Families Affected by Rare Developmental Disorders Germline Targeted NanoSeq
Targeted NanoSeq, a duplex sequencing protocol, was performed on semen-derived DNA from fathers of children with developmental disorders caused by pathogenic de novo mutations. Sequencing targeted a custom 220-gene panel designed to include developmental disorder genes, genes linked to positive selection in the male germline, and genes carrying diagnostic de novo mutations in the cohort. The data were used to quantify rare sperm mutations, paternal sperm mosaicism, age-associated mutation burden and germline positive selection.
- 07/07/2026
- 1 sample
- DAC: EGAC00001000000
- Technology: Illumina NovaSeq 6000
- Archive: European Genome-phenome Archive (EGA)
DUO:0000019 version: 2021-02-23
publication required
This data use modifier indicates that requestor agrees to make results of studies using the data available to the larger scientific community.
DUO:0000026 version: 2021-02-23
user specific restriction
This data use modifier indicates that use is limited to use by approved users.
DUO:0000028 version: 2021-02-23
institution specific restriction
This data use modifier indicates that use is limited to use within an approved institution.
DUO:0000042 version: 2021-02-23
general research use
This data use permission indicates that use is allowed for general research use for any research purpose.
Wellcome Trust Sanger Institute Cancer Genome Group Data Sharing Policy
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| EGAS00001007720 | Other |
This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.
| ID | File Type | Size | Quality Report |
Located in
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|---|---|---|---|---|
| EGAF00009071601 | cram | 7.4 GB |
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| EGAF00009071602 | cram | 9.1 GB |
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| EGAF00009071603 | cram | 8.2 GB |
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| EGAF00009071604 | cram | 7.0 GB |
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| EGAF00009071605 | cram | 9.0 GB |
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| EGAF00009071606 | cram | 8.4 GB |
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| EGAF00009071607 | cram | 8.0 GB |
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| EGAF00009071608 | cram | 8.2 GB |
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| EGAF00009071609 | cram | 8.0 GB |
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| EGAF00009071610 | cram | 1.7 GB |
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| EGAF00009071611 | cram | 2.2 GB |
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| EGAF00009071612 | cram | 2.1 GB |
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| EGAF00009071613 | cram | 1.8 GB |
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| EGAF00009071614 | cram | 2.3 GB |
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| EGAF00009071615 | cram | 2.1 GB |
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| EGAF00009071616 | cram | 1.9 GB |
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| EGAF00009071617 | cram | 2.1 GB |
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| EGAF00009071618 | cram | 2.1 GB |
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| EGAF00009071619 | cram | 1.8 GB |
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| EGAF00009071620 | cram | 2.2 GB |
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| EGAF00009071621 | cram | 2.1 GB |
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| EGAF00009071622 | cram | 1.8 GB |
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| EGAF00009071623 | cram | 2.4 GB |
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| EGAF00009071624 | cram | 2.2 GB |
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| EGAF00009071625 | cram | 1.9 GB |
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| EGAF00009071626 | cram | 2.1 GB |
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| EGAF00009071627 | cram | 2.1 GB |
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| EGAF00009071628 | cram | 1.4 GB |
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| EGAF00009071629 | cram | 3.0 GB |
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| EGAF00009071630 | cram | 2.1 GB |
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| EGAF00009071631 | cram | 3.4 GB |
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| EGAF00009071632 | cram | 1.9 GB |
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| EGAF00009071633 | cram | 5.4 GB |
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| EGAF00009071634 | cram | 7.3 GB |
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| EGAF00009071635 | cram | 7.2 GB |
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| EGAF00009071636 | cram | 8.3 GB |
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| EGAF00009071637 | cram | 7.8 GB |
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| EGAF00009071638 | cram | 4.8 GB |
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| EGAF00009071639 | cram | 5.9 GB |
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| EGAF00009071640 | cram | 2.9 GB |
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| EGAF00009071641 | cram | 4.6 GB |
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| EGAF00009071642 | cram | 1.4 GB |
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| EGAF00009071643 | cram | 4.5 GB |
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| EGAF00009071644 | cram | 8.8 GB |
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| EGAF00009071645 | cram | 5.4 GB |
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| EGAF00009071646 | cram | 6.7 GB |
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| EGAF00009071647 | cram | 5.8 GB |
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| EGAF00009071648 | cram | 8.0 GB |
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| EGAF00009071649 | cram | 7.7 GB |
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| EGAF00009071650 | cram | 13.3 GB |
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| EGAF00009071651 | cram | 7.6 GB |
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| EGAF00009071652 | cram | 17.2 GB |
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| EGAF00009071653 | cram | 8.8 GB |
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| EGAF00009071654 | cram | 10.2 GB |
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| EGAF00009071655 | cram | 6.4 GB |
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| EGAF00009071656 | cram | 6.5 GB |
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| EGAF00009071657 | cram | 8.2 GB |
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| EGAF00009071658 | cram | 11.1 GB |
|
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| EGAF00009071659 | cram | 8.6 GB |
|
|
| EGAF00009071660 | cram | 9.3 GB |
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|
| EGAF00009071661 | cram | 32.5 GB |
|
|
| EGAF00009071662 | cram | 8.3 GB |
|
|
| EGAF00009071663 | cram | 7.7 GB |
|
|
| EGAF00009071664 | cram | 7.1 GB |
|
|
| EGAF00009071665 | cram | 9.3 GB |
|
|
| EGAF00009071666 | cram | 9.1 GB |
|
|
| EGAF00009071667 | cram | 10.5 GB |
|
|
| EGAF00009071668 | cram | 8.1 GB |
|
|
| EGAF00009071669 | cram | 8.7 GB |
|
|
| EGAF00009071670 | cram | 8.5 GB |
|
|
| EGAF00009071671 | cram | 8.1 GB |
|
|
| EGAF00009071672 | cram | 7.6 GB |
|
|
| EGAF00009071673 | cram | 7.8 GB |
|
|
| EGAF00009071674 | cram | 11.5 GB |
|
|
| EGAF00009071675 | cram | 8.5 GB |
|
|
| EGAF00009071676 | cram | 7.3 GB |
|
|
| EGAF00009071677 | cram | 1.8 GB |
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| EGAF00009071678 | cram | 6.8 GB |
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|
| EGAF00009071679 | cram | 9.7 GB |
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| EGAF00009071680 | cram | 7.2 GB |
|
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| EGAF00009071681 | cram | 9.9 GB |
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| EGAF00009071682 | cram | 9.6 GB |
|
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| EGAF00009071683 | cram | 8.1 GB |
|
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| EGAF00009071684 | cram | 8.3 GB |
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| EGAF00009071685 | cram | 9.5 GB |
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| EGAF00009071686 | cram | 14.7 GB |
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| EGAF00009071687 | cram | 12.1 GB |
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| EGAF00009071688 | cram | 8.5 GB |
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| EGAF00009071689 | cram | 9.5 GB |
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| EGAF00009071690 | cram | 8.9 GB |
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| EGAF00009071691 | cram | 9.4 GB |
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| EGAF00009071692 | cram | 11.6 GB |
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| EGAF00009071693 | cram | 9.1 GB |
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| EGAF00009071694 | cram | 14.5 GB |
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| EGAF00009071695 | cram | 9.2 GB |
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| EGAF00009071696 | cram | 9.6 GB |
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| EGAF00009071697 | cram | 8.7 GB |
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| EGAF00009071698 | cram | 5.0 GB |
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| EGAF00009071699 | cram | 13.9 GB |
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| EGAF00009071700 | cram | 8.1 GB |
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| EGAF00009071701 | cram | 9.2 GB |
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| EGAF00009071702 | cram | 22.1 GB |
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| EGAF00009071703 | cram | 15.8 GB |
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| EGAF00009071704 | cram | 348.0 MB |
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| EGAF00009071705 | cram | 758.9 MB |
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| EGAF00009071706 | cram | 533.2 MB |
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| EGAF00009071707 | cram | 785.1 MB |
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| EGAF00009071708 | cram | 424.7 MB |
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| EGAF00009071709 | cram | 1.3 GB |
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| EGAF00009071710 | cram | 1.7 GB |
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| EGAF00009071711 | cram | 1.8 GB |
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| EGAF00009071712 | cram | 2.2 GB |
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| EGAF00009071713 | cram | 1.9 GB |
|
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| EGAF00009071714 | cram | 1.1 GB |
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| EGAF00009071715 | cram | 1.4 GB |
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| EGAF00009071716 | cram | 715.9 MB |
|
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| EGAF00009071717 | cram | 1.1 GB |
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| EGAF00009071718 | cram | 302.0 MB |
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| EGAF00009071719 | cram | 1.1 GB |
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| EGAF00009071720 | cram | 2.0 GB |
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| EGAF00009071721 | cram | 1.3 GB |
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| EGAF00009071722 | cram | 1.7 GB |
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| EGAF00009071723 | cram | 1.4 GB |
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| EGAF00009071724 | cram | 1.8 GB |
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| EGAF00009071725 | cram | 1.8 GB |
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| EGAF00009071726 | cram | 3.1 GB |
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| EGAF00009071727 | cram | 2.0 GB |
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| EGAF00009071728 | cram | 4.1 GB |
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| EGAF00009071729 | cram | 2.1 GB |
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| EGAF00009071730 | cram | 2.4 GB |
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| EGAF00009071731 | cram | 1.6 GB |
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| EGAF00009071732 | cram | 1.5 GB |
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| EGAF00009071733 | cram | 1.9 GB |
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| EGAF00009071734 | cram | 2.6 GB |
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| EGAF00009071735 | cram | 2.2 GB |
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| EGAF00009071736 | cram | 2.1 GB |
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| EGAF00009071737 | cram | 8.0 GB |
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| EGAF00009071738 | cram | 2.0 GB |
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| EGAF00009071739 | cram | 1.7 GB |
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| EGAF00009071740 | cram | 1.7 GB |
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| EGAF00009071741 | cram | 2.2 GB |
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| EGAF00009071742 | cram | 2.2 GB |
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| EGAF00009071743 | cram | 2.4 GB |
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| EGAF00009071744 | cram | 2.2 GB |
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| EGAF00009071745 | cram | 2.1 GB |
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| EGAF00009071746 | cram | 2.0 GB |
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| EGAF00009071747 | cram | 1.9 GB |
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| EGAF00009071748 | cram | 1.8 GB |
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| EGAF00009071749 | cram | 1.8 GB |
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| EGAF00009071750 | cram | 2.7 GB |
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| EGAF00009071751 | cram | 2.1 GB |
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| EGAF00009071752 | cram | 1.8 GB |
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| EGAF00009071753 | cram | 433.0 MB |
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| EGAF00009071754 | cram | 1.6 GB |
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| EGAF00009071755 | cram | 2.2 GB |
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| EGAF00009071756 | cram | 1.7 GB |
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| EGAF00009071757 | cram | 2.4 GB |
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| EGAF00009071758 | cram | 2.2 GB |
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| EGAF00009071759 | cram | 1.9 GB |
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| EGAF00009071760 | cram | 2.0 GB |
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| EGAF00009071761 | cram | 2.3 GB |
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| EGAF00009071762 | cram | 3.8 GB |
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| EGAF00009071763 | cram | 2.7 GB |
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| EGAF00009071764 | cram | 1.8 GB |
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| EGAF00009071765 | cram | 2.2 GB |
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| EGAF00009071766 | cram | 2.1 GB |
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| EGAF00009071767 | cram | 2.1 GB |
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| EGAF00009071768 | cram | 2.9 GB |
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| EGAF00009071769 | cram | 2.1 GB |
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| EGAF00009071770 | cram | 3.5 GB |
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| EGAF00009071771 | cram | 2.1 GB |
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| EGAF00009071772 | cram | 2.3 GB |
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| EGAF00009071773 | cram | 2.0 GB |
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| EGAF00009071774 | cram | 1.3 GB |
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| EGAF00009071775 | cram | 3.2 GB |
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| EGAF00009071776 | cram | 2.0 GB |
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| EGAF00009071777 | cram | 2.1 GB |
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| EGAF00009071778 | cram | 5.5 GB |
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| EGAF00009071779 | cram | 3.7 GB |
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| EGAF00009071780 | cram | 352.6 MB |
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| EGAF00009071781 | cram | 754.6 MB |
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| EGAF00009071782 | cram | 535.6 MB |
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| EGAF00009071783 | cram | 760.2 MB |
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| EGAF00009071784 | cram | 414.2 MB |
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| EGAF00009071785 | cram | 1.3 GB |
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| EGAF00009071786 | cram | 1.7 GB |
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| EGAF00009071787 | cram | 1.8 GB |
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| EGAF00009071788 | cram | 2.2 GB |
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| EGAF00009071789 | cram | 1.9 GB |
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| EGAF00009071790 | cram | 1.1 GB |
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| EGAF00009071791 | cram | 1.4 GB |
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| EGAF00009071792 | cram | 708.2 MB |
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| EGAF00009071793 | cram | 1.1 GB |
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| EGAF00009071794 | cram | 285.2 MB |
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| EGAF00009071795 | cram | 1.1 GB |
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| EGAF00009071796 | cram | 2.1 GB |
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| EGAF00009071797 | cram | 1.3 GB |
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| EGAF00009071798 | cram | 1.6 GB |
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| EGAF00009071799 | cram | 1.4 GB |
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| EGAF00009071800 | cram | 1.8 GB |
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| EGAF00009071801 | cram | 1.9 GB |
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| EGAF00009071802 | cram | 3.0 GB |
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| EGAF00009071803 | cram | 1.9 GB |
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| EGAF00009071804 | cram | 4.0 GB |
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| EGAF00009071805 | cram | 2.1 GB |
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| EGAF00009071806 | cram | 2.3 GB |
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| EGAF00009071807 | cram | 1.6 GB |
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| EGAF00009071808 | cram | 1.4 GB |
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| EGAF00009071809 | cram | 1.8 GB |
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| EGAF00009071810 | cram | 2.5 GB |
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| EGAF00009071811 | cram | 2.2 GB |
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| EGAF00009071812 | cram | 2.1 GB |
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| EGAF00009071813 | cram | 8.0 GB |
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| EGAF00009071814 | cram | 1.9 GB |
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| EGAF00009071815 | cram | 1.7 GB |
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| EGAF00009071816 | cram | 1.7 GB |
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| EGAF00009071817 | cram | 2.3 GB |
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| EGAF00009071818 | cram | 2.1 GB |
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| EGAF00009071819 | cram | 2.3 GB |
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| EGAF00009071820 | cram | 2.2 GB |
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| EGAF00009071821 | cram | 2.1 GB |
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| EGAF00009071822 | cram | 2.0 GB |
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| EGAF00009071823 | cram | 1.8 GB |
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| EGAF00009071824 | cram | 1.8 GB |
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| EGAF00009071825 | cram | 1.8 GB |
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| EGAF00009071826 | cram | 2.7 GB |
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| EGAF00009071827 | cram | 2.1 GB |
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| EGAF00009071828 | cram | 1.9 GB |
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| EGAF00009071829 | cram | 436.7 MB |
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| EGAF00009071830 | cram | 1.6 GB |
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| EGAF00009071831 | cram | 2.1 GB |
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| EGAF00009071832 | cram | 1.6 GB |
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| EGAF00009071833 | cram | 2.4 GB |
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| EGAF00009071834 | cram | 2.1 GB |
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| EGAF00009071835 | cram | 2.0 GB |
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| EGAF00009071836 | cram | 1.9 GB |
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| EGAF00009071837 | cram | 2.2 GB |
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| EGAF00009071838 | cram | 3.7 GB |
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| EGAF00009071839 | cram | 2.6 GB |
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| EGAF00009071840 | cram | 1.7 GB |
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| EGAF00009071841 | cram | 2.3 GB |
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| EGAF00009071842 | cram | 2.1 GB |
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| EGAF00009071843 | cram | 2.1 GB |
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| EGAF00009071844 | cram | 2.8 GB |
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| EGAF00009071845 | cram | 2.1 GB |
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| EGAF00009071846 | cram | 3.4 GB |
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| EGAF00009071847 | cram | 2.1 GB |
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| EGAF00009071848 | cram | 2.3 GB |
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| EGAF00009071849 | cram | 2.0 GB |
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| EGAF00009071850 | cram | 1.2 GB |
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| EGAF00009071851 | cram | 3.2 GB |
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| EGAF00009071852 | cram | 2.0 GB |
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| EGAF00009071853 | cram | 2.1 GB |
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| EGAF00009071854 | cram | 5.5 GB |
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| EGAF00009071855 | cram | 3.6 GB |
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| EGAF00009072459 | cram | 4.6 GB |
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| EGAF00009072460 | cram | 8.3 GB |
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| EGAF00009072461 | cram | 9.9 GB |
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| EGAF00009072462 | cram | 13.1 GB |
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| EGAF00009072463 | cram | 13.1 GB |
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| EGAF00009072464 | cram | 11.9 GB |
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| EGAF00009072465 | cram | 11.7 GB |
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| EGAF00009072466 | cram | 11.4 GB |
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| EGAF00009072467 | cram | 10.6 GB |
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| EGAF00009072468 | cram | 9.8 GB |
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| EGAF00009072469 | cram | 13.1 GB |
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| EGAF00009072470 | cram | 12.8 GB |
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| EGAF00009072471 | cram | 11.7 GB |
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| EGAF00009072472 | cram | 11.9 GB |
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| EGAF00009072473 | cram | 9.5 GB |
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| EGAF00009072474 | cram | 12.6 GB |
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| EGAF00009072475 | cram | 15.2 GB |
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| EGAF00009072476 | cram | 11.1 GB |
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| EGAF00009072477 | cram | 12.7 GB |
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| EGAF00009072478 | cram | 13.1 GB |
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| EGAF00009072479 | cram | 13.6 GB |
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| EGAF00009072480 | cram | 7.3 GB |
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| EGAF00009072481 | cram | 6.8 GB |
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| EGAF00009072482 | cram | 12.5 GB |
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| EGAF00009072483 | cram | 16.3 GB |
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| EGAF00009072484 | cram | 10.2 GB |
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| EGAF00009072485 | cram | 12.1 GB |
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| EGAF00009072486 | cram | 13.5 GB |
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| EGAF00009072487 | cram | 10.5 GB |
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| EGAF00009072488 | cram | 12.0 GB |
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| EGAF00009072489 | cram | 11.0 GB |
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| EGAF00009072490 | cram | 11.4 GB |
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| EGAF00009072491 | cram | 12.8 GB |
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| EGAF00009072492 | cram | 10.2 GB |
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| EGAF00009072493 | cram | 11.9 GB |
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| EGAF00009072494 | cram | 10.5 GB |
|
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| EGAF00009072495 | cram | 12.0 GB |
|
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| EGAF00009072496 | cram | 12.3 GB |
|
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| EGAF00009072497 | cram | 11.7 GB |
|
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| EGAF00009072498 | cram | 12.2 GB |
|
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| EGAF00009072499 | cram | 10.9 GB |
|
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| EGAF00009072500 | cram | 11.3 GB |
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| EGAF00009072501 | cram | 13.1 GB |
|
|
| EGAF00009072502 | cram | 7.2 GB |
|
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| EGAF00009072503 | cram | 11.8 GB |
|
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| EGAF00009072504 | cram | 10.3 GB |
|
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| EGAF00009072505 | cram | 14.3 GB |
|
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| EGAF00009072506 | cram | 12.3 GB |
|
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| EGAF00009072507 | cram | 12.8 GB |
|
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| EGAF00009072508 | cram | 11.5 GB |
|
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| EGAF00009072509 | cram | 11.7 GB |
|
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| EGAF00009072510 | cram | 9.3 GB |
|
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| EGAF00009072511 | cram | 14.9 GB |
|
|
| EGAF00009072512 | cram | 12.0 GB |
|
|
| EGAF00009072513 | cram | 9.0 GB |
|
|
| EGAF00009072514 | cram | 12.4 GB |
|
|
| EGAF00009072515 | cram | 10.7 GB |
|
|
| EGAF00009072516 | cram | 11.6 GB |
|
|
| EGAF00009072517 | cram | 14.4 GB |
|
|
| EGAF00009072518 | cram | 11.1 GB |
|
|
| EGAF00009072519 | cram | 12.3 GB |
|
|
| EGAF00009072520 | cram | 13.0 GB |
|
|
| EGAF00009072521 | cram | 11.3 GB |
|
|
| EGAF00009072522 | cram | 10.3 GB |
|
|
| EGAF00009072523 | cram | 7.9 GB |
|
|
| 320 Files (1.8 TB) | ||||