Proto-oncogene mutations in middle ear cholesteatoma contribute to its pathogenesis

BMC Medical Genomics

Table 2 Somatic genetic variants detected using target capture sequencing

Samples	Gene	Locus (hg19)	Reference allele count	Alternative allele count	Variant allele frequency	function	Variant	Accession number
chole10	LY75-LY75-CD302	chr2:160676343–160,676,343;C > T	533	511	0.489	exonic	c.G4047A:p.L1349L	ENST00000505052.1
chole09	LY75-LY75-CD302	chr2:160743040–160,743,040;T > A	254	258	0.504	exonic	c.A804T:p.E268D	ENST00000554112.1
chole09	LY75-LY75-CD302	chr2:160755347–160,755,347;C > T	359	335	0.483	exonic	c.G318A:p.L106L	ENST00000554112.1
chole10	EFCAB6	chr22:44131786–44,131,786;T > C	485	481	0.498	exonic	c.A139G:p.R47G	ENST00000396231.2
chole09	HRASLS	chr3:192959302–192,959,302;A > C	286	284	0.498	exonic	c.A295C:p.R99R	ENST00000264735.2
chole09	UBR5	chr8:103308010–103,308,010;T > C	236	281	0.544	exonic	c.A3666G:p.K1222K	ENST00000520539.1
chole08	MYC	chr8:128750686–128,750,686;C > A	950	28	0.029	exonic	c.C223A:p.P75T	ENST00000377970.2
chole18	NOTCH1	chr9:139399835–139,399,835;A > G	377	9	0.023	exonic	c.T4513C:p.C1505R	ENST00000277541.6
chole12	NOTCH1	chr9:139404184–139,404,184;C > A	891	40	0.043	splicing	c2969 + 1 G > T	ENST00000277541
chole15	NOTCH1	chr9:139412624–139,412,624;G > A	905	41	0.043	exonic	c.C1220T:p.P407L	ENST00000277541.6
chole15	NOTCH1	chr9:139417611–139,417,611;C > T	739	54	0.068	exonic	c.G433A:p.A145T	ENST00000277541.6

ISSN: 1755-8794