Table 2.

Somatic mutation characteristics from the six sebaceous lesions tested by Whole Exome Sequencing

ID	Sebaceous lesion	Site	MMR germline	MMR IHC status	Somatic mutation characteristics
					Somatic MMR mutation	Tumor mutational load	Tumor mutational burden (mutations/Mb)	Exonic microsatellites affected by indels	MSIsensor score  (%)
31001	Adenoma	R cheek	None	Normal expression	None	184	2.7	13	0.34
44001	Adenoma	L temple	None	Normal expression	None	80	1.2	11	0.02
67001	Adenoma	L neck	None	Normal expression	None	100	1.5	15	0.24
10101	Adenoma	R nasal tip	MSH2 c.892C > T p.Gln298Ter	MSH2/MSH6 loss	MSH2 c.1216C > T p.Arg406Ter	943	14.0	139	2.54
00011	Carcinoma	Thigh	MSH2 c.2131C > T p.Arg711Ter	MSH2/MSH6 loss	MSH2 c.1861C > T p.Arg621Ter	1,341	19.9	555	21.11
04001	Carcinoma	Back	MSH2 c.2131C > T p.Arg711Ter	MSH2/MSH6 loss	MSH2 LOH c.942 onwards	2,421	36.0	674	23.53

Tumor mutational load is the total number of SSNVs found by both Mutect2 and Strelka meeting minimum allele frequency and depth requirements and falling in the capture region. Tumor mutational burden is the number of SSNVs per megabase of capture region. Exonic microsatellites is the number of indels found in these regions by Strelka2. MSIsensor score is the percentage of microsatellites affected by indels according to MSISensor

Abbreviations: LOH, loss of heterozygosity; IHC, immunohistochemistry; MMR, mismatch repair.