Table 1.
Patient | Locus | Variant | Region | Genes affected | Present before first tumor timepoint |
---|---|---|---|---|---|
Patient 1 | 1:186,755,400 | Alu (non-classical insertion) | Intergenic | Yes | |
1:29,089,030 | Alu-Alu associated deletion (23 kb) | Exon | YTHDF2 | Yes | |
2:62,111,770 | SVA insertion | Intronic | CCT4 | No | |
17:11,974,341/22:48,343,831 | Alu-associated translocation | Exon | MAP2K4 | Yes | |
Patient 2 | 2:15,168,000 | Alu (non-classical insertion) | Intergenic | Yes | |
8:99,227,400 | L1 insertion | Exon | NIPAL2 | Yes | |
13:19,866,150 | L1 insertion | Intronic | ANKRPD26P3 | Yes | |
Patient 3 | 6:105,643,750 | Alu-Alu associated deletion | Intergenic | Yes | |
Patient 4 | 10:67,431,020 | Alu insertion | Intergenic | Yes | |
11:81,149,160 | L1-associated deletion | Intergenic | Yes | ||
19:23,124,500 | SVA insertion | Intergenic | No |
Insertion or variant sites found within genes (exonic or intronic) are indicated in the “Genes affected” column. Insertion events described as “non-classical insertions” do not show any hallmarks of L1-mediated insertion events.