AiPD: Autoinhibited Protein Database

Q9P2K8

Gene name	EIF2AK4 (GCN2, KIAA1338)
Protein name	eIF-2-alpha kinase GCN2
Names	Eukaryotic translation initiation factor 2-alpha kinase 4, GCN2-like protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:440275
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class	EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE EIF2-ALPHA KINASE -RELATED (PTHR11042)

Descriptions

GCN2 (General control non-derepressible protein 2) is an eIF-2α kinase, which phosphorylates eIF-2α in response to low amino acid availability, initiating the integrated stress response (ISR). GCN2 has five conserved folded domains: an N-terminal RWD (RING-finger proteins, WD repeat-containing proteins and the yeast DEAD-like helicases) domain, a pseudokinase domain, a catalytically active kinase domain, a ‘HisRS-like’ domain (named due to sequence similarity to histidyl-tRNA synthetase) and a C-terminal domain (or CTD). In addition to this, there is also is a ‘charged linker’ region, a likely unstructured region found between the RWD and pseudokinase domains. In a basal state (in non-starved cells), GCN2 forms an inactive homodimer, with multiple autoinhibitory interactions occurring between the CTD, the HisRS-like domains and the kinase domains preventing aberrant activation of the kinase. Also, the charged linker region of GCN2, located between RWD and pseudokinase domains, played an additional, smaller role in inhibiting the enzyme.
The activation of GCN2 (upon amino acid starvation) is linked to a structural rearrangement and ultimately to a release of these multidomain autoinhibitory contacts, while still maintaining a dimeric structure. Once opened, the kinase domain is free to autophosphorylate two threonine residues in the activation loop of the kinase domain, causing a stabilization the active state.

Autoinhibitory domains (AIDs)

Target domain	590-1001 (Protein kinase domain)
Relief mechanism	Ligand binding, Partner binding
Assay	Deletion assay

AID

1058-1490 (HisRS-like catalytic domain)

Target domain

590-1001 (Protein kinase domain)

Relief mechanism

Ligand binding (Binding of deacylated tRNA accumulated upon amino acid starvation to HisRS-like domain), Partner binding (Binding of ribosome)

Assay

Deletion assay

Target domain	590-1001 (Protein kinase domain)
Relief mechanism	Partner binding
Assay	Deletion assay

AID

1533-1649 (C-terminal domain, CTD)

Target domain

590-1001 (Protein kinase domain)

Relief mechanism

Partner binding (Binding of ribosome)

Assay

Deletion assay

Target domain	590-1001 (Protein kinase domain)
Relief mechanism	Partner binding
Assay	Deletion assay

AID

137-176 (charged linker)

Target domain

590-1001 (Protein kinase domain)

Relief mechanism

Partner binding (Binding of RWD domain of GCN2 to C-termini of GCN1 and GCN20)

Assay

Deletion assay

Accessory elements

865-874 (Activation loop from InterPro)

Target domain	590-1001 (Protein kinase domain)
Relief mechanism
Assay

881-889 (Activation loop from InterPro)

Target domain	590-1001 (Protein kinase domain)
Relief mechanism
Assay

895-906 (Activation loop from InterPro)

Target domain	590-1001 (Protein kinase domain)
Relief mechanism
Assay

References

Masson GR (2019) "Towards a model of GCN2 activation", Biochemical Society transactions, 47, 1481-1488

Romano PR et al. (1998) "Autophosphorylation in the activation loop is required for full kinase activity in vivo of human and yeast eukaryotic initiation factor 2alpha kinases PKR and GCN2", Molecular and cellular biology, 18, 2282-97

Inglis AJ et al. (2019) "Activation of GCN2 by the ribosomal P-stalk", Proceedings of the National Academy of Sciences of the United States of America, 116, 4946-4954

Padyana AK et al. (2005) "Structural basis for autoinhibition and mutational activation of eukaryotic initiation factor 2alpha protein kinase GCN2", The Journal of biological chemistry, 280, 29289-99

Autoinhibited structure

Activated structure

8 structures for Q9P2K8

Entry ID	Method	Resolution	Chain	Position	Source
6N3L	X-ray	261 A			PDB
6N3N	X-ray	301 A	A	577-1013	PDB
6N3O	X-ray	240 A	A	577-1013	PDB
7E2K	X-ray	204 A	A	17-139	PDB
7E2M	X-ray	235 A	A/B/C/D/E/F	17-139	PDB
7QQ6	X-ray	280 A	A/B/C/D	577-1020	PDB
7QWK	X-ray	230 A	A/B/C/D/E/F/G/H	1-1649	PDB
AF-Q9P2K8-F1	Predicted				AlphaFoldDB

1208 variants for Q9P2K8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001289847 rs2034029835	28	Q>*	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinVar dbSNP
RCV001003761 rs1595541066	94	N>missing	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinVar dbSNP
rs1085307439 RCV000488788	118	C>W	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinVar dbSNP
RCV000319705 rs772487425 RCV000488528	187	K>missing	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinVar dbSNP
rs587777104 RCV000083308	190	K>missing	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinVar dbSNP
RCV001851301 CA7473620 rs202140402 RCV000488705	249	R>*	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA7473710 rs750055012 RCV002537954 RCV001287133	360	R>C	Familial pulmonary capillary hemangiomatosis Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001854511 RCV000087755 rs775819448	385	V>missing	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinVar dbSNP
rs1595552181 RCV001003762	387	L>missing	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinVar dbSNP
rs2291627 VAR_040481 RCV000418964 RCV002062405 RCV000999785 CA7473752	441	I>L	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA149758 RCV000083311 rs587777107	463	R>*	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000083306 rs587777102	465	R>missing	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinVar dbSNP
rs376877634 RCV000488704	519	C>D	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinVar dbSNP
RCV002062397 CA7473839 RCV000755517 rs2307105 RCV000425189	556	E>G	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs541667530 CA7473844 RCV001285279	565	I>T	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1595402535 RCV001003763	581	R>missing	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinVar dbSNP
RCV000083310 VAR_070990 rs587777106 CA149757	585	R>Q	Familial pulmonary capillary hemangiomatosis Variant assessed as Somatic; 0.0 impact. PVOD2 [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
VAR_070990 rs587777106	585	R>Q	PVOD2 [UniProt]	Yes	UniProt dbSNP
rs1291600097 CA391682936 RCV001003764	599	G>R	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001003765 CA391683579 rs1595403854	607	V>G	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA7473885 RCV000488861 rs757852728 VAR_070991	643	L>R	Familial pulmonary capillary hemangiomatosis PVOD2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
VAR_070991 rs757852728	643	L>R	PVOD2 [UniProt]	Yes	UniProt dbSNP
RCV000894047 RCV001286399 rs201342617 CA7473906	674	P>S	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs751247185 RCV000488596	714	S>missing	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinVar dbSNP
RCV001808830 rs377237751 RCV000948424 RCV000454442	736	D>missing	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinVar dbSNP
RCV000488486 CA7474049 rs774163084	820	R>*	Familial pulmonary capillary hemangiomatosis Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV000971618 rs17848491 RCV002285165 RCV001287878 CA7474107	888	D>H	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001003766 rs1595414835 CA391691380	909	S>R	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1595418005 RCV001003767	948	I>missing	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinVar dbSNP
RCV000488559 CA391692096 rs759101551	953	Q>*	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs767131900 RCV001003768	1019	L>missing	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinVar dbSNP
RCV001003769 rs760842663 CA7474231	1033	Q>*	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs201056702 RCV002544610 CA7474268 RCV000943868	1059	R>C	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000488475 rs1085307443 CA391694477	1082	Q>*	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001003770 CA7474310 rs771359303	1109	G>R	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000488662 rs774906916 CA7474312	1115	P>L	Familial pulmonary capillary hemangiomatosis Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV000083309 RCV001854454 rs587777105 CA149755	1136	R>*	Familial pulmonary capillary hemangiomatosis Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
RCV000087757 CA150738 rs587777208	1150	R>*	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA391696023 rs1159906680 RCV001003771	1202	H>L	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA150736 rs587777207 RCV000087756 RCV001857427	1256	R>*	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA149752 rs587777103 RCV000083307	1268	Q>*	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1595431276 RCV001003772 CA391696706	1295	L>R	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_040485 RCV000999798 RCV000427604 RCV002062399 CA7474471 rs35602605	1306	G>C	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs35480871 RCV000757210 RCV003103836 CA7474491 VAR_040486	1336	K>R	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002528228 RCV000488784 rs1085307444	1403	S>missing	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinVar dbSNP
RCV001860540 RCV001003773 rs1181863323	1465	K>*	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinVar dbSNP
rs1595437286 RCV002549223 RCV001003774	1468	E>missing	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinVar dbSNP
RCV001003775 rs745339673	1473	T>missing	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinVar dbSNP
rs1327297003 RCV000826105	1533	I>missing	Pulmonary venoocclusive disease 1, autosomal dominant [ClinVar]	Yes	ClinVar dbSNP
RCV001287756 rs2035596973	1634	V>missing	Familial pulmonary capillary hemangiomatosis [ClinVar]	Yes	ClinVar dbSNP
rs745785010 CA7473356	3	G>R		No	ClinGen ExAC TOPMed gnomAD
rs780175001 CA7473358	4	G>A		No	ClinGen ExAC TOPMed gnomAD
CA7473357 rs772178376	4	G>C		No	ClinGen ExAC gnomAD
CA391685843 rs780175001	4	G>D		No	ClinGen ExAC TOPMed gnomAD
CA391685848 rs780175001	4	G>V		No	ClinGen ExAC TOPMed gnomAD
CA7473359 rs746773845	5	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7473360 rs746773845	5	R>G		No	ClinGen ExAC TOPMed gnomAD
CA391685856 rs1345360796	5	R>P		No	ClinGen gnomAD
rs776846678 CA7473361	7	A>P		No	ClinGen ExAC TOPMed gnomAD
CA391685877 rs776846678	7	A>S		No	ClinGen ExAC TOPMed gnomAD
CA391685876 rs776846678	7	A>T		No	ClinGen ExAC TOPMed gnomAD
rs913851324 CA268745447	7	A>V		No	ClinGen gnomAD
rs1315471968 CA391685887	8	P>S		No	ClinGen TOPMed gnomAD
CA7473365 rs773331885	9	G>E		No	ClinGen ExAC gnomAD
rs773331885 CA7473364	9	G>V		No	ClinGen ExAC gnomAD
CA7473366 rs766830247	11	G>R		No	ClinGen ExAC gnomAD
rs766830247 CA268745463	11	G>S		No	ClinGen ExAC gnomAD
rs1166947460 CA391685964	12	R>Q		No	ClinGen gnomAD
CA268745471 rs902159029	13	D>E		No	ClinGen TOPMed
rs1418526168 CA391685979	13	D>N		No	ClinGen TOPMed gnomAD
CA391685971 rs1418526168	13	D>Y		No	ClinGen TOPMed gnomAD
rs774742348 CA7473367	14	E>Q		No	ClinGen ExAC gnomAD
rs759887590 CA7473368	15	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1443167446 CA391686052	16	P>A		No	ClinGen gnomAD
CA268745496 rs922734815	16	P>L		No	ClinGen TOPMed gnomAD
rs922734815 CA391686062	16	P>R		No	ClinGen TOPMed gnomAD
rs1489318389 CA391686116	18	S>I		No	ClinGen gnomAD
rs753520346 CA7473370	20	P>R		No	ClinGen ExAC gnomAD
CA391686161 rs1355402531	21	Q>*		No	ClinGen gnomAD
rs749915180 CA7473373	23	Q>E		No	ClinGen ExAC gnomAD
rs758007786 CA7473374	23	Q>H		No	ClinGen ExAC
CA391686240 rs1308786743	24	D>N		No	ClinGen gnomAD
rs374991853 CA391686290	25	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	31	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1208550068 CA391686543	35	G>D		No	ClinGen TOPMed
rs773452712 CA7473381	36	A>E		No	ClinGen ExAC gnomAD
TCGA novel	36	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1417044761 CA391686550	36	A>T		No	ClinGen gnomAD
CA391686563 rs773452712	36	A>V		No	ClinGen ExAC gnomAD
rs1311239157 CA391686591	37	D>E		No	ClinGen TOPMed
CA7473383 rs771007706	39	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs372615103 CA7473385	42	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs761154197 CA391686703	44	D>E		No	ClinGen ExAC TOPMed gnomAD
rs761154197 CA7473388	44	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1355293664 CA391686698	44	D>N		No	ClinGen TOPMed gnomAD
rs1355293664 CA391686699	44	D>Y		No	ClinGen TOPMed gnomAD
rs1272475955 CA391686712	46	C>R		No	ClinGen gnomAD
rs764935060 CA7473389	46	C>Y		No	ClinGen ExAC gnomAD
CA268745607 rs1025124478	47	G>E		No	ClinGen Ensembl
rs1214675806 CA391686718	47	G>R		No	ClinGen gnomAD
rs909987829 CA268745610	48	P>A		No	ClinGen TOPMed
rs62002535 CA268745616	48	P>L		No	ClinGen TOPMed gnomAD
CA268745612 rs62002535	48	P>Q		No	ClinGen TOPMed gnomAD
CA268748030 rs953272383	49	V>A		No	ClinGen Ensembl
CA391688987 rs1219351279	55	I>S		No	ClinGen TOPMed
CA391689015 rs1447503510	56	N>S		No	ClinGen gnomAD
CA391689031 rs1208098147	57	L>V		No	ClinGen gnomAD
CA7473408 rs772493262	58	V>L		No	ClinGen ExAC gnomAD
TCGA novel	59	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776089345 CA7473409	60	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	61	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391689133 rs1394736889	61	P>T		No	ClinGen gnomAD
CA391689152 rs1222261277	62	Q>R		No	ClinGen gnomAD
TCGA novel	65	T>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7473412 rs185391892	66	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1336574916 CA391689352	68	E>A		No	ClinGen TOPMed
CA391689367 rs1412336677	69	V>I		No	ClinGen TOPMed
CA391689384 rs1401095591	70	Y>N		No	ClinGen TOPMed
CA7473414 rs200098679	73	V>A		No	ClinGen ExAC TOPMed gnomAD
CA7473417 rs759115064	74	D>H		No	ClinGen ExAC TOPMed gnomAD
rs759115064 CA7473416	74	D>N		No	ClinGen ExAC TOPMed gnomAD
CA391689571 rs1330165983	76	R>K		No	ClinGen gnomAD
CA391689740 rs1238918218	81	P>R		No	ClinGen TOPMed
CA268748068 rs532386814	82	T>N		No	ClinGen Ensembl
rs777611369 CA7473421	83	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1180490615 CA391690798	88	P>S		No	ClinGen gnomAD
rs928627546 CA268750837	89	E>K		No	ClinGen gnomAD
rs780342761 CA7473459	91	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA7473461 rs755585494	94	N>S		No	ClinGen ExAC
CA7473462 rs781772999	95	A>V		No	ClinGen ExAC gnomAD
rs748410092 CA7473463	96	K>E		No	ClinGen ExAC gnomAD
CA7473464 rs770205298	97	G>D		No	ClinGen ExAC TOPMed gnomAD
rs770205298 CA268750893	97	G>V		No	ClinGen ExAC TOPMed gnomAD
rs773805280 CA7473465	98	L>V		No	ClinGen ExAC gnomAD
rs1428800077 CA391691022	101	E>G		No	ClinGen gnomAD
rs745596630 CA7473467	102	S>R		No	ClinGen ExAC gnomAD
CA7473468 rs771557258	103	V>G		No	ClinGen ExAC gnomAD
CA7473469 rs775029500	104	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7473470 rs760573764	108	S>P		No	ClinGen ExAC gnomAD
rs1338736777 CA391691175	109	R>C		No	ClinGen gnomAD
CA7473471 rs763977239	109	R>H		No	ClinGen ExAC TOPMed gnomAD
CA391691280 rs1480797614	113	L>R		No	ClinGen TOPMed
CA7473473 rs761449842	115	K>R		No	ClinGen ExAC gnomAD
rs765147009 CA7473474	117	H>L		No	ClinGen ExAC gnomAD
rs1282880099 CA391691401	118	C>R		No	ClinGen gnomAD
CA391692759 rs1264980650	121	V>E		No	ClinGen gnomAD
CA391692784 rs1185183399	122	M>I		No	ClinGen TOPMed
CA391692771 rs1420681560	122	M>V		No	ClinGen gnomAD
CA7473494 rs762690182	123	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7473495 rs766662057	126	L>V		No	ClinGen ExAC gnomAD
CA391692859 rs1455653095	127	A>S		No	ClinGen TOPMed gnomAD
CA7473496 rs199764471	129	H>N		No	ClinGen ExAC TOPMed gnomAD
CA7473498 COSM699982 rs767768823	130	V>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA391692941 rs1326345689	131	Q>H		No	ClinGen TOPMed
rs1566982428 CA391692953	132	S>L		No	ClinGen Ensembl
rs756692952 CA391693018	135	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1595543638 CA391692994	135	S>R		No	ClinGen Ensembl
TCGA novel	136	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7473501 rs777968114	136	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7473502 rs35509999 VAR_040479	137	H>R		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs35509999 VAR_040479	137	H>R		No	UniProt dbSNP
rs757639432 CA391693117	139	K>N		No	ClinGen ExAC TOPMed gnomAD
CA268754328 rs868731116	142	P>S		No	ClinGen Ensembl
TCGA novel	145	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372182811 CA7473505	146	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7473507 rs780805273	149	M>T		No	ClinGen ExAC gnomAD
CA391693360 rs1481452488	151	E>G		No	ClinGen gnomAD
rs1426344747 CA391693348	151	E>Q		No	ClinGen gnomAD
CA391693411 rs748007652	153	R>P		No	ClinGen ExAC TOPMed gnomAD
rs748007652 CA7473508	153	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1205629925 CA391693405	153	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA391693506 rs1479664573	157	E>A		No	ClinGen gnomAD
CA7473509 rs769735206	158	Q>H		No	ClinGen ExAC gnomAD
rs773048463 CA7473510	159	Q>*		No	ClinGen ExAC gnomAD
CA7473512 rs770851574	162	L>V		No	ClinGen ExAC gnomAD
CA7473513 rs774708180	162	L>W		No	ClinGen ExAC gnomAD
CA391693662 rs1595543679	163	E>G		No	ClinGen Ensembl
rs759890512 CA7473514	163	E>K		No	ClinGen ExAC gnomAD
CA391693713 rs1595543683	164	A>G		No	ClinGen Ensembl
rs375580220 CA7473515	165	K>E		No	ClinGen ESP ExAC gnomAD
CA391693723 rs1242248600	165	K>R		No	ClinGen TOPMed
rs201341737 CA7473517	166	R>Q		No	ClinGen ExAC TOPMed gnomAD
VAR_040480 rs34439704 CA7473516	166	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_040480 rs34439704	166	R>W		No	UniProt dbSNP
rs1595543703 CA391693766	167	K>E		No	ClinGen Ensembl
rs891040948 CA268754382	167	K>N		No	ClinGen Ensembl
rs1566982489 CA391693856	170	Q>R		No	ClinGen Ensembl
CA7473533 rs181799121	173	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7473534 rs374646929	173	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs200469695 CA7473535	177	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1328295586 CA391675061	178	E>Q		No	ClinGen TOPMed
rs369177363 CA7473536	178	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1366792546 CA391675081	181	R>G		No	ClinGen gnomAD
rs186768938 CA7473538	182	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762356933 CA7473541	185	E>G		No	ClinGen ExAC gnomAD
CA7473543 rs765557013	186	I>K		No	ClinGen ExAC
CA7473544 rs191064744	186	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767142010 CA7473546	189	E>D		No	ClinGen ExAC gnomAD
CA391675143 rs1207982996	189	E>G		No	ClinGen gnomAD
rs1465415942 CA391675159	191	K>N		No	ClinGen gnomAD
rs752299551 CA7473547	192	R>K		No	ClinGen ExAC gnomAD
rs1173516192 CA391675208	198	Q>*		No	ClinGen gnomAD
rs766718031 CA391675597	200	R>C		No	ClinGen ExAC TOPMed gnomAD
rs563342241 CA7473569	200	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7473568 rs766718031	200	R>S		No	ClinGen ExAC TOPMed gnomAD
rs755767819 CA7473571	201	L>F		No	ClinGen ExAC TOPMed gnomAD
CA391675616 rs1477007327	203	I>V		No	ClinGen TOPMed
rs756849463 CA7473573	204	A>V		No	ClinGen ExAC gnomAD
rs778934283 CA7473574	205	S>G		No	ClinGen ExAC gnomAD
CA7473575 rs369548103	205	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1484058258 CA391675637	206	L>F		No	ClinGen TOPMed
rs777058569 CA7473577	209	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA7473576 rs758200912	209	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA391675659 rs1358627094	210	D>N		No	ClinGen gnomAD
rs201155197 CA391675673	211	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA391675675 rs1595546604	212	T>P		No	ClinGen Ensembl
CA268721767 rs192086237	213	S>P		No	ClinGen 1000Genomes
CA268721773 rs913571093	214	K>E		No	ClinGen TOPMed gnomAD
rs776863873 CA7473580	214	K>R		No	ClinGen ExAC gnomAD
CA7473581 rs748172436	215	K>E		No	ClinGen ExAC gnomAD
CA391675694 rs1253070722	215	K>T		No	ClinGen gnomAD
CA391675702 rs1595546617	216	D>A		No	ClinGen Ensembl
rs200433010 CA7473583	217	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs200433010 CA7473582	217	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs377555422 CA268721833	218	G>A		No	ClinGen ESP TOPMed gnomAD
CA268721825 rs377555422	218	G>E		No	ClinGen ESP TOPMed gnomAD
CA7473586 rs774615546	219	G>A		No	ClinGen ExAC gnomAD
CA7473585 rs771302837	219	G>R		No	ClinGen ExAC gnomAD
CA7473587 rs759973459	221	R>G		No	ClinGen ExAC gnomAD
rs763789806 CA7473588	222	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1595546634 CA391675733	222	T>P		No	ClinGen Ensembl
CA7473590 RCV000757208 rs199807868	223	A>G		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA391675738 rs1309622470	223	A>P		No	ClinGen gnomAD
rs1409116092 CA391675747	224	A>G		No	ClinGen gnomAD
rs1595546648 CA391675749	225	I>L		No	ClinGen Ensembl
rs1160588634 CA391675753	225	I>T		No	ClinGen gnomAD
rs184797513 CA7473591	226	L>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1342305044 CA391675771	228	G>E		No	ClinGen gnomAD
rs903787879 CA268721862	229	G>R		No	ClinGen TOPMed
rs758310581 CA7473593	230	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1354501134 CA391675791	232	D>H		No	ClinGen TOPMed gnomAD
rs1354501134 CA391675790	232	D>N		No	ClinGen TOPMed gnomAD
CA7473594 rs780072652	236	N>D		No	ClinGen ExAC gnomAD
CA268721875 rs1037570316	237	G>S		No	ClinGen TOPMed gnomAD
rs751264257 CA7473595	238	K>R		No	ClinGen ExAC gnomAD
CA391675846 rs781328957	239	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs754785318 CA7473596	239	H>R		No	ClinGen ExAC TOPMed gnomAD
rs375306216 CA7473599	240	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370491259 CA7473598	240	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1047058357 CA268721884	241	A>S		No	ClinGen TOPMed
rs777876710 CA7473600	243	S>A		No	ClinGen ExAC gnomAD
rs771300276 CA7473602	244	S>L		No	ClinGen ExAC gnomAD
CA391675888 rs1317257382	247	S>P		No	ClinGen TOPMed
CA7473621 rs199737920	249	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA391676526 rs1306166946	250	E>Q		No	ClinGen TOPMed
CA7473622 COSM961067 rs200534017	251	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs368341001 CA7473623	251	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1233104428 CA391676560	255	V>I		No	ClinGen TOPMed gnomAD
CA391676561 rs1233104428	255	V>L		No	ClinGen TOPMed gnomAD
rs1233104428 CA391676562	255	V>L		No	ClinGen TOPMed gnomAD
rs571929158 CA7473626	256	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7473627 rs762306225	257	N>I		No	ClinGen ExAC TOPMed gnomAD
CA391676580 rs1299853999	258	S>R		No	ClinGen TOPMed
CA268727028 rs774146652	266	E>A		No	ClinGen ExAC gnomAD
CA7473629 rs774146652	266	E>G		No	ClinGen ExAC gnomAD
TCGA novel	268	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440598853 CA391676659	269	Y>C		No	ClinGen gnomAD
CA391676672 rs1566986910	271	N>D		No	ClinGen Ensembl
CA7473631 rs759523144	271	N>S		No	ClinGen ExAC TOPMed gnomAD
CA391676684 rs1427128079	272	M>I		No	ClinGen gnomAD
rs1462106203 CA391676710	276	D>G		No	ClinGen TOPMed
CA391676716 rs1388053901	277	Q>E		No	ClinGen gnomAD
rs1043663036 CA268727042	277	Q>H		No	ClinGen TOPMed gnomAD
rs376181147 CA7473633	278	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA391676729 rs1566986937	279	M>L		No	ClinGen Ensembl
rs866031304 CA268727052	280	V>M		No	ClinGen Ensembl
rs755922801 CA7473634	282	K>R		No	ClinGen ExAC gnomAD
rs754092670 CA7473636	285	C>R		No	ClinGen ExAC gnomAD
rs192256972 CA7473637	286	I>V		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA7473662 rs748865720	287	G>D		No	ClinGen ExAC TOPMed gnomAD
rs190244504 CA7473663	288	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7473664 rs778556515	291	Q>K		No	ClinGen ExAC gnomAD
rs771573728 CA7473666	295	L>V		No	ClinGen ExAC gnomAD
rs1161927437 CA391677484	296	V>F		No	ClinGen gnomAD
CA391677505 rs1030308387	298	N>D		No	ClinGen TOPMed
rs1030308387 CA268729939	298	N>H		No	ClinGen TOPMed
rs954894190 CA268729944	298	N>S		No	ClinGen TOPMed gnomAD
rs75675188 CA7473669	302	T>P		No	ClinGen ExAC gnomAD
CA391677563 rs1450896849	303	A>G		No	ClinGen TOPMed gnomAD
rs1479754027 CA391677569	304	T>S		No	ClinGen TOPMed
rs1243348671 CA391677581	305	G>D		No	ClinGen gnomAD
CA391677602 rs1304044638	307	F>C		No	ClinGen gnomAD
CA268729986 rs762607194	311	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1379321721 CA391677642	311	Y>H		No	ClinGen TOPMed gnomAD
rs776448021 CA7473670	314	V>I		No	ClinGen ExAC TOPMed gnomAD
rs370228377 CA7473671	315	L>V		No	ClinGen ESP ExAC gnomAD
CA268729993 rs910661865	317	W>*		No	ClinGen Ensembl
rs1343962115 CA391677733	319	K>E		No	ClinGen gnomAD
CA7473673 rs374490520	319	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1204193944 CA391677765	321	M>T		No	ClinGen TOPMed
TCGA novel	321	M>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1323575344 CA391677773	322	G>S		No	ClinGen TOPMed
CA391677781 rs1273719305	322	G>V		No	ClinGen gnomAD
rs1221590907 CA391677807	325	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1566988293 CA391677822	326	T>I		No	ClinGen Ensembl
CA7473675 rs766627068	327	S>G		No	ClinGen ExAC
rs973564116 CA391677838	328	Q>*		No	ClinGen TOPMed gnomAD
rs973564116 CA268730042	328	Q>K		No	ClinGen TOPMed gnomAD
CA7473676 rs752094480	328	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1432706723 CA391677854	329	E>G		No	ClinGen TOPMed
rs755553214 CA7473677	331	E>G		No	ClinGen ExAC gnomAD
CA7473678 rs781576795	334	D>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	334	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391677946 rs1434686198	337	K>E		No	ClinGen TOPMed
rs1250149293 CA391677964	338	K>T		No	ClinGen gnomAD
rs1595552094 CA391678010	340	I>F		No	ClinGen Ensembl
CA268730962 rs763319411	341	Q>*		No	ClinGen ExAC gnomAD
CA7473702 rs763319411	341	Q>E		No	ClinGen ExAC gnomAD
rs1457424396 CA391678025	342	G>R		No	ClinGen TOPMed gnomAD
CA7473705 rs759553303	347	F>L		No	ClinGen ExAC gnomAD
CA7473704 rs751653522	347	F>L		No	ClinGen ExAC gnomAD
rs768006890 CA7473706	348	N>S		No	ClinGen ExAC gnomAD
rs574222262 CA268730994	354	S>N		No	ClinGen gnomAD
rs369642562 CA7473708	354	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7473709 rs373601023	356	P>L		No	ClinGen ESP ExAC gnomAD
rs917035224 CA268731012	358	V>I		No	ClinGen TOPMed gnomAD
CA391678138 rs1327783137	359	V>A		No	ClinGen TOPMed
CA391678142 rs1421116963	360	R>H		No	ClinGen Ensembl
CA391678149 rs1268707515	361	Y>C		No	ClinGen gnomAD
CA7473713 rs746471308	364	M>I		No	ClinGen ExAC gnomAD
CA7473712 rs779703872	364	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1413471039 CA391678181	366	L>V		No	ClinGen gnomAD
rs370147720 CA7473715	369	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA268731039 rs370147720	369	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA7473716 rs748096229	370	D>E		No	ClinGen ExAC TOPMed gnomAD
CA7473718 rs773184979	371	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1595552142 CA391678225	372	S>F		No	ClinGen Ensembl
CA7473720 rs774037749	374	V>E		No	ClinGen ExAC TOPMed gnomAD
CA391678242 rs1402970558	375	V>M		No	ClinGen TOPMed gnomAD
CA7473723 rs767557391	377	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	380	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391678289 rs1422829906	382	I>V		No	ClinGen TOPMed
CA391678299 rs1200844189	383	S>N		No	ClinGen TOPMed gnomAD
rs987255125 CA268731061	383	S>R		No	ClinGen Ensembl
TCGA novel	388	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA268731068 rs941299276	390	H>Y		No	ClinGen TOPMed gnomAD
rs868642608 CA268731069	393	H>Y		No	ClinGen Ensembl
CA391679149 rs1463613206	394	S>L		No	ClinGen TOPMed
rs764410833 CA7473727	397	I>M		No	ClinGen ExAC gnomAD
rs761217927 CA268731074	397	I>N		No	ClinGen ExAC TOPMed gnomAD
CA7473726 rs761217927	397	I>T		No	ClinGen ExAC TOPMed gnomAD
CA7473728 rs754161422	400	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs201637571 CA268731092	401	Q>H		No	ClinGen 1000Genomes gnomAD
CA7473729 rs757631374	403	R>C		No	ClinGen ExAC TOPMed gnomAD
rs765950157 CA7473730	403	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7473731 rs751239303	410	L>P		No	ClinGen ExAC gnomAD
rs1038717202 CA268731103	411	S>L		No	ClinGen TOPMed gnomAD
CA391679369 rs1384334180	413	L>F		No	ClinGen gnomAD
CA7473733 rs376945976	414	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs748090367 CA7473734	415	Y>C		No	ClinGen ExAC gnomAD
rs1371078264 CA391679409	416	L>P		No	ClinGen gnomAD
CA268731112 rs759190809	417	H>D		No	ClinGen Ensembl
rs1357182424 CA391679428	418	S>G		No	ClinGen TOPMed
CA391679441 rs1390821891	419	N>H		No	ClinGen gnomAD
rs370892103 CA7473736	419	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370892103 CA7473735	419	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7473737 rs749029841	420	S>F		No	ClinGen ExAC TOPMed gnomAD
CA7473739 rs200900376	422	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1357666447 CA391679480	422	V>M		No	ClinGen gnomAD
rs200035821 CA7473740	423	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs772167735 CA7473741	424	K>E		No	ClinGen ExAC gnomAD
CA391679500 rs1447688191	424	K>R		No	ClinGen TOPMed
CA7473744 rs764527615	429	S>C		No	ClinGen ExAC gnomAD
CA391679531 rs764527615	429	S>F		No	ClinGen ExAC gnomAD
CA7473743 rs760774483	429	S>P		No	ClinGen ExAC gnomAD
CA268731179 rs920552411	430	N>H		No	ClinGen Ensembl
CA391679538 rs1484546562	430	N>T		No	ClinGen TOPMed
CA7473745 rs200906585	431	V>I		No	ClinGen ExAC TOPMed gnomAD
rs930628553 CA268731183	434	D>G		No	ClinGen TOPMed
CA7473746 rs762162689	436	E>D		No	ClinGen ExAC gnomAD
CA391679582 rs1461401644	437	G>D		No	ClinGen gnomAD
rs1373476284 CA391679579	437	G>S		No	ClinGen gnomAD
rs370828624 CA391679588	438	T>N		No	ClinGen ESP ExAC gnomAD
CA7473748 rs370828624	438	T>S		No	ClinGen ESP ExAC gnomAD
rs1380848887 CA391679592	439	V>A		No	ClinGen gnomAD
CA7473750 rs767233841	439	V>F		No	ClinGen ExAC TOPMed gnomAD
rs767233841 CA268731216	439	V>I		No	ClinGen ExAC TOPMed gnomAD
rs2291627 VAR_040481	441	I>L		No	UniProt dbSNP
rs2291627 CA391679602	441	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7473753 rs202241343	442	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1281833996 CA391679616	443	D>A		No	ClinGen gnomAD
CA391679625 rs1203740787	444	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7473756 rs778620468	444	Y>H		No	ClinGen ExAC gnomAD
rs1566988879 CA391679640	446	I>T		No	ClinGen Ensembl
rs541510781 CA7473758	448	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA7473759 rs371395483	449	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7473760 rs371395483	449	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7473761 rs768791515	449	R>H		No	ClinGen ExAC gnomAD
CA7473763 rs762358873	451	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1022535505 CA268731299	458	V>A		No	ClinGen Ensembl
rs1458970443 CA391679726	459	F>S		No	ClinGen TOPMed gnomAD
CA7473766 COSM160668 rs763402151	460	E>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1165649525 CA391679738	461	Q>E		No	ClinGen TOPMed
rs1384613548 CA391679750	462	T>I		No	ClinGen gnomAD
CA391679751 rs587777107	463	R>G		No	ClinGen ExAC gnomAD
CA391679752 rs1303944472	463	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM187106 CA7473767 rs752398827	465	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs968317073 CA268731325	465	R>H		No	ClinGen TOPMed gnomAD
rs763752672 CA7473769	468	D>N		No	ClinGen ExAC gnomAD
CA268731344 rs999792095	469	N>D		No	ClinGen Ensembl
CA7473770 rs375720910	469	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs778939833 CA7473772	474	K>E		No	ClinGen ExAC gnomAD
rs1265035009 CA391679912	475	T>A		No	ClinGen gnomAD
CA7473773 COSM1640218 rs750136639	475	T>M	Variant assessed as Somatic; 0.0 impact. stomach breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs539530164 CA268731356	478	K>Q		No	ClinGen 1000Genomes
CA391679972 rs1176347295	478	K>R		No	ClinGen gnomAD
TCGA novel	479	G>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	479	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391680034 rs1160027462	481	V>I		No	ClinGen gnomAD
CA391680053 rs1363422590	482	W>*		No	ClinGen TOPMed gnomAD
rs1378938398 CA7473777	483	R>C		No	ClinGen TOPMed gnomAD
COSM1205106 rs367726606 CA7473779	483	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs748262253 CA7473781	485	G>C		No	ClinGen ExAC gnomAD
TCGA novel	486	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7473783 RCV000947611 rs73388508	492	S>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1595552424 CA391680261	495	Q>R		No	ClinGen Ensembl
rs763156899 CA7473784	497	C>Y		No	ClinGen ExAC gnomAD
CA7473785 rs771390626	501	P>L		No	ClinGen ExAC TOPMed gnomAD
rs775264883 CA7473786	505	P>S		No	ClinGen ExAC gnomAD
CA7473787 rs760450351	506	S>N		No	ClinGen ExAC gnomAD
CA391680511 rs1359920886	509	P>S		No	ClinGen gnomAD
CA391680531 rs1360583083	510	A>G		No	ClinGen gnomAD
CA391680521 rs1221562690	510	A>S		No	ClinGen gnomAD
CA7473788 rs200393344	513	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA391680596 rs1484026931	513	Q>H		No	ClinGen gnomAD
rs369500682 CA7473789	515	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1566988981 CA391680652	517	K>E		No	ClinGen Ensembl
CA7473791 rs761408250	518	K>E		No	ClinGen ExAC TOPMed
CA391680683 rs1167206677	518	K>R		No	ClinGen gnomAD
CA7473806 rs774898415	519	C>Y		No	ClinGen ExAC gnomAD
rs370195128 CA7473807	520	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7473808 rs201521227	521	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1312617963 CA391681771	521	C>Y		No	ClinGen gnomAD
rs1555417104 RCV000521888	526	E>missing		No	ClinVar dbSNP
CA7473810 rs761224926	526	E>Q		No	ClinGen ExAC gnomAD
CA7473811 rs764860065	527	R>K		No	ClinGen ExAC gnomAD
rs1245964224 CA391681913	528	W>C		No	ClinGen TOPMed
CA391681899 rs1566990453	528	W>R		No	ClinGen Ensembl
CA7473813 rs762986387	531	Q>R		No	ClinGen ExAC gnomAD
rs766332925 CA268734787	532	Q>E		No	ClinGen ExAC gnomAD
CA7473814 rs766332925	532	Q>K		No	ClinGen ExAC gnomAD
CA7473815 rs751303851	533	L>S		No	ClinGen ExAC gnomAD
rs1333864225 CA391682094	538	F>V		No	ClinGen Ensembl
TCGA novel	539	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391682119 rs1186387010	539	I>M		No	ClinGen TOPMed gnomAD
CA391682153 rs1417975137	542	Q>*		No	ClinGen gnomAD
TCGA novel	542	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	545	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7473816 rs373344202	546	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs767655859 CA7473817	553	E>G		No	ClinGen ExAC gnomAD
CA391682415 rs2307105	556	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391682417 rs2307105	556	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA268735279 rs575833717	557	G>V		No	ClinGen 1000Genomes
CA7473841 rs751029362	559	D>H		No	ClinGen ExAC gnomAD
CA391682478 rs1223790553	560	Y>C		No	ClinGen gnomAD
rs1362082100 CA391682476	560	Y>D		No	ClinGen gnomAD
CA7473842 rs758812636	561	V>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	564	V>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs968470641 CA268735287	565	I>F		No	ClinGen TOPMed
CA391682549 rs1243764781	566	P>A		No	ClinGen TOPMed
CA391682555 rs1234155667	566	P>L		No	ClinGen gnomAD
CA268735314 rs575096236	568	N>S		No	ClinGen Ensembl
rs192337360 CA391682579	569	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs192337360 CA7473847	569	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs367620475 CA7473846	569	R>W		No	ClinGen ESP ExAC gnomAD
CA391682581 rs1405432915	570	L>V		No	ClinGen gnomAD
CA7473848 rs377210121	577	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1444155957 CA391682629	577	S>N		No	ClinGen TOPMed
CA391682671 rs1164037485	581	R>G		No	ClinGen TOPMed gnomAD
CA7473849 rs770490517	582	Q>*		No	ClinGen ExAC gnomAD
rs550405517 CA268735348	582	Q>P		No	ClinGen Ensembl
CA7473851 rs368630393	585	R>*		No	ClinGen ESP ExAC
CA391682751 rs1226609590	586	Y>*		No	ClinGen TOPMed gnomAD
CA391682768 rs1336455357	587	F>L		No	ClinGen gnomAD
rs780063379 CA268735363	589	E>G		No	ClinGen Ensembl
CA391682789 rs1305044831	589	E>K		No	ClinGen TOPMed
rs775317062 CA7473852	592	E>G		No	ClinGen ExAC TOPMed gnomAD
CA391682875 rs760411800	594	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1385365243 CA391682885	595	L>F		No	ClinGen gnomAD
TCGA novel	602	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1595403861 CA391683629	611	L>W		No	ClinGen Ensembl
rs1595403863 CA391683650	612	D>A		No	ClinGen Ensembl
rs752068572 CA7473878	613	G>S		No	ClinGen ExAC gnomAD
CA7473879 rs755352156	616	Y>*		No	ClinGen ExAC gnomAD
CA391683719 rs1424937924	617	A>G		No	ClinGen gnomAD
CA7473880 rs767825116	618	V>M		No	ClinGen ExAC gnomAD
rs1275701846 CA391683771	620	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA391683774 rs1325109503	620	R>H		No	ClinGen gnomAD
rs1595403886 CA391683829	624	N>T		No	ClinGen Ensembl
rs1199183898 CA391683850	625	P>R		No	ClinGen TOPMed
CA391683873 rs1223676952	627	S>G		No	ClinGen gnomAD
CA7473882 rs756866559	632	R>T		No	ClinGen ExAC TOPMed gnomAD
CA7473883 rs778560836	635	G>S		No	ClinGen ExAC gnomAD
TCGA novel	637	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391684128 rs1595403919	642	R>Q		No	ClinGen Ensembl
rs1448112663 CA391684158	644	H>Q		No	ClinGen TOPMed
rs746977318 CA7473887	648	I>T		No	ClinGen ExAC TOPMed gnomAD
CA7473886 rs780037863	648	I>V		No	ClinGen ExAC gnomAD
rs976536908 CA268736907	650	R>H		No	ClinGen TOPMed
rs976536908 CA391684261	650	R>L		No	ClinGen TOPMed
rs1170233773 CA391684299	652	Y>*		No	ClinGen TOPMed
CA391684292 rs1384725146	652	Y>C		No	ClinGen gnomAD
CA391684337 rs1388546790	654	A>V		No	ClinGen TOPMed
rs1405015521 CA391684455	660	E>K		No	ClinGen gnomAD
rs770082929 CA391684470	661	R>G		No	ClinGen ExAC TOPMed gnomAD
rs866960579 CA268736941	661	R>Q		No	ClinGen Ensembl
rs770082929 CA7473893	661	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7473894 rs773569725	662	P>L		No	ClinGen ExAC TOPMed gnomAD
rs892470842 CA268736950	663	A>S		No	ClinGen Ensembl
rs763080677 CA7473895	663	A>V		No	ClinGen ExAC gnomAD
CA391684496 rs1214282542	664	G>R		No	ClinGen gnomAD
rs1041149078 CA268736979	666	G>R		No	ClinGen TOPMed gnomAD
CA7473897 rs774895414	667	T>A		No	ClinGen ExAC TOPMed gnomAD
CA391684532 rs760005119	667	T>M		No	ClinGen ExAC gnomAD
CA7473898 rs760005119	667	T>R		No	ClinGen ExAC gnomAD
CA391684545 rs1595404027	668	P>L		No	ClinGen Ensembl
rs756487106 CA7473901	669	P>R		No	ClinGen ExAC gnomAD
rs1418269606 CA391684548	669	P>S		No	ClinGen gnomAD
CA7473903 rs368876175	670	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA391684562 rs1281896454	670	P>S		No	ClinGen TOPMed
CA7473907 rs754820780	674	P>L		No	ClinGen ExAC TOPMed gnomAD
CA391684639 rs754820780	674	P>R		No	ClinGen ExAC TOPMed gnomAD
rs201342617 CA391684623	674	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781290949 CA7473908	677	K>R		No	ClinGen ExAC gnomAD
rs747882672 CA391684737	680	R>*		No	ClinGen ExAC TOPMed gnomAD
rs747882672 CA7473909	680	R>G		No	ClinGen ExAC TOPMed gnomAD
CA391684743 rs769775788	680	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7473910 rs769775788	680	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1481660664 CA391684762	682	A>T		No	ClinGen gnomAD
rs140593019 CA268737036	683	R>C		No	ClinGen 1000Genomes gnomAD
TCGA novel	683	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1438138444 CA391684810	684	G>R		No	ClinGen gnomAD
CA268737043 rs1015896788	686	P>L		No	ClinGen TOPMed
rs927822840 CA268737039	686	P>S		No	ClinGen TOPMed gnomAD
rs765033389 CA268737044	687	A>T		No	ClinGen TOPMed
rs749518893 CA7473912	687	A>V		No	ClinGen ExAC TOPMed gnomAD
rs774259183 CA7473914	688	S>R		No	ClinGen ExAC gnomAD
CA268737068 rs894449451	689	D>N		No	ClinGen TOPMed gnomAD
CA391684938 rs1298315955	690	T>I		No	ClinGen gnomAD
rs1444182685 CA391684954	691	D>E		No	ClinGen TOPMed gnomAD
rs759686079 CA7473915	691	D>H		No	ClinGen ExAC gnomAD
CA7473917 rs775982692	692	G>D		No	ClinGen ExAC gnomAD
rs772513114 CA7473916	692	G>R		No	ClinGen ExAC gnomAD
rs1024753694 CA268737082	694	D>E		No	ClinGen Ensembl
CA268737084 rs553357977	696	V>I		No	ClinGen 1000Genomes gnomAD
rs553357977 CA391685016	696	V>L		No	ClinGen 1000Genomes gnomAD
CA7473919 rs764501034	697	E>D		No	ClinGen ExAC TOPMed gnomAD
CA268737099 rs1013338121	698	A>D		No	ClinGen TOPMed
rs1323126749 CA391685035	698	A>T		No	ClinGen TOPMed
CA7473920 rs750068836	699	A>S		No	ClinGen ExAC gnomAD
CA391685055 rs1244088989	700	A>T		No	ClinGen gnomAD
CA391685064 rs1461152664	700	A>V		No	ClinGen TOPMed gnomAD
CA268737137 rs867502856	703	P>H		No	ClinGen gnomAD
CA391685094 rs1429668206	703	P>S		No	ClinGen gnomAD
rs750973969 CA7473923	704	I>V		No	ClinGen ExAC TOPMed
rs1463696646 CA391685151	707	S>R		No	ClinGen TOPMed gnomAD
CA391685159 rs1338300197	708	S>W		No	ClinGen TOPMed gnomAD
CA391685245 rs754519298	714	S>*		No	ClinGen ExAC TOPMed gnomAD
CA7473925 rs754519298	714	S>W		No	ClinGen ExAC TOPMed gnomAD
CA391685247 rs1363955113	715	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7473927 rs201418777	716	E>G		No	ClinGen ExAC TOPMed gnomAD
CA7473926 rs781268719	716	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA391685260 rs781268719	716	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA7473928 rs755946819	717	R>C		No	ClinGen ExAC gnomAD
rs777747546 CA7473929	717	R>H		No	ClinGen ExAC TOPMed gnomAD
rs777747546 CA391685281	717	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7473930 rs749142071	718	S>L		No	ClinGen ExAC gnomAD
rs1208417177 CA391685305	719	A>V		No	ClinGen gnomAD
CA7473932 rs779212473	720	S>N		No	ClinGen ExAC gnomAD
rs1186476651 CA391685315	720	S>R		No	ClinGen gnomAD
rs1261749585 CA391685322	721	A>T		No	ClinGen gnomAD
CA7473933 rs745871987	722	R>C		No	ClinGen ExAC gnomAD
TCGA novel	725	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1314656599 CA391685372	725	A>S		No	ClinGen gnomAD
rs1173670534 CA391685377	726	T>A		No	ClinGen gnomAD
rs1338427319 CA391685381	726	T>I		No	ClinGen TOPMed gnomAD
rs1431341594 CA391685382	727	G>S		No	ClinGen gnomAD
CA7473938 rs768979198	728	P>Q		No	ClinGen ExAC gnomAD
rs373456769 CA7473939	729	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7473940 rs762250059	729	G>V		No	ClinGen ExAC gnomAD
CA7473942 rs751290001	730	S>F		No	ClinGen ExAC gnomAD
CA7473943 RCV000943434 rs554932117	731	S>G		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1341158518 CA391685407	731	S>R		No	ClinGen gnomAD
CA268737275 rs199756192	732	D>E		No	ClinGen ExAC TOPMed
rs377284755 CA391685409	732	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7473945 rs377284755	732	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7473949 rs777880324	733	D>E		No	ClinGen ExAC gnomAD
rs756082681 CA7473948	733	D>N		No	ClinGen ExAC gnomAD
rs200699205 CA7473951	734	E>D		No	ClinGen ExAC TOPMed
rs1491003149 CA391685421	734	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA391685446 rs1566991764	737	D>Y		No	ClinGen Ensembl
CA7473954 rs201698913	738	E>D		No	ClinGen ExAC TOPMed gnomAD
CA268737346 rs370877501	739	D>N		No	ClinGen ESP TOPMed
rs1409807052 CA391685466	740	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA268737352 rs199903784	741	H>D		No	ClinGen gnomAD
rs746160842 CA7473956	741	H>Q		No	ClinGen ExAC gnomAD
CA391685486 rs1435442186	743	G>S		No	ClinGen TOPMed
rs1303782372 CA391685512	747	Q>K		No	ClinGen gnomAD
rs1462495433 CA391685578	752	A>T		No	ClinGen gnomAD
CA7473983 rs749696264	752	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7473984 rs771796205	754	D>G		No	ClinGen ExAC TOPMed
CA7473985 rs775289125	759	I>V		No	ClinGen ExAC TOPMed gnomAD
CA391685687 rs1566992309	762	D>G		No	ClinGen Ensembl
rs763719225 CA7473987	765	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1329570376 CA391685754	769	K>E		No	ClinGen gnomAD
rs776412374 CA7473988	770	S>C		No	ClinGen ExAC gnomAD
TCGA novel	771	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759761201 CA7474015	778	N>I		No	ClinGen ExAC TOPMed gnomAD
rs759761201 CA7474016	778	N>S		No	ClinGen ExAC TOPMed gnomAD
CA391687715 rs1566994890	780	K>N		No	ClinGen Ensembl
rs1286637656 CA391687729	781	N>I		No	ClinGen TOPMed gnomAD
rs1286637656 CA391687728	781	N>S		No	ClinGen TOPMed gnomAD
rs752767858 CA7474017	782	G>A		No	ClinGen ExAC gnomAD
CA391687746 rs752767858	782	G>D		No	ClinGen ExAC gnomAD
rs756155328 CA7474018	783	C>F		No	ClinGen ExAC gnomAD
rs1271207118 CA391687775	783	C>W		No	ClinGen TOPMed gnomAD
CA391687792 rs1463350933	784	H>R		No	ClinGen TOPMed
CA391687823 rs1433941895	785	E>G		No	ClinGen gnomAD
rs778425049 CA7474019	788	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1046690290 CA268749481	790	V>A		No	ClinGen TOPMed
CA7474020 rs373835064	790	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA268749476 rs373835064	790	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373835064 CA268749469	790	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs757674757 CA7474021	791	T>A		No	ClinGen ExAC gnomAD
rs570311740 CA7474022	791	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA7474023 rs539286891	792	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1366932633 CA391687965	794	A>T		No	ClinGen TOPMed gnomAD
rs780711125 CA7474025	795	V>M		No	ClinGen ExAC TOPMed gnomAD
rs556364536 CA7474027	797	Y>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs556364536 CA7474026	797	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA268751319 rs377547643	804	Y>N		No	ClinGen ESP TOPMed
CA391688798 rs1481712280	808	S>T		No	ClinGen gnomAD
CA391688861 rs1199542196	811	R>*		No	ClinGen gnomAD
rs199883796 CA7474044	814	I>L		No	ClinGen 1000Genomes ExAC gnomAD
CA7474043 rs199883796	814	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs370476691 CA7474045	816	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM699978 rs748816386 CA7474046	817	G>E	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1566995608 CA391689037	818	L>P		No	ClinGen Ensembl
CA7474048 rs774163084	820	R>G		No	ClinGen ExAC gnomAD
rs771823811 CA268751366	820	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7474050 rs771823811	820	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	821	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201606949 CA7474051	822	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	823	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7474053 rs375292990	823	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs377342428 CA268751388	823	V>G		No	ClinGen ESP TOPMed gnomAD
CA7474054 rs375292990	823	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs761998319 CA7474055	827	R>S		No	ClinGen ExAC gnomAD
CA391689256 rs1379790900	828	L>R		No	ClinGen gnomAD
CA268751395 rs370269120	830	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
rs765833659 CA7474056	830	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs375456378 CA7474057	831	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1205960131 CA391689536	838	Y>C		No	ClinGen gnomAD
CA268751437 rs773906742	839	I>T		No	ClinGen gnomAD
rs751981515 CA7474061	840	H>R		No	ClinGen ExAC gnomAD
rs1442692421 CA391689626	841	E>*		No	ClinGen gnomAD
rs776343541 CA268752999	843	G>E		No	ClinGen Ensembl
CA391690174 rs1476598559	847	R>Q		No	ClinGen TOPMed gnomAD
CA7474072 rs367727235	847	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7474073 rs768944097	848	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7474074 rs776999481	851	P>A		No	ClinGen ExAC gnomAD
CA391690289 rs1432363256	851	P>R		No	ClinGen TOPMed gnomAD
rs1173741066 CA391690326	853	N>S		No	ClinGen gnomAD
rs35250897	856	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs35250897	856	L>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA391690449 rs201184165	859	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs201184165 CA7474075	859	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs773738278 CA7474077	860	D>A		No	ClinGen ExAC gnomAD
CA7474076 rs374149288	860	D>Y		No	ClinGen ESP ExAC TOPMed
rs763329090 CA7474078	861	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1438821854 CA391690506	862	V>G		No	ClinGen TOPMed gnomAD
rs1195220549 CA391690542	865	G>S		No	ClinGen TOPMed
rs1275643312 CA391690554	866	D>N		No	ClinGen gnomAD
rs1217833277 CA391690620	870	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
VAR_040482 CA268753080 rs34665481	872	D>V		No	ClinGen UniProt Ensembl dbSNP
VAR_040482 rs34665481	872	D>V		No	UniProt dbSNP
CA7474081 rs759895388	873	H>N		No	ClinGen ExAC TOPMed gnomAD
rs759895388 CA391690655	873	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA391690686 rs1284636609	874	L>P		No	ClinGen gnomAD
rs1595413226 CA391690691	875	A>P		No	ClinGen Ensembl
rs1293724798 CA391690722	877	S>F		No	ClinGen TOPMed
rs1444801970 CA391690719	877	S>P		No	ClinGen gnomAD
rs764964709 CA7474103	878	A>T		No	ClinGen ExAC gnomAD
rs1292057553 CA391690855	880	S>G		No	ClinGen TOPMed
CA268754379 rs866114974	882	Q>*		No	ClinGen Ensembl
CA7474104 rs749846899	883	D>G		No	ClinGen ExAC TOPMed
CA268754380 rs1009139328	883	D>N		No	ClinGen TOPMed gnomAD
CA391690927 rs1473771569	884	D>G		No	ClinGen gnomAD
CA7474106 rs201095191	884	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391690960 rs1163856124	886	T>I		No	ClinGen gnomAD
CA268754439 rs752989825	888	D>E		No	ClinGen ExAC gnomAD
CA391690989 rs1173123532	889	L>F		No	ClinGen gnomAD
rs781092853 CA7474109	892	S>*		No	ClinGen ExAC TOPMed gnomAD
rs781092853 CA268754453	892	S>L		No	ClinGen ExAC TOPMed gnomAD
CA391691018 rs1401362469	892	S>T		No	ClinGen gnomAD
rs747979128 CA7474110	893	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1329813423 CA391691034	893	D>Y		No	ClinGen gnomAD
CA391691053 rs1471793806	894	P>A		No	ClinGen TOPMed gnomAD
rs769846052 CA7474111	894	P>L		No	ClinGen ExAC gnomAD
CA391691081 rs1162546738	896	G>S		No	ClinGen TOPMed gnomAD
rs754914951 CA7474125	896	G>V		No	ClinGen ExAC gnomAD
CA391691249 rs1158163173	902	V>I		No	ClinGen TOPMed
CA391691273 rs1399184789	903	G>D		No	ClinGen TOPMed gnomAD
CA391691307 rs1379146858	905	A>V		No	ClinGen TOPMed
rs376583771 CA7474128	907	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs199719655 CA7474127	907	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391691347 rs1412384144	908	V>I		No	ClinGen gnomAD
CA391691422 rs1340687531	912	V>D		No	ClinGen gnomAD
rs777842520 CA7474129	912	V>F		No	ClinGen ExAC gnomAD
CA7474131 rs757256410	914	G>R		No	ClinGen ExAC gnomAD
CA391691478 rs1466652713	917	K>Q		No	ClinGen TOPMed
rs778926793 CA7474132	917	K>R		No	ClinGen ExAC gnomAD
rs778926793 CA391691482	917	K>T		No	ClinGen ExAC gnomAD
rs1566998664 CA391691887	923	K>E		No	ClinGen Ensembl
rs1458419800 CA391691909	926	L>V		No	ClinGen gnomAD
CA391691934 rs1286681614	929	L>R		No	ClinGen gnomAD
rs1387004302 CA391691960	933	F>C		No	ClinGen gnomAD
CA7474152 rs780527946	938	Y>C		No	ClinGen ExAC gnomAD
VAR_040483	939	H>Y	a lung neuroendocrine carcinoma sample; somatic mutation [UniProt]	No	UniProt
CA391692010 rs1441867299	940	P>A		No	ClinGen gnomAD
rs896866864 CA268758149	941	M>T		No	ClinGen TOPMed
rs769072615 CA7474154	941	M>V		No	ClinGen ExAC gnomAD
rs777004232 CA7474155	943	T>M		No	ClinGen ExAC gnomAD
rs1267321250 CA391692077	950	V>F		No	ClinGen TOPMed gnomAD
CA391692076 rs1267321250	950	V>L		No	ClinGen TOPMed gnomAD
CA7474159 rs759101551	953	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA7474160 rs771755030	953	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1381709626 CA391692117	956	D>G		No	ClinGen TOPMed
rs201824903 CA7474180	959	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391692245 rs1304491523	963	P>L		No	ClinGen gnomAD
TCGA novel	964	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761585846 CA7474185	968	D>G		No	ClinGen ExAC gnomAD
CA7474183 rs768571345	968	D>N		No	ClinGen ExAC TOPMed gnomAD
rs761585846 CA391692314	968	D>V		No	ClinGen ExAC gnomAD
rs768571345 CA7474184	968	D>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	969	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7474186 rs765068272	969	G>R		No	ClinGen ExAC gnomAD
rs545347096 CA268759398	971	H>P		No	ClinGen 1000Genomes TOPMed gnomAD
rs545347096 CA268759403	971	H>R		No	ClinGen 1000Genomes TOPMed gnomAD
rs1306148481 CA391692358	972	A>T		No	ClinGen gnomAD
CA391692367 rs1595419350	972	A>V		No	ClinGen Ensembl
TCGA novel	973	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA268759421 rs12899769	973	K>Q		No	ClinGen Ensembl
CA7474201 rs768111937	978	I>M		No	ClinGen ExAC gnomAD
CA7474200 rs746528646	978	I>T		No	ClinGen ExAC gnomAD
rs776612590 CA7474202	979	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA391693027 rs776612590	979	S>Y		No	ClinGen ExAC gnomAD
CA7474203 rs549104673	981	L>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1254425869 COSM699977 CA391693082	985	D>N	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA391693097 rs1382148322	986	P>R		No	ClinGen gnomAD
CA7474207 rs766614648	988	K>T		No	ClinGen ExAC
rs1343638849 CA391693129	989	R>Q		No	ClinGen gnomAD
rs774494999 CA7474208	989	R>W		No	ClinGen ExAC gnomAD
rs943999264 CA268760905	990	P>A		No	ClinGen Ensembl
CA391693154 rs1201177509	991	T>I		No	ClinGen TOPMed gnomAD
CA7474209 rs759638666	991	T>P		No	ClinGen ExAC gnomAD
CA391693184 rs1478664187	994	E>K		No	ClinGen TOPMed
CA7474213 rs764712144	997	K>R		No	ClinGen ExAC gnomAD
rs1379871606 CA391693254	998	S>G		No	ClinGen TOPMed
CA391693312 rs1486641068	1001	L>P		No	ClinGen gnomAD
CA268760975 rs1049230115	1002	P>L		No	ClinGen TOPMed gnomAD
CA268760969 rs201516447	1002	P>S		No	ClinGen 1000Genomes
rs1223356087	1003	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1248296440 CA391693341	1003	P>L		No	ClinGen TOPMed
CA7474217 rs779747657	1004	P>S		No	ClinGen ExAC gnomAD
rs1440301366 CA391693378	1006	M>L		No	ClinGen TOPMed gnomAD
rs1404424033 CA391693544	1014	V>G		No	ClinGen Ensembl
rs754482798 CA7474219	1015	L>M		No	ClinGen ExAC TOPMed
rs749069734 CA391693644	1021	N>K		No	ClinGen ExAC gnomAD
CA7474226 rs770680794	1022	V>M		No	ClinGen ExAC TOPMed gnomAD
rs931348106 CA268761064	1023	D>H		No	ClinGen gnomAD
CA268761066 rs1048926925	1026	A>V		No	ClinGen Ensembl
rs774600815 CA7474227	1027	Y>C		No	ClinGen ExAC gnomAD
CA268761069 rs368204542	1027	Y>D		No	ClinGen ESP TOPMed gnomAD
rs368204542 CA391693709	1027	Y>N		No	ClinGen ESP TOPMed gnomAD
CA391693790 rs1259765165	1030	M>I		No	ClinGen gnomAD
TCGA novel	1030	M>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7474230 rs775655115	1030	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1428832235 CA391693806	1031	M>L		No	ClinGen gnomAD
rs764693714 CA7474233	1033	Q>H		No	ClinGen ExAC gnomAD
CA7474235 rs757622670	1034	I>F		No	ClinGen ExAC
rs1386682957 CA391693900	1035	F>S		No	ClinGen TOPMed
CA391693907 rs187775209	1036	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7474236 rs187775209	1036	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7474238 rs558057788	1037	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs192344001 CA7474240	1038	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7474241 rs755675005	1038	R>H		No	ClinGen ExAC TOPMed gnomAD
rs192344001 CA391693919	1038	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1455020339 CA391693946	1040	S>F		No	ClinGen Ensembl
rs749223511 CA7474243	1041	P>L		No	ClinGen ExAC TOPMed gnomAD
rs778522175 CA7474245	1043	I>N		No	ClinGen ExAC gnomAD
rs374882637 CA7474247	1044	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA268761199 rs773901236	1047	Y>C		No	ClinGen gnomAD
CA391694004 rs1418441242	1047	Y>N		No	ClinGen gnomAD
CA268761201 rs956508365	1048	D>G		No	ClinGen Ensembl
CA7474249 rs542738522	1050	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs368118810 CA268761214	1051	I>R		No	ClinGen ESP
CA391694040 rs1195055343	1052	L>V		No	ClinGen gnomAD
CA7474267 rs769034154	1055	N>S		No	ClinGen ExAC TOPMed gnomAD
rs532787493 CA7474269	1059	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391694146 rs55781333	1060	T>I		No	ClinGen TOPMed
rs55781333 CA268762543 VAR_040484	1060	T>R		No	ClinGen UniProt TOPMed dbSNP
rs55781333 VAR_040484	1060	T>R		No	UniProt dbSNP
rs1595422097 CA391694170	1062	K>N		No	ClinGen Ensembl
CA268762553 rs1007691794	1062	K>R		No	ClinGen TOPMed gnomAD
CA391694175 rs1159998991	1063	M>L		No	ClinGen gnomAD
CA391694190 rs1385155516	1064	Q>E		No	ClinGen gnomAD
rs1315917555 CA391694253	1068	C>Y		No	ClinGen gnomAD
CA391694284 rs189498985	1070	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA268762561 rs189498985	1070	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7474271 rs189498985	1070	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391694287 rs1302192460	1071	I>V		No	ClinGen TOPMed
CA7474272 rs564994071	1073	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7474273 rs763201863	1073	R>H		No	ClinGen ExAC TOPMed
rs751952217 CA7474275	1075	F>V		No	ClinGen ExAC TOPMed gnomAD
CA7474276 rs760271257	1075	F>Y		No	ClinGen ExAC gnomAD
CA7474277 rs763748240	1078	H>R		No	ClinGen ExAC gnomAD
CA391694389 rs1292404706	1079	G>R		No	ClinGen gnomAD
rs759899622 CA7474295	1081	V>I		No	ClinGen ExAC TOPMed gnomAD
rs759899622 CA7474296	1081	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7474298 rs537808731	1083	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1211260520 CA391694490 COSM3981470	1083	L>V	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed
rs972602688 CA268763007	1086	P>L		No	ClinGen TOPMed gnomAD
rs554952114 CA7474299	1086	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1090	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766436054 CA7474302	1091	R>*		No	ClinGen ExAC TOPMed gnomAD
CA7474303 rs374814780	1091	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA391694595 rs1310057025	1092	N>S		No	ClinGen gnomAD
rs1595422481 CA391694625	1094	Q>H		No	ClinGen Ensembl
CA7474304 rs367610920	1096	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA391694667 rs1291767983	1097	E>V		No	ClinGen gnomAD
rs371752396 CA268763039	1099	N>D		No	ClinGen ESP TOPMed gnomAD
rs187113187 CA7474305	1100	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1251237585 CA391694714	1101	A>T		No	ClinGen gnomAD
rs1259006189 CA391694740	1105	M>V		No	ClinGen gnomAD
rs777859730 CA7474308	1108	S>R		No	ClinGen ExAC gnomAD
rs1567001231 CA391694826 COSM1478075	1110	M>I	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
CA391694844 rs1567001233	1112	V>L		No	ClinGen Ensembl
CA391694926 rs1567001245	1117	D>E		No	ClinGen Ensembl
rs1430047581 CA391694916	1117	D>Y		No	ClinGen gnomAD
CA268763109 rs534491026	1119	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534491026 CA7474313	1119	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1120	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1395462068 CA391695271	1121	P>L		No	ClinGen TOPMed
TCGA novel	1123	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1434180925 CA391695291	1123	A>T		No	ClinGen gnomAD
CA7474326 rs752456930	1123	A>V		No	ClinGen ExAC TOPMed gnomAD
rs756300037 CA7474327	1126	V>M		No	ClinGen ExAC TOPMed gnomAD
CA391695352 rs1387180679	1127	A>V		No	ClinGen TOPMed
rs1431753691 CA391695384	1130	N>D		No	ClinGen gnomAD
CA7474329 rs753912843	1133	N>H		No	ClinGen ExAC TOPMed gnomAD
rs990579926 CA268766286	1133	N>S		No	ClinGen TOPMed
TCGA novel	1134	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7474330 rs757387513	1136	R>Q		No	ClinGen ExAC gnomAD
rs752467687 CA7474344	1137	Y>C		No	ClinGen ExAC gnomAD
rs764288512 CA7474346	1138	C>F		No	ClinGen ExAC TOPMed gnomAD
CA7474345 rs760452850	1138	C>R		No	ClinGen ExAC gnomAD
rs754110383 CA7474347	1139	I>M		No	ClinGen ExAC gnomAD
CA391695584 rs1305852318	1139	I>T		No	ClinGen gnomAD
CA268766921 rs752209586	1141	R>C		No	ClinGen gnomAD
rs200122425 CA391695615	1142	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs200122425 CA7474349	1142	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA391695623 rs1259727194	1143	F>L		No	ClinGen TOPMed
rs750527432 CA7474350	1144	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7474351 rs200949201	1145	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs200949201 CA7474352	1145	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7474354 rs768947886	1146	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777532855 CA7474355	1150	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA391695707 rs1166058273	1156	L>F		No	ClinGen gnomAD
rs748905358 CA7474357	1157	L>P		No	ClinGen ExAC gnomAD
rs1460255037 CA391695724	1159	C>R		No	ClinGen gnomAD
CA7474358 rs770729036	1159	C>Y		No	ClinGen ExAC gnomAD
rs1270452324 CA391695748	1162	D>G		No	ClinGen TOPMed
CA391695753 rs1229151381	1163	I>V		No	ClinGen TOPMed
rs758972257 CA7474360	1165	T>N		No	ClinGen ExAC gnomAD
rs772040825 CA7474361	1166	S>C		No	ClinGen ExAC gnomAD
CA391695776 rs1348164652	1167	T>A		No	ClinGen gnomAD
rs936357152 CA268767068	1169	N>K		No	ClinGen Ensembl
rs904836566 CA268767066	1169	N>S		No	ClinGen TOPMed
rs1053449349 CA268767082	1170	S>G		No	ClinGen Ensembl
CA7474362 rs571573098	1170	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA7474363 rs760498751	1171	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1226436441 CA391695819	1174	T>S		No	ClinGen gnomAD
CA7474365 rs376436191	1176	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA391695834 rs1469135880	1176	E>D		No	ClinGen TOPMed
CA7474366 rs200753878	1177	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1203828304 CA391695846	1178	I>T		No	ClinGen gnomAD
CA268767134 rs761880955	1179	Y>C		No	ClinGen gnomAD
CA7474369 rs758476988	1180	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1181	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391695862 rs1474430583	1181	I>V		No	ClinGen gnomAD
rs557115304 CA7474370 COSM1608309	1182	Y>C	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs755569292 CA7474372	1186	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1368185718 CA391695928	1190	A>S		No	ClinGen gnomAD
rs1416137121 CA391695931	1190	A>V		No	ClinGen gnomAD
CA391695961 rs1176347422	1193	E>G		No	ClinGen TOPMed
rs1180625772 CA391695975	1195	N>T		No	ClinGen TOPMed gnomAD
rs374672286 CA7474394	1197	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs181345205 CA7474395	1198	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs181345205 CA7474396	1198	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7474397 rs745547168	1200	L>W		No	ClinGen ExAC gnomAD
CA7474398 rs758102780	1201	N>T		No	ClinGen ExAC gnomAD
CA268768451 rs371268073	1202	H>D		No	ClinGen ESP gnomAD
CA391696024 rs1159906680	1202	H>R		No	ClinGen gnomAD
CA268768455 rs534544185	1203	T>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs779383561 CA7474399	1204	M>T		No	ClinGen ExAC gnomAD
CA391696034 rs1421895393	1204	M>V		No	ClinGen TOPMed gnomAD
rs1243468082 CA391696078	1210	L>F		No	ClinGen TOPMed
rs373908432 CA7474401	1212	H>Q		No	ClinGen ESP ExAC gnomAD
rs757035408 CA268768466	1212	H>R		No	ClinGen Ensembl
CA268768461 rs1016324600	1212	H>Y		No	ClinGen TOPMed gnomAD
CA391696129 rs1280353793	1218	D>N		No	ClinGen gnomAD
CA391696140 rs1218757710	1219	K>T		No	ClinGen TOPMed
rs776312718 CA268768485	1220	L>F		No	ClinGen gnomAD
rs768517248 CA7474402	1221	S>G		No	ClinGen ExAC gnomAD
rs776621717 CA7474403	1222	Q>E		No	ClinGen ExAC gnomAD
rs776621717 CA391696158	1222	Q>K		No	ClinGen ExAC gnomAD
CA391696211 rs763034375	1229	D>E		No	ClinGen ExAC TOPMed gnomAD
CA7474406 rs773086005	1229	D>H		No	ClinGen ExAC gnomAD
CA268769678 rs756159766	1232	T>A		No	ClinGen TOPMed gnomAD
rs375023911 CA7474425	1233	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA391696260 rs1370004770	1235	L>P		No	ClinGen gnomAD
CA391696264 rs372621513	1236	T>K		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs372621513 CA7474427 COSM1372597	1236	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP TOPMed gnomAD
rs759665094 CA7474431	1237	R>K		No	ClinGen ExAC TOPMed gnomAD
CA391696337 rs1395753004	1246	N>K		No	ClinGen gnomAD
TCGA novel	1247	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1567004359 CA391696342	1247	L>P		No	ClinGen Ensembl
rs1370007190 CA391696354	1249	L>W		No	ClinGen TOPMed
CA391696358 rs1320936050	1250	S>P		No	ClinGen TOPMed
CA268769718 rs954681657	1251	S>A		No	ClinGen Ensembl
CA7474433 rs375593874	1251	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA391696378 rs1228826548	1253	S>N		No	ClinGen gnomAD
CA7474447 rs566634818	1256	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7474448 rs746048737	1257	L>V		No	ClinGen ExAC gnomAD
rs1281845992 CA391696451	1258	Y>H		No	ClinGen gnomAD
rs772446826 CA7474449	1258	Y>S		No	ClinGen ExAC gnomAD
CA7474450 rs775655202	1259	K>R		No	ClinGen ExAC gnomAD
CA268773529 rs374654521	1261	I>T		No	ClinGen ESP TOPMed
CA391696517 rs1360557023	1267	L>V		No	ClinGen TOPMed
rs747117940 CA7474452	1269	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA391696537 rs199959430	1270	L>F		No	ClinGen ExAC TOPMed gnomAD
rs199959430 CA7474453	1270	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1271	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391696552 rs867794168	1272	P>A		No	ClinGen gnomAD
rs190199769 CA7474454	1272	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA268773543 rs867794168	1272	P>S		No	ClinGen gnomAD
CA7474455 rs762066935	1273	T>I		No	ClinGen ExAC TOPMed gnomAD
CA391696579 rs1394265046	1276	S>*		No	ClinGen TOPMed
rs765678622 CA7474456	1281	K>E		No	ClinGen ExAC gnomAD
TCGA novel	1282	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7474457 rs773585412	1282	T>I		No	ClinGen ExAC gnomAD
rs1454616071 CA391696623	1283	G>S		No	ClinGen gnomAD
CA7474458 rs759128785	1286	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs767159012 CA7474459	1288	V>L		No	ClinGen ExAC gnomAD
rs767159012 CA391696656	1288	V>M		No	ClinGen ExAC gnomAD
CA7474460 rs182011676	1289	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs182011676 CA7474461	1289	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs569277860 CA7474462	1290	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1270533058 CA391696683	1292	L>S		No	ClinGen gnomAD
rs753852409 CA7474463	1293	K>R		No	ClinGen ExAC gnomAD
CA391696700 rs1567006381	1294	D>E		No	ClinGen Ensembl
rs1209050219 CA391696722	1297	E>D		No	ClinGen gnomAD
rs778801599 CA391696724	1298	V>F		No	ClinGen ExAC TOPMed gnomAD
rs778801599 CA7474466	1298	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1299	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758628535 CA7474468	1300	G>A		No	ClinGen ExAC gnomAD
CA391696748 rs1488193011	1302	L>W		No	ClinGen gnomAD
CA391675238 rs1420900437	1305	L>F		No	ClinGen TOPMed
rs35602605 VAR_040485	1306	G>C		No	UniProt dbSNP
CA7474472 rs35602605	1306	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376672601 CA268722492	1309	L>F		No	ClinGen Ensembl
TCGA novel	1311	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1312	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7474483 rs757161885	1314	N>S		No	ClinGen ExAC gnomAD
TCGA novel	1315	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1476384157 CA391675324	1316	G>A		No	ClinGen gnomAD
CA391675323 rs1476384157	1316	G>D		No	ClinGen gnomAD
rs1043094300 CA268722835	1316	G>S		No	ClinGen TOPMed gnomAD
CA391675327 rs1190791588	1317	L>V		No	ClinGen TOPMed gnomAD
CA391675333 rs1170010148	1318	V>F		No	ClinGen TOPMed
rs765272008 CA7474484	1320	K>E		No	ClinGen ExAC gnomAD
rs750240212 CA7474485	1321	V>A		No	ClinGen ExAC gnomAD
rs1413625185 CA391675356	1321	V>M		No	ClinGen gnomAD
CA391675359 rs1355754312	1322	Q>K		No	ClinGen gnomAD
CA391675388 rs1409950977	1325	N>S		No	ClinGen gnomAD
CA7474486 rs370038685	1327	I>V		No	ClinGen ExAC TOPMed gnomAD
CA391675407 rs1389195199	1328	I>T		No	ClinGen TOPMed
CA391675404 rs1348299222	1328	I>V		No	ClinGen gnomAD
rs151088578 CA7474487	1329	F>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391675426 rs1462357666	1331	F>L		No	ClinGen TOPMed
rs747299608 CA7474488	1331	F>S		No	ClinGen ExAC gnomAD
rs1226557981 CA391675434	1332	V>E		No	ClinGen gnomAD
rs755189791 CA7474489	1332	V>L		No	ClinGen ExAC gnomAD
rs781270229 CA7474490	1333	A>P		No	ClinGen ExAC TOPMed gnomAD
rs35480871 VAR_040486	1336	K>R		No	UniProt dbSNP
rs770279669 CA7474492	1337	R>*		No	ClinGen ExAC TOPMed gnomAD
rs770279669 CA391675464	1337	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1272681525 CA391675465	1337	R>Q		No	ClinGen gnomAD
CA391675483 rs1486780261	1340	R>G		No	ClinGen TOPMed gnomAD
rs778309113 CA7474493	1340	R>K		No	ClinGen ExAC gnomAD
CA391675495 rs1237291205	1342	V>I		No	ClinGen gnomAD
rs1472044454 CA391675501	1343	P>T		No	ClinGen gnomAD
CA7474494 rs749628586	1344	E>D		No	ClinGen ExAC gnomAD
rs774609730 CA7474496	1347	A>T		No	ClinGen ExAC TOPMed gnomAD
rs760327048 CA7474497	1348	A>D		No	ClinGen ExAC gnomAD
CA391675559 rs1433876593	1352	Y>C		No	ClinGen gnomAD
rs933589039 CA268722895	1352	Y>N		No	ClinGen Ensembl
CA391675573 rs1339628994	1354	L>P		No	ClinGen gnomAD
rs1051166356 CA268722901	1354	L>V		No	ClinGen Ensembl
CA7474517 rs771449291	1358	Q>E		No	ClinGen ExAC gnomAD
rs779279972 CA7474518	1358	Q>H		No	ClinGen ExAC gnomAD
rs1234145049 CA391675925	1358	Q>R		No	ClinGen TOPMed gnomAD
rs746223232 CA7474519	1364	A>V		No	ClinGen ExAC gnomAD
rs768352271 CA7474520	1368	V>I		No	ClinGen ExAC gnomAD
CA391675986 rs768352271	1368	V>L		No	ClinGen ExAC gnomAD
CA7474521 rs201279777	1372	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA268724452 rs755675446	1374	V>I		No	ClinGen gnomAD
rs1416445131 CA391676069	1375	S>G		No	ClinGen TOPMed
CA391676116 rs1393485247	1377	A>G		No	ClinGen TOPMed
CA391676150 rs1199028008	1379	D>G		No	ClinGen gnomAD
CA7474522 rs761387111	1380	K>R		No	ClinGen ExAC TOPMed gnomAD
CA391676166 rs761387111	1380	K>T		No	ClinGen ExAC TOPMed gnomAD
CA391676183 rs1476855604	1381	I>V		No	ClinGen gnomAD
rs1161045533 CA391676197	1382	S>P		No	ClinGen gnomAD
CA7474523 rs769471629	1384	A>G		No	ClinGen ExAC TOPMed gnomAD
CA391676229 rs1185305550	1384	A>S		No	ClinGen TOPMed
CA7474524 rs554057978	1385	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA7474525 rs762938580	1387	N>Y		No	ClinGen ExAC gnomAD
rs1387371259 CA391676301	1388	M>I		No	ClinGen TOPMed gnomAD
CA391676288 rs1396679687	1388	M>L		No	ClinGen gnomAD
CA7474545 rs774201908	1392	V>I		No	ClinGen ExAC gnomAD
rs759342548 CA7474546	1395	S>N		No	ClinGen ExAC gnomAD
CA7474547 rs767175226	1396	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA391676832 rs1482529431	1397	C>Y		No	ClinGen TOPMed gnomAD
CA391676849 rs1437928674	1398	D>E		No	ClinGen TOPMed
rs1595434113 CA391676882	1401	V>I		No	ClinGen Ensembl
rs760829375 CA7474551	1402	V>L		No	ClinGen ExAC gnomAD
rs760829375 CA7474550	1402	V>L		No	ClinGen ExAC gnomAD
rs989124207 CA268725795	1403	S>T		No	ClinGen TOPMed
CA7474552 rs753911187	1405	G>D		No	ClinGen ExAC gnomAD
CA7474554 RCV000606723 rs55721315 RCV000890824 VAR_040487	1406	Q>H		No	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs55721315 CA391676974	1406	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs55721315 VAR_040487	1406	Q>H		No	UniProt dbSNP
TCGA novel	1407	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1408	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750936017 CA7474555	1409	M>V		No	ClinGen ExAC gnomAD
rs1169318021 CA391677050	1410	S>C		No	ClinGen gnomAD
CA268725818 rs978004028	1416	T>I		No	ClinGen TOPMed gnomAD
rs1324967705 CA391677154	1417	Q>*		No	ClinGen TOPMed gnomAD
CA391677152 rs1324967705	1417	Q>E		No	ClinGen TOPMed gnomAD
rs758978249 CA7474556	1420	W>*		No	ClinGen ExAC gnomAD
CA7474557 rs370503647	1421	T>K		No	ClinGen ESP ExAC gnomAD
rs1328717556 CA391677247	1422	A>P		No	ClinGen gnomAD
rs1442621173 CA391677270	1423	G>V		No	ClinGen TOPMed gnomAD
rs916708288 CA268725850	1424	I>M		No	ClinGen Ensembl
CA391677287 rs1221664821	1425	T>A		No	ClinGen TOPMed
CA391677300 rs1229878080	1426	A>V		No	ClinGen gnomAD
rs1297738390 CA391677359	1429	M>T		No	ClinGen gnomAD
CA268725851 rs927782227	1430	Y>F		No	ClinGen TOPMed
rs747395033 CA7474560	1431	D>N		No	ClinGen ExAC TOPMed gnomAD
CA7474561 rs755819779	1432	W>L		No	ClinGen ExAC gnomAD
TCGA novel	1436	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7474582 rs755439554	1438	E>A		No	ClinGen ExAC TOPMed gnomAD
rs867659575 CA268726931	1445	H>N		No	ClinGen Ensembl
rs970508199 CA268726932	1445	H>R		No	ClinGen gnomAD
rs756955094 CA7474585	1446	H>N		No	ClinGen ExAC gnomAD
CA7474586 rs778227955	1446	H>R		No	ClinGen ExAC TOPMed gnomAD
rs745396838 CA7474587	1447	E>*		No	ClinGen ExAC gnomAD
CA391677716 rs745396838	1447	E>K		No	ClinGen ExAC gnomAD
rs1426050041 CA391677752	1449	T>A		No	ClinGen gnomAD
CA391677750 rs1426050041	1449	T>P		No	ClinGen gnomAD
rs1432849108 CA391677768	1450	Y>H		No	ClinGen gnomAD
rs780032707 CA7474589	1452	A>D		No	ClinGen ExAC gnomAD
rs746774269 CA7474590	1453	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1458136087 CA391677818	1453	L>V		No	ClinGen gnomAD
CA268726979 rs887448937	1457	K>E		No	ClinGen TOPMed
rs776430303 CA7474592	1457	K>R		No	ClinGen ExAC gnomAD
rs1385855048 CA391677931	1459	G>E		No	ClinGen gnomAD
CA7474594 rs770056067	1460	S>N		No	ClinGen ExAC TOPMed gnomAD
CA391677976 rs1171742504	1462	V>L		No	ClinGen TOPMed
rs1228837536 CA391677988	1463	K>E		No	ClinGen gnomAD
CA391677993 rs763163747	1463	K>M		No	ClinGen ExAC gnomAD
rs763163747 CA7474596	1463	K>R		No	ClinGen ExAC gnomAD
CA391679963 rs1157640532	1466	S>Y		No	ClinGen TOPMed
rs1426430485 CA391680147	1473	T>A		No	ClinGen TOPMed
rs760055598 CA7474618	1473	T>I		No	ClinGen ExAC
COSM961085 rs1161134551 CA391680228	1476	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1371975817 CA391680237	1476	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1430023616 CA391680422	1485	H>Q		No	ClinGen TOPMed gnomAD
CA391680607 rs1595437343	1492	T>I		No	ClinGen Ensembl
rs1265726077 CA391680615	1493	K>E		No	ClinGen TOPMed
rs750138192 CA7474623	1501	R>K		No	ClinGen ExAC gnomAD
CA7474643 rs766029933	1504	S>A		No	ClinGen ExAC gnomAD
rs754527586 CA7474645	1506	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7474646 rs567723643	1507	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs756038599 CA7474648	1510	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs200220823 CA7474649	1511	N>S		No	ClinGen ExAC TOPMed gnomAD
rs200220823 CA391681497	1511	N>T		No	ClinGen ExAC TOPMed gnomAD
CA7474650 rs749110563	1519	A>V		No	ClinGen ExAC gnomAD
rs757541478 CA7474651	1520	S>L		No	ClinGen ExAC gnomAD
CA391681612 rs1458306047	1521	G>S		No	ClinGen TOPMed
CA391681643 rs1199853103	1523	F>C		No	ClinGen TOPMed
rs758578331 CA7474678	1525	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1363903649 CA391681679	1528	A>G		No	ClinGen gnomAD
rs1363903649 CA391681680	1528	A>V		No	ClinGen gnomAD
rs542527519 CA7474680	1530	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7474682 rs559599794	1533	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA391681708 rs1314393578	1533	I>V		No	ClinGen TOPMed
CA391681715 rs1225255765	1534	V>L		No	ClinGen Ensembl
CA7474683 rs748493629	1535	S>C		No	ClinGen ExAC gnomAD
rs770098212 CA7474684	1536	V>A		No	ClinGen ExAC gnomAD
CA268731595 rs918809644	1536	V>M		No	ClinGen Ensembl
CA391681744 rs1244828388	1537	L>P		No	ClinGen gnomAD
CA7474686 rs200484118 COSM699975	1539	P>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs200484118 CA391681762	1539	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200484118 CA7474687	1539	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1542	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760170623 CA7474689	1542	L>P		No	ClinGen ExAC gnomAD
CA7474691 rs764061717	1543	S>L		No	ClinGen ExAC gnomAD
rs1442968816 CA391681834	1544	A>D		No	ClinGen TOPMed
rs944444533 CA268731630	1544	A>P		No	ClinGen TOPMed
CA391681878 rs1183015334	1546	T>I		No	ClinGen gnomAD
rs761863451 CA7474693	1548	R>G		No	ClinGen ExAC gnomAD
CA7474695 rs765082160	1549	R>C		No	ClinGen ExAC TOPMed gnomAD
rs374571578 CA7474696	1549	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs765082160 CA7474694	1549	R>S		No	ClinGen ExAC TOPMed gnomAD
CA268731655 rs368270840	1550	Y>C		No	ClinGen ESP gnomAD
CA7474697 rs780195972	1552	T>S		No	ClinGen ExAC gnomAD
rs1204790489 CA391682656	1554	V>L		No	ClinGen TOPMed
rs372637398 CA7474722	1557	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7474723 rs749633596	1557	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA391682706 rs1453196589	1558	L>P		No	ClinGen TOPMed gnomAD
rs947455887 CA268732634	1559	Q>H		No	ClinGen Ensembl
rs978916925 CA268732647	1560	T>I		No	ClinGen Ensembl
CA391682755 rs1260196697	1563	A>S		No	ClinGen gnomAD
CA268732652 rs777823474	1564	N>D		No	ClinGen TOPMed gnomAD
COSM268053 CA391682770 rs1193129637	1564	N>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1567012041 CA391682805	1567	Q>K		No	ClinGen Ensembl
CA7474724 rs757611930	1569	S>R		No	ClinGen ExAC gnomAD
rs377282168 CA7474725	1570	S>G		No	ClinGen ESP ExAC gnomAD
rs746601333 CA7474726	1572	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1573	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs924751979 CA268732659	1573	E>D		No	ClinGen Ensembl
CA391682923 rs1378177908	1575	L>R		No	ClinGen TOPMed
rs768425554 CA7474727	1576	A>V		No	ClinGen ExAC gnomAD
rs1567012211 CA391683072	1579	L>I		No	ClinGen Ensembl
CA7474752 rs749116540	1581	K>I		No	ClinGen ExAC gnomAD
rs372885956 CA7474753	1582	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA7474754 rs774005857	1585	L>I		No	ClinGen ExAC gnomAD
rs1169991255 CA391683215	1586	Q>H		No	ClinGen TOPMed
CA7474755 rs759394541	1587	F>L		No	ClinGen ExAC gnomAD
TCGA novel	1587	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391683255 rs1484537659	1589	S>*		No	ClinGen TOPMed gnomAD
rs756315327 RCV001003776	1589	S>*		No	ClinVar dbSNP
CA391683253 rs1484537659	1589	S>L		No	ClinGen TOPMed gnomAD
COSM1284705 rs376905395 CA268733060	1591	E>K	autonomic_ganglia Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA
rs1177054731 CA391683549	1592	W>C		No	ClinGen gnomAD
rs777094875 CA7474776	1592	W>G		No	ClinGen ExAC gnomAD
CA391683550 rs1405280315	1593	D>N		No	ClinGen gnomAD
CA7474777 rs748889505	1594	A>T		No	ClinGen ExAC gnomAD
CA7474778 rs770773012	1595	D>E		No	ClinGen ExAC TOPMed gnomAD
CA391683567 rs1473289785	1595	D>H		No	ClinGen TOPMed
rs1045326564 CA268735489	1598	A>T		No	ClinGen Ensembl
CA391683630 rs1595442519	1598	A>V		No	ClinGen Ensembl
rs905440331 CA268735497	1601	T>I		No	ClinGen Ensembl
rs778951910 CA7474780	1601	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1224519002 CA391683709	1604	K>R		No	ClinGen gnomAD
rs1272035243 CA391683724	1605	Q>E		No	ClinGen Ensembl
rs775295979 CA7474783	1609	R>C		No	ClinGen ExAC TOPMed gnomAD
rs775295979 CA7474784	1609	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7474785 rs374423145	1609	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs776558998 CA391683855	1611	P>L		No	ClinGen ExAC TOPMed
rs776558998 CA7474787	1611	P>R		No	ClinGen ExAC TOPMed
rs762015746 CA7474788	1613	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	1619	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA391684061 rs1318868978	1619	V>L		No	ClinGen TOPMed
rs763573480 CA7474791	1621	D>H		No	ClinGen ExAC gnomAD
rs751990151 CA7474793	1624	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs751990151 CA391684212	1624	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1161332135 CA391684234	1625	N>S		No	ClinGen TOPMed gnomAD
CA391684331 rs1385756321	1628	V>A		No	ClinGen gnomAD
CA391684344 rs1316419548	1629	E>G		No	ClinGen gnomAD
TCGA novel	1629	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1400253542	1631	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1632	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368650997 CA7474825	1632	V>L		No	ClinGen ESP ExAC TOPMed
CA391684610 rs368650997	1632	V>M		No	ClinGen ESP ExAC TOPMed
rs754846408 CA7474826	1634	V>M		No	ClinGen ExAC gnomAD
rs1328037723 CA391684694	1636	F>L		No	ClinGen gnomAD
CA7474828 rs372749738	1639	S>G		No	ClinGen ESP ExAC gnomAD
CA391684796 rs1428866264	1639	S>R		No	ClinGen TOPMed
rs773414544 CA7474830	1641	R>K		No	ClinGen ExAC TOPMed gnomAD
CA268736040 rs760560752	1644	Y>C		No	ClinGen gnomAD
rs771536699 CA7474832	1645	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA7474833 rs775047726	1646	R>*		No	ClinGen ExAC gnomAD
CA391684970 rs1173487438	1647	I>N		No	ClinGen TOPMed
rs759984595 CA7474834	1648	L>S		No	ClinGen ExAC gnomAD

1 associated diseases with Q9P2K8

[MIM: 234810]: Pulmonary venoocclusive disease 2, autosomal recessive (PVOD2)

A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension. . Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q9P2K8

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9P2K8

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Cytoplasm
PANTHER Family	PTHR11042	EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE EIF2-ALPHA KINASE -RELATED
PANTHER Subfamily	PTHR11042:SF197	EIF-2-ALPHA KINASE GCN2
PANTHER Protein Class	non-receptor serine/threonine protein kinase protein modifying enzyme
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
cytosolic ribosome	A ribosome located in the cytosol.
polysome	A multiribosomal structure representing a linear array of ribosomes held together by messenger RNA. They represent the active complexes in cellular protein synthesis and are able to incorporate amino acids into polypeptides both in vivo and in vitro.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
eukaryotic translation initiation factor 2alpha kinase activity	Catalysis of the reaction
protein serine kinase activity	Catalysis of the reactions
protein serine/threonine kinase activity	Catalysis of the reactions
tRNA binding	Binding to a transfer RNA.

29 GO annotations of biological process

Name	Definition
adaptive immune response	An immune response mediated by cells expressing specific receptors for antigens produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
cellular response to amino acid starvation	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 deprivation of amino acids.
cellular response to cold	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 cold stimulus, a temperature stimulus below the optimal temperature for that organism.
cellular response to leucine starvation	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 deprivation of leucine.
cellular response to UV	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.
defense response to virus	Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
DNA damage checkpoint signaling	A signal transduction process that contributes to a DNA damage checkpoint.
eiF2alpha phosphorylation in response to endoplasmic reticulum stress	The addition of a phosphate group on to the translation initiation factor eIF2alpha, as a result of endoplasmic reticulum stress.
GCN2-mediated signaling	A series of reactions in which a signal is passed on to downstream proteins within the cell via GCN2 (also known as EIF2AK4), an intracellular protein kinase that is activated by stress signals, such as amino acid starvation.
learning	Any process in an organism in which a relatively long-lasting adaptive behavioral change occurs as the result of experience.
long-term memory	The memory process that deals with the storage, retrieval and modification of information a long time (typically weeks, months or years) after receiving that information. This type of memory is typically dependent on gene transcription regulated by second messenger activation.
negative regulation by host of viral genome replication	A process in which a host organism stops, prevents or reduces the frequency, rate or extent of viral genome replication.
negative regulation of CREB transcription factor activity	Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor CREB.
negative regulation of neuron differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation.
negative regulation of translational initiation	Any process that stops, prevents, or reduces the frequency, rate or extent of translational initiation.
negative regulation of translational initiation in response to stress	Any process that stops, prevents or reduces the rate of translation initiation as a result of a stimulus indicating the organism is under stress.
neuron projection extension	Long distance growth of a single neuron projection involved in cellular development. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
positive regulation of adaptive immune response	Any process that activates or increases the frequency, rate, or extent of an adaptive immune response.
positive regulation of defense response to virus by host	Any host process that results in the promotion of antiviral immune response mechanisms, thereby limiting viral replication.
positive regulation of long-term synaptic potentiation	Any process that activates or increases the frequency, rate or extent of long-term synaptic potentiation.
positive regulation of translational initiation in response to starvation	Any process that activates or increases the frequency, rate or extent of translation initiation, as a result of deprivation of nourishment.
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of feeding behavior	Any process that modulates the rate, frequency or extent of the behavior associated with the intake of food.
regulation of translational initiation	Any process that modulates the frequency, rate or extent of translational initiation.
regulation of translational initiation by eIF2 alpha phosphorylation	Any process that modulates the frequency, rate or extent of translation initiation in response to stress by the phosphorylation of eIF2 alpha.
T cell activation involved in immune response	The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific, leading to the initiation or perpetuation of an immune response.
viral translation	A process by which viral mRNA is translated into viral protein, using the host cellular machinery.

7 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P15442	GCN2	eIF-2-alpha kinase GCN2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	EV
P30291	WEE1	Wee1-like protein kinase	Homo sapiens (Human)	PR
Q99640	PKMYT1	Membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase	Homo sapiens (Human)	PR
P19525	EIF2AK2	Interferon-induced, double-stranded RNA-activated protein kinase	Homo sapiens (Human)	PR
Q9NZJ5	EIF2AK3	Eukaryotic translation initiation factor 2-alpha kinase 3	Homo sapiens (Human)	PR
Q9QZ05	Eif2ak4	eIF-2-alpha kinase GCN2	Mus musculus (Mouse)	EV SS
D4A7V9	Eif2ak4	eIF-2-alpha kinase GCN2	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MAGGRGAPGR	GRDEPPESYP	QRQDHELQAL	EAIYGADFQD	LRPDACGPVK	EPPEINLVLY
70	80	90	100	110	120
PQGLTGEEVY	VKVDLRVKCP	PTYPDVVPEI	ELKNAKGLSN	ESVNLLKSRL	EELAKKHCGE
130	140	150	160	170	180
VMIFELAYHV	QSFLSEHNKP	PPKSFHEEML	ERRAQEEQQR	LLEAKRKEEQ	EQREILHEIQ
190	200	210	220	230	240
RRKEEIKEEK	KRKEMAKQER	LEIASLSNQD	HTSKKDPGGH	RTAAILHGGS	PDFVGNGKHR
250	260	270	280	290	300
ANSSGRSRRE	RQYSVCNSED	SPGSCEILYF	NMGSPDQLMV	HKGKCIGSDE	QLGKLVYNAL
310	320	330	340	350	360
ETATGGFVLL	YEWVLQWQKK	MGPFLTSQEK	EKIDKCKKQI	QGTETEFNSL	VKLSHPNVVR
370	380	390	400	410	420
YLAMNLKEQD	DSIVVDILVE	HISGVSLAAH	LSHSGPIPVH	QLRRYTAQLL	SGLDYLHSNS
430	440	450	460	470	480
VVHKVLSASN	VLVDAEGTVK	ITDYSISKRL	ADICKEDVFE	QTRVRFSDNA	LPYKTGKKGD
490	500	510	520	530	540
VWRLGLLLLS	LSQGQECGEY	PVTIPSDLPA	DFQDFLKKCV	CLDDKERWSP	QQLLKHSFIN
550	560	570	580	590	600
PQPKMPLVEQ	SPEDSEGQDY	VETVIPSNRL	PSAAFFSETQ	RQFSRYFIEF	EELQLLGKGA
610	620	630	640	650	660
FGAVIKVQNK	LDGCCYAVKR	IPINPASRQF	RRIKGEVTLL	SRLHHENIVR	YYNAWIERHE
670	680	690	700	710	720
RPAGPGTPPP	DSGPLAKDDR	AARGQPASDT	DGLDSVEAAA	PPPILSSSVE	WSTSGERSAS
730	740	750	760	770	780
ARFPATGPGS	SDDEDDDEDE	HGGVFSQSFL	PASDSESDII	FDNEDENSKS	QNQDEDCNEK
790	800	810	820	830	840
NGCHESEPSV	TTEAVHYLYI	QMEYCEKSTL	RDTIDQGLYR	DTVRLWRLFR	EILDGLAYIH
850	860	870	880	890	900
EKGMIHRDLK	PVNIFLDSDD	HVKIGDFGLA	TDHLAFSADS	KQDDQTGDLI	KSDPSGHLTG
910	920	930	940	950	960
MVGTALYVSP	EVQGSTKSAY	NQKVDLFSLG	IIFFEMSYHP	MVTASERIFV	LNQLRDPTSP
970	980	990	1000	1010	1020
KFPEDFDDGE	HAKQKSVISW	LLNHDPAKRP	TATELLKSEL	LPPPQMEESE	LHEVLHHTLT
1030	1040	1050	1060	1070	1080
NVDGKAYRTM	MAQIFSQRIS	PAIDYTYDSD	ILKGNFSIRT	AKMQQHVCET	IIRIFKRHGA
1090	1100	1110	1120	1130	1140
VQLCTPLLLP	RNRQIYEHNE	AALFMDHSGM	LVMLPFDLRI	PFARYVARNN	ILNLKRYCIE
1150	1160	1170	1180	1190	1200
RVFRPRKLDR	FHPKELLECA	FDIVTSTTNS	FLPTAEIIYT	IYEIIQEFPA	LQERNYSIYL
1210	1220	1230	1240	1250	1260
NHTMLLKAIL	LHCGIPEDKL	SQVYIILYDA	VTEKLTRREV	EAKFCNLSLS	SNSLCRLYKF
1270	1280	1290	1300	1310	1320
IEQKGDLQDL	MPTINSLIKQ	KTGIAQLVKY	GLKDLEEVVG	LLKKLGIKLQ	VLINLGLVYK
1330	1340	1350	1360	1370	1380
VQQHNGIIFQ	FVAFIKRRQR	AVPEILAAGG	RYDLLIPQFR	GPQALGPVPT	AIGVSIAIDK
1390	1400	1410	1420	1430	1440
ISAAVLNMEE	SVTISSCDLL	VVSVGQMSMS	RAINLTQKLW	TAGITAEIMY	DWSQSQEELQ
1450	1460	1470	1480	1490	1500
EYCRHHEITY	VALVSDKEGS	HVKVKSFEKE	RQTEKRVLET	ELVDHVLQKL	RTKVTDERNG
1510	1520	1530	1540	1550	1560
REASDNLAVQ	NLKGSFSNAS	GLFEIHGATV	VPIVSVLAPE	KLSASTRRRY	ETQVQTRLQT
1570	1580	1590	1600	1610	1620
SLANLHQKSS	EIEILAVDLP	KETILQFLSL	EWDADEQAFN	TTVKQLLSRL	PKQRYLKLVC
1630	1640
DEIYNIKVEK	KVSVLFLYSY	RDDYYRILF