Table 1.
Sample | Consequence | Type of SV1 | Transcript1::Transcript22 | Start-Stop (GRCh38 coordinates) | Pathological diagnosis |
---|---|---|---|---|---|
P2233_115T | ETV6::NTRK3 | BND | ENST00000396373.8|5/7::ENST00000626019.2|12/18 | chr12:11880139-chr15:88000019 | ATRT |
P7708_114T | C11orf95::RELA | DUP | ENST00000433688.2|3/5::ENST00000406246.7|2/11 | chr11:63764600-chr11:65662555 | Ependymoma |
P7708_115T | C11orf95::RELA | double BND | ENST00000433688.2|3/5::ENST00000406246.7|2/11 | chr11:63764612-chr11:65662560 | Ependymoma |
P7708_201T | C11orf95::RELA | DUP | ENST00000433688.2|2/5::ENST00000406246.7|2/11 | chr11:63765733-chr11:65663414 | Ependymoma |
P7708_109T | GADL1::RBMS3 | INV | ENST00000282538.9|12/15::ENST00000636680.1|6/17 | chr3:29516136-chr3:30793136 | Ependymoma |
SYNPO2::HELQ | INV | ENST00000307142.8|1/5::ENST00000295488.7|9/18 | chr4:83435026-chr4:118898900 | ||
P7708_116T | ARHGEF2::NTRK1 | INV + DEL | ENST00000673475.1|25/26::ENST00000524377.6|12/17 | chr1:155949192-chr1:156875269 | Ganglioglioma |
P2233_118T | RERE::SLC2A5 | DUP | ENST00000337907.7|2/24::ENST00000377424.9|12/12 | chr1:8739338-chr1:9087076 | |
P2233_119T | KIAA1549::BRAF | DUP | ENST00000422774.2|16/20::ENST00000288602.11|9/19 | chr7:138852276-chr7:140790556 | Pilocytic astrocytoma |
P4551_213T | KIAA1549::BRAF | double INV DUP | ENST00000422774.2|16/20::ENST00000644969.2|9/20 | chr7:138852518-chr7:140791970 | Pilocytic astrocytoma |
P2233_108T | KIAA1549::BRAF | DUP | ENST00000422774.2|16/20::ENST00000644969.2|9/20 | chr7:138852755-chr7:140789812 | Pilocytic astrocytoma |
P2233_110T | KIAA1549::BRAF | DUP | ENST00000422774.2|16/20::ENST00000644969.2|9/20 | chr7:138853500-chr7:140792494 | Pilocytic astrocytoma |
P4552_104T | KIAA1549::BRAF | DUP | ENST00000422774.2|16/20::ENST00000644969.2|9/20 | chr7:138854568-chr7:140790408 | Pilocytic astrocytoma |
P2233_103T | KIAA1549::BRAF | DUP | ENST00000422774.2|16/20::ENST00000644969.2|9/20 | chr7:138856929-chr7:140789598 | Pilocytic astrocytoma |
P7708_104T | KIAA1549::BRAF | DUP | ENST00000422774.2|16/20::ENST00000644969.2|9/20 | chr7:138858793-chr7:140791924 | Pilocytic astrocytoma |
P4552_106T | KIAA1549::BRAF | DUP | ENST00000422774.2|16/20::ENST00000644969.2|9/20 | chr7:138859026-chr7:140791514 | Pilocytic astrocytoma |
P4552_105T | KIAA1549::BRAF | DUP | ENST00000422774.2|16/20::ENST00000644969.2|9/20 | chr7:138860733-chr7:140788171 | Pilocytic astrocytoma |
P4551_217T | KIAA1549::BRAF | DUP | ENST00000422774.2|15/20::ENST00000644969.2|9/20 | chr7:138862714-chr7:140787922 | Pilocytic astrocytoma |
P4552_108R | KIAA1549::BRAF | DUP | ENST00000422774.2|15/20::ENST00000644969.2|9/20 | chr7:138863829-chr7:140793843 | Pilocytic astrocytoma |
P4551_215T | KIAA1549::BRAF | DUP | ENST00000422774.2|15/20::ENST00000644969.2|9/20 | chr7:138867796-chr7:140792603 | Pilocytic astrocytoma |
P4551_216T | KIAA1549::BRAF | DUP | ENST00000422774.2|12/20::ENST00000644969.2|9/20 | chr7:138878216-chr7:140787971 | Pilocytic astrocytoma |
P4551_219T | EWSR1::PATZ1 | INV | ENST00000414183.6|9/18::ENST00000266269.10|1/5 | chr22:29289872-chr22:31344672 | Pilocytic astrocytoma |
P4552_110T | QKI::RAF1 | BND | ENST00000361752.8|3/18::ENST00000442415.7|8/18 | chr6:163496728-chr3:12604073 | Pilocytic astrocytoma |
P7708_105T | FGFR1::TACC1 | INV | ENST00000425967.7|18/19::ENST00000317827.9|7/13 | chr8:38413736-chr8:38835597 | Oligodendroglioma |
P4551_218T | FGFR1::TACC1 | INV | ENST00000425967.7|18/19::ENST00000317827.9|7/13 | chr8:38413197-chr8:38833204 | Pilocytic astrocytoma anaplastic |
P2233_101T | PLEKHA5::PIK3C2G | DUP | ENST00000429027.6|3/32::ENST00000676171.1|19/33 | chr12:18476311-chr12:19180500 | PNET |
P2233_106T | ABL1::FLJ37453 | BND | ENST00000372348.7|1/11::ENST00000317122.2|2/2 | chr9:130847932-chr1:15838837 | Rhabdoid meningioma |
GABRA5::NTRK3 | INV | ENST00000400081.7|3/11::ENST00000626019.2|9/19 | chr15:26871512-chr15:88134456 | ||
MOCOS::ELP2 | DUP | ENST00000261326.6|6/15::ENST00000442325.6|21/23 | chr18:36168162-chr18:36205353 |
1Type of Structural Variant: BND breakend notation, translocation, DUP duplication, INV inversion
25' and 3' genes and transcripts involved in the fusion transcript followed by the exon involved in the breakpoint and total number of exons in the transcript