AiPD: Autoinhibited Protein Database

P07949

Gene name	RET
Protein name	Proto-oncogene tyrosine-protein kinase receptor Ret
Names	Cadherin family member 12, Proto-oncogene c-Ret
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5979
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class	TYROSINE-PROTEIN KINASE RECEPTOR (PTHR24416)

Descriptions

Proto-oncogene tyrosine-protein kinase receptor Ret is a receptor tyrosine kinase for the glial cell line-derived neurotrophic factor family of ligands. RET signaling is essential for development, survival, and regeneration of many neuronal populations in the enteric and sympathetic nervous systems and the kidney. Within the RET intracellular domain, there is no cis-inhibitory domain. Instead, there are alternative inhibitory mechanisms, possibly in trans, for the autoregulation of RET kinase activity. The first contact area within the dimer involves residues 763-767. The residues 763-767 in an extended conformation masks the substrate-binding site of the second molecule. A second contact area in the dimer involves helix αN (residues 712-714) interacting with the side chains of the second molecule. The dimer structure represents a trans-inhibited state.

Autoinhibitory domains (AIDs)

Target domain	724-1016 (Protein kinase domain)
Relief mechanism	Ligand binding, PTM
Assay	Mutagenesis experiment, Structural analysis

AID

712-714 (Helix αN)

Target domain

724-1016 (Protein kinase domain)

Relief mechanism

Ligand binding (Binding of the glial cell line-derived neurotrophic factor (GDNF) family ligand), PTM (Phosphorylation at Tyr-905)

Assay

Mutagenesis experiment, Structural analysis

Target domain	724-1016 (Protein kinase domain)
Relief mechanism	Ligand binding, PTM
Assay	Mutagenesis experiment, Structural analysis

AID

763-767 (Autoinhibitory segment)

Target domain

724-1016 (Protein kinase domain)

Relief mechanism

Ligand binding (Binding of the glial cell line-derived neurotrophic factor (GDNF) family ligand), PTM (Phosphorylation at Tyr-905)

Assay

Mutagenesis experiment, Structural analysis

Accessory elements

891-916 (Activation loop from InterPro)

Target domain	724-1016 (Protein kinase domain)
Relief mechanism
Assay

References

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

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

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

Autoinhibited structure

Activated structure

35 structures for P07949

Entry ID	Method	Resolution	Chain	Position	Source
2IVS	X-ray	200 A	A/B	705-1013	PDB
2IVT	X-ray	260 A	A	705-1013	PDB
2IVU	X-ray	250 A	A	705-1013	PDB
2IVV	X-ray	225 A	A	705-1013	PDB
2X2K	X-ray	260 A	A	705-1013	PDB
2X2L	X-ray	200 A	A	705-1013	PDB
2X2M	X-ray	250 A	A/B	705-1013	PDB
2X2U	X-ray	200 A	A	29-270	PDB
4CKI	X-ray	212 A	A	705-1013	PDB
4CKJ	X-ray	165 A	A	705-1013	PDB
4UX8	EM	2400 A	A/B	29-635	PDB
5AMN	X-ray	257 A	A	705-1012	PDB
5FM2	X-ray	330 A	A	659-1013	PDB
5FM3	X-ray	295 A	A	659-1013	PDB
6FEK	X-ray	230 A	A	705-1013	PDB
6GL7	EM	630 A	E/F	29-635	PDB
6I82	X-ray	205 A	A/B	705-1013	PDB
6I83	X-ray	188 A	A	705-1013	PDB
6NE7	X-ray	199 A	A	705-1013	PDB
6NEC	X-ray	187 A	A/C	705-1013	PDB
6NJA	X-ray	192 A	A	705-1013	PDB
6Q2J	EM	410 A	E/F	29-635	PDB
6Q2N	EM	440 A	E/F	29-635	PDB
6Q2O	EM	365 A	E/F	29-635	PDB
6Q2R	EM	430 A	E/F/Y/Z	29-635	PDB
6Q2S	EM	380 A	E/F	29-635	PDB
6VHG	X-ray	230 A	A	705-1013	PDB
7DU8	X-ray	275 A	A/B	705-1013	PDB
7DU9	X-ray	231 A	A/B	705-1013	PDB
7DUA	X-ray	164 A	A/B	705-1013	PDB
7JU5	X-ray	190 A	A/B	705-1013	PDB
7JU6	X-ray	206 A	A/B	705-1013	PDB
7NZN	X-ray	239 A	A	705-1013	PDB
7RUN	X-ray	351 A	A/B	705-1013	PDB
AF-P07949-F1	Predicted				AlphaFoldDB

1185 variants for P07949

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA009398 VAR_006295 rs76764689	32	S>L	HSCR1; familial form [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
rs77596424 CA008426 VAR_006296	64	P>L	HSCR1; familial form [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
VAR_006297 rs1477699803 CA376770471	93	G>S	HSCR1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
VAR_067101 CA043390 rs747483905	114	R>C	HSCR1; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
COSM33280 rs1588863999 VAR_035711 CA376770818	145	V>G	HSCR1; also in a colorectal cancer sample; somatic mutation large_intestine [UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt Ensembl dbSNP
CA009319 COSM3686739 VAR_006299 COSM3686738 rs79661516	231	R>H	HSCR1; familial form large_intestine [UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt Ensembl dbSNP
rs562449603 CA206256826 VAR_006300	251	E>K	HSCR1; familial form [UniProt]	Yes	ClinGen UniProt 1000Genomes dbSNP
rs541929171 CA045050 VAR_067104	278	T>A	HSCR1 [UniProt]	Yes	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1564491460 CA376545422 VAR_006301	287	R>Q	HSCR1; sporadic form [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
rs77702891 CA009384 VAR_009465	313	R>Q	HSCR1 [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1060499894 CA16609750 VAR_067107	316	S>I	HSCR1 [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
COSM427545 CA009415 rs80236571 VAR_006302	330	R>Q	HSCR1 breast [UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt Ensembl dbSNP
CA030658 VAR_067108 rs774829203	339	S>L	HSCR1 [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA031401 rs762472027 VAR_067110	360	R>Q	HSCR1 [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
CA007467 VAR_006303 rs78098482	393	F>L	HSCR1; familial form [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
rs183729115 VAR_067111 CA032076	397	V>M	HSCR1 [UniProt]	Yes	ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD
VAR_006304 rs1554818362 CA376547754	399	P>L	HSCR1; sporadic form [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
rs746970700 VAR_067112 CA032249	412	V>M	HSCR1 [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
rs767601598 VAR_067113 COSM3728262 CA032731 COSM3728263	423	G>R	HSCR1 haematopoietic_and_lymphoid_tissue [UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD
VAR_006305 rs138624658 CA007571	475	R>Q	HSCR1; sporadic form [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA007585 VAR_067114 rs537874538	480	E>K	HSCR1 [UniProt]	Yes	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA376552526 VAR_067116 rs1483605155	595	E>Q	HSCR1 [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP gnomAD
rs77558292 VAR_009470 CA007815	609	C>G	MEN2A [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
CA007804 rs77558292 VAR_009471	609	C>R	MEN2A [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
CA007855 VAR_006307 rs377767396	609	C>W	HSCR1; familial form [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
CA007824 COSM967 VAR_006306 rs77939446	609	C>Y	adrenal_gland MTC, MEN2A and HSCR1; familial and sporadic forms [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD
CA007883 rs377767391 VAR_009472	611	C>G	MTC; familial form [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
rs377767391 VAR_009473 CA007873	611	C>R	MEN2A [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
rs377767391 VAR_009474 CA007864	611	C>S	MEN2A [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
rs80069458 CA007954 VAR_006308	611	C>W	MEN2A and MTC; familial form [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
rs377767397 CA007934 VAR_006309	611	C>Y	MEN2A [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
CA008022 rs79781594 VAR_006312	618	C>F	MEN2A and MTC; familial form [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
CA007995 VAR_006310 rs76262710	618	C>G	MEN2A [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
VAR_006311 CA007985 COSM29803 rs76262710	618	C>R	MEN2A, MTC and HSCR1 thyroid [UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt ExAC dbSNP gnomAD
VAR_006313 rs79781594 CA008013	618	C>S	MEN2A, HSCR1 and MTC; familial and sporadic forms [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
COSM980 VAR_006314 rs79781594 CA008005	618	C>Y	thyroid adrenal_gland MEN2A and MTC; familial form [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt TOPMed dbSNP
rs77503355 VAR_006318 CA008094	620	C>F	MEN2A and MTC; familial form [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
VAR_006315 CA008066 rs77316810	620	C>G	MEN2A and MTC; familial and sporadic forms [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
CA008055 VAR_006316 rs77316810 COSM29804	620	C>R	thyroid MEN2A, MTC and HSCR1; familial and sporadic forms [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt Ensembl dbSNP
COSM29805 rs77503355 VAR_006317 CA008085	620	C>S	thyroid MEN2A and MTC; familial form [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt TOPMed dbSNP
VAR_009475 rs79890926 CA008105	620	C>W	MEN2A and HSCR1 [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
rs77503355 CA008076 VAR_006319	620	C>Y	MEN2A [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
CA376552860 rs1255575160 VAR_009476	626	Q>K	HSCR1; sporadic form [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
VAR_006320 rs377767405 CA008173	630	C>F	MEN2A and MTC; familial form [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
VAR_009477 rs377767405 COSM1237917 CA008164	630	C>S	thyroid MTC; sporadic form [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt Ensembl dbSNP
VAR_009478 rs377767405 CA008154	630	C>Y	MTC; familial and sporadic forms [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
VAR_006322 CA008271 rs377767408	632	E>DVR	MEN2A [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
CA008370 COSM1237919 VAR_006324 rs75996173	634	C>F	thyroid MEN2A and pheochromocytoma [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt ExAC dbSNP gnomAD
rs75076352 COSM1738369 VAR_006323 CA008324	634	C>G	adrenal_gland MEN2A and pheochromocytoma [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt ExAC dbSNP gnomAD
VAR_006326 CA008315 COSM966 rs75076352	634	C>R	thyroid adrenal_gland MEN2A, pheochromocytoma and MTC; familial form; also found as somatic mutation in a sporadic thyroid carcinoma [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt ExAC dbSNP gnomAD
rs75076352 COSM1237918 CA008307 VAR_006327	634	C>S	MEN2A, pheochromocytoma and MTC; familial form thyroid [UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt ExAC dbSNP gnomAD
VAR_006328 rs77709286 COSM975 CA008378	634	C>W	MEN2A, pheochromocytoma and MTC; familial form thyroid [UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt dbSNP gnomAD
VAR_006325 COSM974 CA008348 rs75996173	634	C>Y	MEN2A, pheochromocytoma and MTC; familial form thyroid adrenal_gland [UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt ExAC dbSNP gnomAD
rs78935588 CA008417 VAR_009480	640	A>G	MEN2A [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
rs141185224 CA008578 VAR_067118	694	R>Q	HSCR1 [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs75075748 VAR_009493 CA008632	765	S>P	HSCR1 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
COSM21338 CA008641 rs78014899 VAR_006335	768	E>D	MTC; familial and sporadic forms thyroid [UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD
rs587778656 VAR_067119 CA038646	783	N>S	HSCR1 [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
VAR_009482 CA008709 rs75030001	790	L>F	MEN2A and MTC; familial form [UniProt]	Yes	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA008726 COSM1159820 rs77724903 VAR_009483	791	Y>F	adrenal_gland HSCR1, pheochromocytoma, MTC and MEN2A; familial form haematopoietic_and_lymphoid_tissue [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_006336 CA008766 rs79658334	804	V>L	MTC; familial form [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_006337 rs79658334 CA008751	804	V>M	MTC; familial form [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_009484 rs1318733775 CA376556155	813	R>Q	HSCR1; sporadic form [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
rs200127630 VAR_067120 CA039416	830	G>R	HSCR1 [UniProt]	Yes	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs55947360 CA008885 VAR_011582	844	R>L	MTC; familial form [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1451004715 VAR_006338 CA376556995	873	R>Q	HSCR1; sporadic form [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
VAR_009485 rs377767429 COSM977 COSM981 CA008962	883	A>F	thyroid MEN2B; somatic mutation in sporadic medullary thyroid carcinoma; requires 2 nucleotide substitutions [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt Ensembl dbSNP
VAR_009486 rs75234356 CA008989	891	S>A	MTC; familial form [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP gnomAD
CA009008 rs76087194 VAR_006340	897	R>Q	HSCR1; sporadic form [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
rs377767430 CA009042 VAR_006341	907	K>E	HSCR1; sporadic form [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
VAR_006342 CA009082 rs74799832 COSM965	918	M>T	thyroid adrenal_gland MEN2B and MTC; sporadic form; somatic mutation; also found in a patient with renal agenesis breast [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt dbSNP gnomAD
CA206267151 rs377767432 VAR_012745	922	S>F	MTC; sporadic form [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
CA009130 VAR_006346 rs76534745	972	R>G	HSCR1; familial form [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
rs79853121 VAR_018157 CA009200	1039	P>L	HSCR1 [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1564501947 VAR_067123 CA376558498	1052	L>V	HSCR1 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
CA042952 VAR_009490 rs536486113	1061	L>P	HSCR1 [UniProt]	Yes	ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD
rs587778659 CA009211 VAR_067124	1062	Y>C	HSCR1 [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs149513065 CA010903 RCV000569531 RCV000148784 RCV000557293 VAR_009491	1064	M>T	Multiple endocrine neoplasia, type 2 HSCR1; familial form Hereditary cancer-predisposing syndrome Aganglionic megacolon [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000695357 rs180700967 CA054749	1066	D>H	Multiple endocrine neoplasia, type 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA054755 RCV000654601 VAR_044398 RCV000663067 rs775583354	1067	P>S	a patient with renal agenesis; unknown pathological significance; prevents phosphorylation in response to GDNF Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia, type 2a [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs878855063 RCV000231461	1068	N>missing	Multiple endocrine neoplasia, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA376558815 RCV001019206 rs768699100	1068	N>K	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs776615468 CA054795 RCV000409674 RCV000411663 RCV000204078	1069	W>S	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia, type 2b Multiple endocrine neoplasia, type 2a [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1838374810 RCV001258057 RCV001879982	1075	V>missing	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia, type 2b [ClinVar]	Yes	ClinVar dbSNP
CA054844 RCV000466142 rs762952212	1078	T>M	Multiple endocrine neoplasia, type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA206268156 rs762952212 RCV001019343	1078	T>R	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs745955777 CA054879 RCV000456480	1081	D>N	Multiple endocrine neoplasia, type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA376558964 rs1554820310 RCV000560849	1082	G>D	Multiple endocrine neoplasia, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1838375749 RCV001316280	1083	T>missing	Multiple endocrine neoplasia, type 2 [ClinVar]	Yes	ClinVar dbSNP
CA10582728 rs878855064 RCV000226511	1083	T>A	Multiple endocrine neoplasia, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA054923 RCV000688843 rs778452896	1086	G>R	Multiple endocrine neoplasia, type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA376559072 RCV000693763 rs1564502605	1091	P>T	Multiple endocrine neoplasia, type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000654553 rs1198591686 CA376559124	1094	S>N	Multiple endocrine neoplasia, type 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000689814 rs1171787901 CA376559119	1094	S>R	Multiple endocrine neoplasia, type 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000654578 CA054997 rs768752146	1096	Y>C	Multiple endocrine neoplasia, type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001019674 CA376559152 rs1588881946	1097	A>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001873321 rs1298393691 CA376559175 RCV001019747	1098	N>K	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000456051 RCV000662469 rs532862288 RCV000463602 CA010953 RCV000763652 RCV001019923	1105	A>V	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 2a Congenital central hypoventilation [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000679747 RCV000123321 rs587780813 CA010962 RCV000573076	1109	M>T	Multiple endocrine neoplasia, type 2 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000562354 rs1554820326	1114	S>*	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
CA376768005 rs1564480827	3	K>E		No	ClinGen Ensembl
CA376768023 rs1444096302	5	T>M		No	ClinGen gnomAD
CA376768026 rs1588848475	6	S>A		No	ClinGen Ensembl
rs1366681125 CA376768033	7	G>D		No	ClinGen TOPMed gnomAD
rs1257661718 CA376768030	7	G>S		No	ClinGen gnomAD
rs1366681125 CA376768035	7	G>V		No	ClinGen TOPMed gnomAD
CA376768036 rs1476325851	8	A>T		No	ClinGen gnomAD
rs1168334949 CA376768041	8	A>V		No	ClinGen gnomAD
rs1303812507 CA376768051	10	G>A		No	ClinGen TOPMed
rs587780812 CA206710333	11	L>M		No	ClinGen TOPMed gnomAD
CA009216 rs587780812	11	L>V		No	ClinGen TOPMed gnomAD
CA376768082 rs1564480893	16	L>Q		No	ClinGen Ensembl
rs1328756940 CA376768085	17	L>M		No	ClinGen gnomAD
CA376768100 rs1205904653	20	P>S		No	ClinGen gnomAD
rs1461009997 CA376768110	21	L>R		No	ClinGen gnomAD
CA376768119 rs1554815546	23	G>D		No	ClinGen Ensembl
rs1198827347 CA376768117	23	G>R		No	ClinGen gnomAD
CA376768124 rs1263923038	24	K>E		No	ClinGen gnomAD
rs1554817350 CA376770037	26	A>S		No	ClinGen Ensembl
rs779905135 CA045033	28	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1399243256 CA376770061	30	Y>H		No	ClinGen TOPMed
CA206713118 rs984301854	35	A>T		No	ClinGen Ensembl
CA376770099 rs1220655426	35	A>V		No	ClinGen gnomAD
CA376770113 rs1564489315	37	W>*		No	ClinGen Ensembl
CA031539 rs777042445	37	W>R		No	ClinGen ExAC gnomAD
CA376770120 rs1588862401	38	E>V		No	ClinGen Ensembl
CA032341 rs773375434	42	V>A		No	ClinGen ExAC TOPMed gnomAD
CA376770156 rs1488040686	43	D>E		No	ClinGen TOPMed gnomAD
rs763526874 CA376770169	45	A>E		No	ClinGen ExAC TOPMed gnomAD
rs763526874 CA033180	45	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1419255561 CA376770172	46	A>P		No	ClinGen gnomAD
rs1419255561 CA376770173	46	A>S		No	ClinGen gnomAD
rs529018971 CA033463	47	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376770187 rs1427186016 COSM1347795	48	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs866099980 CA376770213	52	Y>*		No	ClinGen TOPMed gnomAD
rs547308774 CA034527	53	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA034670 rs756858300	54	H>R		No	ClinGen ExAC gnomAD
rs1446283609 CA376770231	55	A>V		No	ClinGen gnomAD
CA007702 rs145633958	56	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779915615 CA035162	57	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs876658284 CA10578857	57	R>W		No	ClinGen TOPMed gnomAD
CA376770239 rs1321002969	58	D>N		No	ClinGen gnomAD
CA035435 rs376565365	59	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA376770251 rs1554817372	59	A>V		No	ClinGen Ensembl
CA376770255 rs1405257965	60	P>L		No	ClinGen TOPMed
rs748402485 CA035676	60	P>S		No	ClinGen ExAC TOPMed gnomAD
rs748402485 CA16613047	60	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1564489398 CA376770261	61	E>A		No	ClinGen Ensembl
rs770081020 CA036079	63	V>L		No	ClinGen ExAC gnomAD
rs1162598981 CA376770282	65	S>G		No	ClinGen TOPMed
CA036802 rs749390385	67	R>C		No	ClinGen ExAC TOPMed gnomAD
CA008548 rs192489011 VAR_018153	67	R>H	Renal hypodysplasia/aplasia 1 (rhda1) [Ensembl]	No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs192489011 CA376770299	67	R>L	Renal hypodysplasia/aplasia 1 (rhda1) [Ensembl]	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376770312 rs1465353841	70	Q>K		No	ClinGen gnomAD
CA376770316 rs1329573334	70	Q>R		No	ClinGen gnomAD
rs764938319 CA037807	74	G>S		No	ClinGen ExAC TOPMed gnomAD
rs142641173 CA038004	75	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
COSM294752 rs570176656 CA038543	77	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA376770360 rs1588862595	77	R>S		No	ClinGen Ensembl
CA376770372 rs1318325737	79	R>Q		No	ClinGen TOPMed gnomAD
rs537523906 CA038673	79	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376770381 rs1275748857	81	H>D		No	ClinGen TOPMed
rs1217729118 CA376770384	81	H>R		No	ClinGen gnomAD
rs754912942 CA039590	84	N>K		No	ClinGen ExAC gnomAD
CA376770430 rs1462347303	87	C>Y		No	ClinGen gnomAD
rs141679950 CA040257	88	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs141679950 CA008946	88	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1564489449 CA376770444	89	Q>R		No	ClinGen Ensembl
rs1588862638 CA376770450	90	E>*		No	ClinGen Ensembl
CA376770465 rs1188786351	92	T>A		No	ClinGen gnomAD
CA376770464 rs1188786351	92	T>P		No	ClinGen gnomAD
rs749500174 CA041821	99	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA376770511 rs1333641674	99	R>W		No	ClinGen gnomAD
CA376770519 rs1554817407	100	S>N		No	ClinGen Ensembl
rs201244749 CA009176	102	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA042516 rs375390467	103	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1217820916 CA376770535	103	H>Y		No	ClinGen gnomAD
CA376770548 rs746378333	104	S>R		No	ClinGen ExAC gnomAD
CA376770554 rs1588862705	105	S>F		No	ClinGen Ensembl
rs1025290394 CA206713123	107	E>K		No	ClinGen Ensembl
CA043105 rs775974393	108	K>N		No	ClinGen ExAC gnomAD
rs567877611 CA043092	108	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA376770585 rs1217222362	110	S>G		No	ClinGen gnomAD
rs764421264 CA043134	110	S>N		No	ClinGen ExAC
CA376770589 rs1264565618	110	S>R		No	ClinGen gnomAD
CA043169 rs762626209	112	R>C		No	ClinGen ExAC TOPMed gnomAD
rs587780814 CA009221	112	R>H		No	ClinGen TOPMed gnomAD
CA376770602 rs1478519389	113	N>D		No	ClinGen gnomAD
COSM172398 CA009235 rs76397662 VAR_018154	114	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs747483905 CA376770622	114	R>S		No	ClinGen ExAC TOPMed gnomAD
CA376770628 rs1588863889 COSM918107	115	G>S	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1439820916 CA376770632	116	F>I		No	ClinGen gnomAD
CA043440 rs763295929	117	P>H		No	ClinGen ExAC TOPMed gnomAD
CA206713300 rs868523779	117	P>S		No	ClinGen Ensembl
rs1588863912 CA376770652	119	L>R		No	ClinGen Ensembl
rs764496948 CA206713301	119	L>V		No	ClinGen Ensembl
COSM3382855 COSM3382854 CA043459 rs770548816	121	V>I	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs773868504 CA043468	124	K>M		No	ClinGen ExAC gnomAD
CA376770686 rs1588863924	125	V>I		No	ClinGen Ensembl
CA376770700 rs1180613732	127	L>M		No	ClinGen TOPMed
CA376770718 rs1588863938	130	T>A		No	ClinGen Ensembl
rs1304848478 CA376770722	130	T>I		No	ClinGen gnomAD
CA376770727 rs1162472944	131	S>F		No	ClinGen TOPMed gnomAD
CA043552 rs375576038	131	S>P		No	ClinGen ESP ExAC gnomAD
CA376770725 rs1162472944	131	S>Y		No	ClinGen TOPMed gnomAD
rs1554817540 CA376770728	132	L>I		No	ClinGen Ensembl
CA376770736 rs1564490056	133	R>C		No	ClinGen Ensembl
rs138265837 CA043594 COSM3397120 COSM1347796	133	R>H	large_intestine central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA376770737 rs138265837	133	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs79014735 CA009256	136	E>*		No	ClinGen ExAC TOPMed gnomAD
rs79014735 CA043648	136	E>K		No	ClinGen ExAC TOPMed gnomAD
CA206713304 rs770840152	141	G>D		No	ClinGen Ensembl
CA206713303 rs749190212	141	G>S		No	ClinGen gnomAD
CA376770807 rs1564490082	143	A>V		No	ClinGen Ensembl
rs1588863984 CA376770810	144	R>C		No	ClinGen Ensembl
rs551142665 CA043667	144	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376770813 rs1311922451	145	V>I		No	ClinGen Ensembl
rs1564490097 CA376770831	147	F>S		No	ClinGen Ensembl
CA043742 rs150261092	151	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1588864028 CA376770864	152	T>P		No	ClinGen Ensembl
CA376770870 rs1341922880	153	S>T		No	ClinGen gnomAD
CA206713307 rs999019810	155	P>Q		No	ClinGen TOPMed
CA376770886 rs1356388972	155	P>S		No	ClinGen gnomAD
CA376770894 rs1588864039	156	A>V		No	ClinGen Ensembl
CA043792 rs780067540	158	S>N		No	ClinGen ExAC gnomAD
CA043805 rs747536732	160	L>F		No	ClinGen ExAC gnomAD
rs1205703835 CA376543218	162	P>L		No	ClinGen gnomAD
rs1564490122 CA376543214	162	P>S		No	ClinGen Ensembl
CA376543229 rs149403911	163	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA009263 COSM20433 rs149403911 VAR_041762	163	R>Q	large_intestine a colorectal adenocarcinoma sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD
CA376543226 rs371153966	163	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376543242 rs1186737564	165	L>F		No	ClinGen gnomAD
CA043865 rs748609507	168	P>S		No	ClinGen ExAC gnomAD
rs374514956 CA206256156	169	E>K		No	ClinGen ESP TOPMed
CA376543301 rs1478683595	170	T>A		No	ClinGen gnomAD
rs200547906 CA009269	170	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1422505495 CA376543324	171	R>K		No	ClinGen TOPMed gnomAD
rs368431125 CA206256159	173	S>F		No	ClinGen ESP TOPMed
CA348499 rs864622361	173	S>P		No	ClinGen Ensembl
CA16605638 rs1057521088	175	R>C		No	ClinGen TOPMed
CA376543371 rs1057521088	175	R>G		No	ClinGen TOPMed
CA043894 rs774097284	175	R>H		No	ClinGen ExAC gnomAD
rs1588864080 CA376543380	176	I>F		No	ClinGen Ensembl
rs556686338 CA10582719	176	I>M		No	ClinGen Ensembl
rs765654609 CA376543388	177	R>G		No	ClinGen TOPMed gnomAD
rs759229505 CA043905	177	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1560795 rs765654609 CA16612782	177	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1060500757 CA16612784	179	N>S		No	ClinGen Ensembl
rs76449634 CA009273	180	R>*		No	ClinGen Ensembl
CA009280 rs370736139	180	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA376543436 rs1588864107	181	P>L		No	ClinGen Ensembl
CA043927 rs775086466	182	P>S		No	ClinGen ExAC TOPMed gnomAD
rs775086466 CA376543441	182	P>T		No	ClinGen ExAC TOPMed gnomAD
rs144801580 CA009287	183	G>D		No	ClinGen ESP ExAC TOPMed
CA16613001 rs1060500760	183	G>S		No	ClinGen TOPMed
rs753301491 CA376543455	184	T>A		No	ClinGen Ensembl
rs753301491 CA206256165	184	T>P		No	ClinGen Ensembl
rs1048022444 CA206256167	185	F>L		No	ClinGen TOPMed gnomAD
rs1048022444 CA376543463	185	F>V		No	ClinGen TOPMed gnomAD
rs1210452561 CA376543514	189	R>C		No	ClinGen TOPMed
rs1210452561 CA376543515	189	R>G		No	ClinGen TOPMed
CA043969 rs753707182	189	R>H		No	ClinGen ExAC TOPMed gnomAD
CA376543519 rs753707182	189	R>L		No	ClinGen ExAC TOPMed gnomAD
CA376543535 rs1176319006	191	L>M		No	ClinGen gnomAD
rs1008123818 CA206256170	193	V>L		No	ClinGen TOPMed gnomAD
rs368116579 CA376543566	194	Q>H		No	ClinGen ESP ExAC gnomAD
CA044012 rs750675926	198	P>R		No	ClinGen ExAC gnomAD
VAR_044392 rs76736111 CA009290	198	P>T	a patient with renal agenesis; unknown pathological significance; prevents phosphorylation in response to GDNF Renal hypodysplasia/aplasia 1 (rhda1) [UniProt, Ensembl]	No	ClinGen UniProt Ensembl dbSNP
CA376543609 rs1564490208	199	N>D		No	ClinGen Ensembl
rs886046986 CA10635327	199	N>S		No	ClinGen Ensembl
rs898525501 CA206256179	201	S>T		No	ClinGen gnomAD
rs1194183394 CA376543646	202	V>A		No	ClinGen gnomAD
CA376543643 rs751572082	202	V>L		No	ClinGen ExAC TOPMed gnomAD
rs751572082 CA009303	202	V>M		No	ClinGen ExAC TOPMed gnomAD
rs755007607 CA044096	203	A>T		No	ClinGen ExAC gnomAD
rs1476675800 CA376543667	204	Y>*		No	ClinGen gnomAD
CA376543672 rs1564490234	205	R>G		No	ClinGen Ensembl
rs1177806121 CA376543675	205	R>K		No	ClinGen gnomAD
rs1465133188 CA376543699	207	L>P		No	ClinGen gnomAD
CA376543706 rs1170238577	208	E>A		No	ClinGen gnomAD
CA044109 rs781750106	208	E>D		No	ClinGen ExAC gnomAD
CA376543704 rs1588864215	208	E>Q		No	ClinGen Ensembl
rs1407201816 CA376543713	209	G>S		No	ClinGen gnomAD
rs1060500762 CA16612871	210	E>K		No	ClinGen TOPMed gnomAD
CA16613007 rs1060500756	211	G>D		No	ClinGen Ensembl
rs1229955390 CA376544279	212	L>V		No	ClinGen gnomAD
rs1313234246 CA376544303	213	P>H		No	ClinGen gnomAD
rs1313234246 CA376544305	213	P>L		No	ClinGen gnomAD
CA376544304 rs1313234246	213	P>R		No	ClinGen gnomAD
CA044406 rs748128929 COSM1264015	215	R>H	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs748128929 CA044424	215	R>L		No	ClinGen ExAC gnomAD
CA376544330 rs1320902245	215	R>S		No	ClinGen gnomAD
CA16612872 rs1060500754	217	A>D		No	ClinGen Ensembl
CA376544362 rs1259626672	217	A>T		No	ClinGen gnomAD
rs1009392744 CA376544369	218	P>A		No	ClinGen TOPMed gnomAD
CA376544370 rs1197513567	218	P>Q		No	ClinGen gnomAD
CA376544372 rs1197513567	218	P>R		No	ClinGen gnomAD
rs1009392744 CA206256784	218	P>S		No	ClinGen TOPMed gnomAD
CA376544404 rs1484566321	220	S>C		No	ClinGen gnomAD
rs1182941467 CA376544413	220	S>I		No	ClinGen gnomAD
CA376544424 rs1256003022	221	L>P		No	ClinGen gnomAD
rs587780815 CA009308	223	V>M		No	ClinGen ExAC TOPMed gnomAD
rs774670305 CA044485	225	T>M		No	ClinGen ExAC gnomAD
rs766136271 CA044475	225	T>P		No	ClinGen ExAC gnomAD
CA376544492 rs1455266037	226	R>C		No	ClinGen Ensembl
CA206256787 rs937818626	226	R>H		No	ClinGen TOPMed gnomAD
CA376544497 rs937818626	226	R>P		No	ClinGen TOPMed gnomAD
CA044503 rs760813493	228	A>P		No	ClinGen ExAC TOPMed gnomAD
rs760813493 CA009312	228	A>S		No	ClinGen ExAC TOPMed gnomAD
CA044512 rs767654905	229	L>P		No	ClinGen ExAC TOPMed gnomAD
CA376544541 rs1378299924	230	D>N		No	ClinGen gnomAD
rs1318202673 CA376544599	233	Q>L		No	ClinGen gnomAD
rs756216318 CA044551	234	R>L		No	ClinGen ExAC gnomAD
rs756216318 CA376544612	234	R>Q		No	ClinGen ExAC gnomAD
CA376544684 rs1313457558	237	Y>*		No	ClinGen gnomAD
CA376544690 rs1588866040	238	E>*		No	ClinGen Ensembl
CA376544697 rs1588866043	238	E>D		No	ClinGen Ensembl
rs375120544 CA044589	240	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375120544 CA044577	240	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1484963034 CA376544727	241	A>T		No	ClinGen gnomAD
rs1178140696 CA376544731	241	A>V		No	ClinGen TOPMed
CA376544738 rs1264337497	242	V>L		No	ClinGen TOPMed gnomAD
CA376544735 rs1264337497	242	V>M		No	ClinGen TOPMed gnomAD
CA206256806 rs112448213	243	C>S		No	ClinGen Ensembl
rs145970248 CA044641	244	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA044663 rs780756440	246	H>D		No	ClinGen ExAC TOPMed gnomAD
CA044654 rs780756440	246	H>N		No	ClinGen ExAC TOPMed gnomAD
CA376544812 rs769279838	246	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs780756440 CA376544802	246	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs61843232 CA206256817	247	A>D		No	ClinGen ESP TOPMed
rs61843232 CA206256814	247	A>V		No	ClinGen ESP TOPMed
rs749189193 CA044746	248	G>A		No	ClinGen ExAC gnomAD
CA376544840 rs1564491259	249	A>T		No	ClinGen Ensembl
COSM1223551 rs1299878945 CA376544857	250	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA376544899 rs1399108133	252	E>D		No	ClinGen TOPMed gnomAD
CA206256829 rs950977184	252	E>K		No	ClinGen TOPMed gnomAD
rs1554817812 CA376544906	253	V>E		No	ClinGen Ensembl
rs587780816 CA009343	253	V>M		No	ClinGen Ensembl
CA206256832 rs554862459	254	V>M		No	ClinGen gnomAD
COSM684321 CA376544935 COSM1646334 rs1564491302	255	M>I	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA044822 rs770741709	255	M>L		No	ClinGen ExAC gnomAD
rs1277252937 CA376544972	257	P>R		No	ClinGen gnomAD
rs773964804 CA044843	257	P>T		No	ClinGen ExAC gnomAD
CA044880 rs759812068	259	P>L		No	ClinGen ExAC TOPMed gnomAD
CA044858 rs759812068	259	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA376545003 rs1216449106	259	P>S		No	ClinGen gnomAD
rs1287295258 CA376545057	261	T>A		No	ClinGen gnomAD
rs139790943 CA009350	262	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775772444 CA044901	262	V>M		No	ClinGen ExAC gnomAD
rs1393343313 CA376545087	264	D>A		No	ClinGen gnomAD
rs1564491360 CA376545094	264	D>E		No	ClinGen Ensembl
rs1554817823 CA376545111	266	D>N		No	ClinGen Ensembl
rs764239646 CA376545146	268	S>L		No	ClinGen ExAC TOPMed gnomAD
rs764239646 CA044942	268	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1564491376 CA376545150	269	A>P		No	ClinGen Ensembl
CA376545175 rs1361019662	271	T>I		No	ClinGen TOPMed gnomAD
CA376545196 rs1588866219	273	P>A		No	ClinGen Ensembl
CA044981 rs762363830	274	A>E		No	ClinGen ExAC gnomAD
CA044992 rs143209223	275	G>V		No	ClinGen ESP ExAC gnomAD
CA045019 rs139213499	276	V>F		No	ClinGen ESP ExAC gnomAD
rs139213499 CA206256850	276	V>I		No	ClinGen ESP ExAC gnomAD
CA206256855 rs1027662469	277	D>N		No	ClinGen TOPMed gnomAD
CA009353 VAR_041763 rs35118262 COSM95173	278	T>N	found in two patients with Hirschsprung disease breast [UniProt, Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA376545261 rs541929171	278	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs986293008 CA206256865	279	A>G		No	ClinGen Ensembl
CA045090 rs777221273	279	A>T		No	ClinGen ExAC TOPMed gnomAD
CA045108 rs749244375	280	S>R		No	ClinGen ExAC gnomAD
rs745642574 CA206256867	281	A>G		No	ClinGen Ensembl
rs1588866293 CA376545315	282	V>M		No	ClinGen Ensembl
rs1588866311 CA376545350	284	E>K		No	ClinGen Ensembl
CA376545377 rs1554817836	285	F>L		No	ClinGen Ensembl
rs778909045 CA376545392	285	F>L		No	ClinGen ExAC gnomAD
rs778909045 CA045130	285	F>L		No	ClinGen ExAC gnomAD
CA045140 rs745710576	286	K>T		No	ClinGen ExAC TOPMed gnomAD
CA376545427 rs1564491460	287	R>L		No	ClinGen Ensembl
VAR_041764 rs34682185 CA009374	292	V>M	found in patients with Hirschsprung disease; unknown pathological significance Renal hypodysplasia/aplasia 1 (rhda1) [UniProt, Ensembl]	No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA045355 rs745790708	293	V>A		No	ClinGen ExAC gnomAD
CA045369 rs758159521	295	T>M		No	ClinGen ExAC TOPMed gnomAD
CA376545681 rs758159521	295	T>R		No	ClinGen ExAC TOPMed gnomAD
CA376545706 rs1480040525	297	R>H		No	ClinGen TOPMed
CA376545692 rs1174031292	297	R>S		No	ClinGen TOPMed
CA376545785 rs1187008873	301	A>T		No	ClinGen gnomAD
CA376545827 rs1588867164	303	V>M		No	ClinGen Ensembl
rs1554817979 CA376545901	307	S>L		No	ClinGen Ensembl
CA16613068 rs1060500763	308	G>R		No	ClinGen Ensembl
CA045485 rs769894584	309	E>Q		No	ClinGen ExAC gnomAD
rs773631693 CA045506	310	L>M		No	ClinGen ExAC gnomAD
CA376545965 rs1311500725	311	V>L		No	ClinGen gnomAD
rs1311500725 CA376545961	311	V>M		No	ClinGen gnomAD
CA206257455 rs77702891	313	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1057521089 CA16606015	313	R>W		No	ClinGen TOPMed
rs774637214 CA045562	315	T>P		No	ClinGen ExAC gnomAD
rs1060499894 CA376546044	316	S>N		No	ClinGen TOPMed
rs1060499894 CA376546046	316	S>T		No	ClinGen TOPMed
rs760322514 CA045576	317	T>M		No	ClinGen ExAC gnomAD
rs760322514 CA206257460	317	T>R		No	ClinGen ExAC gnomAD
CA376546075 rs1235573033	318	L>V		No	ClinGen gnomAD
CA009403 rs377767388	321	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs377767388 CA376546113	321	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1060500755 CA16613013	322	D>N		No	ClinGen Ensembl
CA376546160 rs1278030644	324	W>*		No	ClinGen gnomAD
CA009409 rs758298916	324	W>C		No	ClinGen ExAC TOPMed gnomAD
rs779719517 CA045679	325	A>T		No	ClinGen ExAC TOPMed gnomAD
rs746865459 CA045692	325	A>V		No	ClinGen ExAC gnomAD
rs863224778 CA338671	326	Q>R		No	ClinGen TOPMed gnomAD
CA10578859 rs876658331	327	Q>H		No	ClinGen gnomAD
CA045729 rs781613821	328	T>A		No	ClinGen ExAC gnomAD
COSM1560794 CA206257489 rs948303275	328	T>S	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
COSM39605 CA376546267 rs1172318035	330	R>W	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1420717222 CA376546286	331	V>M		No	ClinGen gnomAD
CA376546315 rs1554818012	333	H>D		No	ClinGen Ensembl
CA045755 rs769791074	333	H>P		No	ClinGen ExAC gnomAD
CA376546323 rs1564492193	333	H>Q		No	ClinGen Ensembl
CA376546317 rs1554818012	333	H>Y		No	ClinGen Ensembl
CA376546332 rs1469135992	334	W>C		No	ClinGen TOPMed
CA030592 rs144981275	336	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1297244 CA376546357 rs1161270866	337	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
rs377767433 CA007399	338	T>I		No	ClinGen ExAC TOPMed gnomAD
rs377767433 CA206257504	338	T>N		No	ClinGen ExAC TOPMed gnomAD
rs367737920 CA030679	340	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA376546393 rs1588867362	341	Q>E		No	ClinGen Ensembl
rs776300640 CA030720	343	N>S		No	ClinGen ExAC gnomAD
rs776300640 CA030694	343	N>T		No	ClinGen ExAC gnomAD
CA030797 rs762367597	344	G>D		No	ClinGen ExAC gnomAD
CA376546435 rs749883001	344	G>R		No	ClinGen ExAC gnomAD
rs749883001 CA030779 COSM125821	344	G>S	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA030812 rs766480138	345	S>G		No	ClinGen ExAC gnomAD
rs200641186 CA206257548	347	V>A		No	ClinGen 1000Genomes
rs1467660660 CA376546466	347	V>L		No	ClinGen gnomAD
CA376546465 rs1467660660	347	V>M		No	ClinGen gnomAD
rs751518221 CA030832	348	R>Q		No	ClinGen ExAC gnomAD
CA376546474 rs1183365192	348	R>W		No	ClinGen TOPMed
CA030864 rs754859905	349	A>G		No	ClinGen ExAC TOPMed gnomAD
CA206257553 rs868098083	349	A>T		No	ClinGen Ensembl
CA030876 rs754859905	349	A>V		No	ClinGen ExAC TOPMed gnomAD
CA007409 rs587778660	350	T>I		No	ClinGen Ensembl
CA030932 rs749449032	351	V>E		No	ClinGen ExAC TOPMed gnomAD
CA007417 rs777716061	351	V>I		No	ClinGen ExAC gnomAD
CA376546507 rs1131691450	352	H>R		No	ClinGen Ensembl
CA031100 rs145402131	355	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs145402131 CA031126	355	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs876660102 CA376547170	356	L>M		No	ClinGen gnomAD
CA007425 rs1554818322	358	L>P		No	ClinGen Ensembl
rs1204350955 CA376547229	359	N>S		No	ClinGen Ensembl
rs770587835 CA031414	361	N>K		No	ClinGen ExAC TOPMed gnomAD
rs773935854 CA031444	362	L>I		No	ClinGen ExAC gnomAD
CA206258792 rs766881522	363	S>C		No	ClinGen Ensembl
CA376547268 rs766881522	363	S>F		No	ClinGen Ensembl
CA376547274 rs1308447836	364	I>V		No	ClinGen gnomAD
rs763670106 CA031493	365	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1362164894 CA376547308	366	E>D		No	ClinGen gnomAD
rs760560422 CA031524	366	E>G		No	ClinGen ExAC gnomAD
CA031561 rs763759702	367	N>S		No	ClinGen ExAC gnomAD
rs754116867 CA031579	368	R>C		No	ClinGen ExAC TOPMed gnomAD
CA031602 rs199529397	368	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA376547332 rs1212213363	369	T>A		No	ClinGen gnomAD
CA031624 rs765305476	370	M>I		No	ClinGen ExAC gnomAD
rs886046987 CA10628535	370	M>K		No	ClinGen gnomAD
CA376547342 rs1280159133	370	M>V		No	ClinGen gnomAD
rs1242961674 CA376547350	371	Q>K		No	ClinGen gnomAD
COSM3686740 CA007442 rs546866208 COSM267328	373	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs142338976 CA031689	375	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1588869351 CA376547412	377	N>S		No	ClinGen Ensembl
rs755400887 CA031722	380	D>A		No	ClinGen ExAC gnomAD
rs1394361948 CA376547437	380	D>N		No	ClinGen gnomAD
rs139813765 CA031771	381	F>C		No	ClinGen 1000Genomes ExAC
rs781362020 CA031741	381	F>L		No	ClinGen ExAC gnomAD
CA031827 rs774139424	383	G>D		No	ClinGen ExAC gnomAD
rs536298339 CA031869	384	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771679592 CA376547506	384	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs771679592 CA031895	384	P>R		No	ClinGen ExAC TOPMed gnomAD
rs536298339 CA206258858	384	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA206258864 rs906695652	385	G>E		No	ClinGen TOPMed gnomAD
CA376547533 rs906695652	385	G>V		No	ClinGen TOPMed gnomAD
rs115272158 CA007451	386	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376547576 rs1438440113	387	G>S		No	ClinGen gnomAD
rs751939820 CA031993	388	V>A		No	ClinGen ExAC TOPMed gnomAD
rs776223166 CA031971	388	V>I		No	ClinGen ExAC TOPMed gnomAD
rs895556824 CA16613014	389	L>F		No	ClinGen TOPMed gnomAD
rs1564493381 CA376547658	393	F>V		No	ClinGen Ensembl
CA376547702 rs1452469572	395	V>L		No	ClinGen TOPMed gnomAD
CA376547698 rs1452469572	395	V>M		No	ClinGen TOPMed gnomAD
CA16042116 rs781646869	396	S>L		No	ClinGen TOPMed gnomAD
rs1588869500 CA376547748	399	P>S		No	ClinGen Ensembl
CA032120 rs140638866	401	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA376547772 rs140638866	401	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA376547774 rs1564493414	401	S>N		No	ClinGen Ensembl
CA376547809 rs1449633271	403	H>Y		No	ClinGen gnomAD
rs756532455 CA032165	406	S>G		No	ClinGen ExAC TOPMed gnomAD
CA376547871 rs1564493427	406	S>R		No	ClinGen Ensembl
rs965224147 CA206258925	407	T>A		No	ClinGen TOPMed
CA348782 rs864622405	408	Y>F		No	ClinGen Ensembl
CA376547899 rs778754580	408	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs778754580 CA032180	408	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA032218 rs771636042	409	S>C		No	ClinGen ExAC gnomAD
CA376547930 rs1588869546	410	L>F		No	ClinGen Ensembl
rs1183925225 CA376548005	414	R>G		No	ClinGen gnomAD
rs1233324255 CA376548050	416	A>V		No	ClinGen gnomAD
rs1478152005 CA376548057	417	R>C		No	ClinGen TOPMed
CA376548055 rs1478152005	417	R>G		No	ClinGen TOPMed
CA032287 rs201030628	417	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376548059 rs201030628	417	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA349205 rs371731991	418	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs371731991 CA032301 COSM1347804	418	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1588869586 CA376548089	419	F>Y		No	ClinGen Ensembl
rs769548635 CA376548104	420	A>S		No	ClinGen ExAC TOPMed gnomAD
rs769548635 CA032320	420	A>T		No	ClinGen ExAC TOPMed gnomAD
CA206261298 rs749107291	422	I>V		No	ClinGen Ensembl
CA032746 rs767601598	423	G>W		No	ClinGen ExAC TOPMed gnomAD
CA032784 rs761207209	424	K>N		No	ClinGen ExAC gnomAD
rs1176090269 CA376548835	424	K>R		No	ClinGen gnomAD
rs764558748 CA376548841	425	V>F		No	ClinGen ExAC gnomAD
rs764558748 CA376548840	425	V>I		No	ClinGen ExAC gnomAD
rs764558748 CA032807	425	V>L		No	ClinGen ExAC gnomAD
rs1387494484 CA376548854	426	C>Y		No	ClinGen gnomAD
rs1356436038 COSM4135656 CA376548864 COSM4135657	427	V>L	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1327111345 CA376548871	428	E>K		No	ClinGen TOPMed
CA032862 rs779625196	429	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1324777252 CA376548893	429	N>K		No	ClinGen TOPMed gnomAD
CA032878 rs202053997	430	C>W		No	ClinGen 1000Genomes ExAC gnomAD
CA032907 rs754481151	431	Q>R		No	ClinGen ExAC gnomAD
VAR_018155 CA032939 rs552057730	432	A>E	found in a patient with congenital central hypoventilation syndrome; unknown pathological significance [UniProt]	No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs780630024 CA032916	432	A>S		No	ClinGen ExAC gnomAD
CA915945896 rs1588871051	432	A>T		No	ClinGen Ensembl
rs780630024 CA206261323	432	A>T		No	ClinGen ExAC gnomAD
CA032968 rs552057730 COSM1347805	432	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1554818526 CA376548939	433	F>L		No	ClinGen Ensembl
rs794727875 CA007524	434	S>G		No	ClinGen Ensembl
rs770736612 CA033031	436	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1260532632 CA376548978	437	N>S		No	ClinGen gnomAD
rs774474422 CA033053	438	V>I		No	ClinGen ExAC TOPMed gnomAD
CA033105 rs772292843	443	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1172240345 CA376549068	446	G>A		No	ClinGen gnomAD
CA007531 rs115423919	446	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376549061 rs115423919	446	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376549080 rs1588871155	447	A>D		No	ClinGen Ensembl
rs549907428 CA007539	448	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760832715 CA376549104	448	N>S		No	ClinGen ExAC TOPMed gnomAD
rs760832715 CA033136	448	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1158236145 CA376549112	449	C>R		No	ClinGen gnomAD
CA007541 rs774092678 COSM918112 COSM1584958	451	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA033242 rs151148041	452	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754598663 CA033267	453	G>R		No	ClinGen ExAC gnomAD
rs752267460 CA033305	455	V>A		No	ClinGen ExAC gnomAD
CA033292 rs145966037	455	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1286634866 CA376549245	456	T>I		No	ClinGen TOPMed
rs1588871212 CA376549263	458	A>S		No	ClinGen Ensembl
rs1564494424 CA376549286	459	E>D		No	ClinGen Ensembl
CA033343 rs539995816	459	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA033391 rs539995816	459	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA033413 rs757031867	459	E>V		No	ClinGen ExAC gnomAD
rs1085307787 CA376549291	460	D>Y		No	ClinGen Ensembl
rs1313331250 CA376549337 COSM684320 COSM1646333	462	S>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs200334340 CA033445	467	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1554818536 CA376549425	468	N>D		No	ClinGen Ensembl
CA376549434 rs1467587616	468	N>S		No	ClinGen gnomAD
rs1588871253 CA376549445	469	D>G		No	ClinGen Ensembl
rs772489699 CA007562	469	D>H		No	ClinGen ExAC gnomAD
CA033472 rs772489699	469	D>N		No	ClinGen ExAC gnomAD
rs772489699 CA376549443	469	D>Y		No	ClinGen ExAC gnomAD
CA206261381 rs925104163	470	T>I		No	ClinGen TOPMed
CA376549504 rs1253227059	472	A>T		No	ClinGen gnomAD
CA033507 rs747139265	474	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs775842917 CA033490	474	R>W		No	ClinGen ExAC TOPMed gnomAD
rs746512075 CA033523	475	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1588871312 CA376549552	476	P>A		No	ClinGen Ensembl
rs762335805 CA033580	476	P>L		No	ClinGen ExAC gnomAD
rs762335805 CA376549554	476	P>R		No	ClinGen ExAC gnomAD
rs1459885382 CA376549586	478	C>Y		No	ClinGen gnomAD
rs763296134 CA033633	480	E>D		No	ClinGen ExAC gnomAD
CA376549623 rs763296134	480	E>D		No	ClinGen ExAC gnomAD
rs767210575 CA033651	481	L>V		No	ClinGen ExAC TOPMed gnomAD
CA10578863 rs876659821	482	H>R		No	ClinGen Ensembl
CA033671 rs752322996	483	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA033695 rs755660496	484	M>L		No	ClinGen ExAC TOPMed gnomAD
COSM1505478 CA033724 rs763617146	484	M>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs755660496 CA376549682	484	M>V		No	ClinGen ExAC TOPMed gnomAD
CA376549719 rs1588871361	486	V>L		No	ClinGen Ensembl
rs1218693745 CA376549754	488	T>I		No	ClinGen TOPMed gnomAD
rs753733901 CA033750	488	T>S		No	ClinGen ExAC TOPMed gnomAD
CA007597 rs372648203	489	D>E		No	ClinGen ESP ExAC gnomAD
rs923351888 CA206261402	489	D>G		No	ClinGen Ensembl
CA007589 VAR_018156 rs9282834	489	D>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs923351888 CA376549765	489	D>V		No	ClinGen Ensembl
CA376549774 rs1588871393	490	Q>K		No	ClinGen Ensembl
CA033797 rs750291418	490	Q>R		No	ClinGen ExAC gnomAD
CA376549803 rs1397494237	491	Q>*		No	ClinGen TOPMed
CA376549800 rs1397494237	491	Q>E		No	ClinGen TOPMed
CA376549811 rs1376727811	491	Q>H		No	ClinGen TOPMed
CA033829 rs780467203	493	S>P		No	ClinGen ExAC gnomAD
rs1474283003 CA376549889	495	Q>R		No	ClinGen gnomAD
rs1172578380 CA376549903	496	A>S		No	ClinGen gnomAD
CA376549907 rs1356271817	496	A>V		No	ClinGen gnomAD
CA033877 rs375677628	498	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA033898 rs781272120	499	Q>R		No	ClinGen ExAC gnomAD
CA376549987 rs199572076	501	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs199572076 CA033912	501	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs770395347 CA033939	502	V>I		No	ClinGen ExAC gnomAD
CA376549995 rs770395347	502	V>L		No	ClinGen ExAC gnomAD
CA376550007 rs1226167606	503	T>I		No	ClinGen gnomAD
rs1226167606 CA376550006	503	T>R		No	ClinGen gnomAD
rs773576143 CA033961	504	V>M		No	ClinGen ExAC gnomAD
rs763356763 CA033978	506	G>R		No	ClinGen ExAC gnomAD
rs1273035640 CA376550040	506	G>V		No	ClinGen gnomAD
CA376550043 rs1588871498	507	S>A		No	ClinGen Ensembl
CA034161 rs775152474	508	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA206261734 rs989627119	510	A>T		No	ClinGen TOPMed gnomAD
CA007606 rs201745826	510	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376550220 rs1588872048	511	E>D		No	ClinGen Ensembl
rs1588872043 CA376550217	511	E>G		No	ClinGen Ensembl
rs201553718 CA007615 COSM188542	511	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs149238501 CA034343	513	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3375464 rs149238501 CA10582720 COSM3375465	513	A>V	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA376550264 rs1206969193	514	G>D		No	ClinGen gnomAD
CA376550276 rs1468917724	515	C>F		No	ClinGen gnomAD
CA007626 rs377767389	515	C>S		No	ClinGen Ensembl
rs1275123049 CA376550265	515	C>S		No	ClinGen gnomAD
rs1554818626 CA376550282	515	C>W		No	ClinGen Ensembl
CA376550271 rs1468917724	515	C>Y		No	ClinGen gnomAD
CA376550298 rs1194200337	516	P>L		No	ClinGen gnomAD
CA376550295 rs1194200337	516	P>R		No	ClinGen gnomAD
CA376550284 rs1588872077	516	P>T		No	ClinGen Ensembl
rs764616982 CA034375	517	L>V		No	ClinGen ExAC TOPMed gnomAD
CA034405 rs762930066	520	A>T		No	ClinGen ExAC gnomAD
CA376550423 rs751464792	523	K>N		No	ClinGen ExAC TOPMed gnomAD
rs766278774 CA034418	523	K>Q		No	ClinGen ExAC gnomAD
rs1588872122 CA376550415	523	K>R		No	ClinGen Ensembl
CA034454 rs545625150	525	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA034474 rs752830820 COSM249546	525	R>Q	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA007640 rs545625150	525	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA034507 rs756248937	526	L>P		No	ClinGen ExAC gnomAD
rs1588872141 CA376550477	527	E>A		No	ClinGen Ensembl
CA376550523 rs1444878020	529	E>K		No	ClinGen gnomAD
rs777778956 CA034544	530	E>G		No	ClinGen ExAC
CA376550551 rs1372959588	530	E>Q		No	ClinGen gnomAD
CA007653 rs377767390	531	C>R		No	ClinGen Ensembl
CA376550587 rs1226799042	532	G>D		No	ClinGen gnomAD
rs75873440 CA007675	533	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1213103610 CA376550609	533	G>D		No	ClinGen gnomAD
CA007667 rs75873440	533	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1206429429 CA376550641	534	L>P		No	ClinGen gnomAD
rs1233236118 CA376550658	535	G>D		No	ClinGen gnomAD
CA376550681 rs1438717389	537	P>A		No	ClinGen TOPMed
CA376550689 rs1490617677	537	P>L		No	ClinGen gnomAD
CA376550678 rs1438717389	537	P>S		No	ClinGen TOPMed
rs746279995 CA034636	538	T>A		No	ClinGen ExAC TOPMed gnomAD
CA376550703 rs148406803	538	T>K		No	ClinGen ESP TOPMed gnomAD
rs148406803 CA206261796	538	T>R		No	ClinGen ESP TOPMed gnomAD
COSM1187931 rs543376293 CA034653	540	R>G	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1588872239 CA376550746	540	R>K		No	ClinGen Ensembl
CA034685 rs776381183	540	R>S		No	ClinGen ExAC gnomAD
rs1554818653 CA376550765	541	C>R		No	ClinGen Ensembl
rs890269439 CA206261803	545	Q>K		No	ClinGen TOPMed
CA376550838 rs1170379354	545	Q>R		No	ClinGen TOPMed
CA007695 rs374461212	548	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs772784061 CA034723	549	K>N		No	ClinGen ExAC gnomAD
CA034935 rs747844360	550	G>E		No	ClinGen ExAC gnomAD
CA376551783 rs1253582681	554	N>K		No	ClinGen gnomAD
rs200047805 CA034964	554	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1448253631 CA376551785	555	F>I		No	ClinGen gnomAD
CA376551815 rs1588872713	557	T>P		No	ClinGen Ensembl
rs1248003542 CA376551842	559	S>F		No	ClinGen gnomAD
CA035017 rs748852160	560	P>S		No	ClinGen ExAC TOPMed gnomAD
CA035049 rs201972250	561	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376551854 rs201972250	561	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA035031 rs201972250	561	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1161678851 CA376551858	561	S>T		No	ClinGen TOPMed
CA376551865 rs759342879	562	T>P		No	ClinGen ExAC gnomAD
CA035065 rs759342879	562	T>S		No	ClinGen ExAC gnomAD
CA376551879 rs1387381256	563	K>E		No	ClinGen gnomAD
CA337656 rs863224777	563	K>T		No	ClinGen Ensembl
rs1588872756 COSM1666599 CA376551891	564	T>P	NS [Cosmic]	No	ClinGen cosmic curated Ensembl
CA376551889 rs1588872756	564	T>S		No	ClinGen Ensembl
rs1319956362 CA376551917	566	P>L		No	ClinGen gnomAD
rs147219360 CA007711	567	D>N	Renal hypodysplasia/aplasia 1 (rhda1) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
CA007718 rs140464432	568	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA376551942 rs1258200571	569	H>N		No	ClinGen TOPMed
CA035149 rs765256156	569	H>R		No	ClinGen ExAC gnomAD
rs144015580 CA206262042	570	C>*		No	ClinGen gnomAD
rs750958377 CA035189 COSM1347809	571	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1205261248 CA376551984	572	V>D		No	ClinGen gnomAD
rs758766818 CA035206 COSM918113	573	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA007725 rs587780808	575	T>I		No	ClinGen TOPMed gnomAD
CA376552056 rs1588872829	576	Q>K		No	ClinGen Ensembl
CA376552063 rs1284377464	576	Q>R		No	ClinGen gnomAD
rs1554818709 CA376552094	577	D>E		No	ClinGen Ensembl
CA376552110 rs1564495318	578	I>M		No	ClinGen Ensembl
CA376552104 rs1196065300	578	I>N		No	ClinGen gnomAD
rs144455821 CA035240	579	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1588872865 CA376552233	585	C>R		No	ClinGen Ensembl
rs777604634 CA035296	586	L>F		No	ClinGen ExAC TOPMed gnomAD
CA035415 rs748905470	587	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1398378776 CA376552396	588	G>D		No	ClinGen gnomAD
CA376552411 rs786202597	589	S>C		No	ClinGen Ensembl
CA007753 rs786202597	589	S>R		No	ClinGen Ensembl
CA376552439 rs1307072968	590	I>F		No	ClinGen TOPMed gnomAD
rs1348219647 CA376552446	590	I>T		No	ClinGen gnomAD
CA376552437 rs1307072968	590	I>V		No	ClinGen TOPMed gnomAD
rs776013456 CA206262326 COSM20890	591	V>I	thyroid [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs878855059 CA10582721	593	G>R		No	ClinGen TOPMed gnomAD
rs778622905 CA035653	594	H>Y		No	ClinGen ExAC gnomAD
rs1483605155 CA376552530	595	E>*		No	ClinGen TOPMed gnomAD
CA376552555 rs1204846773	595	E>D		No	ClinGen gnomAD
CA376552533 COSM3686742 COSM3686741 rs1483605155	595	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1249950304 CA376552585	597	G>E		No	ClinGen gnomAD
rs1468422135 CA376552628	599	P>H		No	ClinGen TOPMed gnomAD
CA376552620 rs1486769344	599	P>T		No	ClinGen gnomAD
VAR_008966 COSM241394 rs377767393 CA007761	600	R>Q	prostate [Cosmic]	No	ClinGen cosmic curated UniProt ExAC dbSNP gnomAD
CA035694 COSM3786677 COSM3786678 rs745418960	600	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1422068537 CA376552651 COSM4135659 COSM4135658	601	G>E	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA007772 rs377767394	603	K>Q		No	ClinGen Ensembl
CA035737 rs746901176	604	A>T		No	ClinGen ExAC gnomAD
rs1286776938 CA376552721	604	A>V		No	ClinGen TOPMed
rs1031388542 CA206262360	605	G>V		No	ClinGen Ensembl
CA007781 rs377767395	606	Y>C		No	ClinGen Ensembl
rs199921511 CA035744	606	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs77939446 CA007843	609	C>F		No	ClinGen TOPMed gnomAD
CA007792 rs77558292	609	C>S		No	ClinGen Ensembl
CA007834 rs77939446	609	C>S		No	ClinGen TOPMed gnomAD
rs377767397 CA007949	611	C>F		No	ClinGen Ensembl
CA007942 rs377767397	611	C>S		No	ClinGen Ensembl
CA035770 rs761596036	613	P>L		No	ClinGen ExAC gnomAD
rs769971379 CA035793	614	E>K		No	ClinGen ExAC TOPMed gnomAD
CA376552804 rs1060504031	616	E>D		No	ClinGen gnomAD
CA376552800 rs1393753095	616	E>K		No	ClinGen gnomAD
rs1393753095 CA376552798	616	E>Q		No	ClinGen gnomAD
rs76262710 CA007974	618	C>S		No	ClinGen ExAC gnomAD
rs377767400 CA008030	618	C>W		No	ClinGen TOPMed
CA658761133 rs1554818786	620	C>L		No	ClinGen Ensembl
rs1554818784 CA658761132	620	C>R		No	ClinGen Ensembl
rs77316810 CA008047 COSM29805	620	C>S	thyroid [Cosmic]	No	ClinGen cosmic curated Ensembl
rs766438951 CA376552830	621	E>D		No	ClinGen ExAC TOPMed gnomAD
CA376552824 rs1228204486	621	E>K		No	ClinGen gnomAD
COSM918114 COSM1584957 CA008114 rs377767402	623	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA376552849 rs1224456563	624	D>G		No	ClinGen TOPMed
rs754466051 CA376552888	628	P>A		No	ClinGen ExAC gnomAD
rs905507912 CA206262797	628	P>L		No	ClinGen TOPMed
CA036290 rs754466051	628	P>S		No	ClinGen ExAC gnomAD
COSM964 CA008145 rs377767404	630	C>R	thyroid [Cosmic]	No	ClinGen cosmic curated Ensembl
CA008212 rs121913308	631	D>A		No	ClinGen ExAC
rs55846256 CA008238	631	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM978 rs121913308 CA008219 VAR_006321	631	D>G	thyroid thyroid carcinoma; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt ExAC dbSNP
CA008190 COSM1237916 rs377767406	631	D>N	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs121913308 CA008228	631	D>V		No	ClinGen ExAC
rs377767406 CA008198 COSM1738370	631	D>Y	adrenal_gland [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1335705237 CA376552904	632	E>A		No	ClinGen TOPMed
CA008286 rs387906531	632	E>D		No	ClinGen gnomAD
CA008264 rs267607009	632	E>DV		No	ClinGen Ensembl
rs1335705237 CA376552905	632	E>G		No	ClinGen TOPMed
COSM1702269 CA008256 rs377767407 COSM1702268	632	E>K	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA376552908 rs267607010	633	L>M		No	ClinGen TOPMed gnomAD
rs267607010 CA008295	633	L>V		No	ClinGen TOPMed gnomAD
CA915945886 rs1588874068	634	C>L		No	ClinGen Ensembl
CA008334 rs377767409	634	C>L		No	ClinGen Ensembl
CA008361 COSM1237918 rs75996173	634	C>S	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs377767410 CA036464	635	R>C		No	ClinGen ExAC gnomAD
CA008395 rs377767410	635	R>G		No	ClinGen ExAC gnomAD
CA036487 rs776164321	635	R>H		No	ClinGen ExAC TOPMed gnomAD
rs776164321 CA376552915	635	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM72408 CA16612797 rs1035958105	636	T>M	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
CA206262870 rs1001363739	636	T>S		No	ClinGen Ensembl
CA376552928 rs1386426855	638	I>F		No	ClinGen TOPMed
CA036574 rs777122776	639	A>S		No	ClinGen ExAC TOPMed gnomAD
rs777122776 CA036557	639	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1224994492 CA376552937	640	A>T		No	ClinGen TOPMed gnomAD
CA008442 rs377767411	641	A>S		No	ClinGen ExAC TOPMed gnomAD
CA036607 rs377767411	641	A>T		No	ClinGen ExAC TOPMed gnomAD
CA376552946 rs759073728	642	V>I		No	ClinGen ExAC gnomAD
CA036624 rs759073728	642	V>L		No	ClinGen ExAC gnomAD
rs1554818910 CA376552962	644	F>C		No	ClinGen Ensembl
CA376552959 rs1554818909	644	F>V		No	ClinGen Ensembl
rs864622505 CA348579	648	V>A		No	ClinGen Ensembl
COSM1223553 CA008459 rs77711105	648	V>I	thyroid large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA008470 rs148935214	649	S>L	Renal hypodysplasia/aplasia 1 (rhda1) [Ensembl]	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA036691 rs753724503	653	S>C		No	ClinGen ExAC TOPMed gnomAD
CA376553019 rs1266281603	654	A>V		No	ClinGen Ensembl
CA036702 rs756978792	655	F>L		No	ClinGen ExAC gnomAD
rs779310191 CA036721	658	H>Q		No	ClinGen ExAC
CA376553048 rs1274484329	658	H>R		No	ClinGen gnomAD
CA376553078 rs1588874193	662	K>T		No	ClinGen Ensembl
CA376553093 rs1357060080	664	A>S		No	ClinGen gnomAD
rs377767413 CA008498	665	H>Q		No	ClinGen Ensembl
CA376553098 rs1228832134	665	H>Y		No	ClinGen gnomAD
rs143795581 CA008502	666	K>E		No	ClinGen ESP ExAC gnomAD
rs377767439 CA008511	666	K>M		No	ClinGen ExAC gnomAD
rs146646971 CA036775	666	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs146646971 CA008525	666	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs143795581 CA036741	666	K>Q		No	ClinGen ESP ExAC gnomAD
rs377767439 CA376553104	666	K>R		No	ClinGen ExAC gnomAD
CA036760 rs377767439	666	K>T		No	ClinGen ExAC gnomAD
CA376553107 rs1564496394	667	P>S		No	ClinGen Ensembl
rs1482522995 CA376553116	668	P>L		No	ClinGen gnomAD
rs776986585 CA036880	669	I>F		No	ClinGen ExAC TOPMed gnomAD
CA036871 rs776986585	669	I>V		No	ClinGen ExAC TOPMed gnomAD
rs867154244 CA206262946	671	S>L		No	ClinGen Ensembl
rs770100231 CA036915	673	E>A		No	ClinGen ExAC gnomAD
CA206262949 rs3026759	673	E>K		No	ClinGen Ensembl
rs1163222438 CA376553150	674	M>T		No	ClinGen gnomAD
rs1412224986 CA376553167	676	F>L		No	ClinGen gnomAD
rs536038262 CA036983	677	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA376553169 rs1432069386	677	R>W		No	ClinGen gnomAD
CA16612879 rs184498773 COSM918118	680	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed gnomAD
COSM249792 CA376553191 rs567241943 COSM1603446	681	Q>*	thyroid liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA037016 rs567241943	681	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376553199 rs1447335566	682	A>T		No	ClinGen gnomAD
rs1283566936 CA376553202	682	A>V		No	ClinGen gnomAD
rs760088950 CA037092	684	P>L		No	ClinGen ExAC TOPMed gnomAD
CA037073 rs141347316	684	P>S		No	ClinGen ESP ExAC gnomAD
rs1422796781 CA376553219	685	V>A		No	ClinGen TOPMed
rs753686782 CA037115	685	V>I		No	ClinGen ExAC gnomAD
rs1280250127 CA376553223	686	S>N		No	ClinGen gnomAD
rs778793244 CA037144	687	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs778793244 CA376553231	687	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA376553239 rs1588874330	688	S>F		No	ClinGen Ensembl
CA037169 rs750681372	688	S>P		No	ClinGen ExAC gnomAD
CA206262978 rs989429215	689	S>F		No	ClinGen TOPMed gnomAD
rs1799939 CA376553252	691	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1799939 CA376553251	691	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1799939 COSM1666596 VAR_006332 CA008562	691	G>S	adrenal_gland large_intestine [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA376553260 rs1403143093	692	A>V		No	ClinGen gnomAD
CA376553265 rs1332256523	693	R>H		No	ClinGen TOPMed gnomAD
rs193922700 CA008572	694	R>W		No	ClinGen TOPMed gnomAD
rs1564496520 CA376553282	696	S>L		No	ClinGen Ensembl
CA376553287 rs1293039001	697	L>P		No	ClinGen TOPMed
CA376553285 rs1293039001	697	L>Q		No	ClinGen TOPMed
rs1276303673 CA376553288	698	D>N		No	ClinGen gnomAD
CA376553307 rs1564496551	700	M>I		No	ClinGen Ensembl
CA008585 rs377767441	700	M>L		No	ClinGen Ensembl
CA376553310 rs1199456015	701	E>K		No	ClinGen gnomAD
rs770155054 CA037346	704	V>D		No	ClinGen ExAC gnomAD
rs927029236 CA16042118	704	V>F		No	ClinGen TOPMed gnomAD
CA037364 rs137855422 COSM188543	706	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1554818959 CA376553355	707	D>E		No	ClinGen Ensembl
rs771768140 CA037392	709	F>L		No	ClinGen ExAC gnomAD
CA16613023 rs3026760	710	K>E		No	ClinGen gnomAD
rs774983492 CA037409	710	K>R		No	ClinGen ExAC gnomAD
rs760272063 CA037424	712	L>P		No	ClinGen ExAC gnomAD
CA376554243 rs1588875462	720	P>L		No	ClinGen Ensembl
CA16612882 rs1060500753	720	P>S		No	ClinGen TOPMed
rs1356141763 CA376554252	721	R>Q		No	ClinGen gnomAD
COSM1584954 CA376554248 COSM918119 rs1554819146	721	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1262183810 CA376554264	722	K>E		No	ClinGen gnomAD
CA008592 rs527726480	722	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA037718 rs147216744	728	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA206263712 rs1042740895	728	K>R		No	ClinGen TOPMed
CA376554447 rs1564497340	733	G>D		No	ClinGen Ensembl
rs768217520 CA037784	737	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs761397627 CA037842	741	A>G		No	ClinGen ExAC gnomAD
CA037859 rs552131086	742	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs773256580 CA008602	742	T>M		No	ClinGen ExAC TOPMed gnomAD
rs766035127 CA037897	744	F>L		No	ClinGen ExAC TOPMed gnomAD
rs534094626 CA008609	745	H>L		No	ClinGen 1000Genomes ExAC gnomAD
CA376554656 rs534094626	745	H>P		No	ClinGen 1000Genomes ExAC gnomAD
rs534094626 CA206263731	745	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs755085530 CA037931	746	L>P		No	ClinGen ExAC gnomAD
CA376554716 rs1314127008	748	G>D		No	ClinGen TOPMed gnomAD
rs1210164099 CA376554724	749	R>G		No	ClinGen TOPMed
CA376554730 rs34288963	749	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_041765 CA037950 rs34288963	749	R>T		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs752830000 CA037982	750	A>G		No	ClinGen ExAC gnomAD
rs1554819165 CA376554750	750	A>P		No	ClinGen Ensembl
CA038035 rs778292678	751	G>E		No	ClinGen ExAC TOPMed gnomAD
CA376554762 rs756163867	751	G>R		No	ClinGen ExAC gnomAD
CA038020 rs756163867	751	G>W		No	ClinGen ExAC gnomAD
rs909451217 CA206263751	752	Y>C		No	ClinGen Ensembl
CA376554780 rs984978805	752	Y>D		No	ClinGen gnomAD
CA206263748 rs984978805	752	Y>H		No	ClinGen gnomAD
CA038050 rs749755131	753	T>I		No	ClinGen ExAC gnomAD
rs181856591 CA008622	754	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376554836 rs1256848994	755	V>A		No	ClinGen gnomAD
rs1323183090 COSM1702270 CA376555521 COSM1702271	762	E>D	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA10582723 rs878855060	763	N>D		No	ClinGen Ensembl
CA008624 rs199882293	763	N>I		No	ClinGen ExAC gnomAD
COSM1505474 CA376555535 rs777349208	763	N>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA038434 rs748799148	764	A>T		No	ClinGen ExAC TOPMed gnomAD
CA376555555 rs1442097853	765	S>F		No	ClinGen TOPMed
CA206264383 rs1017108031	766	P>L		No	ClinGen Ensembl
COSM21338 CA008648 rs78014899	768	E>D	thyroid [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA038532 COSM272178 rs775711017	770	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA008664 rs377767414	770	R>Q		No	ClinGen Ensembl
rs1554819392 CA376555619	771	D>N		No	ClinGen Ensembl
rs377767415 CA008672	777	N>S		No	ClinGen ExAC gnomAD
CA008677 rs75686697 COSM3807174 VAR_044395 COSM3807173	778	V>I	a patient with renal agenesis; unknown pathological significance; constitutively phosphorylated breast Renal hypodysplasia/aplasia 1 (rhda1) [UniProt, Cosmic, Ensembl]	No	ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD
CA376555738 rs1588876503	781	Q>E		No	ClinGen Ensembl
rs377767416 CA008687	781	Q>R		No	ClinGen 1000Genomes
rs1267691349 CA376555769	783	N>D		No	ClinGen gnomAD
rs587778656 CA008694	783	N>T		No	ClinGen ExAC TOPMed gnomAD
CA376555803 rs1413429902	785	P>L		No	ClinGen gnomAD
CA376555812 rs1400642102	786	H>Y		No	ClinGen gnomAD
CA376555835 rs1588876533	788	I>V		No	ClinGen Ensembl
rs1352006130 COSM1347812 CA376555847	789	K>E	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1352006130 CA376555845	789	K>Q		No	ClinGen TOPMed gnomAD
CA206264423 rs894525969	789	K>R		No	ClinGen TOPMed
CA008702 rs75030001	790	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA206264428 rs149148794	790	L>W		No	ClinGen Ensembl
CA376555872 rs77724903	791	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377767417 CA008719	791	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA376555883 rs1554819409	792	G>A		No	ClinGen Ensembl
rs1289075493 CA376555876 COSM1347813	792	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1289075493 CA376555880 COSM1347813	792	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA376555898 rs1554819410	793	A>V		No	ClinGen Ensembl
rs1453303247 CA376555985	798	G>D		No	ClinGen gnomAD
rs1380347090 CA376556001	800	L>F		No	ClinGen gnomAD
rs1364361946 CA376556009	801	L>F		No	ClinGen TOPMed
CA376556011 rs1297953850	801	L>H		No	ClinGen gnomAD
rs1338339941 CA376556016	802	L>I		No	ClinGen gnomAD
rs1554819520 CA376556048	804	V>A		No	ClinGen Ensembl
CA008758 rs79658334	804	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA008775 rs377767418	805	E>K		No	ClinGen Ensembl
CA376556055 rs377767418	805	E>Q		No	ClinGen Ensembl
rs553418132 CA10606962	806	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA008779 rs377767419	806	Y>C		No	ClinGen gnomAD
CA039153 rs760012685	807	A>T		No	ClinGen ExAC gnomAD
CA376556090 rs1554819523	807	A>V		No	ClinGen Ensembl
CA376556094 rs1372786615	808	K>E		No	ClinGen gnomAD
rs753446269 CA039188	808	K>N		No	ClinGen ExAC TOPMed gnomAD
rs767945255 CA039164	808	K>T		No	ClinGen ExAC TOPMed gnomAD
rs764784013 CA039212	810	G>S		No	ClinGen ExAC gnomAD
CA008787 rs587778657	811	S>C		No	ClinGen Ensembl
rs779996040 CA039261	813	R>W		No	ClinGen ExAC gnomAD
CA039275 rs751447014	815	F>L		No	ClinGen ExAC TOPMed gnomAD
CA008792 rs142318626	817	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA376556208 rs1345166214	817	R>H		No	ClinGen gnomAD
CA008797 rs377767420	818	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA376556231 rs1588877186	819	S>C		No	ClinGen Ensembl
CA008806 rs377767421	819	S>I		No	ClinGen TOPMed
CA376556234 rs377767421	819	S>N		No	ClinGen TOPMed
rs749421642 CA039364	821	K>E		No	ClinGen ExAC TOPMed gnomAD
CA10578866 rs876659895	821	K>R		No	ClinGen gnomAD
rs1588877202 CA376556277	822	V>M		No	ClinGen Ensembl
rs142779213 CA206266602	823	G>E		No	ClinGen Ensembl
CA10635707 rs138847998	823	G>R		No	ClinGen Ensembl
rs34617196 CA206266604	826	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1445590151 CA376556315	826	Y>H		No	ClinGen gnomAD
rs1445590151 CA376556314	826	Y>N		No	ClinGen gnomAD
VAR_041766 rs34617196 CA039378	826	Y>S		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs912196017 CA206266606	828	G>R		No	ClinGen Ensembl
CA376556347 rs1588877229	828	G>V		No	ClinGen Ensembl
CA039406 rs113005278	829	S>G		No	ClinGen ExAC TOPMed gnomAD
CA376556353 rs943720843	829	S>N		No	ClinGen TOPMed gnomAD
CA376556349 rs113005278	829	S>R		No	ClinGen ExAC TOPMed gnomAD
rs943720843 CA206266609	829	S>T		No	ClinGen TOPMed gnomAD
CA376556362 rs1159027752	830	G>E		No	ClinGen gnomAD
CA039430 rs775981129	831	G>S		No	ClinGen ExAC TOPMed gnomAD
rs760924186 CA039442	831	G>V		No	ClinGen ExAC gnomAD
rs764979358 CA039457	832	S>R		No	ClinGen ExAC gnomAD
rs377767422 CA008813	833	R>C		No	ClinGen ExAC TOPMed gnomAD
CA008821 rs587782636	833	R>H		No	ClinGen ExAC TOPMed gnomAD
rs147433153 CA206266614	834	N>T		No	ClinGen Ensembl
rs1280808741 CA376556409	836	S>N		No	ClinGen gnomAD
rs1588877283 CA376556435	840	H>R		No	ClinGen Ensembl
rs149891333 CA008837 COSM1223554	841	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs149891333 CA206266616	841	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA008860 rs377767423	843	E>D		No	ClinGen Ensembl
CA039575 rs755837568	843	E>K		No	ClinGen ExAC TOPMed gnomAD
COSM1584951 rs55947360 CA008877 COSM918123	844	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs377767424 CA008867	844	R>W		No	ClinGen TOPMed
rs1588877322 CA376556483	845	A>G		No	ClinGen Ensembl
CA039656 rs771150081	846	L>V		No	ClinGen ExAC
rs772684105 CA039702	848	M>I		No	ClinGen ExAC gnomAD
CA008905 rs201101792	848	M>K		No	ClinGen ExAC TOPMed gnomAD
rs794728685 CA376556517	848	M>L		No	ClinGen TOPMed gnomAD
CA376556523 rs201101792	848	M>R		No	ClinGen ExAC TOPMed gnomAD
rs201101792 CA008912	848	M>T		No	ClinGen ExAC TOPMed gnomAD
CA008898 rs794728685	848	M>V		No	ClinGen TOPMed gnomAD
rs761130672 CA039728	849	G>D		No	ClinGen ExAC gnomAD
rs775828448 CA039720	849	G>R		No	ClinGen ExAC gnomAD
CA039763 rs772862503	850	D>N		No	ClinGen ExAC TOPMed gnomAD
rs772862503 CA10578867	850	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1588877364 CA376556552	851	L>F		No	ClinGen Ensembl
rs377767426 CA008919	852	I>M		No	ClinGen ExAC TOPMed gnomAD
rs561276725 CA039781	852	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA376556585 rs1406662248	853	S>L		No	ClinGen TOPMed
rs1300842975 CA376556630	856	W>S		No	ClinGen gnomAD
CA376556664 rs1588877374	857	Q>H		No	ClinGen Ensembl
rs1391432254 CA376556749	863	Q>*		No	ClinGen gnomAD
CA376556753 rs1306975304	863	Q>R		No	ClinGen gnomAD
rs1334494092 CA376556801	866	A>T		No	ClinGen gnomAD
CA039848 rs141459368	867	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA039836 rs758950128	867	E>K		No	ClinGen ExAC gnomAD
rs145170911 CA008940	871	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1588877646 CA376557114	880	I>V		No	ClinGen Ensembl
rs377767427 CA008953	881	L>V		No	ClinGen ExAC gnomAD
CA376557142 rs1293645997	883	A>D		No	ClinGen gnomAD
rs121913306 CA206266780	883	A>F		No	ClinGen Ensembl
rs377767428 CA008975	883	A>T		No	ClinGen Ensembl
CA376557144 rs1293645997	883	A>V		No	ClinGen gnomAD
rs1010091281 CA16613083	885	G>E		No	ClinGen TOPMed gnomAD
CA206266783 rs201487882	885	G>R		No	ClinGen 1000Genomes
CA040313 rs373594744	886	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA008982 rs146838520	886	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA040337 rs774930499	888	M>V		No	ClinGen ExAC gnomAD
rs765065650 CA040416	895	L>F		No	ClinGen ExAC gnomAD
rs761720362 CA040399	895	L>M		No	ClinGen ExAC TOPMed gnomAD
CA16612889 rs1060500759	897	R>*		No	ClinGen Ensembl
rs1060500758 CA16612892	898	D>E		No	ClinGen Ensembl
CA009013 rs587780810	898	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA376557269 rs1468709610	902	E>D		No	ClinGen gnomAD
rs763149032 CA040441	903	D>E		No	ClinGen ExAC gnomAD
CA376557275 rs1423488525	903	D>G		No	ClinGen TOPMed
rs1588877711 CA376557280	904	S>A		No	ClinGen Ensembl
CA009020 rs267607011	904	S>C		No	ClinGen Ensembl
CA009027 rs267607011	904	S>F		No	ClinGen Ensembl
CA040531 rs200627072	906	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs377767431 CA009051	907	K>M		No	ClinGen Ensembl
rs377767430 CA10578869	907	K>Q		No	ClinGen Ensembl
rs753156691 CA040551 COSM961	908	R>K	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1282729859 CA376557316	910	Q>E		No	ClinGen gnomAD
CA040762 COSM188545 rs78347871	912	R>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs78347871 CA009066	912	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA009058 rs78347871	912	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs759637689 CA040783	913	I>L		No	ClinGen ExAC gnomAD
rs753208054 CA040830	918	M>I		No	ClinGen ExAC gnomAD
COSM1347818 CA009073 rs377767442	918	M>V	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1361265737 CA376557487	919	A>P		No	ClinGen TOPMed gnomAD
CA040874 rs778330709	920	I>T		No	ClinGen ExAC gnomAD
rs527787676 CA040857	920	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA009087 VAR_009487 rs377767432	922	S>Y		No	ClinGen UniProt Ensembl dbSNP
CA040885 rs774215008	926	H>D		No	ClinGen ExAC TOPMed gnomAD
CA040896 rs774215008	926	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs893151989 CA206267152	927	I>L		No	ClinGen Ensembl
CA376557651 rs1175933358	931	Q>K		No	ClinGen gnomAD
rs1554819950 CA376557741	939	V>I		No	ClinGen Ensembl
CA376557779 COSM1675176 rs755606269 COSM1675177	944	I>M	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1554819955 CA009096	944	I>S		No	ClinGen Ensembl
CA376557783 rs1408196943	945	V>A		No	ClinGen TOPMed gnomAD
CA376557782 rs1408196943	945	V>E		No	ClinGen TOPMed gnomAD
CA009100 rs587780811	945	V>M		No	ClinGen ExAC gnomAD
CA009107 rs794728687	946	T>I		No	ClinGen Ensembl
rs1453191734 CA376557792	947	L>Q		No	ClinGen gnomAD
CA206267374 rs959204192	950	N>H		No	ClinGen TOPMed gnomAD
CA041308 rs770639985	950	N>I		No	ClinGen ExAC gnomAD
CA376557857 rs1259087541	957	P>L		No	ClinGen gnomAD
rs745650861 COSM1223555 CA041338	959	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs587778658 COSM918126 COSM1584948 CA009124	959	R>W	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs369804828 CA206267377	962	N>S		No	ClinGen ESP
CA350428 rs864622603	963	L>I		No	ClinGen TOPMed gnomAD
rs760765930 CA041399	966	T>I		No	ClinGen ExAC gnomAD
CA041426 rs777007074	967	G>S		No	ClinGen ExAC gnomAD
rs762448300 CA041446	968	H>Y		No	ClinGen ExAC gnomAD
rs1384605415 CA376557948	972	R>K		No	ClinGen gnomAD
CA376557969 rs1194221807	975	N>Y		No	ClinGen gnomAD
CA041466 rs375414982	977	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA376557987 rs1241725166	977	S>T		No	ClinGen gnomAD
CA041492 rs758800351	978	E>K		No	ClinGen ExAC TOPMed gnomAD
CA041535 rs752352085	979	E>G		No	ClinGen ExAC gnomAD
rs1554819976 CA009137	980	M>K		No	ClinGen Ensembl
rs17158558 CA009143 VAR_006349	982	R>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1264016 rs368550200 CA041809	982	R>H	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs368550200 CA206267553	982	R>L		No	ClinGen ExAC TOPMed gnomAD
CA376558053 rs1240309421	985	L>R		No	ClinGen gnomAD
rs1554820052 CA376558081	989	K>E		No	ClinGen Ensembl
CA376558082 rs1279354014	989	K>T		No	ClinGen gnomAD
CA376558101 rs1351903863	991	E>D		No	ClinGen TOPMed gnomAD
COSM3665731 CA041836 COSM3665730 rs758191409	992	P>L	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA376558107 rs758191409	992	P>R		No	ClinGen ExAC gnomAD
rs1368893442 CA376558115	993	D>E		No	ClinGen TOPMed
rs1490223704 CA376558117	994	K>E		No	ClinGen gnomAD
CA009156 rs199718928	994	K>N	Renal hypodysplasia/aplasia 1 (rhda1) [Ensembl]	No	ClinGen ExAC TOPMed gnomAD
rs1588880114 CA376558135	996	P>L		No	ClinGen Ensembl
rs781236624 CA041881	997	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1363037947 CA376558149	999	A>T		No	ClinGen gnomAD
rs748288493 CA041903	999	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1385462063 CA376558168	1001	I>M		No	ClinGen gnomAD
COSM327231 CA041961 rs763489828	1002	S>N	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA041947 rs773872326	1002	S>R		No	ClinGen ExAC gnomAD
CA376558177 rs1392503702	1003	K>Q		No	ClinGen gnomAD
CA376558186 rs1328724775	1004	D>A		No	ClinGen gnomAD
CA376558187 rs1328724775	1004	D>G		No	ClinGen gnomAD
rs774840230 CA042015	1007	K>E		No	ClinGen ExAC gnomAD
CA042024 rs759798237	1007	K>M		No	ClinGen ExAC gnomAD
rs786204098 CA376558208	1007	K>N		No	ClinGen Ensembl
CA009170 rs786204098	1007	K>N		No	ClinGen Ensembl
CA376558209 rs1554820077	1008	M>L		No	ClinGen Ensembl
CA206267565 rs1007307889	1009	M>I		No	ClinGen TOPMed
rs375213011 CA042037	1009	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA376558219 rs1554820079	1009	M>V		No	ClinGen Ensembl
rs1554820081 CA376558226	1010	V>F		No	ClinGen Ensembl
rs368345402 CA206267567	1011	K>E		No	ClinGen ESP TOPMed
rs1242806367 CA376558233	1011	K>T		No	ClinGen gnomAD
CA376558242 rs1340104694	1012	R>K		No	ClinGen gnomAD
rs1371047639 CA376558264	1014	D>N		No	ClinGen TOPMed
CA376558276 rs1438192223	1015	Y>C		No	ClinGen TOPMed
rs1405858449 CA376558273	1015	Y>H		No	ClinGen TOPMed gnomAD
rs993057046 CA376558292	1017	D>E		No	ClinGen TOPMed gnomAD
CA206267820 rs993057046	1017	D>E		No	ClinGen TOPMed gnomAD
CA042384 rs762414334	1017	D>G		No	ClinGen ExAC gnomAD
rs1554820153 CA376558287	1017	D>N		No	ClinGen Ensembl
CA042397 rs766330880	1018	L>F		No	ClinGen ExAC TOPMed gnomAD
CA376558293 rs766330880	1018	L>I		No	ClinGen ExAC TOPMed gnomAD
CA376558297 rs1463840144	1018	L>R		No	ClinGen TOPMed
rs1371891301 CA376558303	1019	A>V		No	ClinGen TOPMed
CA206267823 rs372191563	1020	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA042456 rs372191563	1020	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376558312 rs1283816490	1021	S>F		No	ClinGen gnomAD
rs1207742610 CA376558315	1022	T>A		No	ClinGen gnomAD
rs1262202036 CA376558319	1022	T>I		No	ClinGen gnomAD
CA206267826 rs138912894	1023	P>L		No	ClinGen ESP TOPMed
CA042485 rs752534928	1024	S>C		No	ClinGen ExAC gnomAD
CA376558339 rs1588880990	1026	S>P		No	ClinGen Ensembl
CA376558343 rs1588880993	1026	S>Y		No	ClinGen Ensembl
rs1564501868 CA376558345	1027	L>V		No	ClinGen Ensembl
CA376558362 rs925950557	1029	Y>*		No	ClinGen TOPMed
CA206267831 rs200989078	1031	D>N		No	ClinGen 1000Genomes TOPMed gnomAD
rs757373375 CA042562	1032	G>S		No	ClinGen ExAC TOPMed gnomAD
CA009187 rs201740483	1038	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA042623 rs200021472	1038	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA009192 VAR_009488 rs79853121	1039	P>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA376558438 rs1554820165	1041	V>G		No	ClinGen Ensembl
CA376558445 rs1554820168	1042	D>E		No	ClinGen Ensembl
rs867206631 CA206267840	1042	D>N		No	ClinGen gnomAD
CA376558448 rs1367574614	1043	C>G		No	ClinGen gnomAD
CA042693 rs769476062	1043	C>Y		No	ClinGen ExAC gnomAD
CA042721 rs772807570	1044	N>S		No	ClinGen ExAC gnomAD
rs1366823168 CA376558462	1045	N>Y		No	ClinGen gnomAD
CA376558472 rs945693739	1046	A>G		No	ClinGen TOPMed gnomAD
CA206267843 rs945693739	1046	A>V		No	ClinGen TOPMed gnomAD
rs1305293392 CA376558477	1047	P>L		No	ClinGen gnomAD
COSM233253 rs369152977 CA206267845	1047	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA042782 rs774347808	1048	L>F		No	ClinGen ExAC TOPMed gnomAD
CA042766 rs774347808	1048	L>V		No	ClinGen ExAC TOPMed gnomAD
VAR_044397 rs1490712863 CA376558487	1049	P>L	a patient with renal agenesis; unknown pathological significance; prevents phosphorylation in response to GDNF [UniProt]	No	ClinGen UniProt dbSNP gnomAD
CA376558484 rs1588881090	1049	P>S		No	ClinGen Ensembl
CA042793 rs767479170	1050	R>G		No	ClinGen ExAC TOPMed gnomAD
rs200956659 CA042811	1050	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1564501944 CA376558496	1051	A>V		No	ClinGen Ensembl
rs754066766 CA042849	1053	P>T		No	ClinGen ExAC gnomAD
rs1439440590 CA376558515	1055	T>A		No	ClinGen TOPMed gnomAD
rs1425454966 CA376558522	1056	W>*		No	ClinGen gnomAD
CA376558527 rs1302642973	1056	W>C		No	ClinGen gnomAD
CA376558524 rs1425454966	1056	W>L		No	ClinGen gnomAD
rs373423271 CA376558520	1056	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs373423271 CA042873	1056	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA042895 rs758877145	1057	I>T		No	ClinGen ExAC gnomAD
CA042887 rs750501039	1057	I>V		No	ClinGen ExAC gnomAD
rs569004816 CA042934	1058	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs780578577 CA042907	1058	E>G		No	ClinGen ExAC TOPMed gnomAD
CA042918 rs780578577	1058	E>V		No	ClinGen ExAC TOPMed gnomAD
CA376558541 rs772395752	1059	N>I		No	ClinGen TOPMed gnomAD
rs1014122393 CA16613097	1059	N>K		No	ClinGen gnomAD
rs1014122393 CA206267862	1059	N>K		No	ClinGen gnomAD
rs772395752 CA206267860	1059	N>S		No	ClinGen TOPMed gnomAD
rs1055571837 CA206267859	1059	N>Y		No	ClinGen Ensembl
CA376558547 rs1361161086	1060	K>N		No	ClinGen gnomAD
CA206267864 rs370756353	1060	K>R		No	ClinGen ESP TOPMed
rs1246188511 CA376558551	1061	L>F		No	ClinGen gnomAD
CA376558552 rs536486113	1061	L>H		No	ClinGen 1000Genomes ExAC gnomAD
CA376558553 rs536486113	1061	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA042977 rs138010639	1062	Y>H		No	ClinGen ESP ExAC gnomAD
rs138010639 CA376558555	1062	Y>N		No	ClinGen ESP ExAC gnomAD
CA376558561 rs1564502015	1063	G>R		No	ClinGen Ensembl
rs144730090 CA054728	1064	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA054742 rs180700967	1066	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA054768 rs760625882	1067	P>L		No	ClinGen ExAC TOPMed gnomAD
CA376558804 rs1333162561	1068	N>Y		No	ClinGen gnomAD
CA376558827 rs1432376339	1069	W>R		No	ClinGen TOPMed gnomAD
CA376558860 rs1321512022	1071	G>R		No	ClinGen TOPMed
CA376558868 rs1339225160	1072	E>Q		No	ClinGen gnomAD
rs763823142 CA206268154	1073	S>R		No	ClinGen Ensembl
CA054805 rs751191202	1075	V>A		No	ClinGen ExAC gnomAD
rs1060499895 RCV000455536	1079	R>missing		No	ClinVar dbSNP
CA054864 rs751631684	1080	A>T		No	ClinGen ExAC gnomAD
rs1448966643 CA376558938	1080	A>V		No	ClinGen gnomAD
rs144192900 CA376558951	1081	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs753047418 CA054892	1083	T>I		No	ClinGen ExAC gnomAD
rs756465544 CA010930	1085	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1245283352 CA376559046	1089	R>I		No	ClinGen TOPMed
CA376559069 rs745469112	1090	Y>*		No	ClinGen ExAC gnomAD
rs757852794 CA010944	1092	N>S		No	ClinGen ExAC gnomAD
CA376559111 rs1564502609	1093	D>G		No	ClinGen Ensembl
CA376559121 rs1171787901 COSM1492240	1094	S>G	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA376559149 RCV000494324 rs1131691861	1096	Y>*		No	ClinGen ClinVar Ensembl dbSNP
rs746493433 CA5476485	1096	Y>H		No	ClinGen ExAC
rs776668647 CA055006	1097	A>G		No	ClinGen ExAC gnomAD
CA055027 rs747917164	1100	M>I		No	ClinGen ExAC gnomAD
rs769570496 CA055038	1101	L>P		No	ClinGen ExAC gnomAD
rs773306778 CA055049	1102	S>L		No	ClinGen ExAC gnomAD
CA376559230 rs1305555370	1102	S>P		No	ClinGen TOPMed gnomAD
CA376559254 rs1233085587	1104	S>P		No	ClinGen TOPMed gnomAD
CA376559282 rs1338777037	1106	A>G		No	ClinGen TOPMed gnomAD
rs774465548 CA055075	1108	L>*		No	ClinGen ExAC gnomAD
CA376559320 rs587780813 RCV000994380	1109	M>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs759584544 CA055085	1109	M>V		No	ClinGen ExAC gnomAD
CA206268174 rs1003057639	1111	T>M		No	ClinGen TOPMed
COSM1347829 rs756449491 CA055110	1112	F>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD

8 associated diseases with P07949

[MIM: 114500]: Colorectal cancer (CRC)

A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The disease may be caused by variants affecting the gene represented in this entry.

[MIM: 142623]: Hirschsprung disease 1 (HSCR1)

A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. {ECO:0000269|PubMed:10090908, ECO:0000269|PubMed:10484767, ECO:0000269|PubMed:10618407, ECO:0000269|PubMed:22174939, ECO:0000269|PubMed:7581377, ECO:0000269|PubMed:7633441, ECO:0000269|PubMed:7704557, ECO:0000269|PubMed:7881414, ECO:0000269|PubMed:8114938, ECO:0000269|PubMed:8114939, ECO:0000269|PubMed:9043870, ECO:0000269|PubMed:9090527, ECO:0000269|PubMed:9094028, ECO:0000269|PubMed:9259198, ECO:0000269|PubMed:9384613, ECO:0000269|PubMed:9497256, ECO:0000269|Ref.63}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 155240]: Medullary thyroid carcinoma (MTC)

Rare tumor derived from the C cells of the thyroid. Three hereditary forms are known, that are transmitted in an autosomal dominant fashion

[MIM: 162300]: Multiple neoplasia 2B (MEN2B)

Uncommon inherited cancer syndrome characterized by predisposition to MTC and phaeochromocytoma which is associated with marfanoid habitus, mucosal neuromas, skeletal and ophthalmic abnormalities, and ganglioneuromas of the intestine tract. Then the disease progresses rapidly with the development of metastatic MTC and a pheochromocytome in 50% of cases. {ECO:0000269|PubMed:7906417, ECO:0000269|PubMed:7906866, ECO:0000269|PubMed:7911697, ECO:0000269|PubMed:8595427, ECO:0000269|PubMed:8807338, ECO:0000269|PubMed:9294615, ECO:0000269|PubMed:9360560}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 171300]: Pheochromocytoma (PCC)

A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. {ECO:0000269|PubMed:12000816}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

[MIM: 171400]: Multiple neoplasia 2A (MEN2A)

The most frequent form of medullary thyroid cancer (MTC). It is an inherited cancer syndrome characterized by MTC, phaeochromocytoma and/or hyperparathyroidism. {ECO:0000269|PubMed:10522989, ECO:0000269|PubMed:7860065, ECO:0000269|PubMed:7874109, ECO:0000269|PubMed:7881414, ECO:0000269|PubMed:7915165, ECO:0000269|PubMed:8099202, ECO:0000269|PubMed:8103403, ECO:0000269|PubMed:8626834, ECO:0000269|PubMed:8807338, ECO:0000269|PubMed:9097963, ECO:0000269|PubMed:9384613, ECO:0000269|PubMed:9452064}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The disease may be caused by variants affecting the gene represented in this entry.
A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. {ECO:0000269|PubMed:10090908, ECO:0000269|PubMed:10484767, ECO:0000269|PubMed:10618407, ECO:0000269|PubMed:22174939, ECO:0000269|PubMed:7581377, ECO:0000269|PubMed:7633441, ECO:0000269|PubMed:7704557, ECO:0000269|PubMed:7881414, ECO:0000269|PubMed:8114938, ECO:0000269|PubMed:8114939, ECO:0000269|PubMed:9043870, ECO:0000269|PubMed:9090527, ECO:0000269|PubMed:9094028, ECO:0000269|PubMed:9259198, ECO:0000269|PubMed:9384613, ECO:0000269|PubMed:9497256, ECO:0000269|Ref.63}. Note=The disease is caused by variants affecting the gene represented in this entry.
Rare tumor derived from the C cells of the thyroid. Three hereditary forms are known, that are transmitted in an autosomal dominant fashion
Uncommon inherited cancer syndrome characterized by predisposition to MTC and phaeochromocytoma which is associated with marfanoid habitus, mucosal neuromas, skeletal and ophthalmic abnormalities, and ganglioneuromas of the intestine tract. Then the disease progresses rapidly with the development of metastatic MTC and a pheochromocytome in 50% of cases. {ECO:0000269|PubMed:7906417, ECO:0000269|PubMed:7906866, ECO:0000269|PubMed:7911697, ECO:0000269|PubMed:8595427, ECO:0000269|PubMed:8807338, ECO:0000269|PubMed:9294615, ECO:0000269|PubMed:9360560}. Note=The disease is caused by variants affecting the gene represented in this entry.
A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. {ECO:0000269|PubMed:12000816}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
The most frequent form of medullary thyroid cancer (MTC). It is an inherited cancer syndrome characterized by MTC, phaeochromocytoma and/or hyperparathyroidism. {ECO:0000269|PubMed:10522989, ECO:0000269|PubMed:7860065, ECO:0000269|PubMed:7874109, ECO:0000269|PubMed:7881414, ECO:0000269|PubMed:7915165, ECO:0000269|PubMed:8099202, ECO:0000269|PubMed:8103403, ECO:0000269|PubMed:8626834, ECO:0000269|PubMed:8807338, ECO:0000269|PubMed:9097963, ECO:0000269|PubMed:9384613, ECO:0000269|PubMed:9452064}. Note=The disease is caused by variants affecting the gene represented in this entry.

9 regional properties for P07949

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	724 - 1016	IPR000719
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	725 - 1005	IPR001245
domain	Cadherin-like	168 - 272	IPR002126
active_site	Tyrosine-protein kinase, active site	870 - 882	IPR008266
binding_site	Protein kinase, ATP binding site	730 - 758	IPR017441
domain	Tyrosine-protein kinase, catalytic domain	724 - 1005	IPR020635
domain	Tyrosine-protein kinase receptor Ret, cadherin like domain 3	265 - 379	IPR040667
domain	Ret, cadherin like domain 1	29 - 153	IPR041163
domain	RET, cadherin-like domain 4	405 - 506	IPR041317

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein Endosome membrane ; Single-pass type I membrane protein	Predominantly located on the plasma membrane (PubMed:23333276, PubMed:9575150) In the presence of SORL1 and GFRA1, directed to endosomes (PubMed:23333276)
PANTHER Family	PTHR24416	TYROSINE-PROTEIN KINASE RECEPTOR
PANTHER Subfamily	PTHR24416:SF485	PROTO-ONCOGENE TYROSINE-PROTEIN KINASE RECEPTOR RET
PANTHER Protein Class	transmembrane signal receptor
PANTHER Pathway Category	No pathway information available

10 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.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
early endosome	A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
endosome membrane	The lipid bilayer surrounding an endosome.
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.
membrane raft	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes 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.
plasma membrane protein complex	Any protein complex that is part of the plasma membrane.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

6 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
calcium ion binding	Binding to a calcium ion (Ca2+).
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.
signaling receptor activity	Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.
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.

39 GO annotations of biological process

Name	Definition
activation of cysteine-type endopeptidase activity involved in apoptotic process	Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process.
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
cellular response to retinoic acid	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a retinoic acid stimulus.
embryonic epithelial tube formation	The morphogenesis of an embryonic epithelium into a tube-shaped structure.
enteric nervous system development	The process whose specific outcome is the progression of the enteric nervous system over time, from its formation to the mature structure. The enteric nervous system is composed of two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gall bladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation.
glial cell-derived neurotrophic factor receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a glial cell-derived neurotrophic factor receptor.
homophilic cell adhesion via plasma membrane adhesion molecules	The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell.
innervation	The process in which a nerve invades a tissue and makes functional synaptic connection within the tissue.
lymphocyte migration into lymphoid organs	The movement of a lymphocyte within the lymphatic system into lymphoid organs such as lymph nodes, spleen or Peyer's patches, and its subsequent positioning within defined functional compartments such as sites of cell activation by antigen.
MAPK cascade	An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell.
membrane protein proteolysis	The proteolytic cleavage of a transmembrane protein leading to the release of its intracellular or ecto-domains.
neural crest cell migration	The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo.
neuron cell-cell adhesion	The attachment of a neuron to another cell via adhesion molecules.
neuron maturation	A developmental process, independent of morphogenetic (shape) change, that is required for a neuron to attain its fully functional state.
Peyer's patch morphogenesis	The process in which a Peyer's patch is generated and organized. Peyer's patches are typically found as nodules associated with gut epithelium with distinct internal structures including B- and T-zones for the activation of lymphocytes.
positive regulation of cell adhesion mediated by integrin	Any process that activates or increases the frequency, rate, or extent of cell adhesion mediated by integrin.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of cell size	Any process that increases cell size.
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	Any process that activates or increases the frequency, rate or extent of extrinsic apoptotic signaling pathway in absence of ligand.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
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 MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of metanephric glomerulus development	Any process that increases the rate, frequency or extent of metanephric glomerulus development, the progression of the metanephric glomerulus over time from its initial formation until its mature state. The metanephric glomerulus is a capillary tuft surrounded by Bowman's capsule in nephrons of the vertebrate kidney, or metanephros.
positive regulation of neuron maturation	Any process that activates or increases the frequency, rate or extent of neuron maturation.
positive regulation of neuron projection development	Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
positive regulation of peptidyl-serine phosphorylation of STAT protein	Any process that activates or increases the frequency, rate or extent of the phosphorylation of a serine residue of a STAT (Signal Transducer and Activator of Transcription) protein.
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 transcription, DNA-templated	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
posterior midgut development	The process whose specific outcome is the progression of the posterior midgut over time, from its formation to the mature structure.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of axonogenesis	Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron.
regulation of cell adhesion	Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix.
response to pain	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a pain stimulus. Pain stimuli cause activation of nociceptors, peripheral receptors for pain, include receptors which are sensitive to painful mechanical stimuli, extreme heat or cold, and chemical stimuli.
response to xenobiotic stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
retina development in camera-type eye	The process whose specific outcome is the progression of the retina over time, from its formation to the mature structure. The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
transmembrane receptor protein tyrosine kinase signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.
ureter maturation	A developmental process, independent of morphogenetic (shape) change, that is required for the ureter to attain its fully functional state. The ureter is a muscular tube that transports urine from the kidney to the urinary bladder or from the Malpighian tubule to the hindgut.
ureteric bud development	The process whose specific outcome is the progression of the ureteric bud over time, from its formation to the mature structure.

96 homologous proteins in AiPD

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

10	20	30	40	50	60
MAKATSGAAG	LRLLLLLLLP	LLGKVALGLY	FSRDAYWEKL	YVDQAAGTPL	LYVHALRDAP
70	80	90	100	110	120
EEVPSFRLGQ	HLYGTYRTRL	HENNWICIQE	DTGLLYLNRS	LDHSSWEKLS	VRNRGFPLLT
130	140	150	160	170	180
VYLKVFLSPT	SLREGECQWP	GCARVYFSFF	NTSFPACSSL	KPRELCFPET	RPSFRIRENR
190	200	210	220	230	240
PPGTFHQFRL	LPVQFLCPNI	SVAYRLLEGE	GLPFRCAPDS	LEVSTRWALD	REQREKYELV
250	260	270	280	290	300
AVCTVHAGAR	EEVVMVPFPV	TVYDEDDSAP	TFPAGVDTAS	AVVEFKRKED	TVVATLRVFD
310	320	330	340	350	360
ADVVPASGEL	VRRYTSTLLP	GDTWAQQTFR	VEHWPNETSV	QANGSFVRAT	VHDYRLVLNR
370	380	390	400	410	420
NLSISENRTM	QLAVLVNDSD	FQGPGAGVLL	LHFNVSVLPV	SLHLPSTYSL	SVSRRARRFA
430	440	450	460	470	480
QIGKVCVENC	QAFSGINVQY	KLHSSGANCS	TLGVVTSAED	TSGILFVNDT	KALRRPKCAE
490	500	510	520	530	540
LHYMVVATDQ	QTSRQAQAQL	LVTVEGSYVA	EEAGCPLSCA	VSKRRLECEE	CGGLGSPTGR
550	560	570	580	590	600
CEWRQGDGKG	ITRNFSTCSP	STKTCPDGHC	DVVETQDINI	CPQDCLRGSI	VGGHEPGEPR
610	620	630	640	650	660
GIKAGYGTCN	CFPEEEKCFC	EPEDIQDPLC	DELCRTVIAA	AVLFSFIVSV	LLSAFCIHCY
670	680	690	700	710	720
HKFAHKPPIS	SAEMTFRRPA	QAFPVSYSSS	GARRPSLDSM	ENQVSVDAFK	ILEDPKWEFP
730	740	750	760	770	780
RKNLVLGKTL	GEGEFGKVVK	ATAFHLKGRA	GYTTVAVKML	KENASPSELR	DLLSEFNVLK
790	800	810	820	830	840
QVNHPHVIKL	YGACSQDGPL	LLIVEYAKYG	SLRGFLRESR	KVGPGYLGSG	GSRNSSSLDH
850	860	870	880	890	900
PDERALTMGD	LISFAWQISQ	GMQYLAEMKL	VHRDLAARNI	LVAEGRKMKI	SDFGLSRDVY
910	920	930	940	950	960
EEDSYVKRSQ	GRIPVKWMAI	ESLFDHIYTT	QSDVWSFGVL	LWEIVTLGGN	PYPGIPPERL
970	980	990	1000	1010	1020
FNLLKTGHRM	ERPDNCSEEM	YRLMLQCWKQ	EPDKRPVFAD	ISKDLEKMMV	KRRDYLDLAA
1030	1040	1050	1060	1070	1080
STPSDSLIYD	DGLSEEETPL	VDCNNAPLPR	ALPSTWIENK	LYGMSDPNWP	GESPVPLTRA
1090	1100	1110
DGTNTGFPRY	PNDSVYANWM	LSPSAAKLMD	TFDS