	400	410	420
TVINGSLIIN	IRGGNNLAAE	LEANLGLIEE	ISGYLKIRRS	YALVSLSFFR	KLRLIRGETL
430	440	450	460	470	480
EIGNYSFYAL	DNQNLRQLWD	WSKHNLTITQ	GKLFFHYNPK	LCLSEIHKME	EVSGTKGRQE
490	500	510	520	530	540
RNDIALKTNG	DQASCENELL	KFSYIRTSFD	KILLRWEPYW	PPDFRDLLGF	MLFYKEAPYQ
550	560	570	580	590	600
NVTEFDGQDA	CGSNSWTVVD	IDPPLRSNDP	KSQNHPGWLM	RGLKPWTQYA	IFVKTLVTFS
610	620	630	640	650	660
DERRTYGAKS	DIIYVQTDAT	NPSVPLDPIS	VSNSSSQIIL	KWKPPSDPNG	NITHYLVFWE
670	680	690	700	710	720
RQAEDSELFE	LDYCLKGLKL	PSRTWSPPFE	SEDSQKHNQS	EYEDSAGECC	SCPKTDSQIL
730	740	750	760	770	780
KELEESSFRK	TFEDYLHNVV	FVPRKTSSGT	GAEDPRPSRK	RRSLGDVGNV	TVAVPTVAAF
790	800	810	820	830	840
PNTSSTSVPT	SPEEHRPFEK	VVNKESLVIS	GLRHFTGYRI	ELQACNQDTP	EERCSVAAYV
850	860	870	880	890	900
SARTMPEAKA	DDIVGPVTHE	IFENNVVHLM	WQEPKEPNGL	IVLYEVSYRR	YGDEELHLCV
910	920	930	940	950	960
SRKHFALERG	CRLRGLSPGN	YSVRIRATSL	AGNGSWTEPT	YFYVTDYLDV	PSNIAKIIIG
970	980	990	1000	1010	1020
PLIFVFLFSV	VIGSIYLFLR	KRQPDGPLGP	LYASSNPEYL	SASDVFPCSV	YVPDEWEVSR
1030	1040	1050	1060	1070	1080
EKITLLRELG	QGSFGMVYEG	NARDIIKGEA	ETRVAVKTVN	ESASLRERIE	FLNEASVMKG
1090	1100	1110	1120	1130	1140
FTCHHVVRLL	GVVSKGQPTL	VVMELMAHGD	LKSYLRSLRP	EAENNPGRPP	PTLQEMIQMA
1150	1160	1170	1180	1190	1200
AEIADGMAYL	NAKKFVHRDL	AARNCMVAHD	FTVKIGDFGM	TRDIYETDYY	RKGGKGLLPV
1210	1220	1230	1240	1250	1260
RWMAPESLKD	GVFTTSSDMW	SFGVVLWEIT	SLAEQPYQGL	SNEQVLKFVM	DGGYLDQPDN
1270	1280	1290	1300	1310	1320
CPERVTDLMR	MCWQFNPKMR	PTFLEIVNLL	KDDLHPSFPE	VSFFHSEENK	APESEELEME
1330	1340	1350	1360	1370	1380
FEDMENVPLD	RSSHCQREEA	GGRDGGSSLG	FKRSYEEHIP	YTHMNGGKKN	GRILTLPRSN

PS