supplementary appendix final.xlsx

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CTSK chr1:150774000. Not Applicable chr1:157074000. Inversion. 6,300,000 chr1:150774000/-/chr1:157074000/+ and chr1:157074000/-/chr1:150774000/+.
Table S3. Structural variants identified by whole genome sequencing.

First Gene Symbol

First Breakpoint (hg19)

Second Gene Second Breakpoint Intrachromosomal Observed Symbol (hg19) Type Size

CTSK

chr1:150774000

Not Applicable

chr1:157074000

Inversion

6,300,000

chr1:150774000/-/chr1:157074000/+ and chr1:157074000/-/chr1:150774000/+

RABGAP1L

chr1:174403000

Not Applicable

chr1:194383000

Deletion

19,980,000

chr1:174403000/+/chr1:194383000/+ and chr1:194383000/-/chr1:174403000/-

Not Applicable

chr1:200188000

Not Applicable

chr1:211310000

Inversion

11,122,000

chr1:200188000/-/chr1:211310000/+ and chr1:211310000/-/chr1:200188000/+

Not Applicable

chr1:211321000

RP11-323I1.1

chr1:213967000

Inversion

2,646,000

chr1:211321000/-/chr1:213967000/+ and chr1:213967000/-/chr1:211321000/+

CTNNA2

chr2:80217000

CTNNA2

chr2:80753000

Inversion

536,000

chr2:80217000/-/chr2:80753000/+ and chr2:80753000/-/chr2:80217000/+

CTNNA2

chr2:80217000

Not Applicable

chr2:81778000

Duplication

1,561,000

chr2:80217000/-/chr2:81778000/- and chr2:81778000/+/chr2:80217000/+

Not Applicable

chr4:29106000

RP11-8L2.1

chr4:84908000

Inversion

55,802,000

chr4:29106000/-/chr4:84908000/+ and chr4:84908000/-/chr4:29106000/+

Not Applicable

chr7:53198000

Not Applicable

chr7:53207000

Deletion

9,000

chr7:53198000/+/chr7:53207000/+ and chr7:53207000/-/chr7:53198000/-

DUX4L3

chr10:135487176

DUX4L3

chr10:135491849

Deletion

4,673

chr10:135487176/+/chr10:135491849/+ and chr10:135491849/-/chr10:135487176/-

VMP1

chr17:57899000

APPBP2

chr17:58580000

Duplication

681,000

chr17:57899000/-/chr17:58580000/- and chr17:58580000/+/chr17:57899000/+

Rearrangement Orientation