AiPD: Autoinhibited Protein Database

P54756

Gene name	EPHA5 (BSK, EHK1, HEK7, TYRO4)
Protein name	Ephrin type-A receptor 5
Names	EC 2.7.10.1 , Brain-specific kinase , EPH homology kinase 1 , EHK-1 , EPH-like kinase 7 , EK7 , hEK7
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2044
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class

Descriptions

Ephrin type-B receptor 2 is a membrane-associated protein that mediates axon guidance, cell migration and morphogenesis. The Eph receptor tyrosine kinase family is regulated by autophosphorylation within the juxtamembrane region and the kinase activation segment. The structure, supported by mutagenesis data, reveals that the juxtamembrane segment adopts a helical conformation that distorts the small lobe of the kinase domain, and blocks the activation segment from attaining an activated conformation. Phosphorylation of the conserved juxtamembrane tyrosines would relieve this autoinhibition by disturbing the association of the juxtamembrane segment with the kinase domain, while liberating phosphotyrosine sites for binding SH2 domains of target proteins.

Autoinhibitory domains (AIDs)

649-675 (Juxtamembrane domain) SS

Target domain	675-936 (Protein kinase domain)
Relief mechanism	PTM
Assay

AID

649-675 (Juxtamembrane domain)

Target domain

675-936 (Protein kinase domain)

Relief mechanism

PTM (Phosphorylation of juxtamembrane domain)

Assay

Accessory elements

817-843 (Activation loop from InterPro)

Target domain	675-936 (Protein kinase domain)
Relief mechanism
Assay

References

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

Wybenga-Groot LE et al. (2001) "Structural basis for autoinhibition of the Ephb2 receptor tyrosine kinase by the unphosphorylated juxtamembrane region", Cell, 106, 745-57

Autoinhibited structure

Activated structure

3 structures for P54756

Entry ID	Method	Resolution	Chain	Position	Source
2R2P	X-ray	240 A	A	653-939	PDB
4ET7	X-ray	260 A	A	59-235	PDB
AF-P54756-F1	Predicted				AlphaFoldDB

4176 variants for P54756

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000599116 rs200932017 CA2936414	348	D>G	Astrocytoma [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000432246 COSM12957 CA16603113 rs1057520012 VAR_042143	582	G>E	lung Lung adenocarcinoma a lung adenocarcinoma sample; somatic mutation [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs757689701	2	R>G		No	ExAC TOPMed gnomAD
rs538762829	2	R>L		No	1000Genomes TOPMed gnomAD
rs538762829	2	R>P		No	1000Genomes TOPMed gnomAD
rs538762829	2	R>Q		No	1000Genomes TOPMed gnomAD
rs757689701	2	R>W		No	ExAC TOPMed gnomAD
rs764460627	3	G>D		No	ExAC TOPMed gnomAD
rs1578745719	3	G>R		No	gnomAD
rs1578745719	3	G>S		No	gnomAD
rs764460627	3	G>V		No	ExAC TOPMed gnomAD
rs758663274	4	S>A		No	ExAC TOPMed gnomAD
rs1750301372	4	S>L		No	TOPMed gnomAD
rs758663274	4	S>P		No	ExAC TOPMed gnomAD
rs758663274	4	S>T		No	ExAC TOPMed gnomAD
rs1750301372	4	S>W		No	TOPMed gnomAD
rs1255143503	5	G>E		No	gnomAD
rs1750300763	5	G>R		No	gnomAD
rs1255143503	5	G>V		No	gnomAD
rs1750300763	5	G>W		No	gnomAD
rs765397027	6	P>A		No	ExAC TOPMed gnomAD
rs569689074	6	P>L		No	1000Genomes ExAC gnomAD
rs569689074	6	P>R		No	1000Genomes ExAC gnomAD
rs765397027	6	P>S		No	ExAC TOPMed gnomAD
rs1003632234	7	R>G		No	TOPMed gnomAD
rs1750298328 COSM3781180	7	R>L	pancreas [Cosmic]	No	cosmic curated TOPMed
rs1750298328	7	R>P		No	TOPMed
rs1750298328	7	R>Q		No	TOPMed
rs1003632234	7	R>W		No	TOPMed gnomAD
rs1236009698	8	G>A		No	gnomAD
rs1236009698	8	G>D		No	gnomAD
rs1750297625	8	G>R		No	TOPMed
rs1750297625	8	G>S		No	TOPMed
rs1750296828	9	A>G		No	Ensembl
rs2149572221	9	A>P		No	Ensembl
rs1750296828	9	A>V		No	Ensembl
rs2149572190	10	G>*		No	1000Genomes
rs1750296307	10	G>A		No	Ensembl
rs1750296307	10	G>E		No	Ensembl
rs2149572190	10	G>R		No	1000Genomes
rs772954330	11	R>C		No	ExAC gnomAD
rs772954330	11	R>G		No	ExAC gnomAD
rs2149572124	11	R>H		No	Ensembl
rs2149572124	11	R>P		No	Ensembl
rs772954330	11	R>S		No	ExAC gnomAD
rs1472517358	12	R>G		No	TOPMed gnomAD
rs767372919	12	R>L		No	1000Genomes ExAC TOPMed
rs767372919	12	R>P		No	1000Genomes ExAC TOPMed
rs767372919	12	R>Q		No	1000Genomes ExAC TOPMed
rs1472517358	12	R>W		No	TOPMed gnomAD
rs1232945971	13	R>G		No	gnomAD
rs2149572055	13	R>P		No	Ensembl
rs2149572055	13	R>Q		No	Ensembl
rs1232945971	13	R>W		No	gnomAD
rs1197560367	14	P>H		No	gnomAD
rs1197560367	14	P>L		No	gnomAD
rs1197560367	14	P>R		No	gnomAD
rs1371005552	14	P>S		No	TOPMed gnomAD
rs1371005552	14	P>T		No	TOPMed gnomAD
rs761462274	15	P>L		No	ExAC gnomAD
rs761462274	15	P>Q		No	ExAC gnomAD
rs2149572003	15	P>S		No	Ensembl
rs2149572003	15	P>T		No	Ensembl
rs1157593106	16	S>R		No	TOPMed
rs2149571992	16	S>R		No	Ensembl
rs2149571985	16	S>T		No	Ensembl
rs2149571951	17	G>C		No	Ensembl
rs2149571951	17	G>R		No	Ensembl
rs2149571951	17	G>S		No	Ensembl
rs1163511215	18	G>A		No	TOPMed gnomAD
rs768337164	18	G>C		No	ExAC gnomAD
rs1163511215	18	G>D		No	TOPMed gnomAD
rs768337164	18	G>R		No	ExAC gnomAD
rs768337164	18	G>S		No	ExAC gnomAD
rs1163511215	18	G>V		No	TOPMed gnomAD
rs2149571881	19	G>A		No	1000Genomes
rs2149571881	19	G>D		No	1000Genomes
rs2149571881	19	G>V		No	1000Genomes
rs2149571852	20	D>A		No	Ensembl
rs2149571852	20	D>G		No	Ensembl
rs748934698	21	T>I		No	ExAC gnomAD
rs748934698	21	T>N		No	ExAC gnomAD
rs2149571820	21	T>S		No	Ensembl
rs748934698	21	T>S		No	ExAC gnomAD
rs981677547	22	P>H		No	TOPMed gnomAD
rs981677547	22	P>R		No	TOPMed gnomAD
rs775037757	22	P>S		No	ExAC TOPMed gnomAD
rs2149571756	23	I>M		No	Ensembl
rs2149571765	23	I>N		No	Ensembl
rs2149571765	23	I>S		No	Ensembl
rs2149571765	23	I>T		No	Ensembl
rs2149571744	24	T>A		No	Ensembl
rs2149571736	24	T>I		No	Ensembl
rs2149571744	24	T>P		No	Ensembl
rs2149571744	24	T>S		No	Ensembl
rs2149571736	24	T>S		No	Ensembl
rs2149571722	25	P>A		No	Ensembl
rs1750289517	25	P>L		No	TOPMed gnomAD
rs1750289517	25	P>Q		No	TOPMed gnomAD
rs1750289517	25	P>R		No	TOPMed gnomAD
rs2149571722	25	P>S		No	Ensembl
rs2149571722	25	P>T		No	Ensembl
rs888131597	26	A>G		No	TOPMed
rs2149571698	26	A>P		No	Ensembl
rs2149571698	26	A>S		No	Ensembl
rs2149571698	26	A>T		No	Ensembl
rs2149571656	27	S>A		No	Ensembl
rs1427311754	27	S>C		No	TOPMed gnomAD
rs1427311754	27	S>F		No	TOPMed gnomAD
rs2149571656	27	S>P		No	Ensembl
rs2149571656	27	S>T		No	Ensembl
rs1427311754	27	S>Y		No	TOPMed gnomAD
rs757761328	28	L>M		No	ExAC gnomAD
rs757761328	28	L>V		No	ExAC gnomAD
rs2149571577	29	A>G		No	Ensembl
rs1750287047	29	A>P		No	Ensembl
rs1750287047	29	A>S		No	Ensembl
rs1750287047	29	A>T		No	Ensembl
rs2149571531	30	G>A		No	Ensembl
rs747419095	30	G>C		No	ExAC TOPMed gnomAD
rs2149571531	30	G>D		No	Ensembl
rs747419095	30	G>R		No	ExAC TOPMed gnomAD
rs747419095	30	G>S		No	ExAC TOPMed gnomAD
rs2149571531	30	G>V		No	Ensembl
rs2149571484	31	C>F		No	Ensembl
rs2149571503	31	C>R		No	Ensembl
rs2149571484	31	C>S		No	Ensembl
rs2149571503	31	C>S		No	Ensembl
rs1750285901	31	C>W		No	Ensembl
rs2149571484	31	C>Y		No	Ensembl
rs778282180	32	Y>C		No	ExAC gnomAD
rs778282180	32	Y>F		No	ExAC gnomAD
rs1750285598	32	Y>H		No	Ensembl
rs778282180	32	Y>S		No	ExAC gnomAD
rs1281201494	33	S>A		No	TOPMed gnomAD
rs2149571432	33	S>F		No	Ensembl
rs1578745067	34	A>E		No	Ensembl
rs1578745067	34	A>G		No	Ensembl
rs758755197	34	A>P		No	ExAC TOPMed gnomAD
rs758755197	34	A>S		No	ExAC TOPMed gnomAD
rs758755197	34	A>T		No	ExAC TOPMed gnomAD
rs1578745067	34	A>V		No	Ensembl
rs2149571369	35	P>A		No	Ensembl
rs1750284207	35	P>L		No	TOPMed gnomAD
rs1750284207	35	P>R		No	TOPMed gnomAD
rs2149571369	35	P>S		No	Ensembl
rs2149571325	36	R>*		No	Ensembl
rs2149571325	36	R>G		No	Ensembl
rs2149571318	36	R>L		No	Ensembl
rs2149571318	36	R>P		No	Ensembl
rs2149571318	36	R>Q		No	Ensembl
rs368790458	37	R>G		No	ESP ExAC TOPMed gnomAD
rs963468479	37	R>L		No	TOPMed gnomAD
rs963468479	37	R>P		No	TOPMed gnomAD
rs963468479 COSM588040 COSM6100605	37	R>Q	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
COSM194436 rs368790458	37	R>W	large_intestine [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs1292875046	38	A>G		No	TOPMed
rs2149571248	38	A>P		No	Ensembl
rs2149571248	38	A>T		No	Ensembl
rs1292875046	38	A>V		No	TOPMed
COSM94203 rs1180540482	39	P>A	lung [Cosmic]	No	cosmic curated TOPMed gnomAD
rs2149571208	39	P>H		No	Ensembl
rs2149571208	39	P>L		No	Ensembl
rs2149571208	39	P>R		No	Ensembl
rs1180540482	39	P>S		No	TOPMed gnomAD
rs1015973614	40	L>F		No	gnomAD
rs2149571159	40	L>H		No	Ensembl
rs1015973614 TCGA novel	40	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs2149571159	40	L>P		No	Ensembl
rs1015973614	40	L>V		No	gnomAD
rs2149571124	41	W>C		No	Ensembl
rs1221750071	41	W>R		No	gnomAD
rs2149571115	42	T>A		No	Ensembl
rs1349494063	42	T>M		No	TOPMed gnomAD
rs1349494063	42	T>R		No	TOPMed gnomAD
rs986405158	43	C>*		No	gnomAD
rs1750280034	43	C>F		No	TOPMed
rs2149571081	43	C>G		No	Ensembl
rs2149571081	43	C>R		No	Ensembl
rs2149571081	43	C>S		No	Ensembl
rs1750280034	43	C>S		No	TOPMed
rs986405158	43	C>W		No	gnomAD
rs1750280034	43	C>Y		No	TOPMed
rs2149571044	44	L>F		No	Ensembl
rs1411448430	44	L>H		No	gnomAD
rs1411448430	44	L>P		No	gnomAD
rs2149571007	45	L>H		No	Ensembl
rs2149571007	45	L>P		No	Ensembl
rs2149570984	46	L>M		No	Ensembl
rs2149570984	46	L>V		No	Ensembl
TCGA novel	47	C>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1750278506	47	C>F		No	Ensembl
rs2149570967	47	C>G		No	Ensembl
rs2149570967	47	C>R		No	Ensembl
rs2149570967	47	C>S		No	Ensembl
rs1750278506	47	C>S		No	Ensembl
rs1447706612	47	C>W		No	gnomAD
rs1750278506	47	C>Y		No	Ensembl
rs2149570919	48	A>G		No	Ensembl
rs2149570934	48	A>P		No	Ensembl
rs2149570934	48	A>S		No	Ensembl
rs2149570934	48	A>T		No	Ensembl
rs2149570919 COSM4125569	48	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2149570883	49	A>E		No	Ensembl
rs138631715	49	A>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs138631715	49	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs138631715	49	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2149570883	49	A>V		No	Ensembl
rs1030234143	50	L>F		No	TOPMed gnomAD
rs2149570857	50	L>H		No	Ensembl
rs2149570857	50	L>P		No	Ensembl
rs1030234143	50	L>V		No	TOPMed gnomAD
rs763862819	51	R>G		No	ExAC TOPMed gnomAD
rs1750276446	51	R>L		No	TOPMed
rs1750276446	51	R>P		No	TOPMed
rs1750276446	51	R>Q		No	TOPMed
rs763862819	51	R>W		No	ExAC TOPMed gnomAD
rs2149570782	52	T>I		No	Ensembl
rs2149570782	52	T>S		No	Ensembl
rs2149570765	53	L>F		No	Ensembl
rs2149570753	53	L>H		No	Ensembl
rs2149570765	53	L>I		No	Ensembl
rs2149570765	53	L>V		No	Ensembl
rs2149570731	54	L>Q		No	Ensembl
rs762605425	54	L>V		No	ExAC gnomAD
rs2149570707	55	A>P		No	Ensembl
rs2149570707	55	A>S		No	Ensembl
rs2149570707	55	A>T		No	Ensembl
rs2149570672	56	S>N		No	Ensembl
rs2149570655	56	S>R		No	Ensembl
rs2149570686	56	S>R		No	Ensembl
rs2149570672	56	S>T		No	Ensembl
rs2149570646	57	P>A		No	Ensembl
rs1750275676	57	P>H		No	Ensembl
rs1750275676	57	P>L		No	Ensembl
rs1750275676	57	P>R		No	Ensembl
rs2149570646	57	P>T		No	Ensembl
rs1750275151	58	S>I		No	Ensembl
rs1750275151	58	S>N		No	Ensembl
COSM4125568 rs2149570598	58	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA Cosmic
rs1750275151	58	S>T		No	Ensembl
rs2149570582	59	N>I		No	Ensembl
COSM1559706 rs55860557	59	N>K	central_nervous_system [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs2149570582	59	N>S		No	Ensembl
rs2149570582	59	N>T		No	Ensembl
rs547670481	60	E>*		No	1000Genomes ExAC gnomAD
rs1283610012	60	E>D		No	TOPMed gnomAD
rs2149570541	60	E>G		No	Ensembl
rs547670481	60	E>K		No	1000Genomes ExAC gnomAD
rs547670481	60	E>Q		No	1000Genomes ExAC gnomAD
COSM4125567	61	V>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs527913976	61	V>M		No	1000Genomes TOPMed gnomAD
rs2149514985	62	N>I		No	Ensembl
rs749512234	62	N>Y		No	ExAC gnomAD
rs2149514982	63	L>F		No	Ensembl
rs2149514966	64	L>F		No	Ensembl
rs141103426	65	D>H		No	ESP ExAC TOPMed gnomAD
rs141103426	65	D>N		No	ESP ExAC TOPMed gnomAD
rs141103426	65	D>Y		No	ESP ExAC TOPMed gnomAD
rs2149514939	66	S>*		No	Ensembl
COSM3604959 rs2149514939	66	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1299875136	66	S>T		No	TOPMed gnomAD
COSM5866616 rs1439062174	67	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes NCI-TCGA gnomAD
rs1439062174	67	R>G		No	1000Genomes gnomAD
rs145126637	67	R>H		No	ESP ExAC gnomAD
rs145126637	67	R>L		No	ESP ExAC gnomAD
rs145126637	67	R>P		No	ESP ExAC gnomAD
rs777738030	68	T>A		No	ExAC gnomAD
rs1747837729	68	T>I		No	TOPMed
rs777738030	68	T>S		No	ExAC gnomAD
rs1747837729	68	T>S		No	TOPMed
rs2149514861	69	V>A		No	Ensembl
rs2149514861	69	V>D		No	Ensembl
rs2149514861	69	V>G		No	Ensembl
rs2149514876	69	V>I		No	Ensembl
rs2149514876	69	V>L		No	Ensembl
rs2149514841	70	M>I		No	Ensembl
rs2149514850	70	M>L		No	Ensembl
rs1398953167	71	G>A		No	Ensembl
rs1398953167	71	G>E		No	Ensembl
COSM6167729 COSM1540522 rs2149514833	71	G>R	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated Ensembl NCI-TCGA Cosmic
rs1398953167	71	G>V		No	Ensembl
rs2149514833	71	G>W		No	Ensembl
rs758301814	72	D>E		No	ExAC TOPMed gnomAD
rs1747837214	72	D>H		No	Ensembl
rs1747837214	72	D>N		No	Ensembl
rs2149514790	73	L>M		No	Ensembl
rs752501661	73	L>P		No	ExAC TOPMed gnomAD
rs752501661	73	L>Q		No	ExAC TOPMed gnomAD
COSM1430558	74	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2149514765	74	G>A		No	Ensembl
rs2149514765	74	G>E		No	Ensembl
rs2149514737	75	W>*		No	Ensembl
rs759127824	75	W>*		No	ExAC
rs2149514737	75	W>C		No	Ensembl
rs2149514756	75	W>G		No	Ensembl
rs2149514734	76	I>F		No	Ensembl
COSM377068 rs753467224	76	I>N	lung [Cosmic]	No	cosmic curated ExAC TOPMed
rs753467224	76	I>S		No	ExAC TOPMed
rs753467224	76	I>T		No	ExAC TOPMed
rs760211156	77	A>G		No	ExAC gnomAD
rs765840668	77	A>P		No	ExAC TOPMed gnomAD
rs765840668	77	A>S		No	ExAC TOPMed gnomAD
rs765840668	77	A>T		No	ExAC TOPMed gnomAD
rs760211156	77	A>V		No	ExAC gnomAD
rs1038054472	78	F>I		No	TOPMed
rs1038054472	78	F>L		No	TOPMed
rs2149514688	78	F>L		No	Ensembl
COSM1056662	78	F>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1578669621	79	P>A		No	Ensembl
rs267600206	79	P>L		No	ExAC gnomAD
rs267600206	79	P>Q		No	ExAC gnomAD
rs267600206	79	P>R		No	ExAC gnomAD
rs1578669621	79	P>S		No	Ensembl
TCGA novel	81	N>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	81	N>M	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs33932471 VAR_042138	81	N>T		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs774636130	82	G>A		No	ExAC TOPMed gnomAD
rs774636130	82	G>E		No	ExAC TOPMed gnomAD
rs2149514647 COSM1540523	82	G>R	lung [Cosmic]	No	cosmic curated Ensembl
rs774636130	82	G>V		No	ExAC TOPMed gnomAD
rs2149442320	83	W>*		No	Ensembl
rs2149442320	83	W>C		No	Ensembl
rs2149442342	83	W>R		No	Ensembl
rs2149442332	83	W>S		No	Ensembl
rs2149442302	84	E>*		No	Ensembl
rs534770476	84	E>D		No	gnomAD
rs2149442302	84	E>K		No	Ensembl
rs2149442302	84	E>Q		No	Ensembl
rs748071008	85	E>D		No	ExAC TOPMed gnomAD
rs2149442288	85	E>V		No	Ensembl
rs2149442268	86	I>F		No	Ensembl
rs1409744623	86	I>M		No	TOPMed gnomAD
rs778864056	86	I>N		No	ExAC gnomAD
rs778864056	86	I>S		No	ExAC gnomAD
rs778864056	86	I>T		No	ExAC gnomAD
rs2149442231	87	G>A		No	Ensembl
rs2149442238	87	G>C		No	Ensembl
rs2149442231	87	G>D		No	Ensembl
rs2149442238	87	G>R		No	Ensembl
rs2149442238	87	G>S		No	Ensembl
rs2149442231	87	G>V		No	Ensembl
rs868264524	88	E>*		No	Ensembl
rs2149442212	88	E>A		No	Ensembl
rs2149442206	88	E>D		No	Ensembl
rs868264524	88	E>K		No	Ensembl
rs868264524	88	E>Q		No	Ensembl
rs2149442212	88	E>V		No	Ensembl
rs2149442188	89	V>E		No	Ensembl
rs2149442188	89	V>G		No	Ensembl
rs2149442198	89	V>L		No	Ensembl
rs2149442198 COSM448031	89	V>M	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1397670613	90	D>E		No	TOPMed gnomAD
rs2149442163	90	D>H		No	Ensembl
rs2149442163	90	D>N		No	Ensembl
rs2149442163	90	D>Y		No	Ensembl
rs2149442144	91	E>Q		No	Ensembl
rs2149442134	91	E>V		No	Ensembl
rs2149442128	92	N>Y		No	Ensembl
rs2149442096	93	Y>*		No	Ensembl
rs2149442107	93	Y>F		No	Ensembl
rs754851534	93	Y>H		No	ExAC gnomAD
rs754851534	93	Y>N		No	ExAC gnomAD
rs2149442075	94	A>D		No	Ensembl
rs2149442075	94	A>G		No	Ensembl
rs2149442089	94	A>P		No	Ensembl
rs2149442089	94	A>S		No	Ensembl
rs2149442089	94	A>T		No	Ensembl
rs2149442075	94	A>V		No	Ensembl
rs1743812704	95	P>A		No	Ensembl
rs1743812704	95	P>S		No	Ensembl
rs1743812704	95	P>T		No	Ensembl
rs2149442038	96	I>F		No	Ensembl
rs2149442038	96	I>L		No	Ensembl
rs2149442027	96	I>T		No	Ensembl
rs2149442014	97	H>D		No	Ensembl
rs2149442014	97	H>N		No	Ensembl
rs1477912841	97	H>P		No	TOPMed gnomAD
rs2149441993	97	H>Q		No	Ensembl
rs2149442014	97	H>Y		No	Ensembl
rs2149441967	98	T>I		No	Ensembl
rs2149441967	98	T>R		No	Ensembl
rs2149441982	98	T>S		No	Ensembl
rs2149441934	99	Y>*		No	Ensembl
rs2149441948	99	Y>F		No	Ensembl
TCGA novel rs1743811665	99	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1743811665	99	Y>N		No	Ensembl
rs2149441948	99	Y>S		No	Ensembl
rs2149441918	100	Q>*		No	Ensembl
rs2149441918	100	Q>E		No	Ensembl
rs2149441910	100	Q>H		No	Ensembl
rs2149441918	100	Q>K		No	Ensembl
rs2149441889	101	V>A		No	Ensembl
rs2149441889	101	V>E		No	Ensembl
rs375311975	101	V>I		No	ESP ExAC TOPMed gnomAD
rs375311975	101	V>L		No	ESP ExAC TOPMed gnomAD
rs2149441860	102	C>F		No	Ensembl
rs2149441860	102	C>S		No	Ensembl
rs2149441874	102	C>S		No	Ensembl
rs1743810841	102	C>W		No	TOPMed
rs2149441860	102	C>Y		No	Ensembl
rs1743810574	103	K>*		No	Ensembl
rs1743810574	103	K>E		No	Ensembl
rs2149441837	103	K>I		No	Ensembl
rs1352645062	103	K>N		No	gnomAD
rs2149441837	103	K>R		No	Ensembl
rs1743809754	104	V>A		No	Ensembl
rs1743809754	104	V>E		No	Ensembl
rs1743809754	104	V>G		No	Ensembl
rs1311615514	104	V>L		No	TOPMed gnomAD
rs1311615514	104	V>M		No	TOPMed gnomAD
rs907974082	105	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	TOPMed NCI-TCGA
rs2149441771	105	M>K		No	Ensembl
rs2149441771	105	M>R		No	Ensembl
rs2149441777	105	M>V		No	Ensembl
rs2149441750	106	E>*		No	Ensembl
rs1254061574	106	E>D		No	TOPMed
rs2149441750	106	E>K		No	Ensembl
rs2149441750	106	E>Q		No	Ensembl
rs755885465	106	E>V		No	ExAC gnomAD
rs776259401	107	Q>*		No	ExAC gnomAD
rs776259401	107	Q>E		No	ExAC gnomAD
rs2149441711	107	Q>H		No	Ensembl
rs2149441722	107	Q>L		No	Ensembl
rs2149441722	107	Q>R		No	Ensembl
rs1224512272	108	N>D		No	gnomAD
rs767139493	108	N>I		No	ExAC gnomAD
COSM1618990 rs2149441684	108	N>K	liver [Cosmic]	No	cosmic curated Ensembl
rs1224512272	108	N>Y		No	gnomAD
rs2149441677 TCGA novel	109	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2149441677	109	Q>E		No	Ensembl
rs2149441644	109	Q>H		No	Ensembl
rs1743807617	109	Q>L		No	TOPMed
rs1743807617	109	Q>R		No	TOPMed
rs2149441628	110	N>I		No	Ensembl
rs2149441619	110	N>K		No	Ensembl
rs2149441628	110	N>T		No	Ensembl
rs2149441636	110	N>Y		No	Ensembl
rs2149441613	111	N>I		No	Ensembl
rs2149441603	111	N>K		No	Ensembl
rs2149441613	111	N>S		No	Ensembl
rs2149441586	112	W>*		No	Ensembl
rs1487585840	112	W>*		No	TOPMed gnomAD
rs1487585840	112	W>C		No	TOPMed gnomAD
rs2149441586	112	W>L		No	Ensembl
rs2149441597 COSM4923471	112	W>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2149441586	112	W>S		No	Ensembl
rs756748785	113	L>F		No	ExAC gnomAD
COSM363379 rs2149441561	113	L>H	lung [Cosmic]	No	cosmic curated Ensembl
rs2149441561	113	L>P		No	Ensembl
rs756748785	113	L>V		No	ExAC gnomAD
TCGA novel rs2149441539	114	L>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2149441527	114	L>F		No	Ensembl
rs2149441548	114	L>M		No	Ensembl
rs2149441539	114	L>S		No	Ensembl
rs2149441539	114	L>W		No	Ensembl
rs752027605	115	T>A		No	ExAC gnomAD
rs2149441512	115	T>I		No	Ensembl
rs2149441512	115	T>N		No	Ensembl
rs752027605	115	T>P		No	ExAC gnomAD
rs2149441512	115	T>S		No	Ensembl
rs752027605	115	T>S		No	ExAC gnomAD
rs2149441502	116	S>C		No	Ensembl
rs2149441492	116	S>I		No	Ensembl
TCGA novel	116	S>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2149441492	116	S>N		No	Ensembl
rs2149441481	116	S>R		No	Ensembl
rs2149441492	116	S>T		No	Ensembl
rs2149441451	117	W>*		No	Ensembl
rs2149441458	117	W>*		No	Ensembl
rs2149441451	117	W>C		No	Ensembl
TCGA novel rs2149441458	117	W>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2149441473	117	W>R		No	Ensembl
rs2149441458	117	W>S		No	Ensembl
rs2149441422	118	I>M		No	Ensembl
rs2149441432	118	I>N		No	Ensembl
rs2149441432	118	I>S		No	Ensembl
rs1743806038	118	I>V		No	Ensembl
rs2149441404	119	S>C		No	Ensembl
rs2149441404	119	S>F		No	Ensembl
rs1743805784	119	S>P		No	Ensembl
COSM351053 rs2149441404	119	S>Y	lung [Cosmic]	No	cosmic curated Ensembl
rs1472815382	120	N>I		No	gnomAD
rs2149441373	120	N>K		No	Ensembl
rs1472815382	120	N>S		No	gnomAD
rs2149441386	120	N>Y		No	Ensembl
rs2149441359	121	E>*		No	Ensembl
rs763366282	121	E>A		No	ExAC TOPMed gnomAD
rs2149441343	121	E>D		No	Ensembl
rs763366282	121	E>G		No	ExAC TOPMed gnomAD
rs2149441359	121	E>K		No	Ensembl
rs2149441359	121	E>Q		No	Ensembl
rs763366282	121	E>V		No	ExAC TOPMed gnomAD
rs775890729	122	G>A		No	ExAC gnomAD
COSM3696705	122	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs775890729	122	G>D		No	ExAC gnomAD
rs775890729	122	G>V		No	ExAC gnomAD
rs762375181	123	A>G		No	ExAC gnomAD
rs2149441317	123	A>P		No	Ensembl
rs2149441317	123	A>S		No	Ensembl
rs2149441317	123	A>T		No	Ensembl
rs762375181	123	A>V		No	ExAC gnomAD
rs2149441273	124	S>C		No	Ensembl
rs2149441273	124	S>F		No	Ensembl
TCGA novel rs2149441284	124	S>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2149441284	124	S>T		No	Ensembl
rs2149441273	124	S>Y		No	Ensembl
rs2149441249	125	R>I		No	Ensembl
rs2149441249	125	R>K		No	Ensembl
rs2149441244	125	R>S		No	Ensembl
rs2149441249	125	R>T		No	Ensembl
rs1257033070	126	I>F		No	gnomAD
rs1257033070	126	I>L		No	gnomAD
rs55882537	126	I>M		No	Ensembl
rs2149441224	126	I>N		No	Ensembl
rs2149441224	126	I>S		No	Ensembl
rs2149441224	126	I>T		No	Ensembl
rs2149441211	127	F>I		No	Ensembl
rs1743803792	127	F>L		No	TOPMed
rs2149441204	127	F>S		No	Ensembl
rs2149441204	127	F>Y		No	Ensembl
rs2149441182	128	I>K		No	Ensembl
rs759762389	128	I>L		No	ExAC TOPMed gnomAD
rs759762389	128	I>V		No	ExAC TOPMed gnomAD
rs2149441160 COSM1495845	129	E>*	Variant assessed as Somatic; HIGH impact. kidney [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2149441150	129	E>D		No	Ensembl
rs2149441160	129	E>K		No	Ensembl
rs2149441160	129	E>Q		No	Ensembl
rs2149441153	129	E>V		No	Ensembl
rs2149441137	130	L>F		No	Ensembl
rs2149441131	130	L>H		No	Ensembl
rs2149441137	130	L>I		No	Ensembl
rs2149441131	130	L>P		No	Ensembl
rs2149441137	130	L>V		No	Ensembl
rs1560758617	131	K>*		No	Ensembl
COSM170106 rs1560758617	131	K>E	Variant assessed as Somatic; MODERATE impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs551160675	131	K>N		No	1000Genomes ExAC gnomAD
rs1560758617	131	K>Q		No	Ensembl
rs771023872	131	K>R		No	ExAC TOPMed gnomAD
COSM4125566	131	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4125564 rs1743802142	132	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2149441089	132	F>I		No	Ensembl
rs2149441069	132	F>L		No	Ensembl
COSM4125565 rs2149441089	132	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1743802142	132	F>S		No	Ensembl
rs2149441057 COSM4911953	133	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2149441057	133	T>N		No	Ensembl
rs2149441057	133	T>S		No	Ensembl
rs2149441038	134	L>V		No	Ensembl
rs939351025	135	R>L		No	TOPMed gnomAD
rs939351025	135	R>P		No	TOPMed gnomAD
rs939351025	135	R>Q		No	TOPMed gnomAD
rs56375573 COSM1056660	135	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs2149440986	136	D>H		No	Ensembl
rs2149440986	136	D>N		No	Ensembl
rs2149440978	136	D>V		No	Ensembl
rs2149440986	136	D>Y		No	Ensembl
COSM6167731	137	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2149440964	137	C>R		No	Ensembl
rs2149440951	137	C>S		No	Ensembl
rs2149440964	137	C>S		No	Ensembl
rs2149440940	137	C>W		No	Ensembl
rs2149440951	137	C>Y		No	Ensembl
rs2149440924	138	N>I		No	Ensembl
rs1263912908	138	N>K		No	TOPMed gnomAD
rs2149440924	138	N>S		No	Ensembl
rs2149440924	138	N>T		No	Ensembl
rs2149440936	138	N>Y		No	Ensembl
rs1341576918	139	S>C		No	gnomAD
rs1341576918	139	S>G		No	gnomAD
rs2149440895	139	S>I		No	Ensembl
rs2149440895	139	S>N		No	Ensembl
rs2149440886	139	S>R		No	Ensembl
rs2149440895	139	S>T		No	Ensembl
rs749163457	140	L>F		No	ExAC gnomAD
rs2149440868	140	L>H		No	Ensembl
rs749163457	140	L>I		No	ExAC gnomAD
rs749163457	140	L>V		No	ExAC gnomAD
rs1217481114	141	P>A		No	gnomAD
rs1217481114	141	P>S		No	gnomAD
rs2149440833	142	G>*		No	Ensembl
rs1397271178	142	G>A		No	gnomAD
rs1397271178	142	G>E		No	gnomAD
rs2149440833	142	G>R		No	Ensembl
rs1397271178 TCGA novel	142	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs2149440817	143	G>*		No	Ensembl
rs2149440807	143	G>A		No	Ensembl
rs2149440807	143	G>E		No	Ensembl
rs2149440817	143	G>R		No	Ensembl
rs2149440807	143	G>V		No	Ensembl
rs2149440786	144	L>P		No	Ensembl
rs2149440786	144	L>Q		No	Ensembl
rs2149440791	144	L>V		No	Ensembl
rs2149440750	145	G>A		No	Ensembl
rs2149440750	145	G>E		No	Ensembl
COSM6167732 COSM1540525 rs2149440773	145	G>R	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated Ensembl NCI-TCGA Cosmic
rs2149440750	145	G>V		No	Ensembl
rs2149440773	145	G>W		No	Ensembl
rs2149440720	146	T>A		No	Ensembl
rs1319502118	146	T>I		No	gnomAD
rs1319502118	146	T>N		No	gnomAD
rs2149440720	146	T>P		No	Ensembl
rs2149440720	146	T>S		No	Ensembl
rs984876976	147	C>*		No	Ensembl
rs2149440688	147	C>F		No	Ensembl
rs2149440698	147	C>G		No	Ensembl
rs2149440698	147	C>R		No	Ensembl
rs2149440698	147	C>S		No	Ensembl
rs2149440688	147	C>S		No	Ensembl
rs984876976	147	C>W		No	Ensembl
rs2149440688	147	C>Y		No	Ensembl
rs2149440665	148	K>M		No	Ensembl
rs2149440665	148	K>R		No	Ensembl
rs2149440665 COSM1056658	148	K>T	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2149440641 COSM3714937	149	E>*	upper_aerodigestive_tract [Cosmic]	No	cosmic curated Ensembl
TCGA novel rs2149440627	149	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs2149440641	149	E>K		No	Ensembl
rs2149440641	149	E>Q		No	Ensembl
rs2149440635	149	E>V		No	Ensembl
rs2149440619	150	T>A		No	Ensembl
COSM3604958 rs2149440614	150	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2149440614	150	T>N		No	Ensembl
rs2149440619	150	T>S		No	Ensembl
rs2149440614	150	T>S		No	Ensembl
rs2149440595	151	F>I		No	Ensembl
rs2149440595	151	F>L		No	Ensembl
rs1743797218	151	F>L		No	TOPMed
rs2149440586	151	F>S		No	Ensembl
rs2149440586	151	F>Y		No	Ensembl
rs780941416	152	N>I		No	ExAC gnomAD
rs780941416	152	N>S		No	ExAC gnomAD
rs370146960	153	M>I		No	ESP ExAC TOPMed gnomAD
rs751149199 COSM3767940	153	M>K	liver [Cosmic]	No	cosmic curated ExAC gnomAD
rs756835684	153	M>L		No	ExAC TOPMed gnomAD
rs751149199	153	M>T		No	ExAC gnomAD
rs756835684	153	M>V		No	ExAC TOPMed gnomAD
rs1426850071	154	Y>C		No	gnomAD
rs2149440539	154	Y>D		No	Ensembl
rs1426850071	154	Y>F		No	gnomAD
rs2149440539	154	Y>H		No	Ensembl
rs2149440539	154	Y>N		No	Ensembl
rs1426850071	154	Y>S		No	gnomAD
rs2149440481	155	Y>*		No	Ensembl
rs758957894	155	Y>C		No	ExAC gnomAD
rs2149440508	155	Y>N		No	Ensembl
rs2149440469	156	F>I		No	Ensembl
rs2149440469	156	F>L		No	Ensembl
rs151252926	156	F>L		No	ESP ExAC TOPMed gnomAD
rs2149440459	156	F>S		No	Ensembl
rs2149440459	156	F>Y		No	Ensembl
rs765624878	157	E>*		No	ExAC gnomAD
rs568157878	157	E>D		No	1000Genomes ExAC TOPMed gnomAD
rs2149440438	157	E>G		No	Ensembl
rs765624878	157	E>K		No	ExAC gnomAD
rs765624878	157	E>Q		No	ExAC gnomAD
rs2149440418	158	S>*		No	Ensembl
rs2149440418	158	S>L		No	Ensembl
rs2149440370	159	D>E		No	Ensembl
rs766667618	159	D>G		No	ExAC gnomAD
rs2149440391	159	D>H		No	Ensembl
rs2149440391	159	D>N		No	Ensembl
rs766667618	159	D>V		No	ExAC gnomAD
rs2149440391	159	D>Y		No	Ensembl
rs2149440347	160	D>E		No	Ensembl
rs760801158	160	D>G		No	ExAC gnomAD
rs774667775	160	D>H		No	TOPMed gnomAD
rs774667775	160	D>N		No	TOPMed gnomAD
rs760801158	160	D>V		No	ExAC gnomAD
rs774667775	160	D>Y		No	TOPMed gnomAD
rs2149440339	161	Q>*		No	Ensembl
rs2149440339	161	Q>E		No	Ensembl
rs2149440322	161	Q>H		No	Ensembl
rs2149440339	161	Q>K		No	Ensembl
rs2149440331	161	Q>L		No	Ensembl
rs2149440331	161	Q>R		No	Ensembl
rs2149440310	162	N>I		No	Ensembl
rs2149440300	162	N>K		No	Ensembl
rs2149440310	162	N>S		No	Ensembl
rs2149440310	162	N>T		No	Ensembl
rs2149440317	162	N>Y		No	Ensembl
rs2149440282	163	G>A		No	Ensembl
rs2149440282 TCGA novel	163	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
COSM1430557 rs2149440294	163	G>R	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated Ensembl NCI-TCGA Cosmic
rs2149440282	163	G>V		No	Ensembl
rs2149440294	163	G>W		No	Ensembl
TCGA novel	164	R>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2149440269	164	R>I		No	Ensembl
rs2149440269	164	R>K		No	Ensembl
rs2149440258	164	R>S		No	Ensembl
rs2149440269	164	R>T		No	Ensembl
rs2149440249	165	N>D		No	Ensembl
rs773394949	165	N>I		No	ExAC gnomAD
rs2149440222	165	N>K		No	Ensembl
rs773394949	165	N>S		No	ExAC gnomAD
rs773394949	165	N>T		No	ExAC gnomAD
rs2149440249	165	N>Y		No	Ensembl
rs771983318	166	I>M		No	ExAC gnomAD
COSM355208 rs2149440203	166	I>N	lung [Cosmic]	No	cosmic curated Ensembl
rs2149440203	166	I>S		No	Ensembl
rs2149440203	166	I>T		No	Ensembl
rs1743792713	166	I>V		No	gnomAD
rs1435454817	167	K>*		No	gnomAD
rs1435454817	167	K>E		No	gnomAD
rs374526735	167	K>M		No	ESP ExAC TOPMed gnomAD
COSM325262 rs2149440161	167	K>N	lung [Cosmic]	No	cosmic curated Ensembl
rs374526735	167	K>R		No	ESP ExAC TOPMed gnomAD
rs2149440145	168	E>D		No	Ensembl
rs2149440151	168	E>K		No	Ensembl
rs2149440151	168	E>Q		No	Ensembl
rs2149440139	169	N>D		No	Ensembl
rs1743791527	169	N>I		No	TOPMed
rs1361993124	169	N>K		No	Ensembl
rs1743791527	169	N>S		No	TOPMed
rs1743791527	169	N>T		No	TOPMed
rs2149440139	169	N>Y		No	Ensembl
rs775528277	170	Q>*		No	ExAC gnomAD
rs775528277	170	Q>E		No	ExAC gnomAD
rs775528277	170	Q>K		No	ExAC gnomAD
rs2149440077	171	Y>*		No	Ensembl
rs1743790655	171	Y>C		No	TOPMed
rs879110644	171	Y>D		No	gnomAD
rs1743790655	171	Y>F		No	TOPMed
rs879110644	171	Y>H		No	gnomAD
rs879110644	171	Y>N		No	gnomAD
rs1743790655	171	Y>S		No	TOPMed
rs1743790357	172	I>F		No	Ensembl
rs2149440054	172	I>M		No	Ensembl
rs769732424	172	I>N		No	ExAC TOPMed gnomAD
rs769732424	172	I>S		No	ExAC TOPMed gnomAD
rs769732424	172	I>T		No	ExAC TOPMed gnomAD
rs1743790357	172	I>V		No	Ensembl
rs2149440051	173	K>*		No	Ensembl
rs2149440048	173	K>I		No	Ensembl
rs2149440043	173	K>N		No	Ensembl
rs2149440035 TCGA novel	174	I>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2149440035	174	I>V		No	Ensembl
rs2149439996	175	D>E		No	Ensembl
rs2149440009	175	D>G		No	Ensembl
rs2149440016	175	D>H		No	Ensembl
TCGA novel	175	D>I	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2149440016	175	D>N		No	Ensembl
rs2149440009	175	D>V		No	Ensembl
rs2149440016	175	D>Y		No	Ensembl
rs1578547773	176	T>A		No	Ensembl
rs2149439970 COSM1430556	176	T>I	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2149439970	176	T>N		No	Ensembl
rs1578547773	176	T>P		No	Ensembl
rs1578547773	176	T>S		No	Ensembl
rs2149439970	176	T>S		No	Ensembl
rs2149439948	177	I>N		No	Ensembl
rs1298669749	177	I>V		No	TOPMed
rs2149439923	178	A>G		No	Ensembl
rs1460374529	178	A>P		No	gnomAD
rs1460374529	178	A>S		No	gnomAD
rs1460374529	178	A>T		No	gnomAD
rs2149439923	178	A>V		No	Ensembl
rs2149439897	179	A>G		No	Ensembl
rs2149439901	179	A>P		No	Ensembl
rs2149439901	179	A>S		No	Ensembl
rs2149439901	179	A>T		No	Ensembl
rs770677273	180	D>E		No	ExAC TOPMed gnomAD
rs2149439855	180	D>G		No	Ensembl
rs1285001325	180	D>H		No	TOPMed gnomAD
rs1285001325	180	D>N		No	TOPMed gnomAD
rs2149439855	180	D>V		No	Ensembl
rs1285001325	180	D>Y		No	TOPMed gnomAD
COSM1540526 rs2149439834 COSM6167733	181	E>*	lung Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic Ensembl
rs2149439823	181	E>D		No	Ensembl
rs2149439831	181	E>G		No	Ensembl
rs2149439834	181	E>K		No	Ensembl
rs2149439834	181	E>Q		No	Ensembl
rs2149439831	181	E>V		No	Ensembl
rs2149439814	182	S>C		No	Ensembl
rs2149439814	182	S>G		No	Ensembl
rs2149439803	182	S>I		No	Ensembl
rs2149439803	182	S>N		No	Ensembl
rs1217799732 COSM4125563	182	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	TOPMed gnomAD NCI-TCGA Cosmic
rs2149439803	182	S>T		No	Ensembl
rs2149439787	183	F>I		No	Ensembl
rs2149439787	183	F>L		No	Ensembl
rs2149439770	183	F>L		No	Ensembl
rs2149439780	183	F>Y		No	Ensembl
rs746584927	184	T>I		No	ExAC gnomAD
COSM4681302	185	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1262598143	185	E>D		No	TOPMed gnomAD
rs2149439746	185	E>K		No	Ensembl
rs2149439746	185	E>Q		No	Ensembl
rs2149439736	185	E>V		No	Ensembl
rs777341649	186	L>F		No	ExAC gnomAD
rs757810079	186	L>H		No	ExAC
rs777341649	186	L>I		No	ExAC gnomAD
rs757810079	186	L>P		No	ExAC
rs757810079	186	L>R		No	ExAC
rs777341649	186	L>V		No	ExAC gnomAD
rs2149439674	187	D>E		No	Ensembl
rs2149439685	187	D>H		No	Ensembl
rs2149439685	187	D>N		No	Ensembl
rs2149439681 COSM1729966	187	D>V	liver [Cosmic]	No	cosmic curated Ensembl
rs2149439685	187	D>Y		No	Ensembl
rs2149439665	188	L>F		No	Ensembl
rs2149439663	188	L>H		No	Ensembl
COSM170679	188	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2149439665	188	L>V		No	Ensembl
rs1743784473	189	G>A		No	Ensembl
rs2149439650	189	G>C		No	Ensembl
rs1743784473	189	G>D		No	Ensembl
rs2149439650	189	G>R		No	Ensembl
COSM115979 rs2149439650	189	G>S	ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1743784473	189	G>V		No	Ensembl
rs1455722747	190	D>E		No	Ensembl
rs2149439629	190	D>H		No	Ensembl
rs2149439629	190	D>N		No	Ensembl
rs2149439629	190	D>Y		No	Ensembl
rs753230187	191	R>C		No	ExAC TOPMed gnomAD
rs753230187	191	R>G		No	ExAC TOPMed gnomAD
rs779449792	191	R>H		No	ExAC TOPMed gnomAD
rs779449792	191	R>L		No	ExAC TOPMed gnomAD
rs779449792	191	R>P		No	ExAC TOPMed gnomAD
rs753230187 COSM336781	191	R>S	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD
COSM370871 rs2149439571	192	V>A	lung [Cosmic]	No	cosmic curated Ensembl
rs2149439571	192	V>D		No	Ensembl
rs2149439579	192	V>F		No	Ensembl
rs2149439571	192	V>G		No	Ensembl
rs2149439579	192	V>I		No	Ensembl
rs2149439579	192	V>L		No	Ensembl
COSM4553057 COSM1580853 rs2149439536	193	M>I	Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	cosmic curated Ensembl NCI-TCGA Cosmic
rs2149439549	193	M>K		No	Ensembl
rs2149439558	193	M>L		No	Ensembl
rs2149439549	193	M>R		No	Ensembl
rs2149439549	193	M>T		No	Ensembl
rs2149439530	194	K>*		No	Ensembl
rs2149439519	194	K>I		No	Ensembl
rs2149439512	194	K>N		No	Ensembl
rs2149439519	194	K>R		No	Ensembl
rs2149439504	195	L>P		No	Ensembl
rs2149439504	195	L>Q		No	Ensembl
rs2149439482	196	N>D		No	Ensembl
rs2149439478	196	N>I		No	Ensembl
rs766634661	196	N>K		No	ExAC gnomAD
rs2149439482	196	N>Y		No	Ensembl
rs2149439464 COSM214114	197	T>I	breast [Cosmic]	No	cosmic curated Ensembl
rs2149439470	197	T>P		No	Ensembl
rs2149439464	197	T>R		No	Ensembl
rs2149439470	197	T>S		No	Ensembl
rs1343594860	198	E>*		No	gnomAD
rs1300848192	198	E>D		No	gnomAD
rs2149439435	198	E>G		No	Ensembl
rs1343594860	198	E>K		No	gnomAD
rs1343594860 COSM1671044	198	E>Q	lung central_nervous_system [Cosmic]	No	cosmic curated gnomAD
rs2149439435	198	E>V		No	Ensembl
COSM588043 COSM6100607 rs2149439410	199	V>F	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic Ensembl
rs2149439405	199	V>G		No	Ensembl
rs2149439410	199	V>I		No	Ensembl
rs2149439410	199	V>L		No	Ensembl
rs1418445600	200	R>*		No	TOPMed gnomAD
rs1418445600	200	R>G		No	TOPMed gnomAD
rs2149439360	200	R>K		No	Ensembl
rs2149439348	200	R>S		No	Ensembl
rs2149439360	200	R>T		No	Ensembl
rs559253947	201	D>E		No	1000Genomes ExAC TOPMed gnomAD
rs1161834938	201	D>G		No	TOPMed
rs1161834938	201	D>V		No	TOPMed
TCGA novel rs2149439344	201	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1331509406	202	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1331509406	202	V>E		No	gnomAD
rs1331509406	202	V>G		No	gnomAD
rs2149439322	202	V>I		No	Ensembl
rs2149439322	202	V>L		No	Ensembl
rs1457020315	203	G>*		No	TOPMed
rs1743778715	203	G>A		No	TOPMed gnomAD
TCGA novel rs1743778715	203	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1457020315	203	G>R		No	TOPMed
rs1743778715	203	G>V		No	TOPMed gnomAD
rs2149439269	204	P>A		No	Ensembl
rs2149439255	204	P>H		No	Ensembl
TCGA novel rs2149439255	204	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2149439255	204	P>R		No	Ensembl
rs2149439269	204	P>S		No	Ensembl
rs2149439269	204	P>T		No	Ensembl
rs1743778121	205	L>I		No	TOPMed
rs2149439221	205	L>P		No	Ensembl
rs2149439221	205	L>Q		No	Ensembl
rs1743778121	205	L>V		No	TOPMed
rs545501956	206	S>C		No	1000Genomes ExAC TOPMed gnomAD
rs545501956	206	S>G		No	1000Genomes ExAC TOPMed gnomAD
rs2149439203	206	S>N		No	Ensembl
rs2149439194	206	S>R		No	Ensembl
rs545501956	206	S>R		No	1000Genomes ExAC TOPMed gnomAD
rs1369888289	207	K>*		No	TOPMed gnomAD
rs1369888289	207	K>E		No	TOPMed gnomAD
rs2149439173	207	K>I		No	Ensembl
rs1369888289	207	K>Q		No	TOPMed gnomAD
rs2149439173	207	K>R		No	Ensembl
rs1000620204	208	K>M		No	gnomAD
rs1743776354	208	K>N		No	Ensembl
TCGA novel	208	K>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1000620204	208	K>R		No	gnomAD
rs1000620204	208	K>T		No	gnomAD
rs202165566	209	G>*		No	ExAC TOPMed gnomAD
rs1308288695	209	G>A		No	TOPMed gnomAD
rs1308288695	209	G>E		No	TOPMed gnomAD
rs202165566	209	G>R		No	ExAC TOPMed gnomAD
TCGA novel rs1308288695	209	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1743774853	210	F>C		No	TOPMed
rs774550681	210	F>I		No	ExAC gnomAD
rs774550681	210	F>L		No	ExAC gnomAD
rs1743774853	210	F>S		No	TOPMed
rs774550681	210	F>V		No	ExAC gnomAD
rs1743774853	210	F>Y		No	TOPMed
rs1743774548	211	Y>*		No	Ensembl
rs2149439094	211	Y>H		No	Ensembl
rs2149439094	211	Y>N		No	Ensembl
rs1374330043	212	L>F		No	TOPMed gnomAD
rs2149439072	212	L>H		No	Ensembl
rs2149439072	212	L>P		No	Ensembl
rs1374330043	212	L>V		No	TOPMed gnomAD
rs903568805	213	A>D		No	gnomAD
rs903568805	213	A>G		No	gnomAD
rs1393291600	213	A>P		No	gnomAD
rs1393291600	213	A>S		No	gnomAD
rs1393291600	213	A>T		No	gnomAD
rs903568805	213	A>V		No	gnomAD
rs2149439021	214	F>L		No	Ensembl
rs765304832	214	F>S		No	ExAC gnomAD
rs1044929860	215	Q>*		No	Ensembl
rs1044929860	215	Q>E		No	Ensembl
COSM3409402 rs1743772628	215	Q>H	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs1044929860	215	Q>K		No	Ensembl
rs2149439003	215	Q>L		No	Ensembl
rs2149439003	215	Q>R		No	Ensembl
rs2149438968	216	D>E		No	Ensembl
rs2149438973	216	D>G		No	Ensembl
rs2149438988	216	D>H		No	Ensembl
rs2149438988	216	D>N		No	Ensembl
rs2149438973	216	D>V		No	Ensembl
rs2149438988	216	D>Y		No	Ensembl
rs2149438937	217	V>A		No	Ensembl
rs2149438937	217	V>D		No	Ensembl
rs2149438949	217	V>F		No	Ensembl
rs2149438937	217	V>G		No	Ensembl
rs2149438949	217	V>I		No	Ensembl
rs2149438949	217	V>L		No	Ensembl
rs2149438911	218	G>A		No	Ensembl
rs2149438918	218	G>C		No	Ensembl
rs2149438911	218	G>D		No	Ensembl
rs2149438918	218	G>R		No	Ensembl
rs2149438918	218	G>S		No	Ensembl
rs2149438911	218	G>V		No	Ensembl
rs2149438883	219	A>G		No	Ensembl
rs2149438892	219	A>P		No	Ensembl
rs2149438892	219	A>S		No	Ensembl
rs2149438892	219	A>T		No	Ensembl
rs2149438883	219	A>V		No	Ensembl
rs2149438850	220	C>F		No	Ensembl
rs2149438861	220	C>G		No	Ensembl
rs2149438861	220	C>R		No	Ensembl
rs2149438861	220	C>S		No	Ensembl
rs2149438850	220	C>S		No	Ensembl
rs2149438850	220	C>Y		No	Ensembl
rs776499647	221	I>F		No	ExAC gnomAD
rs776499647	221	I>L		No	ExAC gnomAD
rs1560757687	221	I>N		No	Ensembl
rs1560757687	221	I>T		No	Ensembl
rs776499647	221	I>V		No	ExAC gnomAD
rs2149438799	222	A>D		No	Ensembl
rs2149438799	222	A>G		No	Ensembl
rs2149438805	222	A>P		No	Ensembl
rs2149438805	222	A>S		No	Ensembl
rs2149438805	222	A>T		No	Ensembl
rs2149438799	222	A>V		No	Ensembl
rs2149438782	223	L>Q		No	Ensembl
rs2149438782	223	L>R		No	Ensembl
rs770566700	224	V>F		No	ExAC gnomAD
rs770566700	224	V>I		No	ExAC gnomAD
rs770566700	224	V>L		No	ExAC gnomAD
rs2149438740	225	S>C		No	Ensembl
COSM1582626 rs2149438740	225	S>F	stomach [Cosmic]	No	cosmic curated Ensembl
rs2149438750	225	S>P		No	Ensembl
rs2149438750	225	S>T		No	Ensembl
rs2149438723	226	V>E		No	Ensembl
rs1437550554	226	V>L		No	TOPMed gnomAD
rs1437550554	226	V>M		No	TOPMed gnomAD
rs746706656 COSM3428594	227	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs746706656	227	R>G		No	ExAC TOPMed gnomAD
rs772693559	227	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs772693559	227	R>L		No	ExAC TOPMed gnomAD
rs772693559	227	R>P		No	ExAC TOPMed gnomAD
rs746706656	227	R>S		No	ExAC TOPMed gnomAD
rs866176221 COSM1430555	228	V>A	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs866176221	228	V>E		No	Ensembl
rs866176221	228	V>G		No	Ensembl
rs1173523898	228	V>I		No	gnomAD
rs1173523898 TCGA novel	228	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1277529756	229	Y>C		No	gnomAD
rs1277529756	229	Y>F		No	gnomAD
rs2149438606	229	Y>N		No	Ensembl
rs1277529756	229	Y>S		No	gnomAD
rs764464304	230	Y>*		No	ExAC gnomAD
rs2149438570	230	Y>F		No	Ensembl
rs2149438577	230	Y>H		No	Ensembl
rs2149438577	230	Y>N		No	Ensembl
rs2149438570	230	Y>S		No	Ensembl
rs1276193993	232	K>*		No	TOPMed gnomAD
rs1276193993	232	K>E		No	TOPMed gnomAD
rs2149438533	232	K>I		No	Ensembl
COSM4337738	232	K>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2149438527	232	K>N		No	Ensembl
rs1276193993	232	K>Q		No	TOPMed gnomAD
rs2149438533	232	K>R		No	Ensembl
rs2149438533	232	K>T		No	Ensembl
rs747700048 COSM126675	233	C>*	upper_aerodigestive_tract [Cosmic]	No	cosmic curated ExAC gnomAD
rs2149438516	233	C>F		No	Ensembl
rs2149438516 COSM6167734	233	C>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs747700048	233	C>W		No	ExAC gnomAD
rs2149438516	233	C>Y		No	Ensembl
rs778393292	234	P>A		No	ExAC gnomAD
COSM387447 rs1743765278	234	P>H	lung [Cosmic]	No	cosmic curated TOPMed
rs1743765278	234	P>L		No	TOPMed
rs1743765278	234	P>R		No	TOPMed
rs778393292	234	P>S		No	ExAC gnomAD
rs778393292	234	P>T		No	ExAC gnomAD
rs55710198 VAR_042139	235	S>A		No	UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1578546881	235	S>C		No	Ensembl
TCGA novel	235	S>F	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1578546881	235	S>F		No	Ensembl
rs55710198	235	S>P		No	1000Genomes ExAC TOPMed gnomAD
rs55710198	235	S>T		No	1000Genomes ExAC TOPMed gnomAD
rs2149438431	236	V>A		No	Ensembl
rs2149438431	236	V>E		No	Ensembl
rs2149438431	236	V>G		No	Ensembl
rs1237963710	236	V>L		No	TOPMed gnomAD
rs1237963710	236	V>M		No	TOPMed gnomAD
rs2149438400	237	V>E		No	Ensembl
rs1743763349	237	V>I		No	gnomAD
rs1743763349	237	V>L		No	gnomAD
COSM4681300 rs1373753989	238	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs147719164	238	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs147719164	238	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs147719164	238	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2149438340	239	H>D		No	Ensembl
rs2149438327	239	H>L		No	Ensembl
rs2149438327	239	H>P		No	Ensembl
rs780468296	239	H>Q		No	ExAC TOPMed gnomAD
rs2149438327	239	H>R		No	Ensembl
rs2149438340	239	H>Y		No	Ensembl
rs2149438305	240	L>*		No	Ensembl
rs2149438297	240	L>F		No	Ensembl
rs1409437377	240	L>M		No	TOPMed gnomAD
rs1409437377	240	L>V		No	TOPMed gnomAD
TCGA novel rs2149438262	241	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2149438262	241	A>G		No	Ensembl
rs2149438279	241	A>P		No	Ensembl
rs2149438279	241	A>S		No	Ensembl
rs2149438279	241	A>T		No	Ensembl
rs2149438262 TCGA novel COSM175927	241	A>V	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA Ensembl
rs2149438234	242	V>A		No	Ensembl
rs2149438234	242	V>D		No	Ensembl
rs2149438241	242	V>F		No	Ensembl
rs2149438234	242	V>G		No	Ensembl
rs2149438241	242	V>I		No	Ensembl
rs2149438241	242	V>L		No	Ensembl
rs2149438219	243	F>I		No	Ensembl
rs2149438200	243	F>L		No	Ensembl
rs2149438219	243	F>L		No	Ensembl
rs2149438211	243	F>Y		No	Ensembl
rs2149438189	244	P>A		No	Ensembl
rs1423709178	244	P>H		No	TOPMed
rs1423709178	244	P>L		No	TOPMed
rs1423709178	244	P>R		No	TOPMed
rs2149438189	244	P>S		No	Ensembl
rs2149438189	244	P>T		No	Ensembl
rs2149438133	245	D>A		No	Ensembl
rs2149438126	245	D>E		No	Ensembl
rs2149438133	245	D>G		No	Ensembl
rs756392572	245	D>H		No	ExAC TOPMed gnomAD
rs756392572	245	D>N		No	ExAC TOPMed gnomAD
rs2149438133	245	D>V		No	Ensembl
rs756392572	245	D>Y		No	ExAC TOPMed gnomAD
rs2149438102	246	T>I		No	Ensembl
rs2149438102	246	T>N		No	Ensembl
rs2149438116	246	T>P		No	Ensembl
rs2149438116	246	T>S		No	Ensembl
rs2149438102	246	T>S		No	Ensembl
rs2149438081	247	I>M		No	Ensembl
rs2149438099	247	I>N		No	Ensembl
rs2149438071	248	T>A		No	Ensembl
rs2149438062	248	T>I		No	Ensembl
rs2149438071	248	T>P		No	Ensembl
rs2149438071	248	T>S		No	Ensembl
rs2149438062	248	T>S		No	Ensembl
rs2149438045	249	G>*		No	Ensembl
rs1743759966	249	G>A		No	Ensembl
rs1743759966	249	G>E		No	Ensembl
rs2149438045	249	G>R		No	Ensembl
COSM334597 rs1743759966	249	G>V	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2149438016	250	A>D		No	Ensembl
rs2149438016	250	A>G		No	Ensembl
rs2149438028	250	A>P		No	Ensembl
rs2149438028	250	A>S		No	Ensembl
rs2149438028	250	A>T		No	Ensembl
rs2149438016	250	A>V		No	Ensembl
rs2149437987	251	D>A		No	Ensembl
rs2149437976	251	D>E		No	Ensembl
rs2149437995	251	D>H		No	Ensembl
rs2149437995	251	D>N		No	Ensembl
rs2149437987	251	D>V		No	Ensembl
rs2149437995	251	D>Y		No	Ensembl
rs907860171	252	S>C		No	Ensembl
rs907860171	252	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs2149437971	252	S>P		No	Ensembl
rs2149437971	252	S>T		No	Ensembl
rs907860171	252	S>Y		No	Ensembl
rs2149437934	253	S>C		No	Ensembl
rs2149437934	253	S>F		No	Ensembl
rs2149437941	253	S>P		No	Ensembl
rs2149437941	253	S>T		No	Ensembl
rs145600203	254	Q>H		No	ESP ExAC TOPMed gnomAD
rs2149437920	254	Q>K		No	Ensembl
rs2149437905	255	L>*		No	Ensembl
rs2149437895	255	L>F		No	Ensembl
rs767681842	255	L>M		No	ExAC gnomAD
rs2149437883	256	L>F		No	Ensembl
COSM335667 rs2149437866	256	L>H	lung [Cosmic]	No	cosmic curated Ensembl
rs2149437866	256	L>P		No	Ensembl
rs2149437883	256	L>V		No	Ensembl
rs757521167	257	E>*		No	ExAC TOPMed gnomAD
rs763044703	257	E>D		No	Ensembl
rs757521167	257	E>K		No	ExAC TOPMed gnomAD
rs757521167	257	E>Q		No	ExAC TOPMed gnomAD
rs2149437837	257	E>V		No	Ensembl
rs1235301323	258	V>A		No	gnomAD
rs2149437822	258	V>L		No	Ensembl
COSM6167735 rs2149437822 COSM1540528	258	V>M	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic Ensembl
rs1208833706	259	S>*		No	TOPMed gnomAD
rs2149437785	259	S>A		No	Ensembl
rs1208833706	259	S>L		No	TOPMed gnomAD
rs2149437785	259	S>P		No	Ensembl
rs2149437785	259	S>T		No	Ensembl
rs2149437743	260	G>A		No	Ensembl
rs2149437755	260	G>C		No	Ensembl
rs2149437743	260	G>D		No	Ensembl
rs2149437755	260	G>R		No	Ensembl
rs2149437755	260	G>S		No	Ensembl
rs2149437743	260	G>V		No	Ensembl
rs1202947730	261	S>C		No	TOPMed gnomAD
rs1202947730	261	S>F		No	TOPMed gnomAD
rs2149437727	261	S>P		No	Ensembl
rs2149437727	261	S>T		No	Ensembl
rs1202947730	261	S>Y		No	TOPMed gnomAD
rs775784767	262	C>*		No	ExAC TOPMed gnomAD
rs2149437703	262	C>S		No	Ensembl
rs775784767	262	C>W		No	ExAC TOPMed gnomAD
rs2149437703	262	C>Y		No	Ensembl
rs2149437676	263	V>A		No	Ensembl
rs2149437676	263	V>D		No	Ensembl
rs371073025	263	V>F		No	ESP ExAC TOPMed gnomAD
rs2149437676	263	V>G		No	Ensembl
rs371073025	263	V>I		No	ESP ExAC TOPMed gnomAD
rs371073025	263	V>L		No	ESP ExAC TOPMed gnomAD
rs2149437660	264	N>D		No	Ensembl
rs1226488146	264	N>I		No	gnomAD
rs1056564404	264	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	TOPMed gnomAD NCI-TCGA
rs1226488146	264	N>S		No	gnomAD
rs1226488146	264	N>T		No	gnomAD
rs2149437660	264	N>Y		No	Ensembl
rs766222138	265	H>D		No	ExAC gnomAD
rs766222138	265	H>N		No	ExAC gnomAD
rs1283470637	265	H>P		No	gnomAD
rs1486894578	265	H>Q		No	TOPMed gnomAD
rs766222138	265	H>Y		No	ExAC gnomAD
rs1743751965	266	S>C		No	gnomAD
rs1743751965	266	S>F		No	gnomAD
rs2149437611	266	S>T		No	Ensembl
rs2149437576	267	V>E		No	Ensembl
rs2149437580	267	V>L		No	Ensembl
rs2149437580	267	V>M		No	Ensembl
rs2149437563	268	T>A		No	Ensembl
rs763735303	268	T>I		No	Ensembl
rs763735303	268	T>N		No	Ensembl
rs2149437563	268	T>P		No	Ensembl
rs2149437563	268	T>S		No	Ensembl
rs763735303	268	T>S		No	Ensembl
rs1316527440	269	D>E		No	TOPMed gnomAD
rs1743749459	269	D>G		No	gnomAD
rs773032839	269	D>H		No	ExAC gnomAD
rs773032839	269	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1743749459	269	D>V		No	gnomAD
rs773032839	269	D>Y		No	ExAC gnomAD
rs2149437514	270	E>*		No	Ensembl
rs771782357	270	E>D		No	ExAC
rs2149437501	270	E>G		No	Ensembl
rs2149437514	270	E>K		No	Ensembl
rs2149437514	270	E>Q		No	Ensembl
rs2149437501	270	E>V		No	Ensembl
rs2149437484	271	P>A		No	Ensembl
rs1456895475	271	P>H		No	gnomAD
rs1456895475	271	P>L		No	gnomAD
rs1456895475	271	P>R		No	gnomAD
rs2149437484	271	P>S		No	Ensembl
rs2149437453	272	P>A		No	Ensembl
rs2149437453	272	P>S		No	Ensembl
rs2149437453	272	P>T		No	Ensembl
rs747781766	274	M>I		No	ExAC TOPMed gnomAD
rs2149437431	274	M>L		No	Ensembl
rs2149437431	274	M>V		No	Ensembl
rs773861301	275	H>D		No	ExAC gnomAD
rs2149437409	275	H>L		No	Ensembl
rs2149437409	275	H>P		No	Ensembl
rs2149437399	275	H>Q		No	Ensembl
rs773861301	275	H>Y		No	ExAC gnomAD
rs2149437384	276	C>F		No	Ensembl
rs2149437384 COSM1731095	276	C>S	liver [Cosmic]	No	cosmic curated Ensembl
rs2149437393 COSM1731095	276	C>S	liver [Cosmic]	No	cosmic curated Ensembl
rs2149437374	276	C>W		No	Ensembl
rs2149437384	276	C>Y		No	Ensembl
rs2149437364	277	S>C		No	Ensembl
rs2149437364	277	S>G		No	Ensembl
rs2149437356	277	S>I		No	Ensembl
rs2149437356	277	S>N		No	Ensembl
rs2149437364	277	S>R		No	Ensembl
rs377555731	277	S>R		No	ESP ExAC TOPMed gnomAD
rs2149437356	277	S>T		No	Ensembl
rs2149437330	278	A>D		No	Ensembl
rs2149437330	278	A>G		No	Ensembl
rs749830045	278	A>P		No	ExAC gnomAD
rs749830045	278	A>S		No	ExAC gnomAD
rs749830045 COSM3303690	278	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs2149437330	278	A>V		No	Ensembl
rs2149437289	279	E>D		No	Ensembl
rs2149437294	279	E>G		No	Ensembl
rs369606981 COSM448030	279	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine endometrium breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs369606981	279	E>Q		No	ESP ExAC TOPMed gnomAD
rs2149437294	279	E>V		No	Ensembl
rs2149437279	280	G>A		No	Ensembl
rs2149437279 TCGA novel	280	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
COSM6167736	281	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2149437240	281	E>D		No	Ensembl
rs2149437259	281	E>K		No	Ensembl
rs2149437259	281	E>Q		No	Ensembl
rs2149437254	281	E>V		No	Ensembl
rs746257878	282	W>*		No	ExAC gnomAD
rs1186376255	282	W>*		No	TOPMed
rs1186376255	282	W>C		No	TOPMed
rs2149437230	282	W>G		No	Ensembl
rs746257878	282	W>L		No	ExAC gnomAD
COSM6100609	282	W>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs746257878	282	W>S		No	ExAC gnomAD
rs2149437196	283	L>M		No	Ensembl
rs2149437185	283	L>Q		No	Ensembl
rs2149437196	283	L>V		No	Ensembl
rs202003158	284	V>G		No	ExAC gnomAD
rs2149437165	284	V>L		No	Ensembl
rs2149437165	284	V>M		No	Ensembl
rs764303111	285	P>A		No	ExAC gnomAD
rs758504916	285	P>H		No	ExAC
rs758504916	285	P>L		No	ExAC
rs758504916	285	P>R		No	ExAC
rs764303111	285	P>S		No	ExAC gnomAD
rs764303111	285	P>T		No	ExAC gnomAD
rs760662145	286	I>F		No	ExAC TOPMed gnomAD
rs760662145	286	I>L		No	ExAC TOPMed gnomAD
COSM3826066 rs767238890	286	I>M	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD
rs750247121	286	I>N		No	ExAC
rs750247121	286	I>S		No	ExAC
rs750247121	286	I>T		No	ExAC
rs2149437044	287	G>A		No	Ensembl
rs2149437044	287	G>E		No	Ensembl
rs761454685 COSM194426	287	G>R	large_intestine [Cosmic]	No	cosmic curated ExAC gnomAD
rs761454685	287	G>W		No	ExAC gnomAD
rs768175677	288	K>E		No	ExAC gnomAD
rs762416810	288	K>R		No	ExAC gnomAD
rs762416810	288	K>T		No	ExAC gnomAD
TCGA novel rs2149436965	289	C>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1381498023	289	C>F		No	gnomAD
rs1381498023	289	C>S		No	gnomAD
rs775034188	289	C>S		No	ExAC
rs2149436965	289	C>W		No	Ensembl
rs1381498023	289	C>Y		No	gnomAD
rs2149436937	290	M>I		No	Ensembl
rs1743738411	290	M>K		No	TOPMed
rs2149436949	290	M>L		No	Ensembl
rs2149436949	290	M>V		No	Ensembl
rs770270266	291	C>*		No	ExAC gnomAD
rs2149436920	291	C>F		No	Ensembl
rs2149436931	291	C>G		No	Ensembl
rs2149436920	291	C>S		No	Ensembl
rs2149436931	291	C>S		No	Ensembl
rs770270266	291	C>W		No	ExAC gnomAD
rs2149436920	291	C>Y		No	Ensembl
rs2149436892	292	K>*		No	Ensembl
rs2149436892	292	K>E		No	Ensembl
rs1338085400	292	K>M		No	TOPMed gnomAD
rs1338085400	292	K>R		No	TOPMed gnomAD
rs1743737074	293	A>E		No	TOPMed
rs1743737074	293	A>G		No	TOPMed
rs1743737403	293	A>P		No	TOPMed
rs1743737403	293	A>T		No	TOPMed
rs1743737074	293	A>V		No	TOPMed
rs2149436842	294	G>*		No	Ensembl
COSM6100610 COSM588046 rs1743736713	294	G>A	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic Ensembl
rs1743736713	294	G>E		No	Ensembl
rs2149436842	294	G>R		No	Ensembl
rs1743736713	294	G>V		No	Ensembl
rs144854903	295	Y>*		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2149436807	295	Y>C		No	Ensembl
rs2149436807	295	Y>F		No	Ensembl
rs2149436817	295	Y>N		No	Ensembl
rs2149436792	296	E>*		No	Ensembl
rs1322728192	296	E>D		No	TOPMed gnomAD
rs2149436792	296	E>K		No	Ensembl
rs2149436792	296	E>Q		No	Ensembl
rs2149436784	296	E>V		No	Ensembl
rs2149436749	297	E>D		No	Ensembl
rs2149436761	297	E>K		No	Ensembl
rs2149436761	297	E>Q		No	Ensembl
COSM4923344	297	E>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1460229951	298	K>E		No	gnomAD
rs1170909957	298	K>T		No	TOPMed
rs2149436723	299	N>D		No	Ensembl
rs2149436709	299	N>I		No	Ensembl
rs2149436709	299	N>T		No	Ensembl
rs778192399	300	G>A		No	ExAC TOPMed gnomAD
rs2149436694	300	G>C		No	Ensembl
rs778192399	300	G>D		No	ExAC TOPMed gnomAD
rs2149436694	300	G>R		No	Ensembl
rs2149436694	300	G>S		No	Ensembl
rs778192399	300	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2149436665	301	T>A		No	Ensembl
rs758618664	301	T>I		No	ExAC TOPMed gnomAD
COSM3946508 rs758618664	301	T>N	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs2149436665	301	T>P		No	Ensembl
rs2149436665	301	T>S		No	Ensembl
rs758618664	301	T>S		No	ExAC TOPMed gnomAD
rs2149436612	302	C>*		No	Ensembl
rs2149436625	302	C>R		No	Ensembl
rs2149436620	302	C>S		No	Ensembl
rs2149436625	302	C>S		No	Ensembl
rs2149436612	302	C>W		No	Ensembl
rs2149436620	302	C>Y		No	Ensembl
rs2149436607	303	Q>E		No	Ensembl
rs2149436590	303	Q>H		No	Ensembl
rs2149436596	303	Q>R		No	Ensembl
rs1731844326	304	V>A		No	gnomAD
rs1731844326	304	V>E		No	gnomAD
rs2149226804	305	C>*		No	Ensembl
rs2149226821	305	C>F		No	Ensembl
rs2149226833	305	C>R		No	Ensembl
rs2149226833	305	C>S		No	Ensembl
rs2149226821	305	C>S		No	Ensembl
rs2149226804	305	C>W		No	Ensembl
rs2149226821	305	C>Y		No	Ensembl
rs2149226797	306	R>*		No	Ensembl
rs2149226797	306	R>G		No	Ensembl
rs2149226789	306	R>K		No	Ensembl
rs2149226775	306	R>S		No	Ensembl
rs2149226789	306	R>T		No	Ensembl
rs2149226758	307	P>A		No	Ensembl
rs1172104594	307	P>H		No	TOPMed gnomAD
rs1172104594	307	P>L		No	TOPMed gnomAD
rs1172104594	307	P>R		No	TOPMed gnomAD
rs2149226758	307	P>S		No	Ensembl
rs1430800927	308	G>A		No	TOPMed gnomAD
rs1430800927	308	G>E		No	TOPMed gnomAD
rs1276825455	308	G>R		No	gnomAD
rs1430800927	308	G>V		No	TOPMed gnomAD
rs2149226689	309	F>L		No	Ensembl
rs2149226700	309	F>S		No	Ensembl
rs2149226700	309	F>Y		No	Ensembl
rs2149226677	310	F>I		No	Ensembl
rs2149226677	310	F>L		No	Ensembl
rs2149226653	310	F>L		No	Ensembl
rs2149226668	310	F>S		No	Ensembl
rs2149226643	311	K>E		No	Ensembl
rs2149226632	311	K>I		No	Ensembl
COSM387446 rs2149226621	311	K>N	lung [Cosmic]	No	cosmic curated Ensembl
rs2149226632	311	K>R		No	Ensembl
rs2149226593	312	A>D		No	Ensembl
rs2149226593	312	A>G		No	Ensembl
rs1731842423	312	A>P		No	gnomAD
rs1731842423	312	A>S		No	gnomAD
rs1731842423	312	A>T		No	gnomAD
rs2149226593	312	A>V		No	Ensembl
rs2149226560	313	S>*		No	Ensembl
rs1731842067	313	S>A		No	TOPMed gnomAD
rs2149226560	313	S>L		No	Ensembl
rs1731842067	313	S>P		No	TOPMed gnomAD
rs1731842067	313	S>T		No	TOPMed gnomAD
rs2149226532	314	P>A		No	Ensembl
rs1311812893	315	H>D		No	gnomAD
rs898245199	315	H>L		No	TOPMed gnomAD
rs1311812893	315	H>N		No	gnomAD
rs1731840661	315	H>Q		No	Ensembl
rs898245199	315	H>R		No	TOPMed gnomAD
rs1311812893	315	H>Y		No	gnomAD
rs2149226474	316	I>F		No	Ensembl
rs2149226448	316	I>M		No	Ensembl
rs150719652	316	I>N		No	ESP ExAC TOPMed gnomAD
rs150719652	316	I>T		No	ESP ExAC TOPMed gnomAD
rs1731840024	317	Q>*		No	TOPMed
rs2149226418	317	Q>H		No	Ensembl
rs1731840024	317	Q>K		No	TOPMed
rs1731839757	317	Q>P		No	gnomAD
rs2149226410	318	S>C		No	Ensembl
rs2149226410	318	S>G		No	Ensembl
TCGA novel rs2149226405	318	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs781153613	319	C>*		No	ExAC TOPMed gnomAD
rs2149226388	319	C>R		No	Ensembl
rs2149226380	319	C>S		No	Ensembl
rs781153613	319	C>W		No	ExAC TOPMed gnomAD
rs2149226380	319	C>Y		No	Ensembl
rs1410955850	320	G>A		No	gnomAD
rs375878596	320	G>C		No	ESP ExAC TOPMed gnomAD
rs1410955850	320	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs375878596	320	G>R		No	ESP ExAC TOPMed gnomAD
rs375878596	320	G>S		No	ESP ExAC TOPMed gnomAD
rs1410955850	320	G>V		No	gnomAD
rs2149226313	321	K>I		No	Ensembl
rs2149226313	321	K>R		No	Ensembl
rs751422430	322	C>*		No	ExAC TOPMed gnomAD
rs2149226296	322	C>G		No	Ensembl
rs2149226296	322	C>S		No	Ensembl
rs1370682403	322	C>S		No	gnomAD
rs751422430	322	C>W		No	ExAC TOPMed gnomAD
COSM1056649 rs1370682403	322	C>Y	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs141630624	323	P>A		No	ESP ExAC TOPMed gnomAD
rs2149226256	323	P>L		No	Ensembl
rs2149226256	323	P>Q		No	Ensembl
rs141630624	323	P>S		No	ESP ExAC TOPMed gnomAD
rs141630624	323	P>T		No	ESP ExAC TOPMed gnomAD
rs1731837317	324	P>A		No	TOPMed
rs1731837001	324	P>L		No	TOPMed
rs1731837001	324	P>R		No	TOPMed
rs1731837317	324	P>S		No	TOPMed
rs2149226201	325	H>D		No	Ensembl
rs1731836712	325	H>L		No	Ensembl
rs1731836712	325	H>P		No	Ensembl
rs1376717903	325	H>Q		No	TOPMed gnomAD
rs1731836712	325	H>R		No	Ensembl
rs2149226201	325	H>Y		No	Ensembl
COSM2156104	326	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3974980 rs1176279136	326	S>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs939867549	326	S>R		No	TOPMed
rs1434704749	326	S>T		No	gnomAD
rs757991950	327	Y>*		No	ExAC gnomAD
rs2149226136	327	Y>F		No	Ensembl
rs2149226143	327	Y>H		No	Ensembl
rs2149226143	327	Y>N		No	Ensembl
rs2149226115	328	T>A		No	Ensembl
rs574202545	328	T>I		No	TOPMed
rs2149226115	328	T>P		No	Ensembl
rs2149226115	328	T>S		No	Ensembl
rs574202545	328	T>S		No	TOPMed
rs1424261072	329	H>D		No	TOPMed gnomAD
rs1731833729	329	H>Q		No	TOPMed
rs1412510082	329	H>R		No	TOPMed gnomAD
rs762922618	330	E>D		No	ExAC TOPMed gnomAD
rs56205382	330	E>K		No	TOPMed gnomAD
rs56205382 VAR_042140	330	E>Q		No	UniProt TOPMed dbSNP gnomAD
COSM1251308 rs2149226048	330	E>V	liver oesophagus [Cosmic]	No	cosmic curated Ensembl
COSM1056647 rs2149226013	331	E>D	endometrium Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated Ensembl NCI-TCGA Cosmic
rs764677767	331	E>K		No	ExAC gnomAD
rs764677767	331	E>Q		No	ExAC gnomAD
rs776252545	332	A>G		No	ExAC gnomAD
rs759135705	332	A>P		No	ExAC TOPMed gnomAD
rs759135705	332	A>S		No	ExAC TOPMed gnomAD
rs759135705	332	A>T		No	ExAC TOPMed gnomAD
rs776252545	332	A>V		No	ExAC gnomAD
rs2149225974	333	S>*		No	Ensembl
rs2149225974	333	S>L		No	Ensembl
rs2149225935	334	T>I		No	Ensembl
rs2149225954	334	T>P		No	Ensembl
TCGA novel rs2149225954	334	T>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2149225935	334	T>S		No	Ensembl
rs1212449572	335	S>C		No	TOPMed gnomAD
rs1212449572	335	S>F		No	TOPMed gnomAD
rs1256844318	335	S>P		No	gnomAD
rs1256844318	335	S>T		No	gnomAD
rs1212449572	335	S>Y		No	TOPMed gnomAD
rs2149225870	336	C>F		No	Ensembl
rs2149225882	336	C>R		No	Ensembl
rs2149225882	336	C>S		No	Ensembl
rs2149225870	336	C>S		No	Ensembl
rs2149225854	337	V>D		No	Ensembl
rs1344787733	337	V>F		No	TOPMed gnomAD
rs1344787733	337	V>L		No	TOPMed gnomAD
rs2149225792	338	C>*		No	Ensembl
rs2149225828	338	C>R		No	Ensembl
rs2149225828	338	C>S		No	Ensembl
rs2149225816	338	C>S		No	Ensembl
rs2149225792	338	C>W		No	Ensembl
rs2149225816	338	C>Y		No	Ensembl
rs2149225781 COSM1310197	339	E>K	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2149225781	339	E>Q		No	Ensembl
rs2149225769	340	K>*		No	Ensembl
rs2149225757	340	K>M		No	Ensembl
TCGA novel	340	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2149225757	340	K>R		No	Ensembl
COSM4125560 rs2149225711	341	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2149225739	341	D>H		No	Ensembl
rs2149225739	341	D>N		No	Ensembl
rs1731829036	341	D>V		No	Ensembl
rs2149225739	341	D>Y		No	Ensembl
rs2149225695	342	Y>*		No	Ensembl
rs2149225703	342	Y>N		No	Ensembl
rs2149225685	343	F>C		No	Ensembl
rs2149225688	343	F>I		No	Ensembl
rs1731828750	344	R>G		No	gnomAD
rs761254180	344	R>K		No	ExAC gnomAD
COSM3974979 rs761254180	344	R>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC gnomAD
rs1352856592	344	R>S		No	gnomAD
COSM1430553 rs761254180	344	R>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC gnomAD
rs1731828750	344	R>W		No	gnomAD
rs2149225639	345	R>*		No	Ensembl
rs2149225627 COSM4992171	345	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2149225627	345	R>T		No	Ensembl
rs2149225610	346	E>*		No	Ensembl
rs2149225589	346	E>D		No	Ensembl
rs2149225610 COSM3604957	346	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2149225610	346	E>Q		No	Ensembl
rs2149225602	346	E>V		No	Ensembl
rs2149225568	347	S>C		No	Ensembl
rs2149225568	347	S>F		No	Ensembl
rs2149225578	347	S>T		No	Ensembl
rs200932017	348	D>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1393822869	348	D>E		No	gnomAD
rs2149225545	348	D>H		No	Ensembl
rs2149225545	348	D>N		No	Ensembl
rs200932017	348	D>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1400810776	349	P>A		No	gnomAD
rs1303114412	349	P>L		No	gnomAD
rs1303114412	349	P>Q		No	gnomAD
rs1303114412	349	P>R		No	gnomAD
rs1400810776	349	P>S		No	gnomAD
rs1400810776	349	P>T		No	gnomAD
rs1731825225	350	P>A		No	TOPMed
rs772410607	350	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs772410607	350	P>L		No	ExAC gnomAD
rs772410607	350	P>R		No	ExAC gnomAD
rs1731825225	350	P>S		No	TOPMed
rs1731825225	350	P>T		No	TOPMed
rs748346635	351	T>A		No	ExAC gnomAD
rs1158129685	351	T>I		No	gnomAD
rs1158129685	351	T>K		No	gnomAD
rs1158129685	351	T>R		No	gnomAD
rs2149225403	352	M>I		No	Ensembl
rs768735377	352	M>K		No	ExAC TOPMed gnomAD
rs768735377	352	M>R		No	ExAC TOPMed gnomAD
rs768735377	352	M>T		No	ExAC TOPMed gnomAD
rs369361168	352	M>V		No	ESP ExAC TOPMed gnomAD
rs2149225372	353	A>G		No	Ensembl
rs749407771	353	A>P		No	ExAC gnomAD
rs749407771	353	A>S		No	ExAC gnomAD
COSM194407 rs749407771	353	A>T	large_intestine [Cosmic]	No	cosmic curated ExAC gnomAD
rs2149225372	353	A>V		No	Ensembl
rs2149225361	354	C>S		No	Ensembl
rs2149225349	354	C>S		No	Ensembl
rs2149225335	354	C>W		No	Ensembl
rs2149225349	354	C>Y		No	Ensembl
rs780101856	355	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs2149225310	355	T>I		No	Ensembl
rs780101856	355	T>P		No	ExAC gnomAD
rs2149225310	355	T>R		No	Ensembl
rs780101856	355	T>S		No	ExAC gnomAD
rs757242674	356	R>G		No	ExAC TOPMed gnomAD
rs943944162	356	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2149214667	356	R>S		No	Ensembl
rs2149214658	357	P>A		No	Ensembl
rs1321339471 COSM3946507	357	P>H	lung [Cosmic]	No	cosmic curated gnomAD
rs1321339471	357	P>L		No	gnomAD
rs1321339471	357	P>R		No	gnomAD
rs2149214658	357	P>S		No	Ensembl
rs2149214658	357	P>T		No	Ensembl
rs762220456	358	P>A		No	ExAC gnomAD
rs2149214624	358	P>H		No	Ensembl
rs2149214624	358	P>L		No	Ensembl
rs2149214624	358	P>R		No	Ensembl
rs762220456	358	P>S		No	ExAC gnomAD
rs1427926861	359	S>C		No	gnomAD
TCGA novel rs1427926861	359	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
TCGA novel COSM4611815	359	S>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA NCI-TCGA Cosmic
rs2149214584	360	A>G		No	Ensembl
TCGA novel rs2149214597	360	A>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2149214597	360	A>S		No	Ensembl
rs2149214597	360	A>T		No	Ensembl
rs2149214584	360	A>V		No	Ensembl
rs2149214573	361	P>A		No	Ensembl
COSM4923865	361	P>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2149214573	361	P>S		No	Ensembl
rs764384268	362	R>G		No	ExAC TOPMed gnomAD
rs763166233	362	R>L		No	ExAC gnomAD
rs763166233	362	R>P		No	ExAC gnomAD
rs763166233	362	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs764384268	362	R>W		No	ExAC TOPMed gnomAD
rs2149214525	363	N>I		No	Ensembl
rs2149214517	363	N>K		No	Ensembl
rs2149214525	363	N>S		No	Ensembl
rs2149214535	363	N>Y		No	Ensembl
rs1731320439	364	A>D		No	TOPMed
rs1731320439	364	A>G		No	TOPMed
rs2149214508	364	A>P		No	Ensembl
rs2149214508	364	A>T		No	Ensembl
rs1731320439	364	A>V		No	TOPMed
rs2149214474	365	I>M		No	Ensembl
rs2149214482	365	I>T		No	Ensembl
rs372046653	365	I>V		No	ESP TOPMed
rs1731319564	366	S>L		No	gnomAD
rs2149214463	366	S>T		No	Ensembl
rs2149214419	367	N>K		No	Ensembl
rs2149214437	367	N>S		No	Ensembl
rs2149214443	367	N>Y		No	Ensembl
rs2149214397	368	V>A		No	Ensembl
rs2149214397	368	V>D		No	Ensembl
rs2149214406	368	V>L		No	Ensembl
rs1376342600	369	N>H		No	gnomAD
rs775641244	369	N>K		No	ExAC gnomAD
rs769982841	370	E>*		No	ExAC gnomAD
rs1578239223	370	E>D		No	Ensembl
rs2149214354	370	E>G		No	Ensembl
rs769982841	370	E>K		No	ExAC gnomAD
rs769982841	370	E>Q		No	ExAC gnomAD
rs2149214354	370	E>V		No	Ensembl
rs2149214339	371	T>A		No	Ensembl
rs2149214330	371	T>I		No	Ensembl
rs2149214330	371	T>S		No	Ensembl
rs2149214339	371	T>S		No	Ensembl
rs2149214320	372	S>C		No	Ensembl
rs759654080	372	S>I		No	ExAC gnomAD
rs759654080	372	S>N		No	ExAC gnomAD
rs776571368	372	S>R		No	ExAC gnomAD
rs759654080	372	S>T		No	ExAC gnomAD
rs2149214283	373	V>D		No	Ensembl
rs1481815437	373	V>F		No	gnomAD
rs1481815437	373	V>I		No	gnomAD
rs1481815437	373	V>L		No	gnomAD
rs2149214260	374	F>I		No	Ensembl
rs2149214260	374	F>L		No	Ensembl
rs932576650	374	F>L		No	Ensembl
rs2149214248	374	F>S		No	Ensembl
rs2149214224	375	L>P		No	Ensembl
rs2149214224	375	L>Q		No	Ensembl
rs1731316315	375	L>V		No	Ensembl
rs2149214198	376	E>*		No	Ensembl
rs2149214193	376	E>D		No	Ensembl
rs2149214198	376	E>K		No	Ensembl
rs2149214198	376	E>Q		No	Ensembl
rs2149214164	377	W>*		No	Ensembl
rs2149214171	377	W>*		No	Ensembl
rs2149214164	377	W>C		No	Ensembl
rs2149214184	377	W>G		No	Ensembl
rs2149214171	377	W>L		No	Ensembl
rs2149214184	377	W>R		No	Ensembl
rs2149214171	377	W>S		No	Ensembl
rs2149214151	378	I>N		No	Ensembl
rs2149214151	378	I>S		No	Ensembl
rs2149214151	378	I>T		No	Ensembl
rs1731316042	379	P>A		No	gnomAD
rs772108237	379	P>L		No	ExAC TOPMed gnomAD
COSM588049 rs772108237	379	P>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC TOPMed gnomAD
rs772108237	379	P>R		No	ExAC TOPMed gnomAD
rs1731316042	379	P>S		No	gnomAD
rs1731316042	379	P>T		No	gnomAD
rs199650353	380	P>A		No	1000Genomes ExAC TOPMed gnomAD
rs199650353	380	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs2149214085	381	A>D		No	Ensembl
rs2149214085	381	A>G		No	Ensembl
rs1424484338	381	A>S		No	gnomAD
rs2149214085	381	A>V		No	Ensembl
rs1731314236	382	D>E		No	Ensembl
rs2149214048	382	D>G		No	Ensembl
rs2149214063	382	D>H		No	Ensembl
rs2149214063	382	D>N		No	Ensembl
rs2149214048	382	D>V		No	Ensembl
rs2149214063	382	D>Y		No	Ensembl
rs1331418601	383	T>A		No	TOPMed gnomAD
rs1436439294	383	T>I		No	TOPMed gnomAD
rs1331418601	383	T>P		No	TOPMed gnomAD
rs1331418601	383	T>S		No	TOPMed gnomAD
rs1436439294	383	T>S		No	TOPMed gnomAD
rs2149214002	384	G>A		No	Ensembl
rs2149214011	384	G>C		No	Ensembl
rs2149214002	384	G>D		No	Ensembl
rs2149214011	384	G>R		No	Ensembl
rs2149214011	384	G>S		No	Ensembl
rs2149214002	384	G>V		No	Ensembl
rs2149213990	385	G>*		No	Ensembl
rs2149213981	385	G>E		No	Ensembl
rs2149213990	385	G>R		No	Ensembl
rs2149213981	385	G>V		No	Ensembl
rs2149213979	386	R>G		No	Ensembl
rs2149213972	386	R>K		No	Ensembl
rs2149213972	386	R>M		No	Ensembl
rs2149213963	386	R>S		No	Ensembl
rs2149213972	386	R>T		No	Ensembl
rs2149213959	387	K>*		No	Ensembl
rs573332307	388	D>E		No	1000Genomes ExAC TOPMed gnomAD
rs2149213949	388	D>V		No	Ensembl
rs2149213955	388	D>Y		No	Ensembl
rs2149213930	389	V>A		No	Ensembl
rs2149213930	389	V>E		No	Ensembl
rs2149213930	389	V>G		No	Ensembl
rs553493695	389	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs553493695	389	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs1301461151	390	S>*		No	TOPMed gnomAD
rs755793306	390	S>A		No	ExAC TOPMed gnomAD
rs1301461151	390	S>L		No	TOPMed gnomAD
rs755793306	390	S>P		No	ExAC TOPMed gnomAD
rs755793306	390	S>T		No	ExAC TOPMed gnomAD
rs2149213874	391	Y>C		No	Ensembl
rs2149213891	391	Y>D		No	Ensembl
rs2149213874	391	Y>F		No	Ensembl
rs2149213891	391	Y>H		No	Ensembl
rs2149213891	391	Y>N		No	Ensembl
rs1731310820	392	Y>*		No	TOPMed
TCGA novel	392	Y>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1731311096	392	Y>H		No	gnomAD
rs1731311096	392	Y>N		No	gnomAD
rs2149213853	393	I>F		No	Ensembl
rs780551761	393	I>S		No	ExAC TOPMed gnomAD
rs780551761	393	I>T		No	ExAC TOPMed gnomAD
rs2149213819	394	A>G		No	Ensembl
rs965251708	394	A>P		No	TOPMed gnomAD
rs965251708	394	A>S		No	TOPMed gnomAD
rs965251708	394	A>T		No	TOPMed gnomAD
rs2149213819	394	A>V		No	Ensembl
rs2149213791	395	C>F		No	Ensembl
rs2149213801	395	C>R		No	Ensembl
rs2149213791	395	C>S		No	Ensembl
rs2149213801	395	C>S		No	Ensembl
rs2149213791 TCGA novel	395	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1021419209	396	K>E		No	Ensembl
rs2149213771	396	K>M		No	Ensembl
rs2149213760	396	K>N		No	Ensembl
rs2149213771	396	K>R		No	Ensembl
rs2149213752	397	K>E		No	Ensembl
rs751943818	397	K>M		No	ExAC TOPMed gnomAD
COSM6167739 COSM1540533 rs1180698265	397	K>N	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic gnomAD
rs751943818	397	K>R		No	ExAC TOPMed gnomAD
rs751943818	397	K>T		No	ExAC TOPMed gnomAD
rs1250509846	398	C>F		No	gnomAD
rs764464416	398	C>G		No	ExAC gnomAD
rs764464416	398	C>R		No	ExAC gnomAD
rs764464416	398	C>S		No	ExAC gnomAD
rs1250509846	398	C>S		No	gnomAD
rs2149213703	398	C>W		No	Ensembl
rs1250509846	398	C>Y		No	gnomAD
rs2149213693	399	N>D		No	Ensembl
rs2149213693	399	N>H		No	Ensembl
rs763357137	399	N>I		No	ExAC TOPMed gnomAD
rs1731307740	399	N>K		No	Ensembl
rs763357137	399	N>S		No	ExAC TOPMed gnomAD
rs763357137	399	N>T		No	ExAC TOPMed gnomAD
rs2149213693	399	N>Y		No	Ensembl
rs2149213659	400	S>C		No	Ensembl
rs2149213659	400	S>F		No	Ensembl
rs2149213667	400	S>P		No	Ensembl
rs2149213667	400	S>T		No	Ensembl
rs2149213627	401	H>D		No	Ensembl
rs2149213627	401	H>N		No	Ensembl
rs372600904	401	H>P		No	Ensembl
rs1731307211	401	H>Q		No	Ensembl
rs2149213627	401	H>Y		No	Ensembl
rs1731306625 COSM1056645	402	A>E	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs1731306625	402	A>G		No	TOPMed
rs753030165	402	A>P		No	ExAC TOPMed gnomAD
rs753030165	402	A>S		No	ExAC TOPMed gnomAD
rs753030165	402	A>T		No	ExAC TOPMed gnomAD
rs1731306625	402	A>V		No	TOPMed
rs539105044	403	G>C		No	1000Genomes ExAC TOPMed gnomAD
rs539105044	403	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs2149213545	404	V>A		No	Ensembl
rs2149213545	404	V>E		No	Ensembl
rs2149213545	404	V>G		No	Ensembl
rs2149213556	404	V>L		No	Ensembl
rs2149213556	404	V>M		No	Ensembl
rs2149213509	405	C>*		No	Ensembl
rs1345496348	405	C>F		No	gnomAD
rs1345496348	405	C>S		No	gnomAD
rs2149213524	405	C>S		No	Ensembl
rs2149213509	405	C>W		No	Ensembl
rs1345496348	405	C>Y		No	gnomAD
rs2149213502	406	E>*		No	Ensembl
rs2149213502	406	E>K		No	Ensembl
rs2149213502	406	E>Q		No	Ensembl
TCGA novel	406	E>V	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1191543999	407	E>D		No	TOPMed
rs2149213488	407	E>G		No	Ensembl
rs2149213488	407	E>V		No	Ensembl
rs2149213445	408	C>*		No	Ensembl
rs2149213453	408	C>F		No	Ensembl
rs2149213461	408	C>G		No	Ensembl
rs2149213461	408	C>R		No	Ensembl
rs2149213453	408	C>S		No	Ensembl
rs2149213461	408	C>S		No	Ensembl
rs2149213445	408	C>W		No	Ensembl
rs2149213453	408	C>Y		No	Ensembl
rs201779427	409	G>D		No	1000Genomes ESP ExAC TOPMed gnomAD
rs776788978	409	G>R		No	ExAC TOPMed gnomAD
rs776788978	409	G>S		No	ExAC TOPMed gnomAD
rs2149213399	410	G>A		No	Ensembl
rs200754741	410	G>C		No	1000Genomes ExAC TOPMed gnomAD
rs2149213399	410	G>D		No	Ensembl
rs200754741	410	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs200754741	410	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs988283600	411	H>D		No	Ensembl
rs2149213366	411	H>L		No	Ensembl
rs988283600	411	H>N		No	Ensembl
rs2149213366	411	H>P		No	Ensembl
rs779988410	411	H>Q		No	ExAC TOPMed gnomAD
rs988283600	411	H>Y		No	Ensembl
rs769625548	412	V>A		No	ExAC TOPMed gnomAD
rs769625548 COSM1486043	412	V>D	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD
rs1338727571	412	V>F		No	gnomAD
rs769625548	412	V>G		No	ExAC TOPMed gnomAD
rs1338727571	412	V>I		No	gnomAD
rs1338727571	412	V>L		No	gnomAD
rs1415226499 COSM3702624	413	R>G	liver [Cosmic]	No	cosmic curated TOPMed gnomAD
rs745452853	413	R>K		No	ExAC gnomAD
rs745452853	413	R>M		No	ExAC gnomAD
rs780756647	413	R>S		No	ExAC TOPMed gnomAD
rs745452853	413	R>T		No	ExAC gnomAD
rs1415226499	413	R>W		No	TOPMed gnomAD
rs2149213260	414	Y>*		No	Ensembl
rs756682143	414	Y>D		No	ExAC gnomAD
rs2149213277	414	Y>F		No	Ensembl
rs756682143	414	Y>H		No	ExAC gnomAD
rs756682143	414	Y>N		No	ExAC gnomAD
rs2149213277	414	Y>S		No	Ensembl
rs746506231	415	L>F		No	ExAC gnomAD
rs2149213254	415	L>H		No	Ensembl
rs2149213254	415	L>P		No	Ensembl
rs2149213254	415	L>R		No	Ensembl
rs746506231	415	L>V		No	ExAC gnomAD
rs2149213222	416	P>H		No	Ensembl
rs2149213222	416	P>L		No	Ensembl
rs2149213222	416	P>R		No	Ensembl
rs202046693	417	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs199614818	417	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs199614818	417	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs199614818 VAR_042141 COSM12828	417	R>Q	lung a lung adenocarcinoma sample; somatic mutation [Cosmic, UniProt]	No	cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs202046693 COSM5866614	417	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs2149213183	418	Q>*		No	Ensembl
rs2149213183	418	Q>E		No	Ensembl
rs2149213167	418	Q>H		No	Ensembl
TCGA novel	418	Q>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2149213176	418	Q>L		No	Ensembl
rs2149213160	419	S>C		No	Ensembl
rs2149213160	419	S>G		No	Ensembl
rs2149213150	419	S>I		No	Ensembl
rs2149213150	419	S>N		No	Ensembl
rs753971619	419	S>R		No	ExAC TOPMed gnomAD
rs2149213150	419	S>T		No	Ensembl
rs1731298509	420	G>A		No	TOPMed
rs370503988	420	G>C		No	ESP ExAC TOPMed gnomAD
rs1731298509	420	G>D		No	TOPMed
rs370503988	420	G>R		No	ESP ExAC TOPMed gnomAD
rs370503988 COSM170564	420	G>S	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1731298509	420	G>V		No	TOPMed
rs2149213101 COSM734984	421	L>M	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2149213082	421	L>P		No	Ensembl
rs2149213082	421	L>Q		No	Ensembl
rs2149213101	421	L>V		No	Ensembl
rs2149213062	422	K>*		No	Ensembl
rs2149213062	422	K>E		No	Ensembl
rs138620350	422	K>I		No	ESP ExAC TOPMed gnomAD
rs2149213049	422	K>N		No	Ensembl
rs2149213062	422	K>Q		No	Ensembl
rs2149213037	423	N>D		No	Ensembl
rs2149213037	423	N>H		No	Ensembl
rs1328176132	423	N>I		No	gnomAD
rs2149213019	423	N>K		No	1000Genomes
rs1328176132	423	N>S		No	gnomAD
rs1328176132	423	N>T		No	gnomAD
TCGA novel	423	N>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2149213037	423	N>Y		No	Ensembl
rs2149213004	424	T>A		No	Ensembl
rs1731296551	424	T>N		No	Ensembl
rs2149213004	424	T>P		No	Ensembl
rs2149213004	424	T>S		No	Ensembl
rs2149212971	425	S>C		No	Ensembl
rs2149212971	425	S>F		No	Ensembl
rs775436631	425	S>P		No	ExAC gnomAD
rs775436631	425	S>T		No	ExAC gnomAD
rs2149212971	425	S>Y		No	Ensembl
rs2149212955	426	V>D		No	Ensembl
rs371755476	426	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs371755476	426	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs2149212924	427	M>I		No	Ensembl
rs1011855504	427	M>K		No	TOPMed gnomAD
rs1283671186	427	M>L		No	TOPMed gnomAD
rs1011855504	427	M>R		No	TOPMed gnomAD
rs1011855504	427	M>T		No	TOPMed gnomAD
rs1560599931	428	M>I		No	Ensembl
rs2149212916	428	M>L		No	Ensembl
rs1014130945	428	M>T		No	TOPMed gnomAD
rs2149212916	428	M>V		No	Ensembl
rs1385284578	429	V>L		No	gnomAD
rs1385284578	429	V>M		No	gnomAD
rs1194255172	430	D>E		No	TOPMed gnomAD
rs745565792	430	D>H		No	ExAC TOPMed gnomAD
rs745565792	430	D>N		No	ExAC TOPMed gnomAD
rs1731293275	430	D>V		No	TOPMed
rs745565792	430	D>Y		No	ExAC TOPMed gnomAD
COSM3946503 rs1731292719	431	L>I	lung [Cosmic]	No	cosmic curated TOPMed gnomAD
rs2149212831	431	L>P		No	Ensembl
rs2149212831	431	L>Q		No	Ensembl
rs1731292719	431	L>V		No	TOPMed gnomAD
rs2149212818	432	L>F		No	Ensembl
rs2149212814	432	L>H		No	Ensembl
rs2149212818	432	L>V		No	Ensembl
rs2149212789	433	A>G		No	Ensembl
rs770587480	433	A>P		No	ExAC gnomAD
rs770587480	433	A>S		No	ExAC gnomAD
COSM1056643 rs770587480	433	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs2149212789	433	A>V		No	Ensembl
rs1161959870	434	H>D		No	TOPMed gnomAD
rs2149212755	434	H>L		No	Ensembl
rs746568518	434	H>Q		No	ExAC TOPMed gnomAD
rs1161959870	434	H>Y		No	TOPMed gnomAD
rs2149212735	435	T>A		No	Ensembl
rs1187298688	435	T>I		No	TOPMed gnomAD
rs1187298688	435	T>K		No	TOPMed gnomAD
rs1187298688	435	T>R		No	TOPMed gnomAD
rs2149212735	435	T>S		No	Ensembl
rs2149212710	436	N>I		No	Ensembl
rs2149212701	436	N>K		No	Ensembl
rs1476456862	437	Y>*		No	TOPMed
rs2149212689	437	Y>F		No	Ensembl
rs2149212694	437	Y>N		No	Ensembl
rs2149212681	438	T>A		No	Ensembl
rs777249988 COSM3940915	438	T>I	oesophagus [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs2149212681	438	T>P		No	Ensembl
rs2149212681	438	T>S		No	Ensembl
rs777249988	438	T>S		No	ExAC TOPMed gnomAD
rs2149212651	439	F>I		No	Ensembl
rs1354263562	439	F>L		No	TOPMed gnomAD
rs2149212631	440	E>*		No	Ensembl
TCGA novel	440	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2149212631	440	E>K		No	Ensembl
rs2149212631	440	E>Q		No	Ensembl
rs2149212627	440	E>V		No	Ensembl
rs2149212624	441	I>F		No	Ensembl
rs1162142172	441	I>N		No	gnomAD
rs1162142172	441	I>T		No	gnomAD
rs2149212604	442	E>G		No	Ensembl
rs2149212610	442	E>K		No	Ensembl
rs2149212610	442	E>Q		No	Ensembl
rs2149212604	442	E>V		No	Ensembl
COSM588051	443	A>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2149212566	443	A>G		No	Ensembl
rs2149212583	443	A>P		No	Ensembl
rs2149212583	443	A>S		No	Ensembl
rs2149212583	443	A>T		No	Ensembl
rs2149212566	443	A>V		No	Ensembl
rs1244629027	444	V>A		No	gnomAD
rs1244629027	444	V>E		No	gnomAD
rs2149212548	444	V>L		No	Ensembl
rs2149212548	444	V>M		No	Ensembl
rs2149212503	445	N>I		No	Ensembl
rs2149212496	445	N>K		No	Ensembl
rs2149212503	445	N>S		No	Ensembl
rs2149212513	445	N>Y		No	Ensembl
rs2149212488	446	G>*		No	Ensembl
rs1731288544	446	G>A		No	Ensembl
rs1731288544	446	G>E		No	Ensembl
rs2149212488	446	G>R		No	Ensembl
rs2149212469	447	V>E		No	Ensembl
rs1731287995	447	V>L		No	Ensembl
rs1731287995	447	V>M		No	Ensembl
rs2149212443	448	S>A		No	Ensembl
rs755244842	448	S>C		No	ExAC gnomAD
TCGA novel rs755244842	448	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA ExAC gnomAD
rs2149212443	448	S>P		No	Ensembl
rs2149212443	448	S>T		No	Ensembl
rs755244842	448	S>Y		No	ExAC gnomAD
rs1367590086	449	D>A		No	gnomAD
rs1228970137	449	D>E		No	gnomAD
COSM402458 rs370633345	449	D>H	lung [Cosmic]	No	cosmic curated ESP TOPMed gnomAD
rs370633345	449	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP NCI-TCGA TOPMed gnomAD
rs1367590086	449	D>V		No	gnomAD
rs1731285587	450	L>*		No	Ensembl
TCGA novel rs1295711230	450	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	gnomAD NCI-TCGA
rs142589245	450	L>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1731285587	450	L>S		No	Ensembl
rs142589245 COSM1251307	450	L>V	oesophagus [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1731285587	450	L>W		No	Ensembl
rs2149212355	451	S>C		No	Ensembl
rs2149212355	451	S>G		No	Ensembl
rs1227900265	451	S>I		No	gnomAD
rs1227900265	451	S>N		No	gnomAD
rs2149212324	451	S>R		No	Ensembl
rs1227900265	451	S>T		No	gnomAD
rs2149212317	452	P>A		No	Ensembl
rs2149212306	452	P>L		No	Ensembl
rs2149212306	452	P>Q		No	Ensembl
rs2149212306	452	P>R		No	Ensembl
rs2149212317	452	P>S		No	Ensembl
rs2149212317	452	P>T		No	Ensembl
rs2149212289	453	G>*		No	Ensembl
rs2149212280	453	G>E		No	Ensembl
rs2149212289	453	G>R		No	Ensembl
rs1731284202 COSM94201	454	A>D	lung [Cosmic]	No	cosmic curated TOPMed gnomAD
rs1731284202	454	A>G		No	TOPMed gnomAD
rs1290982378	454	A>P		No	gnomAD
rs1290982378	454	A>S		No	gnomAD
rs1290982378	454	A>T		No	gnomAD
rs1731284202	454	A>V		No	TOPMed gnomAD
rs756357402	455	R>G		No	ExAC TOPMed gnomAD
rs1349813115	455	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs756357402	455	R>W		No	ExAC TOPMed gnomAD
rs2149212200	456	Q>*		No	Ensembl
rs2149212200	456	Q>E		No	Ensembl
rs2149212185	456	Q>H		No	Ensembl
rs2149212200	456	Q>K		No	Ensembl
rs1324736216	456	Q>P		No	gnomAD
rs1731282892	457	Y>*		No	TOPMed
rs750591600	457	Y>D		No	ExAC gnomAD
rs2149212167	457	Y>F		No	Ensembl
rs750591600	457	Y>H		No	ExAC gnomAD
rs750591600	457	Y>N		No	ExAC gnomAD
rs2149212167	457	Y>S		No	Ensembl
rs2149212143	458	V>E		No	Ensembl
TCGA novel rs2149212152	458	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs2149212152	458	V>M		No	Ensembl
rs2149212112	459	S>C		No	Ensembl
rs2149212112	459	S>F		No	Ensembl
rs2149212121	459	S>P		No	Ensembl
rs2149212121	459	S>T		No	Ensembl
rs543319733	460	V>A		No	1000Genomes
rs543319733	460	V>E		No	1000Genomes
rs543319733	460	V>G		No	1000Genomes
rs1386534029	460	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1386534029	460	V>L		No	TOPMed gnomAD
rs2149212066	461	N>S		No	Ensembl
COSM1131081 rs2149212036	462	V>E	prostate [Cosmic]	No	cosmic curated Ensembl
rs2149212040	462	V>I		No	Ensembl
rs2149212040	462	V>L		No	Ensembl
rs2149212014	463	T>A		No	Ensembl
rs1731280430	463	T>I		No	gnomAD
rs1731280430	463	T>N		No	gnomAD
rs2149212014	463	T>P		No	Ensembl
rs2149212014	463	T>S		No	Ensembl
rs1731280430	463	T>S		No	gnomAD
rs2149211984	464	T>K		No	Ensembl
rs2149211984	464	T>R		No	Ensembl
rs2149211973	465	N>I		No	Ensembl
rs2149211965	465	N>K		No	Ensembl
rs2149211973	465	N>S		No	Ensembl
rs2149211952	466	Q>*		No	Ensembl
rs2149211952	466	Q>E		No	Ensembl
rs2149211940	466	Q>H		No	Ensembl
rs2149211952	466	Q>K		No	Ensembl
rs2149211948	466	Q>L		No	Ensembl
rs2149211925	467	A>E		No	Ensembl
rs2149211925	467	A>G		No	Ensembl
rs1420039250	467	A>P		No	TOPMed gnomAD
rs1420039250	467	A>T		No	TOPMed gnomAD
rs2149211925	467	A>V		No	Ensembl
rs2149211904	468	A>P		No	Ensembl
rs2149211904	468	A>S		No	Ensembl
rs2149211904	468	A>T		No	Ensembl
rs2149037522	468	A>V		No	Ensembl
rs2149037504	469	P>A		No	Ensembl
rs372519544	469	P>L		No	ESP ExAC gnomAD
rs2149037504	469	P>S		No	Ensembl
rs1288201384	470	S>C		No	TOPMed gnomAD
rs1288201384	470	S>F		No	TOPMed gnomAD
rs1349192633	470	S>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1349192633	470	S>T		No	TOPMed gnomAD
rs915451850	471	P>A		No	TOPMed gnomAD
rs143584300	471	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs915451850	471	P>S		No	TOPMed gnomAD
rs915451850	471	P>T		No	TOPMed gnomAD
rs374481112	472	V>D		No	ESP ExAC TOPMed gnomAD
rs374481112	472	V>G		No	ESP ExAC TOPMed gnomAD
rs771686308	472	V>I		No	ExAC TOPMed gnomAD
rs771686308	472	V>L		No	ExAC TOPMed gnomAD
rs1723848814	473	T>A		No	Ensembl
rs769104997 COSM481402	473	T>I	kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs769104997	473	T>N		No	ExAC TOPMed gnomAD
rs769104997	473	T>S		No	ExAC TOPMed gnomAD
rs1723848814	473	T>S		No	Ensembl
rs2149037345	474	N>K		No	Ensembl
rs762243037	474	N>S		No	ExAC TOPMed gnomAD
rs2149037358	474	N>Y		No	Ensembl
rs2149037314	475	V>E		No	Ensembl
rs780288067	475	V>L		No	ExAC TOPMed gnomAD
rs780288067	475	V>M		No	ExAC TOPMed gnomAD
COSM4125557 rs2149037284	476	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
COSM194391 rs1409702027	476	K>N	large_intestine [Cosmic]	No	cosmic curated gnomAD
rs2149037255	477	K>N		No	Ensembl
rs2149037232	478	G>A		No	Ensembl
rs2149037232	478	G>E		No	Ensembl
rs2149037246	478	G>R		No	Ensembl
TCGA novel	478	G>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2149037232	478	G>V		No	Ensembl
rs1181298755	479	K>Q		No	gnomAD
rs2149037203	480	I>F		No	Ensembl
TCGA novel	480	I>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2149037195	480	I>T		No	Ensembl
rs2149037162	481	A>E		No	Ensembl
rs2149037162	481	A>G		No	Ensembl
rs1723846467	481	A>P		No	Ensembl
rs1723846467	481	A>T		No	Ensembl
rs2149037162	481	A>V		No	Ensembl
rs1229443873	483	N>I		No	TOPMed gnomAD
TCGA novel	483	N>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM1056641 rs1229443873	483	N>S	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs2149037107	484	S>C		No	Ensembl
rs746116670	484	S>I		No	ExAC TOPMed gnomAD
rs746116670	484	S>N		No	ExAC TOPMed gnomAD
rs1723844875	484	S>R		No	Ensembl
rs746116670	484	S>T		No	ExAC TOPMed gnomAD
rs2149037056	485	I>M		No	Ensembl
rs2149037068	485	I>N		No	Ensembl
rs2149037068	485	I>T		No	Ensembl
rs1723844601	485	I>V		No	TOPMed
rs1723844235	486	S>C		No	TOPMed
rs1723844235	486	S>F		No	TOPMed
rs2149037023	487	L>*		No	Ensembl
rs2149037008	487	L>F		No	Ensembl
rs1483040945	487	L>M		No	gnomAD
rs1483040945	487	L>V		No	gnomAD
rs2149036992	488	S>C		No	Ensembl
rs2149036992	488	S>F		No	Ensembl
rs2149037002	488	S>T		No	Ensembl
rs2149036950 COSM224257	489	W>*	skin [Cosmic]	No	cosmic curated Ensembl
rs370102571 COSM224257	489	W>*	skin [Cosmic]	No	cosmic curated ESP ExAC gnomAD
rs2149036950	489	W>C		No	Ensembl
rs1723843488	489	W>G		No	TOPMed
rs370102571	489	W>L		No	ESP ExAC gnomAD
rs1723843488	489	W>R		No	TOPMed
rs370102571	489	W>S		No	ESP ExAC gnomAD
rs2149036932	490	Q>*		No	Ensembl
rs2149036932	490	Q>E		No	Ensembl
rs2149036932	490	Q>K		No	Ensembl
rs2149036915	491	E>*		No	Ensembl
rs2149036893	491	E>D		No	Ensembl
rs2149036915	491	E>K		No	Ensembl
rs2149036915	491	E>Q		No	Ensembl
rs2149036911	491	E>V		No	Ensembl
rs2149036878	492	P>A		No	Ensembl
rs2149036870 COSM194390	492	P>R	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs2149036878	492	P>S		No	Ensembl
rs757548047	493	D>E		No	ExAC TOPMed gnomAD
rs2149036858	493	D>H		No	Ensembl
rs2149036858	493	D>N		No	Ensembl
rs2149036846	493	D>V		No	Ensembl
rs2149036858 COSM48338	493	D>Y	lung [Cosmic]	No	cosmic curated Ensembl
rs138678484	494	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs138678484	494	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs777851171	494	R>H		No	ExAC TOPMed gnomAD
rs777851171	494	R>L		No	ExAC TOPMed gnomAD
rs777851171	494	R>P		No	ExAC TOPMed gnomAD
rs754873943	495	P>A		No	ExAC gnomAD
rs2149036756	495	P>H		No	Ensembl
rs2149036756	495	P>L		No	Ensembl
rs2149036756	495	P>R		No	Ensembl
rs754873943	495	P>S		No	ExAC gnomAD
rs754873943	495	P>T		No	ExAC gnomAD
rs1723840829	496	N>I		No	TOPMed
rs2149036721	496	N>K		No	Ensembl
rs1723840829	496	N>S		No	TOPMed
rs1317034903	497	G>*		No	gnomAD
rs2149036695	497	G>A		No	Ensembl
rs1317034903	497	G>R		No	gnomAD
rs377073108	498	I>M		No	ESP ExAC TOPMed gnomAD
rs2149036689	498	I>N		No	Ensembl
rs2149036661	499	I>F		No	Ensembl
rs2149036640	499	I>M		No	Ensembl
rs1406144425	499	I>N		No	TOPMed gnomAD
rs1406144425	499	I>T		No	TOPMed gnomAD
rs2149036661 COSM4125555	499	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
TCGA novel rs2149036624	500	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2149036608	500	L>P		No	Ensembl
rs2149036608	500	L>Q		No	Ensembl
rs2149036624	500	L>V		No	Ensembl
rs376952898	501	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1336932575	501	E>G		No	gnomAD
rs865985552	501	E>K		No	gnomAD
rs865985552	501	E>Q		No	gnomAD
rs1336932575	501	E>V		No	gnomAD
rs2149036554	502	Y>*		No	Ensembl
rs2149036541	503	E>*		No	Ensembl
COSM12829 VAR_042142 rs2149036541	503	E>K	lung a lung large cell carcinoma sample; somatic mutation [Cosmic, UniProt]	No	cosmic curated Ensembl UniProt
rs2149036541	503	E>Q		No	Ensembl
rs1723838022	504	I>M		No	Ensembl
rs2149036531	504	I>N		No	Ensembl
TCGA novel	505	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1386153568	505	K>M		No	gnomAD
rs750184259	505	K>N		No	ExAC TOPMed gnomAD
rs1386153568	505	K>R		No	gnomAD
TCGA novel	505	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
VAR_045912 rs56074660	506	Y>C		No	UniProt ExAC TOPMed dbSNP gnomAD
rs56074660	506	Y>F		No	ExAC TOPMed gnomAD
rs2149036488	506	Y>N		No	Ensembl
rs56074660	506	Y>S		No	ExAC TOPMed gnomAD
rs1723836678	507	F>I		No	gnomAD
rs2149036447	507	F>L		No	Ensembl
rs2149036453	507	F>Y		No	Ensembl
rs1723836031	508	E>G		No	TOPMed
rs1365668708	508	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1365668708	508	E>Q		No	gnomAD
rs2149036422	509	K>M		No	Ensembl
rs761446077	509	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs2149036422	509	K>R		No	Ensembl
rs2149020738	510	D>E		No	Ensembl
rs2149020761	510	D>H		No	Ensembl
rs2149020761	510	D>N		No	Ensembl
rs2149020761	510	D>Y		No	Ensembl
rs2149020717	511	Q>*		No	Ensembl
rs2149020717	511	Q>E		No	Ensembl
rs1384953400	511	Q>H		No	TOPMed
rs2149020702 COSM353290	511	Q>L	lung [Cosmic]	No	cosmic curated Ensembl
rs921355985	512	E>D		No	Ensembl
TCGA novel	512	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1227927853	512	E>Q		No	gnomAD
rs1399006211	513	T>I		No	TOPMed gnomAD
rs2149020626	513	T>S		No	Ensembl
rs2149020551	514	S>I		No	Ensembl
rs2149020551	514	S>N		No	Ensembl
rs2149020518	514	S>R		No	Ensembl
rs2149020551	514	S>T		No	Ensembl
rs2149020446	515	Y>*		No	Ensembl
rs2149020464	515	Y>C		No	Ensembl
rs2149020464	515	Y>F		No	Ensembl
rs2149020490	515	Y>H		No	Ensembl
COSM3946502 rs2149020490	515	Y>N	lung [Cosmic]	No	cosmic curated Ensembl
rs2149020464	515	Y>S		No	Ensembl
rs2149020432	516	T>A		No	Ensembl
rs1327931544	516	T>K		No	TOPMed gnomAD
rs1327931544	516	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1327931544	516	T>R		No	TOPMed gnomAD
rs2149020432	516	T>S		No	Ensembl
rs2149020352	517	I>F		No	Ensembl
rs2149020335	517	I>N		No	Ensembl
TCGA novel rs2149020335	517	I>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2149020352	517	I>V		No	Ensembl
rs1404228429	518	I>L		No	gnomAD
rs2149020262	518	I>M		No	Ensembl
rs1723199328	518	I>N		No	TOPMed
rs1723199328	518	I>S		No	TOPMed
rs1723199328	518	I>T		No	TOPMed
rs747216262	519	K>*		No	1000Genomes ExAC gnomAD
rs747216262	519	K>E		No	1000Genomes ExAC gnomAD
rs2149020223	519	K>I		No	Ensembl
rs540728409	519	K>N		No	ExAC TOPMed gnomAD
rs747216262	519	K>Q		No	1000Genomes ExAC gnomAD
rs2149020181	520	S>A		No	Ensembl
rs2149020162	520	S>C		No	Ensembl
rs2149020162	520	S>F		No	Ensembl
rs2149020181	520	S>T		No	Ensembl
rs2149020132	521	K>*		No	Ensembl
rs2149020121	521	K>I		No	Ensembl
rs2149020099	521	K>N		No	Ensembl
rs1396077378	522	E>D		No	gnomAD
rs772150635	522	E>G		No	ExAC gnomAD
rs772150635	522	E>V		No	ExAC gnomAD
rs2149020059	523	T>A		No	Ensembl
rs201024355	523	T>I		No	1000Genomes ExAC gnomAD
rs201024355	523	T>K		No	1000Genomes ExAC gnomAD
rs201024355	523	T>R		No	1000Genomes ExAC gnomAD
rs2149020059	523	T>S		No	Ensembl
rs1347090820	524	T>A		No	TOPMed gnomAD
rs913936917	524	T>I		No	TOPMed gnomAD
rs913936917	524	T>N		No	TOPMed gnomAD
rs913936917	524	T>S		No	TOPMed gnomAD
rs1347090820	524	T>S		No	TOPMed gnomAD
rs750845809	525	I>F		No	ExAC TOPMed gnomAD
rs2149019976	525	I>N		No	Ensembl
rs2149019976	525	I>T		No	Ensembl
rs750845809	525	I>V		No	ExAC TOPMed gnomAD
rs745742609	526	T>I		No	ExAC gnomAD
rs756062097	526	T>S		No	ExAC gnomAD
rs745742609	526	T>S		No	ExAC gnomAD
rs1723195479	527	A>E		No	TOPMed
rs1723195479	527	A>G		No	TOPMed
rs2149019923	527	A>P		No	Ensembl
rs2149019923	527	A>S		No	Ensembl
rs2149019923	527	A>T		No	Ensembl
rs1723195479	527	A>V		No	TOPMed
rs142424482	528	E>D		No	ESP ExAC TOPMed gnomAD
rs2149019872	528	E>G		No	Ensembl
rs77407591	528	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD
RCV000961531 rs77407591	528	E>Q		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2149019872 COSM4153507	528	E>V	kidney [Cosmic]	No	cosmic curated Ensembl
rs2149019815	529	G>A		No	Ensembl
rs767723571	529	G>C		No	TOPMed
rs2149019815	529	G>D		No	Ensembl
rs767723571	529	G>R		No	TOPMed
rs767723571	529	G>S		No	TOPMed
rs2149019815	529	G>V		No	Ensembl
rs2149019747	530	L>F		No	Ensembl
rs2149019791	530	L>M		No	Ensembl
rs2149019771	530	L>S		No	Ensembl
rs2149019791	530	L>V		No	Ensembl
rs2149019771	530	L>W		No	Ensembl
rs2149019728	531	K>*		No	Ensembl
rs2149019716	531	K>I		No	Ensembl
rs2149019695	531	K>N		No	Ensembl
rs1206356192	532	P>A		No	TOPMed gnomAD
rs1723193436	532	P>L		No	Ensembl
rs1723193436	532	P>Q		No	Ensembl
rs1723193436	532	P>R		No	Ensembl
rs1206356192	532	P>S		No	TOPMed gnomAD
rs1206356192	532	P>T		No	TOPMed gnomAD
rs1200964751	533	A>D		No	gnomAD
rs1200964751	533	A>G		No	gnomAD
rs2149019651	533	A>P		No	Ensembl
rs2149019651	533	A>S		No	Ensembl
rs2149019651 TCGA novel	533	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1200964751	533	A>V		No	gnomAD
rs2149019553	534	S>*		No	Ensembl
rs2149019572	534	S>A		No	Ensembl
COSM3604955 rs2149019553	534	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2149019572	534	S>T		No	Ensembl
rs1271881572	535	V>D		No	gnomAD
rs2149019513	535	V>F		No	Ensembl
rs1271881572	535	V>G		No	gnomAD
rs2149019513	535	V>I		No	Ensembl
rs2149019513	535	V>L		No	Ensembl
rs1723191798	536	Y>*		No	gnomAD
rs1195999749	536	Y>C		No	gnomAD
rs2149019477	536	Y>N		No	Ensembl
rs2149019412	537	V>A		No	Ensembl
rs2149019412	537	V>D		No	Ensembl
rs2149019424	537	V>F		No	Ensembl
rs2149019424	537	V>I		No	Ensembl
rs2149019424	537	V>L		No	Ensembl
rs2149019379	538	F>I		No	Ensembl
rs2149019327	538	F>L		No	Ensembl
rs2149019354	538	F>S		No	Ensembl
rs2149019354	538	F>Y		No	Ensembl
rs2149019288	539	Q>*		No	Ensembl
rs2149019288	539	Q>E		No	Ensembl
rs2149019274	539	Q>H		No	Ensembl
rs2149019288	539	Q>K		No	Ensembl
rs1723191119	540	I>F		No	Ensembl
rs1723191119	540	I>L		No	Ensembl
rs2149019232	540	I>N		No	Ensembl
COSM1056639 rs1723190855	541	R>*	Variant assessed as Somatic; HIGH impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1723190855	541	R>G		No	Ensembl
rs1342407694	541	R>L		No	TOPMed gnomAD
rs1342407694	541	R>P		No	TOPMed gnomAD
rs1342407694 COSM4929605	541	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs1560511744	542	A>E		No	TOPMed
rs1560511744	542	A>G		No	TOPMed
rs1723190192	542	A>P		No	TOPMed gnomAD
rs1723190192	542	A>S		No	TOPMed gnomAD
rs1723190192 COSM5736980	542	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed gnomAD
rs1560511744	542	A>V		No	TOPMed
rs2149019047	543	R>C		No	Ensembl
rs2149019047	543	R>G		No	Ensembl
rs1254027522	543	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1254027522	543	R>L		No	TOPMed gnomAD
rs1254027522	543	R>P		No	TOPMed gnomAD
rs2149019047	543	R>S		No	Ensembl
rs1346069346	544	T>A		No	TOPMed gnomAD
rs2149018967	544	T>I		No	Ensembl
rs1346069346	544	T>P		No	TOPMed gnomAD
COSM332439 rs2149018967	544	T>R	lung [Cosmic]	No	cosmic curated Ensembl
rs1346069346	544	T>S		No	TOPMed gnomAD
rs2149018913	545	A>E		No	Ensembl
rs2149018913	545	A>G		No	Ensembl
rs760149987	545	A>P		No	ExAC gnomAD
rs760149987	545	A>T		No	ExAC gnomAD
rs2149018913	545	A>V		No	Ensembl
rs2149018859	546	A>G		No	Ensembl
rs1723188103	546	A>P		No	Ensembl
rs1723188103	546	A>S		No	Ensembl
rs1723188103	546	A>T		No	Ensembl
rs2149018859	546	A>V		No	Ensembl
rs754344980	547	G>A		No	ExAC gnomAD
COSM1056637 rs2149018836	547	G>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs754344980 COSM3604954	547	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC gnomAD
rs2149018836 COSM136415	547	G>S	skin [Cosmic]	No	cosmic curated Ensembl
rs754344980	547	G>V		No	ExAC gnomAD
rs2149018777	548	Y>*		No	Ensembl
rs1329837813 COSM1633748	548	Y>C	liver [Cosmic]	No	cosmic curated gnomAD
rs1329837813	548	Y>F		No	gnomAD
rs2149018796 COSM4153506	548	Y>H	kidney [Cosmic]	No	cosmic curated Ensembl
rs2149018796	548	Y>N		No	Ensembl
rs551656821	549	G>A		No	1000Genomes ExAC gnomAD
rs551656821	549	G>D		No	1000Genomes ExAC gnomAD
rs2149018765	549	G>R		No	Ensembl
rs2149018765	549	G>S		No	Ensembl
rs551656821 COSM3303650	549	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC gnomAD
rs2149018706	550	V>A		No	Ensembl
rs2149018706	550	V>D		No	Ensembl
rs2149018723	550	V>F		No	Ensembl
rs2149018723	550	V>I		No	Ensembl
rs2149018723	550	V>L		No	Ensembl
rs1326028027	551	F>I		No	gnomAD
rs1723185252	551	F>L		No	TOPMed
rs1326028027	551	F>L		No	gnomAD
rs2149018667	551	F>S		No	Ensembl
rs2149018642	552	S>R		No	Ensembl
rs2149018654	552	S>T		No	Ensembl
rs772400389	553	R>*		No	ExAC TOPMed gnomAD
rs772400389	553	R>G		No	ExAC TOPMed gnomAD
rs867811974	553	R>L		No	TOPMed gnomAD
rs867811974	553	R>P		No	TOPMed gnomAD
COSM1430547 rs867811974	553	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs2149018597	554	R>*		No	Ensembl
rs1276862103	554	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1276862103	554	R>K		No	gnomAD
rs2149018572	554	R>S		No	Ensembl
rs1276862103	554	R>T		No	gnomAD
rs988425321	555	F>I		No	TOPMed
rs367704412	555	F>L		No	ESP TOPMed gnomAD
rs988425321	555	F>V		No	TOPMed
rs2149018538	556	E>*		No	Ensembl
rs2149018515	556	E>D		No	Ensembl
COSM3775929	556	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2149018528	556	E>V		No	Ensembl
rs2149018502	557	F>I		No	Ensembl
rs2149018480	557	F>L		No	Ensembl
rs2149018502	557	F>V		No	Ensembl
rs2149018489	557	F>Y		No	Ensembl
rs761887389	558	E>D		No	ExAC gnomAD
rs2149018468	558	E>G		No	Ensembl
rs1399929876	558	E>K		No	gnomAD
rs1399929876	558	E>Q		No	gnomAD
rs2149018442	559	T>P		No	Ensembl
rs774421218	560	T>I		No	ExAC gnomAD
rs774421218	560	T>N		No	ExAC gnomAD
rs774421218	560	T>S		No	ExAC gnomAD
rs1578059649	561	P>A		No	TOPMed
rs2149018345	561	P>L		No	Ensembl
rs2149018345	561	P>R		No	Ensembl
rs1578059649	561	P>S		No	TOPMed
rs1578059649	561	P>T		No	TOPMed
rs2149018323	562	V>E		No	Ensembl
rs2149018331	562	V>L		No	Ensembl
rs2149018331	562	V>M		No	Ensembl
rs2148991539	563	F>S		No	Ensembl
rs1723182012	563	F>V		No	gnomAD
rs2148991539	563	F>Y		No	Ensembl
rs376412603	564	A>P		No	ESP ExAC TOPMed gnomAD
rs376412603	564	A>S		No	ESP ExAC TOPMed gnomAD
rs376412603	564	A>T		No	ESP ExAC TOPMed gnomAD
rs2148991510	564	A>V		No	Ensembl
rs2148991477	565	A>G		No	Ensembl
rs1722166302	565	A>P		No	TOPMed gnomAD
rs1722166302	565	A>T		No	TOPMed gnomAD
rs2148991477	565	A>V		No	Ensembl
rs2148991454	566	S>C		No	Ensembl
rs2148991454	566	S>F		No	Ensembl
rs1722166002	566	S>T		No	TOPMed
COSM48337 rs2148991454	566	S>Y	lung [Cosmic]	No	cosmic curated Ensembl
rs147702842	567	S>G		No	ESP ExAC TOPMed gnomAD
rs2148991396	567	S>I		No	Ensembl
rs2148991396	567	S>N		No	Ensembl
rs768844742	567	S>R		No	ExAC TOPMed gnomAD
rs2148991396	567	S>T		No	Ensembl
rs2148991346	568	D>E		No	Ensembl
rs1006375674	568	D>G		No	TOPMed
rs763063348	568	D>H		No	ExAC TOPMed gnomAD
rs763063348 COSM1056635	568	D>N	Variant assessed as Somatic; MODERATE impact. pancreas endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1006375674	568	D>V		No	TOPMed
rs2148991334	569	Q>*		No	Ensembl
rs2148991334	569	Q>E		No	Ensembl
rs2148991316	569	Q>H		No	Ensembl
COSM6167741	569	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1439074783	569	Q>R		No	TOPMed
COSM733892 rs2148991299	570	S>R	Variant assessed as Somatic; MODERATE impact. lung [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2148991309	570	S>T		No	Ensembl
rs768708292	571	Q>E		No	Ensembl
rs1461633952	571	Q>H		No	TOPMed gnomAD
rs1181999243	572	I>L		No	TOPMed gnomAD
rs555430074	572	I>N		No	1000Genomes ExAC TOPMed gnomAD
rs1416732153	573	P>A		No	TOPMed gnomAD
rs546885832	573	P>H		No	TOPMed gnomAD
rs546885832	573	P>L		No	TOPMed gnomAD
rs546885832	573	P>R		No	TOPMed gnomAD
rs1416732153	573	P>S		No	TOPMed gnomAD
COSM1056633	574	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2148991182	574	V>E		No	Ensembl
rs2148991190	574	V>I		No	Ensembl
rs2148991190	574	V>L		No	Ensembl
rs2148991155	575	I>F		No	Ensembl
rs2148991155	575	I>L		No	Ensembl
rs1284785883	575	I>N		No	TOPMed gnomAD
rs1284785883	575	I>T		No	TOPMed gnomAD
rs2148991155	575	I>V		No	Ensembl
rs2148991097	576	A>G		No	Ensembl
rs142184664	576	A>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs142184664	576	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs142184664	576	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2148991097	576	A>V		No	Ensembl
rs1314692186	577	V>L		No	gnomAD
rs1314692186	577	V>M		No	gnomAD
rs2148991029	578	S>C		No	Ensembl
TCGA novel rs2148991029	578	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2148991040	578	S>T		No	Ensembl
rs1722159062	579	V>E		No	Ensembl
rs1722159062	579	V>G		No	Ensembl
rs373360876	579	V>L		No	ESP ExAC TOPMed gnomAD
rs373360876	579	V>M		No	ESP ExAC TOPMed gnomAD
rs901722071	580	T>A		No	TOPMed
rs1560500833	580	T>I		No	Ensembl
rs1560500833	580	T>R		No	Ensembl
rs2148990914	581	V>A		No	Ensembl
rs2148990914	581	V>E		No	Ensembl
rs1040185226	581	V>L		No	TOPMed gnomAD
rs1040185226	581	V>M		No	TOPMed gnomAD
rs2148990891	582	G>*		No	Ensembl
rs1057520012	582	G>A		No	Ensembl
COSM1430545 rs2148990891	582	G>R	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs2148990859	583	V>A		No	Ensembl
rs2148990859	583	V>D		No	Ensembl
rs1329726244	583	V>I		No	TOPMed
rs1329726244	583	V>L		No	TOPMed
TCGA novel	584	I>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1430368288	585	L>F		No	gnomAD
rs547290349	585	L>S		No	1000Genomes ExAC gnomAD
rs1722156838	585	L>V		No	TOPMed
COSM733893 rs1346317025	586	L>F	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated TOPMed gnomAD
rs140536477	587	A>G		No	ESP ExAC gnomAD
COSM733895	587	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs140536477	587	A>V		No	ESP ExAC gnomAD
rs2148990721	588	V>A		No	Ensembl
rs2148990721	588	V>E		No	Ensembl
rs2148990730	588	V>L		No	Ensembl
rs2148990730	588	V>M		No	Ensembl
rs1162603049	589	V>F		No	TOPMed gnomAD
rs1162603049	589	V>I		No	TOPMed gnomAD
rs1162603049	589	V>L		No	TOPMed gnomAD
rs779147408	590	I>M		No	Ensembl
rs1722153927	590	I>V		No	Ensembl
rs913058482	591	G>A		No	Ensembl
COSM1540536 rs539707153 COSM6167742	591	G>C	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs913058482	591	G>D		No	Ensembl
rs539707153	591	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs750858622	592	V>D		No	ExAC gnomAD
rs750858622	592	V>G		No	ExAC gnomAD
rs756653935	592	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs756653935	592	V>L		No	ExAC TOPMed gnomAD
rs2148990571	593	L>F		No	Ensembl
rs2148990571	593	L>I		No	Ensembl
rs757669781	594	L>F		No	ExAC gnomAD
rs2148990548	594	L>H		No	Ensembl
rs757669781	594	L>V		No	ExAC gnomAD
rs1039153509	595	S>R		No	Ensembl
rs2148990529	595	S>T		No	Ensembl
rs751892970	596	G>E		No	ExAC gnomAD
rs2148990503	596	G>R		No	Ensembl
rs751892970	596	G>V		No	ExAC gnomAD
rs2148920299	597	S>R		No	Ensembl
rs2148920271	598	C>*		No	Ensembl
rs2148920283	598	C>F		No	Ensembl
rs2148920293	598	C>R		No	Ensembl
rs2148920283	598	C>S		No	Ensembl
rs2148920271	598	C>W		No	Ensembl
rs781591015	599	C>*		No	ExAC TOPMed gnomAD
rs2148920250	599	C>F		No	Ensembl
rs1054488637	599	C>G		No	TOPMed gnomAD
rs2148920250	599	C>S		No	Ensembl
rs1054488637	599	C>S		No	TOPMed gnomAD
rs781591015	599	C>W		No	ExAC TOPMed gnomAD
rs2148920250	599	C>Y		No	Ensembl
rs2148920214	600	E>D		No	Ensembl
rs151302542 COSM1056631	600	E>K	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs151302542	600	E>Q		No	ESP ExAC TOPMed gnomAD
rs2148920224	600	E>V		No	Ensembl
rs764384757	601	C>*		No	ExAC gnomAD
rs2148920209	601	C>S		No	Ensembl
rs764384757	601	C>W		No	ExAC gnomAD
rs751978999	601	C>Y		No	ExAC TOPMed gnomAD
rs2148920178	602	G>A		No	Ensembl
rs2148920178	602	G>V		No	Ensembl
rs116814255	603	C>*		No	ExAC gnomAD
rs2148920158	603	C>S		No	Ensembl
rs116814255	603	C>W		No	ExAC gnomAD
rs758650433	603	C>Y		No	ExAC gnomAD
rs1408098032	604	G>R		No	TOPMed gnomAD
rs2148920121	604	G>V		No	Ensembl
rs75466484	605	R>G		No	ExAC gnomAD
rs2148920110	605	R>K		No	Ensembl
rs2148920096	605	R>S		No	Ensembl
rs1577958395	606	A>D		No	Ensembl
rs1577958395	606	A>G		No	Ensembl
rs2148920072	606	A>P		No	Ensembl
rs2148920072	606	A>S		No	Ensembl
rs2148920072	606	A>T		No	Ensembl
rs1577958395	606	A>V		No	Ensembl
rs2148920029	607	S>C		No	Ensembl
rs2148920029	607	S>F		No	Ensembl
rs2148920038	607	S>P		No	Ensembl
rs2148920038	607	S>T		No	Ensembl
rs1719081779	608	S>C		No	TOPMed gnomAD
rs1719081779	608	S>F		No	TOPMed gnomAD
COSM1056629	608	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1272854265	609	L>M		No	TOPMed gnomAD
rs1272854265	609	L>V		No	TOPMed gnomAD
rs2148919952 COSM1430542	610	C>F	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2148919962	610	C>G		No	Ensembl
COSM1430543 rs2148919962	610	C>R	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs2148919962	610	C>S		No	Ensembl
rs2148919952	610	C>S		No	Ensembl
rs200675919	610	C>W		No	1000Genomes ExAC TOPMed gnomAD
rs2148919952	610	C>Y		No	Ensembl
rs761781339	611	A>G		No	ExAC TOPMed gnomAD
rs777294375	611	A>P		No	ExAC TOPMed gnomAD
rs777294375	611	A>S		No	ExAC TOPMed gnomAD
rs777294375	611	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs761781339	611	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2148919900	612	V>A		No	Ensembl
rs2148919900	612	V>D		No	Ensembl
TCGA novel	612	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2148919912	612	V>I		No	Ensembl
rs2148919912	612	V>L		No	Ensembl
rs2148919876	613	A>D		No	Ensembl
rs2148919876	613	A>G		No	Ensembl
rs2148919884	613	A>P		No	Ensembl
rs2148919884	613	A>T		No	Ensembl
rs2148919876	613	A>V		No	Ensembl
rs2148919861	614	H>D		No	Ensembl
rs1177036738	614	H>Q		No	gnomAD
rs2148919851	614	H>R		No	Ensembl
rs2148919861	614	H>Y		No	Ensembl
rs2148919830	615	P>A		No	Ensembl
rs2148919816	615	P>Q		No	Ensembl
rs2148919816	615	P>R		No	Ensembl
rs2148919830	615	P>S		No	Ensembl
rs2148919830	615	P>T		No	Ensembl
rs768535351	616	S>I		No	ExAC TOPMed gnomAD
rs768535351	616	S>N		No	ExAC TOPMed gnomAD
rs748972919	616	S>R		No	ExAC gnomAD
rs768535351	616	S>T		No	ExAC TOPMed gnomAD
rs2148919774	617	L>I		No	Ensembl
rs2148919762	617	L>Q		No	Ensembl
rs2148919774	617	L>V		No	Ensembl
rs2148919748	618	I>K		No	Ensembl
rs1316940637	619	W>*		No	gnomAD
rs2148919729	619	W>*		No	Ensembl
rs1316940637	619	W>C		No	gnomAD
TCGA novel	619	W>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2148919729	619	W>S		No	Ensembl
rs146757388	620	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs769393148	620	R>Q		No	ExAC TOPMed gnomAD
rs146757388	620	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2148896592	621	C>*		No	Ensembl
rs2148896600	621	C>S		No	Ensembl
rs2148896600 COSM4125552	621	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
TCGA novel rs1718023658	622	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1718023658	622	G>D		No	TOPMed gnomAD
rs2148896584	622	G>S		No	Ensembl
rs1718023658	622	G>V		No	TOPMed gnomAD
rs1254566405	623	Y>*		No	Ensembl
rs2148896550	623	Y>F		No	Ensembl
rs2148896556	623	Y>N		No	Ensembl
TCGA novel rs1718022469	624	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs776123929	624	S>R		No	ExAC gnomAD
rs1718022469	624	S>T		No	TOPMed
rs1382728984	625	K>N		No	gnomAD
rs2148896475	626	A>E		No	Ensembl
rs2148896475	626	A>G		No	Ensembl
rs1288176462	626	A>P		No	TOPMed gnomAD
rs1288176462	626	A>T		No	TOPMed gnomAD
rs2148896460	627	K>*		No	Ensembl
rs2148896456	627	K>I		No	Ensembl
TCGA novel	627	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2148896439	628	Q>E		No	Ensembl
rs2148896439	628	Q>K		No	Ensembl
rs1275742586	628	Q>P		No	gnomAD
rs2148896407	629	D>E		No	Ensembl
rs1270231082	629	D>G		No	TOPMed
rs561015414	629	D>H		No	1000Genomes ExAC gnomAD
rs561015414	629	D>N		No	1000Genomes ExAC gnomAD
rs561015414	629	D>Y		No	1000Genomes ExAC gnomAD
rs2148896395	630	P>A		No	Ensembl
rs1718019530	630	P>L		No	Ensembl
rs1718019530	630	P>Q		No	Ensembl
rs1718019530	630	P>R		No	Ensembl
rs2148896395	630	P>S		No	Ensembl
rs2148896395	630	P>T		No	Ensembl
COSM4125551 rs1439259258	631	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed
rs1439259258 COSM3409401	631	E>K	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed
rs1439259258	631	E>Q		No	TOPMed
rs2148896341	632	E>G		No	Ensembl
COSM733897 rs1198864954	632	E>K	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed
rs1198864954	632	E>Q		No	TOPMed
rs2148896318	633	E>G		No	Ensembl
rs778292709	633	E>K		No	ExAC gnomAD
rs778292709	633	E>Q		No	ExAC gnomAD
rs1718017342	634	K>N		No	Ensembl
rs772562122	634	K>R		No	ExAC gnomAD
rs772562122	634	K>T		No	ExAC gnomAD
rs2148896267	635	M>I		No	Ensembl
rs1239183704	635	M>K		No	TOPMed
rs1239183704	635	M>T		No	TOPMed
rs1718016657	636	H>D		No	Ensembl
rs2148896244	636	H>Q		No	Ensembl
rs1208501614	636	H>R		No	TOPMed gnomAD
rs1718016657	636	H>Y		No	Ensembl
COSM1056626 rs2148896234	637	F>S	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
COSM299197	638	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2148896231	638	H>P		No	Ensembl
rs748516205	638	H>Q		No	ExAC gnomAD
rs2148896218	639	N>D		No	Ensembl
rs944277172	639	N>K		No	TOPMed gnomAD
rs547409848	639	N>S		No	1000Genomes ExAC gnomAD
COSM265799	639	N>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2148896177	640	G>A		No	Ensembl
rs2148896177	640	G>E		No	Ensembl
rs1718014994	640	G>R		No	Ensembl
rs2148896177	640	G>V		No	Ensembl
TCGA novel	640	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2148896156	641	H>D		No	Ensembl
rs1182321271	641	H>L		No	TOPMed gnomAD
rs1182321271	641	H>P		No	TOPMed gnomAD
COSM94200 rs374702019	641	H>Q	lung [Cosmic]	No	cosmic curated ESP gnomAD
rs2148896156	641	H>Y		No	Ensembl
rs780305830	642	I>F		No	ExAC TOPMed gnomAD
rs2148893056	642	I>M		No	Ensembl
rs2148893070	642	I>N		No	Ensembl
rs780305830	642	I>V		No	ExAC TOPMed gnomAD
rs2148893043	643	K>*		No	Ensembl
rs2148893033	643	K>I		No	Ensembl
rs2148893017 COSM4125550	643	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2148893001	644	L>M		No	Ensembl
rs2148892996	644	L>Q		No	Ensembl
rs2148893001	644	L>V		No	Ensembl
rs765062501	645	P>A		No	ExAC gnomAD
rs2148892959	645	P>L		No	Ensembl
rs2148892959	645	P>R		No	Ensembl
rs765062501	645	P>S		No	ExAC gnomAD
rs765062501	645	P>T		No	ExAC gnomAD
rs865862638	646	G>A		No	Ensembl
COSM448027 rs865862638	646	G>E	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA
rs2148892939	646	G>R		No	Ensembl
rs865862638	646	G>V		No	Ensembl
rs2148892905	647	V>E		No	Ensembl
rs2148892905	647	V>G		No	Ensembl
rs2148892913	647	V>I		No	Ensembl
rs2148892913	647	V>L		No	Ensembl
rs2148892894	648	R>*		No	Ensembl
rs759002317	649	T>I		No	Ensembl
rs2148892887	649	T>P		No	Ensembl
rs759002317	649	T>S		No	Ensembl
rs2148892887	649	T>S		No	Ensembl
rs2148892851	650	Y>*		No	Ensembl
rs754840138	650	Y>H		No	ExAC TOPMed gnomAD
rs754840138	650	Y>N		No	ExAC TOPMed gnomAD
rs2148892845	651	I>F		No	Ensembl
rs1395963006	651	I>M		No	TOPMed gnomAD
rs1717881665	651	I>N		No	TOPMed
rs1717881665	651	I>S		No	TOPMed
rs2148892814	652	D>H		No	Ensembl
rs2148892814	652	D>N		No	Ensembl
rs2148892806	652	D>V		No	Ensembl
rs2148892787	653	P>A		No	Ensembl
rs2148892776	653	P>L		No	Ensembl
rs2148892776	653	P>R		No	Ensembl
rs2148892787	653	P>S		No	Ensembl
rs2148892787	653	P>T		No	Ensembl
rs2148892763	654	H>D		No	Ensembl
rs2148892757	654	H>L		No	Ensembl
rs1717880598	654	H>Q		No	TOPMed
COSM733898	654	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1467468905	655	T>I		No	gnomAD
rs1467468905	655	T>N		No	gnomAD
rs2148892734	655	T>S		No	Ensembl
rs1467468905	655	T>S		No	gnomAD
rs1012499943	656	Y>C		No	gnomAD
rs2148892696	656	Y>N		No	Ensembl
rs1331971228	657	E>D		No	TOPMed
rs2148892658	657	E>G		No	Ensembl
rs1388138471	657	E>K		No	TOPMed
rs1388138471	657	E>Q		No	TOPMed
rs2148892658	657	E>V		No	Ensembl
rs1479852908	658	D>E		No	gnomAD
rs2148892640	658	D>H		No	Ensembl
rs2148892640	658	D>N		No	Ensembl
COSM1671043	658	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs760259202	659	P>A		No	ExAC gnomAD
rs1200636720	659	P>H		No	gnomAD
rs1200636720	659	P>L		No	gnomAD
rs1200636720	659	P>R		No	gnomAD
rs200980371	660	N>I		No	1000Genomes ExAC gnomAD
rs767010843	660	N>K		No	ExAC gnomAD
rs200980371	660	N>S		No	1000Genomes ExAC gnomAD
rs762252936 COSM4826817	661	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC gnomAD
rs762252936	661	Q>E		No	ExAC gnomAD
rs1241028701	661	Q>H		No	gnomAD
rs762252936	661	Q>K		No	ExAC gnomAD
rs1717876000	661	Q>L		No	Ensembl
rs1458893557	662	A>G		No	gnomAD
rs2148892543	662	A>P		No	Ensembl
rs2148892543	662	A>S		No	Ensembl
rs2148892543	662	A>T		No	Ensembl
rs1458893557	662	A>V		No	gnomAD
rs2148892497	663	V>D		No	Ensembl
COSM733899 rs1403523066	663	V>F	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated TOPMed gnomAD
rs1403523066	663	V>I		No	TOPMed gnomAD
rs1403523066	663	V>L		No	TOPMed gnomAD
rs1717874314	664	H>N		No	Ensembl
rs770154636	664	H>Q		No	ExAC TOPMed gnomAD
rs749741161	664	H>R		No	ExAC gnomAD
rs1717874314	664	H>Y		No	Ensembl
COSM3775928	665	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM6167744	665	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1211795184	665	E>K		No	TOPMed gnomAD
rs1211795184	665	E>Q		No	TOPMed gnomAD
rs2148892422	665	E>V		No	Ensembl
rs2148892415	666	F>I		No	Ensembl
rs2148892403	667	A>G		No	Ensembl
rs2148892403	667	A>V		No	Ensembl
rs2148892382	668	K>M		No	Ensembl
rs2148892362	669	E>*		No	Ensembl
rs781162980	669	E>D		No	ExAC TOPMed gnomAD
rs2148892362	669	E>K		No	Ensembl
rs2148892362	669	E>Q		No	Ensembl
rs2148892339	670	I>K		No	Ensembl
rs1457115693	670	I>L		No	TOPMed gnomAD
rs2148892326	671	E>K		No	Ensembl
COSM588056 COSM6100614 rs2148892326	671	E>Q	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic Ensembl
rs2148892288	672	A>G		No	Ensembl
rs36050417	672	A>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs36050417	672	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
VAR_042144 rs36050417	672	A>T		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2148892262	673	S>*		No	Ensembl
rs2148892262	673	S>L		No	Ensembl
rs56359290 VAR_042145 RCV000913054	673	S>T		No	ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2148892227	674	C>*		No	Ensembl
COSM221398 rs1717869532	674	C>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs1404335123	674	C>S		No	TOPMed gnomAD
rs1404335123	674	C>Y		No	TOPMed gnomAD
rs1717868853	675	I>F		No	TOPMed
rs1717868853	675	I>L		No	TOPMed
rs887144739	675	I>M		No	TOPMed gnomAD
rs1717868530	675	I>N		No	gnomAD
rs1717868530	675	I>T		No	gnomAD
rs766091341 COSM1495846	676	T>A	kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD
rs2148892174	676	T>I		No	Ensembl
rs766091341	676	T>P		No	ExAC TOPMed gnomAD
rs766091341	676	T>S		No	ExAC TOPMed gnomAD
rs2148892174	676	T>S		No	Ensembl
rs1717867121	677	I>M		No	Ensembl
rs1427787527	677	I>V		No	gnomAD
rs1173833479 COSM194384	678	E>*	large_intestine [Cosmic]	No	cosmic curated gnomAD
rs1173833479	678	E>K		No	gnomAD
rs1173833479	678	E>Q		No	gnomAD
rs2148892131	678	E>V		No	Ensembl
rs2148892108	679	R>K		No	Ensembl
rs2148892108	679	R>T		No	Ensembl
rs942599588	680	V>A		No	Ensembl
rs2148892100	680	V>L		No	Ensembl
rs2148892070	681	I>N		No	Ensembl
rs2148892043	682	G>*		No	Ensembl
rs1366197544	682	G>A		No	gnomAD
rs1366197544	682	G>E		No	gnomAD
rs2148892043	682	G>R		No	Ensembl
rs1366197544	682	G>V		No	gnomAD
COSM1430541	683	A>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2148892006	683	A>E		No	Ensembl
rs2148892006 TCGA novel	683	A>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2148892016	683	A>P		No	Ensembl
rs2148892016	683	A>T		No	Ensembl
rs2148892006	683	A>V		No	Ensembl
rs2148889349	684	G>A		No	Ensembl
rs2148889349	684	G>D		No	Ensembl
rs1163416519	684	G>R		No	TOPMed
rs1163416519	684	G>S		No	TOPMed
rs2148889349	684	G>V		No	Ensembl
rs2148889314	685	E>D		No	Ensembl
rs2148889330	685	E>K		No	Ensembl
rs2148889330	685	E>Q		No	Ensembl
rs2148889323	685	E>V		No	Ensembl
rs2148889310	686	F>I		No	Ensembl
rs2148889303	686	F>S		No	Ensembl
rs2148889281	687	G>A		No	Ensembl
rs2148889293	687	G>C		No	Ensembl
rs2148889281 COSM588057	687	G>D	lung [Cosmic]	No	cosmic curated Ensembl
rs2148889293	687	G>R		No	Ensembl
rs2148889281	687	G>V		No	Ensembl
rs2148889268	688	E>*		No	Ensembl
rs2148889250	688	E>D		No	Ensembl
rs2148889258	688	E>G		No	Ensembl
COSM3940914 rs2148889268	688	E>K	oesophagus [Cosmic]	No	cosmic curated Ensembl
rs2148889268	688	E>Q		No	Ensembl
rs2148889258	688	E>V		No	Ensembl
rs1232358687	689	V>A		No	TOPMed
rs1232358687	689	V>D		No	TOPMed
rs1717748951	689	V>F		No	Ensembl
rs1232358687	689	V>G		No	TOPMed
rs1717748951	689	V>L		No	Ensembl
rs777259794	690	C>*		No	Ensembl
rs2148889205	690	C>R		No	Ensembl
rs2148889205	690	C>S		No	Ensembl
rs777259794	690	C>W		No	Ensembl
rs920876654	691	S>C		No	Ensembl
rs920876654	691	S>G		No	Ensembl
rs2148889168	691	S>R		No	Ensembl
rs2148889173	691	S>T		No	Ensembl
rs2148889140	692	G>A		No	Ensembl
rs2148889140	692	G>E		No	Ensembl
rs2148889154	692	G>R		No	Ensembl
rs2148889140	692	G>V		No	Ensembl
COSM5866613 rs780968976	693	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs780968976	693	R>G		No	ExAC TOPMed gnomAD
COSM120884 rs756849899	693	R>H	upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs756849899	693	R>L		No	ExAC TOPMed gnomAD
rs756849899	693	R>P		No	ExAC TOPMed gnomAD
rs780968976	693	R>S		No	ExAC TOPMed gnomAD
rs751094091	694	L>F		No	ExAC TOPMed gnomAD
rs2148889082	694	L>M		No	Ensembl
rs2148889078	694	L>S		No	Ensembl
rs2148889082	694	L>V		No	Ensembl
rs1717746341	695	K>*		No	Ensembl
rs1717746341	695	K>E		No	Ensembl
rs2148889054	695	K>I		No	Ensembl
rs2148889045	695	K>N		No	Ensembl
rs763445889	696	L>I		No	ExAC gnomAD
rs2148889033	696	L>Q		No	Ensembl
COSM3946499 rs763445889	696	L>V	lung [Cosmic]	No	cosmic curated ExAC gnomAD
rs2148889013	697	P>A		No	Ensembl
rs2148889013	697	P>S		No	Ensembl
rs2148889013	697	P>T		No	Ensembl
rs2148889006	698	G>*		No	Ensembl
rs2148888993	698	G>A		No	Ensembl
rs2148888993 COSM3604953	698	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2148889006	698	G>R		No	Ensembl
rs2148888993	698	G>V		No	Ensembl
rs2148888969	699	K>N		No	Ensembl
rs1717744982	699	K>Q		No	TOPMed
rs1717744644	700	R>G		No	TOPMed gnomAD
rs763587410	700	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs763587410	700	R>T		No	ExAC gnomAD
COSM280828	701	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2148888914	701	E>A		No	Ensembl
rs2148888900	701	E>D		No	Ensembl
rs765807043	701	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs765807043	701	E>Q		No	ExAC gnomAD
rs2148888914	701	E>V		No	Ensembl
rs778620668	702	L>*		No	Ensembl
rs2148888877	702	L>F		No	Ensembl
rs1363369380	702	L>I		No	gnomAD
rs778620668	702	L>S		No	Ensembl
rs1363369380	702	L>V		No	gnomAD
rs2148888862 TCGA novel	703	P>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2148888843	703	P>H		No	Ensembl
rs2148888843	703	P>L		No	Ensembl
rs2148888843	703	P>R		No	Ensembl
rs2148888862	703	P>S		No	Ensembl
rs2148888820	704	V>L		No	Ensembl
rs2148888820	704	V>M		No	Ensembl
rs2148888782	705	A>P		No	Ensembl
COSM4125549 rs2148888782	705	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2148888782	705	A>T		No	Ensembl
rs2148888772	705	A>V		No	Ensembl
rs1577925088	706	I>F		No	Ensembl
rs1717742047	706	I>M		No	TOPMed
rs2148888733	706	I>N		No	Ensembl
rs2148888709	707	K>*		No	Ensembl
rs2148888699	707	K>I		No	Ensembl
rs2148888687	707	K>N		No	Ensembl
rs760043343	708	T>I		No	ExAC gnomAD
rs2148888678	708	T>P		No	Ensembl
rs760043343	708	T>S		No	ExAC gnomAD
rs2148888678	708	T>S		No	Ensembl
rs2148888647	709	L>F		No	Ensembl
rs2148888634	709	L>H		No	Ensembl
rs2148888647	709	L>I		No	Ensembl
rs2148888634	709	L>P		No	Ensembl
rs2148888647	709	L>V		No	Ensembl
rs2148888600	710	K>N		No	Ensembl
rs776845872	710	K>R		No	ExAC TOPMed gnomAD
rs776845872	710	K>T		No	ExAC TOPMed gnomAD
rs2148888586	711	V>E		No	Ensembl
rs1717740722	711	V>I		No	TOPMed
rs1717740722	711	V>L		No	TOPMed
rs2148888546	712	G>A		No	Ensembl
rs2148888546	712	G>D		No	Ensembl
rs2148888560	712	G>R		No	Ensembl
rs2148888560	712	G>S		No	Ensembl
rs2148888546	712	G>V		No	Ensembl
rs2148888516	713	Y>*		No	Ensembl
rs2148888529	713	Y>N		No	Ensembl
rs2148888490	714	T>I		No	Ensembl
rs2148888504	714	T>S		No	Ensembl
rs2148888490	714	T>S		No	Ensembl
rs2148888466	715	E>*		No	Ensembl
rs771196727	715	E>A		No	ExAC TOPMed gnomAD
rs2148888466	715	E>K		No	Ensembl
rs2148888466	715	E>Q		No	Ensembl
rs771196727	715	E>V		No	ExAC TOPMed gnomAD
rs2148888449	716	K>R		No	Ensembl
rs2148888435	717	Q>*		No	Ensembl
rs2148888435	717	Q>E		No	Ensembl
rs946168616	717	Q>H		No	TOPMed gnomAD
COSM1251306 rs201120003	718	R>C	Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs201120003	718	R>G		No	ExAC TOPMed gnomAD
COSM1056624 rs910705978	718	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs910705978	718	R>L		No	gnomAD
rs910705978	718	R>P		No	gnomAD
rs201120003	718	R>S		No	ExAC TOPMed gnomAD
COSM3727615	719	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2148888376	719	R>K		No	Ensembl
rs2148888363	719	R>S		No	Ensembl
rs2148888376	719	R>T		No	Ensembl
rs2148888331	720	D>E		No	Ensembl
rs748201189 COSM3946498	720	D>H	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs748201189	720	D>N		No	ExAC TOPMed gnomAD
rs760787898	720	D>V		No	TOPMed
COSM1056622	720	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2148888327	721	F>I		No	Ensembl
rs2148888313	721	F>L		No	Ensembl
rs1717737088	722	L>I		No	gnomAD
rs1560456953	722	L>P		No	Ensembl
rs1560456953	722	L>Q		No	Ensembl
TCGA novel	722	L>Q	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1717737088	722	L>V		No	gnomAD
rs374393697	723	G>A		No	ESP ExAC TOPMed gnomAD
rs2148888260	723	G>C		No	Ensembl
rs374393697	723	G>D		No	ESP ExAC TOPMed gnomAD
rs2148888260	723	G>R		No	Ensembl
rs2148888260	723	G>S		No	Ensembl
rs374393697	723	G>V		No	ESP ExAC TOPMed gnomAD
rs2148888227	724	E>*		No	Ensembl
rs2148888223	724	E>D		No	Ensembl
rs2148888227	724	E>K		No	Ensembl
rs2148888227	724	E>Q		No	Ensembl
TCGA novel	725	A>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2148888209	725	A>P		No	Ensembl
rs2148888209	725	A>S		No	Ensembl
rs2148888209 COSM4125548	725	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2148888199	726	S>C		No	Ensembl
rs769721695	726	S>I		No	ExAC TOPMed gnomAD
rs769721695	726	S>N		No	ExAC TOPMed gnomAD
rs745737691	726	S>R		No	ExAC gnomAD
rs769721695	726	S>T		No	ExAC TOPMed gnomAD
rs879671491	727	I>M		No	TOPMed gnomAD
rs2148888155	727	I>N		No	Ensembl
rs1717734550	727	I>V		No	TOPMed gnomAD
rs2148888113	728	M>I		No	Ensembl
rs2148888129	728	M>K		No	Ensembl
rs750508480	728	M>L		No	ExAC TOPMed gnomAD
rs750508480	728	M>V		No	ExAC TOPMed gnomAD
rs2148888100	729	G>*		No	Ensembl
rs2148888082	729	G>A		No	Ensembl
rs2148888082	729	G>E		No	Ensembl
rs2148888100	729	G>R		No	Ensembl
rs2148888082	729	G>V		No	Ensembl
rs2148888073	730	Q>E		No	Ensembl
COSM6100615	730	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1717733543	730	Q>P		No	TOPMed
rs1717733226	731	F>I		No	Ensembl
rs1717733226	731	F>L		No	Ensembl
rs2148888026	731	F>L		No	Ensembl
COSM213098 rs2148888033	731	F>Y	breast [Cosmic]	No	cosmic curated Ensembl
rs2148888005	732	D>E		No	Ensembl
rs756940530	732	D>G		No	ExAC TOPMed gnomAD
rs1280610278 COSM3428593	732	D>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1280610278	732	D>N		No	gnomAD
rs1717732273	733	H>D		No	Ensembl
rs1717732273	733	H>N		No	Ensembl
rs1717732273	733	H>Y		No	Ensembl
rs2148887975	734	P>A		No	Ensembl
rs751133102	734	P>H		No	ExAC TOPMed gnomAD
rs751133102	734	P>L		No	ExAC TOPMed gnomAD
rs751133102	734	P>R		No	ExAC TOPMed gnomAD
rs2148887975	734	P>T		No	Ensembl
rs2148887934	735	N>K		No	Ensembl
rs2148887944	735	N>Y		No	Ensembl
rs2148887894	736	I>M		No	Ensembl
COSM1056620 rs1717730895	736	I>N	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs1717730895	736	I>T		No	TOPMed
rs1302211375	736	I>V		No	gnomAD
rs2148887882	737	I>M		No	Ensembl
rs777449176	738	H>D		No	ExAC gnomAD
rs2148887853	738	H>Q		No	Ensembl
rs1290412965	738	H>R		No	TOPMed gnomAD
rs777449176	738	H>Y		No	ExAC gnomAD
rs1358001965	739	L>*		No	gnomAD
rs2148887849	739	L>I		No	Ensembl
COSM733900 rs1358001965	739	L>S	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
TCGA novel	739	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2148887826	740	E>*		No	Ensembl
rs2148887826	740	E>K		No	Ensembl
rs2148887826	740	E>Q		No	Ensembl
rs2148887818	740	E>V		No	Ensembl
rs1362326574	741	G>A		No	Ensembl
rs1717729589	741	G>C		No	Ensembl
rs1362326574	741	G>D		No	Ensembl
rs1717729589	741	G>S		No	Ensembl
rs2148887768	742	V>A		No	Ensembl
rs2148887768	742	V>E		No	Ensembl
rs2148887778	742	V>L		No	Ensembl
rs547306138	743	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA gnomAD
rs547306138	743	V>E		No	1000Genomes ExAC gnomAD
rs143201043	744	T>I		No	ESP ExAC gnomAD
rs143201043	744	T>N		No	ESP ExAC gnomAD
rs143201043	744	T>S		No	ESP ExAC gnomAD
rs760061845	745	K>T		No	ExAC TOPMed gnomAD
rs2148860760	747	K>N		No	Ensembl
rs2148860739	748	P>L		No	Ensembl
rs1210243340	748	P>S		No	TOPMed gnomAD
rs1210243340	748	P>T		No	TOPMed gnomAD
TCGA novel rs2148860723	749	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2148860695	750	M>I		No	Ensembl
rs754246386	750	M>L		No	ExAC gnomAD
rs1202151167	750	M>T		No	gnomAD
rs200235221	751	I>M		No	1000Genomes ExAC TOPMed gnomAD
rs2148860686	751	I>N		No	Ensembl
rs2148860660	752	V>E		No	Ensembl
COSM588059 rs759048340 COSM6100616	752	V>L	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated ExAC gnomAD NCI-TCGA Cosmic
rs759048340	752	V>M		No	ExAC gnomAD
rs2148860643	753	T>R		No	Ensembl
rs2148860649	753	T>S		No	Ensembl
rs767788615	754	E>G		No	ExAC TOPMed gnomAD
rs1722976593	754	E>K		No	Ensembl
COSM3775927 rs1722976593	754	E>Q	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs764118898	755	Y>C		No	ExAC TOPMed gnomAD
rs764118898	755	Y>F		No	ExAC TOPMed gnomAD
rs774423059	755	Y>H		No	ExAC gnomAD
rs776482836	756	M>I		No	ExAC gnomAD
rs759540768	756	M>T		No	ExAC TOPMed gnomAD
rs1318926714	756	M>V		No	TOPMed gnomAD
COSM1056618	757	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs770871796	757	E>G		No	ExAC TOPMed gnomAD
rs2148860506	757	E>K		No	Ensembl
rs2148860506	757	E>Q		No	Ensembl
rs746836106	758	N>S		No	ExAC gnomAD
rs1722972857	759	G>A		No	Ensembl
rs773082683	759	G>C		No	ExAC TOPMed gnomAD
rs1722972857	759	G>D		No	Ensembl
rs773082683	759	G>R		No	ExAC TOPMed gnomAD
rs1722972857	759	G>V		No	Ensembl
rs2148860415	760	S>C		No	Ensembl
TCGA novel rs2148860415	760	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1257531096	760	S>T		No	gnomAD
rs2148860397	762	D>H		No	Ensembl
rs747762296	763	T>I		No	ExAC gnomAD
rs747762296	763	T>R		No	ExAC gnomAD
rs1186126158	763	T>S		No	TOPMed gnomAD
rs1417179360	764	F>L		No	TOPMed
rs778584635	764	F>Y		No	ExAC TOPMed gnomAD
rs754491689 TCGA novel	765	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC gnomAD NCI-TCGA
rs905868261	766	K>E		No	Ensembl
rs2148860302	766	K>R		No	Ensembl
rs2148856064	767	K>E		No	Ensembl
rs751891319	768	N>K		No	ExAC TOPMed gnomAD
rs1373052016	768	N>S		No	gnomAD
rs2148856053	768	N>Y		No	Ensembl
rs1722819828	769	D>E		No	gnomAD
rs777926897	769	D>G		No	ExAC gnomAD
rs1722820508	769	D>H		No	gnomAD
rs1722820508 COSM4536503	769	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic gnomAD
rs2148855952	770	G>A		No	Ensembl
rs2148855952	770	G>E		No	Ensembl
rs1722819545	770	G>R		No	TOPMed
rs2148855952	770	G>V		No	Ensembl
rs1722819545	770	G>W		No	TOPMed
rs549914252	771	Q>*		No	1000Genomes ExAC TOPMed gnomAD
rs2148855909	771	Q>H		No	Ensembl
rs549914252	771	Q>K		No	1000Genomes ExAC TOPMed gnomAD
rs2148855897	772	F>I		No	Ensembl
rs2148855885	772	F>L		No	Ensembl
rs1722818304	773	T>A		No	Ensembl
rs2148855852	773	T>I		No	Ensembl
rs2148855852	773	T>S		No	Ensembl
rs1722818304	773	T>S		No	Ensembl
rs2148855823	774	V>E		No	Ensembl
rs1722817744	774	V>M		No	Ensembl
rs530933021	775	I>N		No	1000Genomes
rs530933021	775	I>T		No	1000Genomes
rs2148855786	776	Q>*		No	Ensembl
rs2148855786	776	Q>E		No	Ensembl
rs2148855754	776	Q>H		No	Ensembl
rs2148855786	776	Q>K		No	Ensembl
rs2148855770	776	Q>L		No	Ensembl
TCGA novel rs2148855770	776	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2148855738	777	L>F		No	Ensembl
rs2148855728	777	L>H		No	Ensembl
rs2148855738	777	L>V		No	Ensembl
rs1577889646	778	V>A		No	Ensembl
rs1577889646	778	V>D		No	Ensembl
rs1577889646	778	V>G		No	Ensembl
rs1267553167	778	V>I		No	gnomAD
rs1267553167	778	V>L		No	gnomAD
rs2148855631	779	G>A		No	Ensembl
COSM733901 rs2148855646	779	G>C	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2148855631	779	G>D		No	Ensembl
rs2148855646	779	G>R		No	Ensembl
rs2148855646	779	G>S		No	Ensembl
rs2148855631	779	G>V		No	Ensembl
rs2148855590	780	M>I		No	Ensembl
rs2148855602	780	M>K		No	Ensembl
rs760710515	780	M>L		No	ExAC gnomAD
rs2148855568	781	L>P		No	Ensembl
rs2148855568	781	L>Q		No	Ensembl
rs2148855582	781	L>V		No	Ensembl
rs2148855549	782	R>*		No	Ensembl
rs1457386561	782	R>K		No	gnomAD
rs1479517156	782	R>S		No	gnomAD
rs1457386561	782	R>T		No	gnomAD
rs199801676	783	G>A		No	ESP ExAC TOPMed gnomAD
COSM6100617	783	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1722815372 COSM3661160	783	G>S	liver [Cosmic]	No	cosmic curated Ensembl
rs199801676	783	G>V		No	ESP ExAC TOPMed gnomAD
rs2148855478	784	I>F		No	Ensembl
rs1722815113	784	I>M		No	TOPMed
rs2148855473	784	I>N		No	Ensembl
rs2148855478	784	I>V		No	Ensembl
rs1219153956	785	S>T		No	gnomAD
COSM6100618 COSM588062 rs2148855416	786	A>E	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic Ensembl
rs2148855416	786	A>G		No	Ensembl
rs2148855429	786	A>P		No	Ensembl
rs2148855429	786	A>T		No	Ensembl
rs2148855416	786	A>V		No	Ensembl
rs2148855380	787	G>A		No	Ensembl
rs2148855380	787	G>E		No	Ensembl
rs2148855392	787	G>R		No	Ensembl
rs2148855380	787	G>V		No	Ensembl
rs1281456118	788	M>I		No	TOPMed gnomAD
rs2148855344	788	M>K		No	Ensembl
rs1469622881	788	M>V		No	gnomAD
rs2148855321	789	K>*		No	Ensembl
rs2148855318	789	K>M		No	Ensembl
rs2148855310 TCGA novel	789	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs761764875	790	Y>*		No	ExAC TOPMed gnomAD
rs1232544378	790	Y>D		No	gnomAD
rs2148855290	790	Y>F		No	Ensembl
rs1232544378	790	Y>N		No	gnomAD
rs2148855244	791	L>F		No	Ensembl
rs2148855235	791	L>H		No	Ensembl
rs2148855244	791	L>V		No	Ensembl
rs2148855221	792	S>C		No	Ensembl
rs2148855221	792	S>F		No	Ensembl
rs2148855183	793	D>A		No	Ensembl
rs2148855173	793	D>E		No	Ensembl
rs2148855183	793	D>G		No	Ensembl
rs2148855191	793	D>H		No	Ensembl
rs2148855191	793	D>N		No	Ensembl
rs2148855183	793	D>V		No	Ensembl
rs2148855191	793	D>Y		No	Ensembl
rs1400014333	794	M>I		No	TOPMed gnomAD
TCGA novel rs768209868	794	M>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA ExAC TOPMed gnomAD
rs2148855163 COSM390223	794	M>L	lung [Cosmic]	No	cosmic curated Ensembl
rs768209868	794	M>T		No	ExAC TOPMed gnomAD
rs2148855102	795	G>A		No	Ensembl
rs2148855122	795	G>C		No	Ensembl
rs2148855102	795	G>D		No	Ensembl
rs2148855122	795	G>R		No	Ensembl
rs2148855122	795	G>S		No	Ensembl
rs2148855102	795	G>V		No	Ensembl
rs2148855058	796	Y>F		No	Ensembl
rs2148855070	796	Y>N		No	Ensembl
rs1722810980	797	V>A		No	gnomAD
rs1722810980	797	V>E		No	gnomAD
rs369412311	797	V>L		No	ESP TOPMed gnomAD
rs369412311	797	V>M		No	ESP TOPMed gnomAD
rs2148854979	798	H>D		No	Ensembl
rs2148854970	798	H>L		No	Ensembl
rs2148854979	798	H>N		No	Ensembl
rs2148854956	798	H>Q		No	Ensembl
rs2148854979	798	H>Y		No	Ensembl
rs2148854938	799	R>I		No	Ensembl
rs2148854938	799	R>K		No	Ensembl
rs2148854919	799	R>S		No	Ensembl
rs2148854938	799	R>T		No	Ensembl
rs1309668588	800	D>E		No	TOPMed gnomAD
rs2148854914	800	D>N		No	Ensembl
rs2148854898	801	L>F		No	Ensembl
rs2148854887	801	L>H		No	Ensembl
rs2148854898	801	L>V		No	Ensembl
rs2148854876	802	A>P		No	Ensembl
rs2148854876	802	A>S		No	Ensembl
rs2148854876	802	A>T		No	Ensembl
rs2148854834	803	A>D		No	Ensembl
rs2148854834	803	A>G		No	Ensembl
rs2148854848	803	A>P		No	Ensembl
rs2148854848	803	A>S		No	Ensembl
rs2148854848	803	A>T		No	Ensembl
rs2148854834	803	A>V		No	Ensembl
rs2148854799	804	R>K		No	Ensembl
rs2148854799	804	R>T		No	Ensembl
rs2148854790	805	N>I		No	Ensembl
rs2148854790	805	N>S		No	Ensembl
rs2148854754	806	I>M		No	Ensembl
rs2148854771	806	I>N		No	Ensembl
rs2148854781	806	I>V		No	Ensembl
rs2148854726	807	L>*		No	Ensembl
rs2148854743	807	L>I		No	Ensembl
rs2148854726	807	L>S		No	Ensembl
rs2148854704	808	I>F		No	Ensembl
COSM1205462 rs2148854704	808	I>L	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs2148854677	808	I>M		No	Ensembl
rs1317921923	808	I>N		No	TOPMed
rs1317921923	808	I>T		No	TOPMed
rs2148854672	809	N>D		No	Ensembl
rs2148854667	809	N>I		No	Ensembl
rs2148854653	809	N>K		No	Ensembl
rs2148854667	809	N>S		No	Ensembl
COSM1430540 rs371973459	810	S>G	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1170321468	810	S>N		No	TOPMed gnomAD
rs2148854614	810	S>R		No	Ensembl
rs1170321468	810	S>T		No	TOPMed gnomAD
rs1722808695	811	N>D		No	Ensembl
rs1477386460	811	N>I		No	gnomAD
rs774897926	811	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD NCI-TCGA
rs1477386460	811	N>S		No	gnomAD
rs1477386460	811	N>T		No	gnomAD
rs1722808695	811	N>Y		No	Ensembl
rs1470174357	812	L>F		No	TOPMed
rs2148854537	812	L>H		No	Ensembl
rs1470174357	812	L>I		No	TOPMed
rs1470174357	812	L>V		No	TOPMed
rs2148854510	813	V>A		No	Ensembl
rs2148854510	813	V>E		No	Ensembl
rs2148854527	813	V>L		No	Ensembl
rs2148854465 COSM1567290	814	C>*	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs568570258	814	C>S		No	1000Genomes ExAC gnomAD
rs2148854487	814	C>S		No	Ensembl
rs2148854465	814	C>W		No	Ensembl
rs568570258	814	C>Y		No	1000Genomes ExAC gnomAD
rs2148854455	815	K>*		No	Ensembl
rs2148854455	815	K>E		No	Ensembl
rs1417141503 COSM1430539	815	K>R	large_intestine [Cosmic]	No	cosmic curated gnomAD
rs745360988	816	V>A		No	ExAC gnomAD
rs745360988	816	V>E		No	ExAC gnomAD
rs2148854438	816	V>L		No	Ensembl
rs2148854438	816	V>M		No	Ensembl
rs2148854394	817	S>C		No	Ensembl
rs2148854394	817	S>F		No	Ensembl
rs2148854406	817	S>P		No	Ensembl
rs2148854406	817	S>T		No	Ensembl
rs2148854359	818	D>A		No	Ensembl
rs2148854348	818	D>E		No	Ensembl
rs2148854359	818	D>G		No	Ensembl
rs2148854380	818	D>H		No	Ensembl
rs2148854380	818	D>N		No	Ensembl
rs2148854359	818	D>V		No	Ensembl
rs2148854339	819	F>I		No	Ensembl
rs2148854326	820	G>A		No	Ensembl
rs2148854326	820	G>E		No	Ensembl
COSM3409400 rs2148854326	820	G>V	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2148854306	821	L>F		No	Ensembl
rs2148854299	821	L>H		No	Ensembl
rs2148854306	821	L>V		No	Ensembl
rs1459041115	822	S>A		No	gnomAD
rs771424766	822	S>F		No	ExAC gnomAD
rs1459041115	822	S>T		No	gnomAD
rs1345783479	823	R>L		No	gnomAD
COSM5866611 rs1345783479	823	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs747385140 COSM248798	823	R>W	pancreas [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs758578574	824	V>A		No	ExAC gnomAD
rs758578574	824	V>E		No	ExAC gnomAD
rs758578574	824	V>G		No	ExAC gnomAD
rs548263764	824	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs2148854160	825	L>P		No	Ensembl
rs2148854160	825	L>Q		No	Ensembl
rs2148854178	825	L>V		No	Ensembl
rs2148854122	826	E>D		No	Ensembl
rs2148854133	826	E>K		No	Ensembl
rs1310465912	827	D>E		No	TOPMed gnomAD
rs2148854093	827	D>G		No	Ensembl
rs1376354548	827	D>H		No	gnomAD
rs1376354548	827	D>N		No	gnomAD
rs1376354548	827	D>Y		No	gnomAD
rs374985302	828	D>A		No	ESP ExAC TOPMed gnomAD
rs374985302	828	D>G		No	ESP ExAC TOPMed gnomAD
rs2148854071	828	D>H		No	Ensembl
rs2148854071	828	D>N		No	Ensembl
rs374985302	828	D>V		No	ESP ExAC TOPMed gnomAD
rs2148854034	829	P>A		No	Ensembl
rs755145140	829	P>H		No	ExAC gnomAD
rs755145140	829	P>L		No	ExAC gnomAD
rs755145140	829	P>R		No	ExAC gnomAD
rs2148853978	830	E>D		No	Ensembl
rs2148853987	830	E>G		No	Ensembl
rs767617774	830	E>K		No	ExAC TOPMed gnomAD
rs767617774	830	E>Q		No	ExAC TOPMed gnomAD
rs2148853987	830	E>V		No	Ensembl
rs2148853944	831	A>G		No	Ensembl
rs2148853963	831	A>P		No	Ensembl
rs2148853963	831	A>S		No	Ensembl
rs2148853963	831	A>T		No	Ensembl
rs2148853944	831	A>V		No	Ensembl
rs2148853907	832	A>G		No	Ensembl
rs2148853921	832	A>P		No	Ensembl
rs2148853921	832	A>S		No	Ensembl
rs2148853921	832	A>T		No	Ensembl
rs2148853907	832	A>V		No	Ensembl
rs145959986	833	Y>*		No	ESP ExAC TOPMed gnomAD
rs1722801009	833	Y>C		No	TOPMed
rs1722801009	833	Y>F		No	TOPMed
rs2148853889	833	Y>H		No	Ensembl
rs2148853889	833	Y>N		No	Ensembl
rs1722801009	833	Y>S		No	TOPMed
rs1722800430	834	T>S		No	Ensembl
rs2148853821	834	T>S		No	Ensembl
rs2148853841	834	T>S		No	Ensembl
rs2148853784	835	T>I		No	Ensembl
rs2148853800	835	T>P		No	Ensembl
rs2148853784	835	T>R		No	Ensembl
COSM1056612	836	R>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2148853757	836	R>G		No	Ensembl
rs763912590	836	R>K		No	ExAC gnomAD
rs2148853721	836	R>S		No	Ensembl
rs763912590	836	R>T		No	ExAC gnomAD
rs2148843340	837	G>*		No	Ensembl
rs2148843326	837	G>A		No	Ensembl
rs2148843326	837	G>E		No	Ensembl
rs2148843340	837	G>R		No	Ensembl
rs2148843326	837	G>V		No	Ensembl
rs2148843288	838	G>A		No	Ensembl
rs2148843288	838	G>E		No	Ensembl
rs2148843312	838	G>R		No	Ensembl
rs2148843288	838	G>V		No	Ensembl
COSM94199	839	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2148843262	840	I>F		No	Ensembl
rs2148843222	841	P>A		No	Ensembl
COSM1540541 rs2148843201	841	P>L	lung liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2148843201	841	P>Q		No	Ensembl
rs2148843201	841	P>R		No	Ensembl
rs2148843222 COSM1721882	841	P>S	NS [Cosmic]	No	cosmic curated Ensembl
rs2148843222	841	P>T		No	Ensembl
rs1363376793	842	I>L		No	TOPMed gnomAD
COSM733902 rs1403402648	842	I>M	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated TOPMed gnomAD
rs2148843160	842	I>N		No	Ensembl
rs1363376793	842	I>V		No	TOPMed gnomAD
rs2148843136	843	R>*		No	Ensembl
rs1722404698	843	R>I		No	Ensembl
rs1722404698	843	R>K		No	Ensembl
rs2148843099	843	R>S		No	Ensembl
rs1722404698	843	R>T		No	Ensembl
rs2148843064	844	W>*		No	Ensembl
rs1722404396	844	W>*		No	Ensembl
rs1722404396	844	W>C		No	Ensembl
rs2148843064 COSM733903	844	W>L	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2148843091	844	W>R		No	Ensembl
COSM3946497 rs2148843064	844	W>S	lung [Cosmic]	No	cosmic curated Ensembl
rs2148843035	845	T>I		No	Ensembl
rs2148843035	845	T>S		No	Ensembl
rs765823020	846	A>P		No	ExAC gnomAD
rs765823020	846	A>S		No	ExAC gnomAD
rs765823020	846	A>T		No	ExAC gnomAD
rs2148842965	847	P>A		No	Ensembl
rs1359103773	847	P>L		No	gnomAD
rs1359103773	847	P>Q		No	gnomAD
rs2148842965	847	P>S		No	Ensembl
rs2148842965	847	P>T		No	Ensembl
COSM1251310 rs2148842900	848	E>D	oesophagus [Cosmic]	No	cosmic curated Ensembl
rs2148842933	848	E>K		No	Ensembl
rs2148842933	848	E>Q		No	Ensembl
rs2148842916	848	E>V		No	Ensembl
rs1722402951	849	A>E		No	TOPMed gnomAD
rs1722402951	849	A>G		No	TOPMed gnomAD
rs1300718125	849	A>P		No	gnomAD
rs1300718125	849	A>S		No	gnomAD
rs1300718125 COSM588064 COSM6100619	849	A>T	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1722402951	849	A>V		No	TOPMed gnomAD
rs2148842824	850	I>K		No	Ensembl
rs760078567	850	I>L		No	ExAC TOPMed gnomAD
rs1722402115	850	I>M		No	TOPMed
rs2148842824	850	I>R		No	Ensembl
rs760078567	850	I>V		No	ExAC TOPMed gnomAD
rs2148842763	851	A>D		No	Ensembl
rs2148842763	851	A>G		No	Ensembl
rs2148842786	851	A>P		No	Ensembl
rs2148842786	851	A>S		No	Ensembl
rs2148842786	851	A>T		No	Ensembl
rs2148842763	851	A>V		No	Ensembl
rs773809791	852	F>I		No	ExAC TOPMed gnomAD
rs1560436982	852	F>L		No	Ensembl
rs2148842728	852	F>Y		No	Ensembl
rs1383933498	853	R>*		No	gnomAD
rs1383933498	853	R>G		No	gnomAD
rs772452750	853	R>L		No	ExAC gnomAD
rs772452750	853	R>P		No	ExAC gnomAD
COSM1430538 rs772452750	853	R>Q	lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs2148842630	854	K>N		No	Ensembl
rs2148842618	855	F>I		No	Ensembl
rs2148842610	855	F>S		No	Ensembl
TCGA novel	855	F>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2148842618	855	F>V		No	Ensembl
rs2148842610	855	F>Y		No	Ensembl
rs2148842583 VAR_042146 COSM12956	856	T>I	lung a lung squamous cell carcinoma sample; somatic mutation [Cosmic, UniProt]	No	cosmic curated Ensembl UniProt
rs2148842583	856	T>S		No	Ensembl
rs1722398714	857	S>C		No	TOPMed
rs1722398714	857	S>F		No	TOPMed
rs2148842572	857	S>T		No	Ensembl
TCGA novel	857	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2148842521	858	A>D		No	Ensembl
rs2148842521	858	A>G		No	Ensembl
rs1401469962	858	A>P		No	TOPMed gnomAD
rs1401469962	858	A>S		No	TOPMed gnomAD
rs1401469962	858	A>T		No	TOPMed gnomAD
rs2148842521	858	A>V		No	Ensembl
rs2148842491	859	S>I		No	Ensembl
rs2148842491	859	S>N		No	Ensembl
rs2148842477	859	S>R		No	Ensembl
rs2148842491	859	S>T		No	Ensembl
rs769005692	860	D>H		No	ExAC gnomAD
rs769005692	860	D>N		No	ExAC gnomAD
rs2148842448	860	D>V		No	Ensembl
rs769005692	860	D>Y		No	ExAC gnomAD
rs2148842426	861	V>D		No	Ensembl
rs2148842433	861	V>F		No	Ensembl
rs2148842433	861	V>L		No	Ensembl
rs2148842384	862	W>*		No	Ensembl
rs2148842366	862	W>*		No	Ensembl
rs2148842366	862	W>C		No	Ensembl
rs1722397264	862	W>R		No	TOPMed
rs2148842384	862	W>S		No	Ensembl
rs2148842353	863	S>I		No	Ensembl
rs2148842353	863	S>N		No	Ensembl
rs2148842323	863	S>R		No	Ensembl
rs2148842353	863	S>T		No	Ensembl
rs1405702376	864	Y>*		No	gnomAD
rs2148842275	865	G>A		No	Ensembl
rs2148842275	865	G>E		No	Ensembl
rs1722396602	865	G>R		No	Ensembl
rs2148842275	865	G>V		No	Ensembl
rs2148842257	866	I>K		No	Ensembl
rs2148842267	866	I>L		No	Ensembl
rs2148842257	866	I>R		No	Ensembl
rs1722396274	867	V>A		No	TOPMed
rs1722396274	867	V>E		No	TOPMed
rs2148842237	867	V>L		No	Ensembl
rs568892090	868	M>I		No	1000Genomes ExAC gnomAD
rs2148842196	868	M>K		No	Ensembl
rs2148842206	868	M>L		No	Ensembl
rs2148842127	869	W>*		No	Ensembl
rs138014411	869	W>*		No	ESP ExAC
rs2148842127	869	W>C		No	Ensembl
rs2148842157	869	W>G		No	Ensembl
rs138014411	869	W>L		No	ESP ExAC
rs2148842157	869	W>R		No	Ensembl
rs2148842087	870	E>D		No	Ensembl
rs2148842097	870	E>K		No	Ensembl
rs2148842097	870	E>Q		No	Ensembl
rs549051173	871	V>A		No	1000Genomes ExAC gnomAD
rs2148842073	871	V>I		No	Ensembl
rs2148842073	871	V>L		No	Ensembl
rs2148842019	872	V>E		No	Ensembl
rs1000101272	872	V>L		No	Ensembl
rs1000101272	872	V>M		No	Ensembl
rs2148841978	873	S>C		No	Ensembl
rs2148841978	873	S>F		No	Ensembl
rs2148841999	873	S>T		No	Ensembl
rs1722393796	874	Y>*		No	TOPMed
rs1268873174	874	Y>C		No	TOPMed
rs1268873174	874	Y>F		No	TOPMed
rs2148841903	875	G>A		No	Ensembl
rs2148841903	875	G>E		No	Ensembl
rs2148841932	875	G>R		No	Ensembl
rs2148841903	875	G>V		No	Ensembl
rs2148841855 COSM1056609	876	E>D	endometrium Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated Ensembl NCI-TCGA Cosmic
rs2148841874	876	E>K		No	Ensembl
rs2148841874	876	E>Q		No	Ensembl
rs2148841866	876	E>V		No	Ensembl
TCGA novel rs2148841836	877	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2148841836	877	R>G		No	Ensembl
rs745908821	877	R>I		No	ExAC gnomAD
rs745908821	877	R>K		No	ExAC gnomAD
rs2148841803	877	R>S		No	Ensembl
rs745908821	877	R>T		No	ExAC gnomAD
rs2148841779	878	P>A		No	Ensembl
COSM1540542 rs1195849754 COSM6167747	878	P>H	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic gnomAD
rs1195849754	878	P>L		No	gnomAD
rs1195849754	878	P>R		No	gnomAD
rs2148841779	878	P>S		No	Ensembl
TCGA novel	878	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel rs2148841703	879	Y>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs2148841714	879	Y>C		No	Ensembl
rs902936256	879	Y>D		No	Ensembl
rs2148841714	879	Y>F		No	Ensembl
rs902936256	879	Y>H		No	Ensembl
rs902936256	879	Y>N		No	Ensembl
rs2148841714	879	Y>S		No	Ensembl
rs1553896465	880	W>*		No	Ensembl
rs2148841663	880	W>C		No	Ensembl
rs1553896465	880	W>L		No	Ensembl
rs1246290968	880	W>R		No	gnomAD
rs1553896465	880	W>S		No	Ensembl
rs372762875	881	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC TOPMed gnomAD NCI-TCGA
rs777837022	881	E>G		No	ExAC TOPMed gnomAD
rs2148841647	881	E>K		No	Ensembl
rs2148841647	881	E>Q		No	Ensembl
rs2148841575	882	M>I		No	Ensembl
rs2148841597	882	M>K		No	Ensembl
rs201970590	882	M>L		No	Ensembl
rs201970590	882	M>V		No	Ensembl
rs1035072891	883	T>A		No	Ensembl
rs1722389432	883	T>I		No	Ensembl
rs1722389432	883	T>N		No	Ensembl
rs1035072891 COSM481401	883	T>S	kidney [Cosmic]	No	cosmic curated Ensembl
rs1722389432 COSM481401	883	T>S	kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2148841526	884	N>D		No	Ensembl
rs980546664	884	N>I		No	TOPMed
rs2148841496	884	N>K		No	Ensembl
rs980546664	884	N>S		No	TOPMed
rs2148841481	885	Q>E		No	Ensembl
rs2148841470	885	Q>H		No	Ensembl
rs2148841481	885	Q>K		No	Ensembl
rs1011255540	885	Q>P		No	TOPMed gnomAD
TCGA novel	886	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2148841445	886	D>G		No	Ensembl
rs2148841456	886	D>H		No	Ensembl
rs2148841456	886	D>N		No	Ensembl
rs2148814203	887	V>E		No	Ensembl
rs2148814203	887	V>G		No	Ensembl
rs2148814215	887	V>L		No	Ensembl
rs2148814215	887	V>M		No	Ensembl
rs2148814187	888	I>F		No	Ensembl
rs952886207	888	I>N		No	TOPMed gnomAD
rs952886207	888	I>S		No	TOPMed gnomAD
rs952886207	888	I>T		No	TOPMed gnomAD
rs2148814171	889	K>*		No	Ensembl
rs2148814155	889	K>N		No	Ensembl
rs778795902	890	A>E		No	ExAC TOPMed gnomAD
rs778795902	890	A>G		No	ExAC TOPMed gnomAD
rs2148814146	890	A>P		No	Ensembl
rs2148814146	890	A>S		No	Ensembl
COSM1056605 rs778795902	890	A>V	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs2148814102	891	V>E		No	Ensembl
rs2148814102	891	V>G		No	Ensembl
rs2148814109	891	V>I		No	Ensembl
rs2148814109	891	V>L		No	Ensembl
rs576826296	892	E>D		No	1000Genomes ExAC TOPMed gnomAD
rs1721157916	892	E>G		No	gnomAD
rs779738574	892	E>K		No	ExAC TOPMed gnomAD
rs779738574	892	E>Q		No	ExAC TOPMed gnomAD
rs2148814048	893	E>*		No	Ensembl
COSM4125546 rs2148814028	893	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2148814040	893	E>G		No	Ensembl
rs2148814048	893	E>K		No	Ensembl
rs2148814048	893	E>Q		No	Ensembl
rs2148814040	893	E>V		No	Ensembl
rs2148813999	894	G>A		No	Ensembl
rs749952186	894	G>C		No	ExAC gnomAD
rs2148813999	894	G>D		No	Ensembl
rs749952186	894	G>R		No	ExAC gnomAD
COSM1056603 rs749952186	894	G>S	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs2148813999	894	G>V		No	Ensembl
rs2148813962	895	Y>*		No	Ensembl
rs762405593	895	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs762405593	895	Y>F		No	ExAC gnomAD
rs1284386437	895	Y>H		No	Ensembl
rs556854839 COSM5925101	896	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD
rs556854839	896	R>G		No	1000Genomes ExAC gnomAD
COSM448026 rs764665078	896	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine haematopoietic_and_lymphoid_tissue breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1721155273	897	L>V		No	TOPMed gnomAD
rs1721154441	898	P>A		No	TOPMed gnomAD
rs1440672901	898	P>R		No	gnomAD
rs1721154441	898	P>S		No	TOPMed gnomAD
rs1721153774	899	S>N		No	Ensembl
rs2148813863	899	S>R		No	Ensembl
rs1721153774	899	S>T		No	Ensembl
rs2148813849	900	P>A		No	Ensembl
rs2148813832	900	P>H		No	Ensembl
rs2148813832	900	P>L		No	Ensembl
rs2148813832	900	P>R		No	Ensembl
rs2148813849	900	P>S		No	Ensembl
rs2148813792	901	M>I		No	Ensembl
rs2148813804 COSM420554	901	M>K	urinary_tract [Cosmic]	No	cosmic curated Ensembl
rs1445048658	901	M>V		No	gnomAD
rs770072252	902	D>A		No	ExAC TOPMed gnomAD
rs2148813767	902	D>E		No	Ensembl
rs1721152723	902	D>H		No	Ensembl
rs1721152723	902	D>N		No	Ensembl
rs1721152723	902	D>Y		No	Ensembl
rs1721152044	903	C>*		No	TOPMed
rs2148813756	903	C>S		No	Ensembl
rs2148813750	903	C>S		No	Ensembl
rs1721152044	903	C>W		No	TOPMed
rs2148813750	903	C>Y		No	Ensembl
rs2148813734	904	P>A		No	Ensembl
rs1721151748	904	P>H		No	Ensembl
rs1721151748	904	P>L		No	Ensembl
rs1721151748	904	P>R		No	Ensembl
rs2148813734	904	P>S		No	Ensembl
rs2148813697	905	A>G		No	Ensembl
rs970914164	905	A>P		No	TOPMed gnomAD
rs970914164	905	A>S		No	TOPMed gnomAD
rs970914164	905	A>T		No	TOPMed gnomAD
rs2148813697	905	A>V		No	Ensembl
rs2148813665	906	A>G		No	Ensembl
rs2148813678	906	A>P		No	Ensembl
rs2148813678	906	A>S		No	Ensembl
rs2148813678	906	A>T		No	Ensembl
rs2148813665	906	A>V		No	Ensembl
rs747056219	907	L>F		No	1000Genomes ExAC TOPMed gnomAD
rs2148813642	907	L>P		No	Ensembl
rs2148813642	907	L>R		No	Ensembl
rs747056219 COSM3940912	907	L>V	oesophagus [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs2148813602	908	Y>*		No	Ensembl
rs1721148660	908	Y>C		No	TOPMed gnomAD
rs778883862	908	Y>H		No	ExAC TOPMed gnomAD
rs1721148660	908	Y>S		No	TOPMed gnomAD
rs2148813592	909	Q>*		No	Ensembl
rs2148813592	909	Q>E		No	Ensembl
TCGA novel rs2148813575	909	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs1369235391	909	Q>L		No	Ensembl
rs1369235391	909	Q>R		No	Ensembl
rs1309130536	910	L>F		No	gnomAD
rs768566766	910	L>I		No	ExAC TOPMed gnomAD
COSM448025 rs1721147182	911	M>I	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	cosmic curated Ensembl NCI-TCGA Cosmic
rs2148813537	911	M>K		No	Ensembl
rs2148813545	911	M>L		No	Ensembl
rs2148813511	912	L>M		No	Ensembl
rs2148813505	912	L>Q		No	Ensembl
rs2148813511	912	L>V		No	Ensembl
rs2148813460	913	D>E		No	Ensembl
rs1721146507	913	D>G		No	gnomAD
rs878919973	913	D>H		No	Ensembl
rs878919973 TCGA novel	913	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs878919973	913	D>Y		No	Ensembl
rs2148813454	914	C>S		No	Ensembl
rs2148813439	914	C>S		No	Ensembl
rs2148813439	914	C>Y		No	Ensembl
rs2148813407	915	W>*		No	Ensembl
rs2148813424	915	W>*		No	Ensembl
rs2148813407	915	W>C		No	Ensembl
rs2148813424	915	W>L		No	Ensembl
rs2148813435	915	W>R		No	Ensembl
rs2148813424	915	W>S		No	Ensembl
rs2148813397	916	Q>*		No	Ensembl
rs2148813383	916	Q>H		No	Ensembl
rs367883786	917	K>I		No	ESP ExAC TOPMed gnomAD
rs1378279423	918	E>D		No	TOPMed gnomAD
rs146343247 COSM1056601	919	R>*	Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs146343247	919	R>G		No	ESP TOPMed gnomAD
rs1721144310	919	R>L		No	TOPMed gnomAD
rs1721144310	919	R>P		No	TOPMed gnomAD
rs1721144310	919	R>Q		No	TOPMed gnomAD
rs1577843547	920	N>H		No	Ensembl
rs779646040	920	N>I		No	ExAC gnomAD
rs375324566	920	N>K		No	ESP ExAC TOPMed gnomAD
rs1577843547	920	N>Y		No	Ensembl
rs2148813281	921	S>I		No	Ensembl
rs2148813281	921	S>N		No	Ensembl
rs749996486	921	S>R		No	ExAC TOPMed gnomAD
rs2148813281	921	S>T		No	Ensembl
rs2148813262	922	R>G		No	Ensembl
rs2148813250	922	R>K		No	Ensembl
COSM6100620	922	R>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2148813244	922	R>S		No	Ensembl
rs2148813250	922	R>T		No	Ensembl
rs2148813235	923	P>A		No	Ensembl
rs2148813222	923	P>H		No	Ensembl
rs2148813222	923	P>L		No	Ensembl
rs2148813222	923	P>R		No	Ensembl
rs2148813235 COSM5608412	923	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2148813235	923	P>T		No	Ensembl
rs2148813201	924	K>E		No	Ensembl
rs1721142519	924	K>M		No	TOPMed
rs2148813185	924	K>N		No	Ensembl
COSM588066	924	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs780877087	925	F>C		No	ExAC TOPMed gnomAD
rs2148813173	925	F>I		No	Ensembl
rs2148813157	925	F>L		No	Ensembl
rs780877087	925	F>S		No	ExAC TOPMed gnomAD
rs2148813173	925	F>V		No	Ensembl
rs2148813141	926	D>E		No	Ensembl
rs2148813149	926	D>H		No	Ensembl
rs2148813149	926	D>N		No	Ensembl
rs2148813149	926	D>Y		No	Ensembl
rs2148813128	927	E>*		No	Ensembl
TCGA novel	927	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2148813128	927	E>K		No	Ensembl
rs2148813128	927	E>Q		No	Ensembl
rs2148813120	927	E>V		No	Ensembl
rs2148813091	928	I>K		No	Ensembl
rs2148813106	928	I>L		No	Ensembl
rs2148813084	928	I>M		No	Ensembl
rs2148813091	928	I>R		No	Ensembl
rs2148813091	928	I>T		No	Ensembl
rs2148813106	928	I>V		No	Ensembl
rs756867916	929	V>A		No	ExAC gnomAD
rs756867916	929	V>D		No	ExAC gnomAD
rs2148813073 TCGA novel	929	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2148813073	929	V>I		No	Ensembl
rs2148813073	929	V>L		No	Ensembl
rs1721140841	930	N>D		No	Ensembl
rs1721140222	930	N>I		No	TOPMed
rs2148813007	930	N>K		No	Ensembl
rs1721140222	930	N>S		No	TOPMed
rs1721140222	930	N>T		No	TOPMed
rs1415093400	931	M>I		No	gnomAD
rs922965024	931	M>K		No	TOPMed gnomAD
rs773369279	931	M>L		No	Ensembl
rs922965024	931	M>T		No	TOPMed gnomAD
rs773369279 COSM1291943	931	M>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs2148812960	932	L>*		No	Ensembl
COSM332042 COSM6167749 rs2148812948 COSM1540544	932	L>F	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated Ensembl NCI-TCGA Cosmic
rs2148812967	932	L>M		No	Ensembl
rs200045329	933	D>E		No	1000Genomes ExAC TOPMed gnomAD
rs1721138764	933	D>H		No	Ensembl
rs1721138764	933	D>N		No	Ensembl
rs1721138764	933	D>Y		No	Ensembl
rs764760869	934	K>*		No	ExAC gnomAD
rs764760869	934	K>E		No	ExAC gnomAD
rs2148812912 COSM1430535	934	K>N	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated Ensembl NCI-TCGA Cosmic
rs2148812901	935	L>M		No	Ensembl
rs2148812891	935	L>Q		No	Ensembl
rs2148812901	935	L>V		No	Ensembl
rs2148812863	936	I>K		No	Ensembl
rs1268790168	936	I>L		No	TOPMed gnomAD
rs1268790168	936	I>V		No	TOPMed gnomAD
rs142359231	937	R>C		No	ESP ExAC TOPMed gnomAD
rs142359231	937	R>G		No	ESP ExAC TOPMed gnomAD
rs753118521	937	R>H		No	ExAC TOPMed gnomAD
rs753118521	937	R>L		No	ExAC TOPMed gnomAD
rs753118521	937	R>P		No	ExAC TOPMed gnomAD
rs1721136132	938	N>I		No	Ensembl
rs1721136132	938	N>S		No	Ensembl
rs1721136132	938	N>T		No	Ensembl
rs769726036	939	P>A		No	Ensembl
rs747879677	939	P>L		No	Ensembl
rs747879677	939	P>Q		No	Ensembl
rs747879677	939	P>R		No	Ensembl
rs769726036	939	P>S		No	Ensembl
rs769726036	939	P>T		No	Ensembl
rs200462532	940	S>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs766614671	940	S>N		No	ExAC TOPMed gnomAD
rs760801092	940	S>R		No	ExAC TOPMed gnomAD
rs200462532	940	S>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs766614671	940	S>T		No	ExAC TOPMed gnomAD
rs2148812694	941	S>C		No	Ensembl
rs2148812679	941	S>N		No	Ensembl
rs2148812668	941	S>R		No	Ensembl
rs2148812679	941	S>T		No	Ensembl
rs2148812644	942	L>P		No	Ensembl
rs2148812644	942	L>Q		No	Ensembl
rs2148812657	942	L>V		No	Ensembl
rs2148812627	943	K>E		No	Ensembl
rs2148812609	943	K>M		No	Ensembl
rs762980975	943	K>N		No	Ensembl
rs2148812609	943	K>R		No	Ensembl
rs773217274 COSM1291942	944	T>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs773217274	944	T>R		No	ExAC TOPMed gnomAD
rs2148812573	944	T>S		No	Ensembl
rs2148812527	945	L>Q		No	Ensembl
rs1297893678	946	V>F		No	gnomAD
rs1297893678	946	V>I		No	gnomAD
rs1297893678	946	V>L		No	gnomAD
rs2148812462	947	N>I		No	Ensembl
rs2148812462	947	N>S		No	Ensembl
rs749181385	947	N>Y		No	ExAC TOPMed gnomAD
rs2148812434	948	A>E		No	Ensembl
rs2148812434	948	A>G		No	Ensembl
rs775380004	948	A>P		No	ExAC TOPMed gnomAD
rs775380004	948	A>S		No	ExAC TOPMed gnomAD
rs775380004	948	A>T		No	ExAC TOPMed gnomAD
COSM3974978 rs2148812434	948	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1721129819	949	S>C		No	gnomAD
rs1721129819	949	S>F		No	gnomAD
rs181148552	949	S>P		No	1000Genomes TOPMed
rs181148552	949	S>T		No	1000Genomes TOPMed
rs1721129819	949	S>Y		No	gnomAD
rs2148812339	950	C>*		No	Ensembl
rs2148812356	950	C>R		No	Ensembl
rs2148812356	950	C>S		No	Ensembl
rs769528049	950	C>S		No	ExAC gnomAD
rs2148812339	950	C>W		No	Ensembl
rs769528049	950	C>Y		No	ExAC gnomAD
rs2148812331	951	R>G		No	Ensembl
rs2148812320	951	R>K		No	Ensembl
rs377047530	951	R>S		No	ESP ExAC
rs2148812320	951	R>T		No	Ensembl
rs776432090	953	S>C		No	ExAC TOPMed gnomAD
rs776432090	953	S>F		No	ExAC TOPMed gnomAD
rs776432090	953	S>Y		No	ExAC TOPMed gnomAD
rs1400133569	954	N>D		No	gnomAD
rs2148799658	954	N>S		No	Ensembl
COSM5437492	954	N>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1400133569	954	N>Y		No	gnomAD
TCGA novel	955	L>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs770716633	955	L>F		No	ExAC gnomAD
rs2148799635	955	L>I		No	Ensembl
rs2148799594	956	L>F		No	Ensembl
rs2148799550	957	A>G		No	Ensembl
rs373548243	957	A>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs373548243	957	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs373548243	957	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2148799550	957	A>V		No	Ensembl
rs777543140	958	E>*		No	ExAC gnomAD
rs771745177	958	E>D		No	ExAC gnomAD
rs777543140	958	E>K		No	ExAC gnomAD
rs777543140	958	E>Q		No	ExAC gnomAD
rs1720679841	958	E>V		No	Ensembl
rs200305031	959	H>D		No	ExAC TOPMed gnomAD
rs56312931	959	H>L		No	1000Genomes ExAC TOPMed gnomAD
rs56312931	959	H>P		No	1000Genomes ExAC TOPMed gnomAD
rs56312931 VAR_042147	959	H>R		No	UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs200305031	959	H>Y		No	ExAC TOPMed gnomAD
rs2148799448	960	S>C		No	Ensembl
rs2148799448	960	S>G		No	Ensembl
rs1456401802	960	S>I		No	TOPMed gnomAD
rs1456401802	960	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2148799423	960	S>R		No	Ensembl
rs1456401802	960	S>T		No	TOPMed gnomAD
rs754158214	961	P>A		No	ExAC TOPMed gnomAD
rs2148799389	961	P>L		No	Ensembl
rs2148799389	961	P>Q		No	Ensembl
rs754158214	961	P>S		No	ExAC TOPMed gnomAD
rs754158214	961	P>T		No	ExAC TOPMed gnomAD
rs2148799368	962	L>I		No	Ensembl
rs2148799360	962	L>Q		No	Ensembl
rs2148799368	962	L>V		No	Ensembl
rs1341530122	963	G>A		No	TOPMed gnomAD
rs2148799340	963	G>R		No	Ensembl
rs780354388	964	S>A		No	ExAC gnomAD
rs1720675659	964	S>C		No	TOPMed
rs1720675659	964	S>F		No	TOPMed
rs780354388	964	S>T		No	ExAC gnomAD
COSM481400 rs1720675659	964	S>Y	kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs2148799239	965	G>A		No	Ensembl
rs2148799250	965	G>R		No	Ensembl
TCGA novel rs2148799239	965	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2148799250	965	G>W		No	Ensembl
rs750694433	966	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1444978371	967	Y>*		No	gnomAD
rs1720673876	967	Y>C		No	TOPMed
rs1720673876	967	Y>F		No	TOPMed
rs1306100263	967	Y>H		No	TOPMed gnomAD
rs1376867348	968	R>*		No	gnomAD
rs1376867348	968	R>G		No	gnomAD
rs2148799148 COSM1430534	968	R>I	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2148799148	968	R>K		No	Ensembl
rs763487248	968	R>S		No	TOPMed
rs2148799148	968	R>T		No	Ensembl
rs2148799121	969	S>*		No	Ensembl
rs2148799121	969	S>L		No	Ensembl
rs1720672732	969	S>P		No	TOPMed
rs1720672732	969	S>T		No	TOPMed
rs2148799074	970	V>E		No	Ensembl
rs2148799074	970	V>G		No	Ensembl
rs2148799095	970	V>I		No	Ensembl
rs2148799095	970	V>L		No	Ensembl
rs761866651	971	G>A		No	ExAC gnomAD
rs2148799044	971	G>C		No	Ensembl
rs761866651	971	G>D		No	ExAC gnomAD
rs2148799044	971	G>R		No	Ensembl
rs2148799044	971	G>S		No	Ensembl
rs761866651	971	G>V		No	ExAC gnomAD
rs2148799002	972	E>*		No	Ensembl
rs2148798979	972	E>D		No	Ensembl
rs2148799002	972	E>K		No	Ensembl
rs2148799002	972	E>Q		No	Ensembl
rs2148798989	972	E>V		No	Ensembl
rs2148798943	973	W>*		No	Ensembl
rs2148798930	973	W>*		No	Ensembl
rs2148798930	973	W>C		No	Ensembl
rs2148798966	973	W>G		No	Ensembl
rs2148798943	973	W>L		No	Ensembl
rs2148798966	973	W>R		No	Ensembl
rs2148798943	973	W>S		No	Ensembl
rs1720671510	974	L>I		No	Ensembl
rs2148798910	974	L>Q		No	Ensembl
rs1720671510	974	L>V		No	Ensembl
rs1398008541	975	E>*		No	gnomAD
rs751646403	975	E>D		No	ExAC gnomAD
rs1398008541	975	E>K		No	gnomAD
rs1398008541	975	E>Q		No	gnomAD
rs2148798873	975	E>V		No	Ensembl
TCGA novel	976	A>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2148798839	976	A>G		No	Ensembl
rs1720670648	976	A>T		No	gnomAD
rs2148798839	976	A>V		No	Ensembl
rs2148798778	977	I>M		No	Ensembl
rs2148798808	977	I>N		No	Ensembl
rs2148798808	977	I>S		No	Ensembl
rs2148798808	977	I>T		No	Ensembl
rs2148798758	978	K>M		No	Ensembl
rs2148798740	978	K>N		No	Ensembl
rs2148798770	978	K>Q		No	Ensembl
rs2148798699	979	M>I		No	Ensembl
rs2148798718	979	M>K		No	Ensembl
rs2148798718	979	M>R		No	Ensembl
rs2148798718	979	M>T		No	Ensembl
rs1560417663	979	M>V		No	TOPMed
rs765103637	980	G>A		No	ExAC TOPMed gnomAD
rs2148798680	980	G>C		No	Ensembl
rs765103637	980	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2148798680	980	G>R		No	Ensembl
rs2148798680	980	G>S		No	Ensembl
rs765103637	980	G>V		No	ExAC TOPMed gnomAD
rs770802873 COSM98978	981	R>L	stomach [Cosmic]	No	cosmic curated ExAC gnomAD
rs770802873	981	R>P		No	ExAC gnomAD
rs770802873	981	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
COSM448024 rs755988244	981	R>W	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1274180012	982	Y>*		No	TOPMed
rs2148798598	982	Y>D		No	Ensembl
rs2148798598	982	Y>N		No	Ensembl
rs1342706923	983	T>A		No	TOPMed
rs1220467150	983	T>I		No	TOPMed gnomAD
rs1220467150	983	T>R		No	TOPMed gnomAD
rs1342706923	983	T>S		No	TOPMed
rs2148798516	984	E>*		No	Ensembl
rs2148798481	984	E>D		No	Ensembl
rs2148798516	984	E>K		No	Ensembl
rs2148798516	984	E>Q		No	Ensembl
rs2148798500	984	E>V		No	Ensembl
rs760511761	985	I>N		No	ExAC gnomAD
rs2148798440	986	F>L		No	Ensembl
TCGA novel	986	F>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2148798462	986	F>Y		No	Ensembl
rs2148798400	987	M>I		No	Ensembl
rs1720667865	987	M>L		No	TOPMed
rs1179160819	987	M>T		No	TOPMed gnomAD
rs1720667865	987	M>V		No	TOPMed
rs1720667234	988	E>G		No	Ensembl
rs1439699474	990	G>*		No	gnomAD
rs2148798358	990	G>A		No	Ensembl
rs2148798358	990	G>E		No	Ensembl
rs1439699474	990	G>R		No	gnomAD
rs2148798358	990	G>V		No	Ensembl
rs2148798320	991	Y>*		No	Ensembl
rs2148798334	991	Y>C		No	Ensembl
rs2148798351	991	Y>D		No	Ensembl
rs2148798334	991	Y>F		No	Ensembl
rs2148798351	991	Y>N		No	Ensembl
rs773062561	992	S>I		No	ExAC TOPMed gnomAD
rs773062561	992	S>N		No	ExAC TOPMed gnomAD
rs2148798308	992	S>R		No	Ensembl
rs575784608	992	S>R		No	1000Genomes ExAC gnomAD
rs773062561	992	S>T		No	ExAC TOPMed gnomAD
rs74487329	993	S>*		No	Ensembl
rs74487329	993	S>L		No	Ensembl
rs2148798225	994	M>I		No	Ensembl
rs2148798239	994	M>K		No	Ensembl
rs2148798250	994	M>L		No	Ensembl
rs2148798250	994	M>V		No	Ensembl
COSM4125544	995	D>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs188116759	995	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs563678006	995	D>H		No	1000Genomes ExAC gnomAD
rs563678006	995	D>N		No	1000Genomes ExAC gnomAD
rs563678006	995	D>Y		No	1000Genomes ExAC gnomAD
rs2148798161	996	A>G		No	Ensembl
rs1238493512	996	A>P		No	gnomAD
COSM1540545 rs1238493512	996	A>S	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated gnomAD
rs1238493512	996	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs2148798161	996	A>V		No	Ensembl
rs2148798116	997	V>A		No	Ensembl
rs2148798116	997	V>E		No	Ensembl
rs2148798116	997	V>G		No	Ensembl
rs147053536	997	V>L		No	ESP
rs147053536	997	V>M		No	ESP
rs1310721990	998	A>P		No	gnomAD
rs1310721990	998	A>S		No	gnomAD
COSM236416 rs1310721990	998	A>T	autonomic_ganglia [Cosmic]	No	cosmic curated gnomAD
rs183192179	998	A>V		No	1000Genomes
rs2148798042	999	Q>*		No	Ensembl
rs2148798042	999	Q>E		No	Ensembl
rs769074454	999	Q>H		No	ExAC gnomAD
rs2148798042	999	Q>K		No	Ensembl
rs2148798012	1000	V>A		No	Ensembl
rs2148798012	1000	V>E		No	Ensembl
rs2148798022	1000	V>L		No	Ensembl
rs2148798022	1000	V>M		No	Ensembl
rs1159602315	1001	T>I		No	gnomAD
rs1159602315	1001	T>N		No	gnomAD
rs1159602315	1001	T>S		No	gnomAD
rs2148797982	1001	T>S		No	Ensembl
rs2148797920	1002	L>*		No	Ensembl
rs200855979	1002	L>F		No	ExAC gnomAD
rs2148777186	1003	E>D		No	Ensembl
rs1720661631	1003	E>G		No	Ensembl
rs2148797892	1003	E>K		No	Ensembl
rs2148797892	1003	E>Q		No	Ensembl
rs2148777168	1004	D>H		No	Ensembl
rs2148777168	1004	D>N		No	Ensembl
rs2148777160	1004	D>V		No	Ensembl
rs2148777126	1006	R>*		No	Ensembl
rs1218429128	1006	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs143311758	1006	R>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1218429128	1006	R>T		No	TOPMed gnomAD
rs777838691	1007	R>G		No	ExAC TOPMed gnomAD
COSM387445 rs145811811	1007	R>L	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC TOPMed gnomAD
rs145811811	1007	R>P		No	ESP ExAC TOPMed gnomAD
COSM48335 rs145811811	1007	R>Q	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
COSM4125543 rs777838691	1007	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs2148777032	1008	L>F		No	Ensembl
rs2148777025	1008	L>H		No	Ensembl
rs2148777032	1008	L>I		No	Ensembl
rs2148777032	1008	L>V		No	Ensembl
rs2148777002	1009	G>*		No	Ensembl
rs2148776986	1009	G>A		No	Ensembl
rs2148776986	1009	G>E		No	Ensembl
rs2148776986	1009	G>V		No	Ensembl
rs2148776962	1010	V>L		No	Ensembl
rs1339477626	1011	T>I		No	gnomAD
rs1339477626	1011	T>N		No	gnomAD
rs1339477626	1011	T>S		No	gnomAD
rs1183634936	1011	T>S		No	TOPMed gnomAD
rs766428215	1012	L>F		No	ExAC gnomAD
rs766428215	1012	L>V		No	ExAC gnomAD
rs2148776871	1013	V>D		No	Ensembl
rs1203055827	1013	V>I		No	TOPMed gnomAD
rs1203055827	1013	V>L		No	TOPMed gnomAD
rs2148776823	1014	G>A		No	Ensembl
rs149835568	1014	G>C		No	ESP ExAC TOPMed gnomAD
rs2148776823	1014	G>D		No	Ensembl
rs149835568	1014	G>R		No	ESP ExAC TOPMed gnomAD
COSM733906 rs149835568	1014	G>S	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs2148776791	1015	H>D		No	Ensembl
rs1719860911	1015	H>Q		No	gnomAD
rs2148776791	1015	H>Y		No	Ensembl
rs2148776766	1016	Q>*		No	Ensembl
rs2148776766	1016	Q>E		No	Ensembl
rs2148776753	1016	Q>H		No	Ensembl
rs2148776766	1016	Q>K		No	Ensembl
rs2148776741	1017	K>E		No	Ensembl
rs2148776733	1017	K>M		No	Ensembl
rs1719860686	1017	K>N		No	TOPMed
COSM4125542	1018	K>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2148776709	1018	K>N		No	Ensembl
rs1719860039	1019	I>M		No	gnomAD
rs2148776692 COSM265442	1019	I>N	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1260909452	1020	M>I		No	TOPMed gnomAD
rs1719859812	1020	M>K		No	Ensembl
rs1719859812	1020	M>T		No	Ensembl
rs2148776668	1020	M>V		No	Ensembl
rs2148776621	1021	N>I		No	Ensembl
rs141088985	1021	N>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2148776621	1021	N>T		No	Ensembl
rs2148776598	1022	S>I		No	Ensembl
rs2148776598	1022	S>N		No	Ensembl
rs56037197	1022	S>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2148776598	1022	S>T		No	Ensembl
rs2148776567	1023	L>H		No	Ensembl
rs2148776547	1024	Q>*		No	Ensembl
rs2148776547	1024	Q>E		No	Ensembl
rs1032457637	1025	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1032457637	1025	E>K		No	TOPMed
rs1032457637 COSM4829495	1025	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed
COSM4992167 rs763651163	1026	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD NCI-TCGA Cosmic
rs2148776516	1026	M>L		No	Ensembl
rs2148776493	1027	K>E		No	Ensembl
rs2148776479	1027	K>M		No	Ensembl
rs2148776479	1027	K>R		No	Ensembl
rs1465144174	1028	V>A		No	gnomAD
rs1465144174	1028	V>E		No	gnomAD
rs1719858274	1028	V>L		No	Ensembl
rs1719858274	1028	V>M		No	Ensembl
rs2148776408	1029	Q>*		No	Ensembl
rs2148776408	1029	Q>E		No	Ensembl
rs770291923	1029	Q>H		No	ExAC gnomAD
TCGA novel	1029	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs144528528	1029	Q>R		No	ESP ExAC
rs746338811	1030	L>P		No	ExAC gnomAD
rs746338811	1030	L>Q		No	ExAC gnomAD
rs2148776368	1030	L>V		No	Ensembl
rs2148776336	1031	V>I		No	Ensembl
rs2148776336	1031	V>L		No	Ensembl
rs1194592338	1032	N>D		No	gnomAD
rs1194592338	1032	N>H		No	gnomAD
rs777006749	1032	N>K		No	ExAC TOPMed gnomAD
VAR_042148	1032	N>S	a lung large cell carcinoma sample; somatic mutation [UniProt]	No	UniProt
rs139793674	1033	G>*		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2148776271	1033	G>A		No	Ensembl
rs2148776271	1033	G>E		No	Ensembl
rs139793674 COSM1580851	1033	G>R	Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD NCI-TCGA Cosmic NCI-TCGA
rs2148776271	1033	G>V		No	Ensembl
rs2148776240 COSM48334	1034	M>I	lung [Cosmic]	No	cosmic curated Ensembl
rs2148776248	1034	M>K		No	Ensembl
rs200525613	1034	M>L		No	ExAC TOPMed gnomAD
COSM1430533 rs200525613	1034	M>V	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs2148776216	1035	V>E		No	Ensembl
rs758487170	1035	V>L		No	ExAC TOPMed gnomAD
rs758487170	1035	V>M		No	ExAC TOPMed gnomAD
rs1719853653 COSM48333	1036	P>A	lung [Cosmic]	No	cosmic curated Ensembl
rs779095564	1036	P>L		No	ExAC TOPMed gnomAD
rs779095564	1036	P>R		No	ExAC TOPMed gnomAD
rs1719853653	1036	P>S		No	Ensembl
rs1719853653	1036	P>T		No	Ensembl
rs55784741 COSM1618987	1037	L>F	liver [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs2148776135	1038	L>K		No	Ensembl
rs2148776148	1038	L>N		No	Ensembl
rs2148776135	1038	L>Q		No	Ensembl
rs2148776122	1038	L>Y		No	Ensembl

3 associated diseases with P54756

[MIM: 211600]: Cholestasis, progressive familial intrahepatic, 1 (PFIC1)

A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC1 inheritance is autosomal recessive. {ECO:0000269|PubMed:11093741, ECO:0000269|PubMed:15239083, ECO:0000269|PubMed:19731236, ECO:0000269|PubMed:20038848, ECO:0000269|PubMed:23197899, ECO:0000269|PubMed:25315773, ECO:0000269|PubMed:9500542}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 243300]: Cholestasis, benign recurrent intrahepatic, 1 (BRIC1)

A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically. {ECO:0000269|PubMed:15239083, ECO:0000269|PubMed:19731236, ECO:0000269|PubMed:25315773, ECO:0000269|PubMed:9500542, ECO:0000269|PubMed:9918928}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 147480]: Cholestasis of pregnancy, intrahepatic 1 (ICP1)

A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. Cholestasis results from abnormal biliary transport from the liver into the small intestine. ICP1 causes fetal distress, spontaneous premature delivery and intrauterine death. ICP1 patients have spontaneous and progressive disappearance of cholestasis after delivery. {ECO:0000269|PubMed:15657619, ECO:0000269|PubMed:15888793, ECO:0000269|PubMed:19731236}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC1 inheritance is autosomal recessive. {ECO:0000269|PubMed:11093741, ECO:0000269|PubMed:15239083, ECO:0000269|PubMed:19731236, ECO:0000269|PubMed:20038848, ECO:0000269|PubMed:23197899, ECO:0000269|PubMed:25315773, ECO:0000269|PubMed:9500542}. Note=The disease is caused by variants affecting the gene represented in this entry.
A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically. {ECO:0000269|PubMed:15239083, ECO:0000269|PubMed:19731236, ECO:0000269|PubMed:25315773, ECO:0000269|PubMed:9500542, ECO:0000269|PubMed:9918928}. Note=The disease is caused by variants affecting the gene represented in this entry.
A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. Cholestasis results from abnormal biliary transport from the liver into the small intestine. ICP1 causes fetal distress, spontaneous premature delivery and intrauterine death. ICP1 patients have spontaneous and progressive disappearance of cholestasis after delivery. {ECO:0000269|PubMed:15657619, ECO:0000269|PubMed:15888793, ECO:0000269|PubMed:19731236}. Note=The disease may be caused by variants affecting the gene represented in this entry.

12 regional properties for P54756

Type	Name	Position	InterPro Accession
domain	C2 domain	160 - 280	IPR000008
domain	Protein kinase domain	348 - 609	IPR000719
domain	AGC-kinase, C-terminal	610 - 681	IPR000961
domain	Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	38 - 89	IPR002219-1
domain	Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	103 - 155	IPR002219-2
active_site	Serine/threonine-protein kinase, active site	468 - 480	IPR008271
binding_site	Protein kinase, ATP binding site	354 - 377	IPR017441
domain	Protein kinase, C-terminal	631 - 671	IPR017892
domain	Diacylglycerol/phorbol-ester binding	36 - 50	IPR020454-1
domain	Diacylglycerol/phorbol-ester binding	52 - 61	IPR020454-2
domain	Diacylglycerol/phorbol-ester binding	65 - 76	IPR020454-3
domain	Diacylglycerol/phorbol-ester binding	142 - 154	IPR020454-4

Functions

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

7 GO annotations of cellular component

Name	Definition
axon	The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
external side of plasma membrane	The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
rough endoplasmic reticulum	The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ephrin receptor activity	Combining with an ephrin receptor ligand to initiate a change in cell activity.
GPI-linked ephrin receptor activity	Combining with a GPI-anchored ephrin to initiate a change in cell activity.
transmembrane-ephrin receptor activity	Combining with a transmembrane ephrin to initiate a change in cell activity.

10 GO annotations of biological process

Name	Definition
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
cAMP-mediated signaling	Any intracellular signal transduction in which the signal is passed on within the cell via cyclic AMP (cAMP). Includes production of cAMP, and downstream effectors that further transmit the signal within the cell.
ephrin receptor signaling pathway	The series of molecular signals initiated by ephrin binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
hippocampus development	The progression of the hippocampus over time from its initial formation until its mature state.
neuron development	The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell.
phosphorylation	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
positive regulation of CREB transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of the transcription factor CREB.
regulation of actin cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of GTPase activity	Any process that modulates the rate of GTP hydrolysis by a GTPase.
regulation of insulin secretion involved in cellular response to glucose stimulus	Any process that modulates the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose.

49 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P28693	EPHB2	Ephrin type-B receptor 2	Gallus gallus (Chicken)	PR
Q07496	EPHA4	Ephrin type-A receptor 4	Gallus gallus (Chicken)	SS
Q07494	EPHB1	Ephrin type-B receptor 1	Gallus gallus (Chicken)	SS
Q07497	EPHB5	Ephrin type-B receptor 5	Gallus gallus (Chicken)	PR
P29318	EPHA3	Ephrin type-A receptor 3	Gallus gallus (Chicken)	SS
O42422	EPHA7	Ephrin type-A receptor 7	Gallus gallus (Chicken)	SS
Q07498	EPHB3	Ephrin type-B receptor 3	Gallus gallus (Chicken)	SS
P54755	EPHA5	Ephrin type-A receptor 5	Gallus gallus (Chicken)	SS
P0C0K6	EPHB6	Ephrin type-B receptor 6	Pan troglodytes (Chimpanzee)	SS
P21709	EPHA1	Ephrin type-A receptor 1	Homo sapiens (Human)	SS
P54760	EPHB4	Ephrin type-B receptor 4	Homo sapiens (Human)	SS
P29317	EPHA2	Ephrin type-A receptor 2	Homo sapiens (Human)	SS
Q15375	EPHA7	Ephrin type-A receptor 7	Homo sapiens (Human)	SS
Q9UF33	EPHA6	Ephrin type-A receptor 6	Homo sapiens (Human)	SS
P54762	EPHB1	Ephrin type-B receptor 1	Homo sapiens (Human)	SS
P29322	EPHA8	Ephrin type-A receptor 8	Homo sapiens (Human)	SS
P29320	EPHA3	Ephrin type-A receptor 3	Homo sapiens (Human)	PR
P54764	EPHA4	Ephrin type-A receptor 4	Homo sapiens (Human)	SS
P54753	EPHB3	Ephrin type-B receptor 3	Homo sapiens (Human)	SS
Q5JZY3	EPHA10	Ephrin type-A receptor 10	Homo sapiens (Human)	SS
O15197	EPHB6	Ephrin type-B receptor 6	Homo sapiens (Human)	SS
P29323	EPHB2	Ephrin type-B receptor 2	Homo sapiens (Human)	EV
P54754	Ephb3	Ephrin type-B receptor 3	Mus musculus (Mouse)	SS
Q03145	Epha2	Ephrin type-A receptor 2	Mus musculus (Mouse)	PR
Q03137	Epha4	Ephrin type-A receptor 4	Mus musculus (Mouse)	SS
Q61772	Epha7	Ephrin type-A receptor 7	Mus musculus (Mouse)	SS
O09127	Epha8	Ephrin type-A receptor 8	Mus musculus (Mouse)	SS
Q8CBF3	Ephb1	Ephrin type-B receptor 1	Mus musculus (Mouse)	SS
Q8BYG9	Epha10	Ephrin type-A receptor 10	Mus musculus (Mouse)	SS
P29319	Epha3	Ephrin type-A receptor 3	Mus musculus (Mouse)	SS
Q62413	Epha6	Ephrin type-A receptor 6	Mus musculus (Mouse)	SS
Q60750	Epha1	Ephrin type-A receptor 1	Mus musculus (Mouse)	SS
P54763	Ephb2	Ephrin type-B receptor 2	Mus musculus (Mouse)	SS
P54761	Ephb4	Ephrin type-B receptor 4	Mus musculus (Mouse)	PR
O08644	Ephb6	Ephrin type-B receptor 6	Mus musculus (Mouse)	PR
Q60629	Epha5	Ephrin type-A receptor 5	Mus musculus (Mouse)	SS
P54759	Epha7	Ephrin type-A receptor 7	Rattus norvegicus (Rat)	SS
P09759	Ephb1	Ephrin type-B receptor 1	Rattus norvegicus (Rat)	SS
P0C0K7	Ephb6	Ephrin type-B receptor 6	Rattus norvegicus (Rat)	SS
O08680	Epha3	Ephrin type-A receptor 3	Rattus norvegicus (Rat)	SS
P54757	Epha5	Ephrin type-A receptor 5	Rattus norvegicus (Rat)	SS
O61460	vab-1	Ephrin receptor 1	Caenorhabditis elegans	SS
Q8RWZ5	SD25	G-type lectin S-receptor-like serine/threonine-protein kinase SD2-5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q94AG2	SERK1	Somatic embryogenesis receptor kinase 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q3E991	PRK6	Pollen receptor-like kinase 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FXF2	RKF1	Probable LRR receptor-like serine/threonine-protein kinase RFK1	Arabidopsis thaliana (Mouse-ear cress)	PR
O13147	ephb3	Ephrin type-B receptor 3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O73878	ephb4b	Ephrin type-B receptor 4b	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O13146	epha3	Ephrin type-A receptor 3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MRGSGPRGAG	RRRPPSGGGD	TPITPASLAG	CYSAPRRAPL	WTCLLLCAAL	RTLLASPSNE
70	80	90	100	110	120
VNLLDSRTVM	GDLGWIAFPK	NGWEEIGEVD	ENYAPIHTYQ	VCKVMEQNQN	NWLLTSWISN
130	140	150	160	170	180
EGASRIFIEL	KFTLRDCNSL	PGGLGTCKET	FNMYYFESDD	QNGRNIKENQ	YIKIDTIAAD
190	200	210	220	230	240
ESFTELDLGD	RVMKLNTEVR	DVGPLSKKGF	YLAFQDVGAC	IALVSVRVYY	KKCPSVVRHL
250	260	270	280	290	300
AVFPDTITGA	DSSQLLEVSG	SCVNHSVTDE	PPKMHCSAEG	EWLVPIGKCM	CKAGYEEKNG
310	320	330	340	350	360
TCQVCRPGFF	KASPHIQSCG	KCPPHSYTHE	EASTSCVCEK	DYFRRESDPP	TMACTRPPSA
370	380	390	400	410	420
PRNAISNVNE	TSVFLEWIPP	ADTGGRKDVS	YYIACKKCNS	HAGVCEECGG	HVRYLPRQSG
430	440	450	460	470	480
LKNTSVMMVD	LLAHTNYTFE	IEAVNGVSDL	SPGARQYVSV	NVTTNQAAPS	PVTNVKKGKI
490	500	510	520	530	540
AKNSISLSWQ	EPDRPNGIIL	EYEIKYFEKD	QETSYTIIKS	KETTITAEGL	KPASVYVFQI
550	560	570	580	590	600
RARTAAGYGV	FSRRFEFETT	PVFAASSDQS	QIPVIAVSVT	VGVILLAVVI	GVLLSGSCCE
610	620	630	640	650	660
CGCGRASSLC	AVAHPSLIWR	CGYSKAKQDP	EEEKMHFHNG	HIKLPGVRTY	IDPHTYEDPN
670	680	690	700	710	720
QAVHEFAKEI	EASCITIERV	IGAGEFGEVC	SGRLKLPGKR	ELPVAIKTLK	VGYTEKQRRD
730	740	750	760	770	780
FLGEASIMGQ	FDHPNIIHLE	GVVTKSKPVM	IVTEYMENGS	LDTFLKKNDG	QFTVIQLVGM
790	800	810	820	830	840
LRGISAGMKY	LSDMGYVHRD	LAARNILINS	NLVCKVSDFG	LSRVLEDDPE	AAYTTRGGKI
850	860	870	880	890	900
PIRWTAPEAI	AFRKFTSASD	VWSYGIVMWE	VVSYGERPYW	EMTNQDVIKA	VEEGYRLPSP
910	920	930	940	950	960
MDCPAALYQL	MLDCWQKERN	SRPKFDEIVN	MLDKLIRNPS	SLKTLVNASC	RVSNLLAEHS
970	980	990	1000	1010	1020
PLGSGAYRSV	GEWLEAIKMG	RYTEIFMENG	YSSMDAVAQV	TLEDLRRLGV	TLVGHQKKIM
1030
NSLQEMKVQL	VNGMVPL