Table 1 Illumina WGS read pairs supporting the aCGH-identified VHL exon 3 duplication

From: Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications

Read pair index

Read pair ID

Read 1

Read 2

Apparent insert size (bp)

  

Chr:Start

Str

MAQ

CIGAR

Sequence

Chr:Start

Str

MAQ

CIGAR

Sequence

 

1

1:22205:23223:19447

3:10190389

60

29S98M1I23M

CTCTGTCTCAAAAAAAAAAAAAAAGGTGGTTATTATTTTTGGGGTGGTAGTCACAAAACAAATAACCAAAACAATGTGTTATAAGAAAATATAGGCCGGGCGCGGTGGCTAACGCCTGTAATACAAGACGGTTGGGAGGCTGAGGTGGGGG

3:10194317

+

60

130M21S

CAGGCGCCTGCCACCATGCCTGGCTAAGTTTGTGTTTTTAGTGGAGACGGGGTTTCGCCATGTTGTCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCCCCGTCAGCCTCCCAAAGTGCTGGGATGACTGGCGTGCGCCGCCGCGC

3929

2

3:11602:2529:14064

3:10190373

60

149M

AAAAAAAGGTGGTTATTAGTTTTGGGGTGGTAGTCACAAAACACATAACCAAAACAATGTGTACTTAGAAAATCTACGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGAGGGAGGATCACAAGGTCAGG

3:10194261

+

50

151M

CTGCCTCACGAGTTCAAGTGATTCTCCTGGCTCACCCTCCTGAGTAGCTGGGATTACAGGCGCCAGCCACCCTGCCGGGCGAATTTTGTGTTGTTAGAGGAGACGGGGTTTAACAATGTTGTCCATGATGGGCGTGATCTCATGACCTTCT

3889

3

4:12508:5549:13646

3:10194187

+

60

22S129M

TTTTTTTTGAGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTACAAGCTCTGCCGCCCGAGTTCAAGTGATTCTCCTGGCTCACCCTCCTGCGTAGCGGGGCTTCCAGGCGCCGGCCCCCCGGCCC

3:10190353

60

138M13S

TTTGGGGTGGTAGTCACAAAACACATAACCAAAACAATGTGTACTTAGAAAATCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACGTTGGGAGGCTGAGGAGGGTGGATCACAAGGTCAGGGGAGCCAGAACATCATGGCCCC

3835

4

3:21604:6698:11228

3:10194270

+

37

57S22M2I70M

GAGTTCAAGTGATTCTCCTGGCTCACCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCCTGCCTGGCTAAGTTTGTGTTTGTAGTGGTGCCGGTGGTTCAGAATGTTGTCCAGGCAGGTCGAGAACTCCTGAGCGAGTGTTCGAGCC

3:10190436

49

91M60S

GCCAAGATCACACGCCACTGCACTCCAGCCTGGGTGACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGGTGGTTATTATTTTTGGGGTGTTATTAACAAAACAAAAAACAAAAAAAATTTATAATTTAAAAATAAAGGACAACCGC

3835

5

3:12610:3291:6108

3:10190361

60

41S110M

TTATTAGTTTTGGGGTGGTAGTCACAAAACACATAACCAAAACAATGTGTACTTAGAAAATCTAGGCCGGGCGCGGTGGCTCCCGCCTGTAATCCCAGCGCTTTGGGAGGGTGAGGTGGGTGGGTCACATGGGCGCGTGAGGACGCCCATC

3:10194192

+

60

140M10S

TTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTACAAGCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGGCTCACCCTCCGGAGTAGCTGGGATTACAGGCGCCAGCCACCCTGCCGGGCG

3832

6

4:21404:7724:1758

3:10190349

60

67S83M

GGGTGGTAGTCACAAAACACATAACCAAAACAATGTGTACTTAGAAAATCTATGCCGGGCTCGGTGGCTCACGCATGTAATCCAACCACATAAGTATGATCAGAAAGAAGAATCACAACAACAACAGATAAAGACCATAAAAAAAAAAAA

3:10194147

+

60

37M112S

CAACATTCAACAAATAGTCTTTTTTTTTTTTTTTTTTATTTTAAAAGAAATAAAACAATGTTAACAAGACAAGAATGCAGTGGTGGGAAAAAAAAACAAAAAAACAAATCCAACCCAATGAAAAGTAATGAACATAGCGAAACCAACGG

3799

  1. Genomic coordinates are reported according to human genome build hg19
  2. Chr Chromosome, MAQ Mapping quality score, M Matched nucleotides, S soft-clipped nucleotides