Table 1.

Mutations detected in the sequence of EPAS1 in esophageal squamous cell carcinoma.

Sample ID	Copy No. Change	mRNA expression	DNA change	Amino acid changes	Effect on protein features	In silico prediction
						Mutation taster	PROVEAN	SIFT
P1	Amplification	High	c.1084C>T cDNA.1594C>T g.82922C>T	No	Protein features (might be) affected	Diseases causing	Neutral	Tolerated
P13	Amplification	High	c.1099C>A cDNA.1609C>A g.82937C>A c.1145_1145delT cDNA.1655_1655delT g.82983_82983delT	L367M V382Gfs*12	Amino acid sequence changed NMD Amino acid sequence changed Frameshift protein features (might be) affected	Diseases causing	Neutral Deleterious	Tolerated Deleterious
P22	Deletion	No change	c.1093C>G cDNA.1603C>G g.82931C>G c.1099C>A cDNA.1609C>A g.82937C>A c.1145_1145delT cDNA.1655_1655delT g.82983_82983delT	P365A L367M V382Gfs*12	Amino acid sequence changed Amino acid sequence changed NMD Amino acid sequence changed Frameshift protein features (might be) affected	Diseases causing	Deleterious	Damaging
P29	Amplification	High	c.1099C>A cDNA.1609C>A g.82937C>A c.1121T>G cDNA.1631T>G g.82959T>G c.1137_1137delG cDNA.1647_1647delG g.82975_82975delG	L367M F374C A381Lfs*13	Amino acid sequence changed Amino acid sequence changed NMD amino acid sequence changed frameshift protein features (might be) affected splice site changes	Diseases causing	Deleterious	Damaging
P78	Amplification	High	c.1135_1136insT cDNA.1645_1646insT g.82973_82974insT c.1099C>A cDNA.1609C>A g.82937C>A	K379Ifs*6 L367M	NMD Amino acid sequence changed Frameshift Protein features (might be) affected Splice site changes Amino acid sequence changed	Diseases causing	Deleterious	Damaging
P103	Deletion	Low	c.1091_1092insT cDNA.1601_1602insT g.82929_82930insT	K364Nfs*12	NMD Amino acid sequence changed Frameshift Protein features (might be) affected Splice site changes	Diseases causing	Deleterious	Damaging

NMD, nonsense-mediated mRNA decay.