Suzanne de Bruijn

204 Chapter 4 Table S6. Genomic details of RP17-SVs SV Type Chr Start End Event Size (Mb) Genomic regions Genes involved Detection method NL-SV1 Dup 17 57,291,905 57,518,137 Dup 0.23 B SMG8, GDPD1, YPEL2, MIR4729, LINC01476 FREEC, Manta UK-SV2 DupINVdup 17 57,275,839 57,456,098 Dup 0.18 E PRR11, SMG8, GDPD1, YPEL2, MIR4729 Canvas 57,275,839 57,559,114 Inv 0.28 E, F, G PRR11, SMG8, GDPD1, YPEL2, MIR4729, LINC01476 Manta 57,468,960 57,559,114 Dup 0.09 G YPEL2, LINC01476 Canvas SA-SV3 DupINVdup 17 57,247,615 57,391,678 Dup 0.14 J PRR11, SMG8, GDPD1 FREEC 57,516,678 57,612,711 Inv 0.10 M LINC01476 Manta 57,499,214 57,612,711 Dup 0.11 L, M LINC01476 FREEC CA-SV4 DupINVdup 17 57,233,035 57,280,008 Dup 0.05 P PRR11 FREEC 57,233,035 57,634,900 Inv 0.40 P, Q, R PRR11, SMG8, GDPD1, YPEL2, MIR4729, LINC01476 Manta 57,483,883 57,634,900 Dup 0.15 R LINC01476 FREEC NL-SV5 Dup 17 57,260,511 57,515,862 Dup 0.13 U PRR11, SMG8, GDPD1, YPEL2, MIR4729, LINC01476 FREEC, Manta UK-SV6 Trip 17 57,295,969 57,510,765 Trip 0.21 X GDPD1, YPEL2, MIR4729, LINC01476 Canvas, Manta UK-SV7 DupINVdup 17 57,259,525 57,259,525 57,468,931 57,453,630 57,710,821 57,710,821 Dup Inv Dup 0.16 0.42 0.24 AA AA, AB, AC AC PRR11, GDPD1, YPEL2, MIR4729 PRR11, GDPD1, YPEL2, MIR4729, LINC01476, DHX40, CLTC YPEL2, LINC01476, DHX40, CLTC Canvas Manta Canvas UK-SV8 DupINVdup 17 57,277,347 57,326,234 Dup 0.05 AF PRR11, SMG8, GDPD1 Canvas 57,277,347 57,631,659 Inv 0.35 AF, AG, AH PRR11, GDPD1, YPEL2, MIR4729, LINC01476 Manta 57,413,153 57,631,659 Dup 0.22 AH YPEL2, MIR4729, LINC01476 Canvas SV, Structural variant; Type, complex structural rearrangements specified as duplications (dup), inversions (inv), triplications (trip) rearrangements; Start, End, genomic positions of structural rearrangements according to GRCh37/hg19; Size, of structural rearrangement in Mb; Genomic regions annotated as illustrated in Figure 2 ; Detection method, specific tools employed for identification of structural rearrangements are described in materials and methods section.