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Table 1 Novel sub-clonal somatic structural variants detected by BreakDown

From: Towards accurate characterization of clonal heterogeneity based on structural variation

SAMPLE CHR1 POS1 CHR2 POS2 TYPE Size(bp) GENE EST_VAF
PD4120 10 117351105 10 117352856 Deletion 1751 ATRNL1 0.12
PD4120 5 86223184 5 86225988 Deletion 2804   0.38
PD4120 14 51889637 14 51896099 Deletion 6462   0.39
PD4120 22 19372768 22 21122617 Translocation N/A HIRA, PI4KA 0.055
PD4115 1 10151402 1 10152851 Deletion 1449 UBE4B 0.296
PD4115 9 108351356 9 108352767 Deletion 1411 FKTN 0.285
PD4115 9 140773612 9 140777195 Deletion 3583 CACNA1B 0.400
PD4115 X 73061886 X 73067477 Deletion 5591 XIST 0.394
PD4088 10 60908547 10 60920370 Inversion 11823   0.594
  1. Listed are the novel somatic structural variants in the breast cancer sample PD4120, PD4115 and PD4088 along with BreakDown estimated VAFs (column 9). Also shown (column 8) are the genes overlapping with either deletion loci or translocation breakpoints.