Suzanne de Bruijn

206 Chapter 4 Table S8. Assessment of microhomology, insertions and deletions at allele-specific breakpoints SV Breakpoint junction 3’ Coordinates 5’ Coordinates (Micro)homology Insertion Deletion NL-SV1 B-B 57,518,137 57,291,905 5 bp (AGGCA) - - UK-SV2 E-[G] 57,456,098 57,559,114 NP 9 bp (TTTTATGAC) - [E]-G 57,275,839 57,468,960 NP 9 bp (AGGCTGGTC) - SA-SV3 L-J 57,516,678 57,247,615 NP 23 bp (AAAAAAAACTTGAAAAAGAAGTT) - J-[M] 57,391,678 57,612,711 4 bp (TCAG) - - [M]-L 57,516,678 57,499,214 1 bp (C) 13 bp (GGTCCAGATTGTG) 4 bp (AGAG) CA-SV4 P-[R] 57,280,008 57,634,900 1 bp (T) - - [P]-R 57,233,035 57,483,883 2 bp (GC) 5 bp (TAAGC) - NL-SV5 U-U 57,515,862 57,260,511 5 bp (ATCCT) - - UK-SV6 X-X 57,510,765 57,295,969 >100 bp - - UK-SV7 AA-[AC] 57,453,630 57,710,821 >100 bp - - [AA]-AC 57,259,525 57,468,931 NP 10 bp (GTAATTTTTC) - UK-SV8 AF-[AH] 57,326,234 57,631,659 NP 2 bp (CT) - [AF]-AH 57,277,347 57,413,153 2 bp (CT) - - SV, Structural variant; Breakpoint junction, Allele-specific breakpoint junction between genomic regions as illustrated in Figure 2 ; Coordinates, genomic position of breakpoints according to hg19; Microhomology, presence of microhomology was assessed using ClustalOmega; Insertion and deletion, presence of insertions or deletions as determined by Sanger sequencing. [ ] Indicate inverted segments, bp, base pairs; NP, not present.