CARMN fusions and PDGFRB mutations highlight key differences amongst cutaneous tumors with myopericytic differentiation - DERMATLAS: Glomus tumour_WES
Cutaneous tumors with myopericytic differentiation (PTs) are a family of soft tissue tumors arising from pericytes, encompassing myopericytoma (MPC), glomus tumor (GT) and angioleiomyoma (ALM). These tumors represent a morphological continuum, with some cases showing overlapping features. Molecular studies of PTs to date have focussed on either their mutational profile or gene fusions, however, it remains to be determined how these alterations overlap and if they can explain the subtle morphological differences between these subtypes. Thus, we collated an international cohort of formalin-fixed, paraffin-embedded PTs, comprised of MPC, GT and ALM cases. We performed tumor and normal DNA whole-exome sequencing and tumor RNA exome-capture transcriptome sequencing from cases for which both tumor and matched normal tissue were available (‘matched’ cohort) or which tumor-only tissue was available (‘unmatched’ cohort).
- 11/05/2026
- 107 samples
- 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 |
|---|---|---|
| EGAS00001005712 | Cancer Genomics |
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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|---|---|---|---|---|
| EGAF00008060858 | cram | 1.6 GB |
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| EGAF00008060859 | cram | 142.3 MB |
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| EGAF00008060860 | cram | 1.3 GB |
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| EGAF00008060861 | cram | 1.6 GB |
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| EGAF00008060863 | cram | 1.5 GB |
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| EGAF00008060864 | cram | 2.1 GB |
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| EGAF00008060865 | cram | 1.5 GB |
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| EGAF00008060866 | cram | 1.4 GB |
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| EGAF00008060867 | cram | 1.7 GB |
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| EGAF00008060868 | cram | 1.1 GB |
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| EGAF00008060869 | cram | 1.1 GB |
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| EGAF00008060870 | cram | 1.3 GB |
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| EGAF00008060871 | cram | 1.0 GB |
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| EGAF00008060872 | cram | 1.5 GB |
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| EGAF00008060874 | cram | 1.8 GB |
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| EGAF00008060875 | cram | 1.7 GB |
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| EGAF00008060876 | cram | 2.0 GB |
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| EGAF00008060877 | cram | 1.1 GB |
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| EGAF00008060878 | cram | 1.5 GB |
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| EGAF00008060879 | cram | 1.3 GB |
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| EGAF00008060880 | cram | 1.1 GB |
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| EGAF00008060881 | cram | 1.2 GB |
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| EGAF00008060882 | cram | 1.3 GB |
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| EGAF00008060883 | cram | 1.3 GB |
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| EGAF00008060885 | cram | 1.3 GB |
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| EGAF00008060886 | cram | 1.1 GB |
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| EGAF00008060887 | cram | 1.2 GB |
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| EGAF00008060888 | cram | 1.0 GB |
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| EGAF00008060889 | cram | 991.7 MB |
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| EGAF00008060890 | cram | 1.1 GB |
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| EGAF00008060891 | cram | 989.2 MB |
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| EGAF00008060892 | cram | 967.9 MB |
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| EGAF00008060893 | cram | 1.4 GB |
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| EGAF00008060894 | cram | 767.5 MB |
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| EGAF00008060896 | cram | 981.9 MB |
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| EGAF00008060948 | cram | 1.7 GB |
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| EGAF00008060949 | cram | 147.0 MB |
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| EGAF00008060950 | cram | 1.4 GB |
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| EGAF00008060951 | cram | 1.7 GB |
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| EGAF00008060953 | cram | 1.6 GB |
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| EGAF00008060954 | cram | 2.2 GB |
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| EGAF00008060955 | cram | 1.6 GB |
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| EGAF00008060956 | cram | 1.5 GB |
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| EGAF00008060957 | cram | 1.8 GB |
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| EGAF00008060958 | cram | 1.2 GB |
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| EGAF00008060959 | cram | 1.1 GB |
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| EGAF00008060960 | cram | 1.3 GB |
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| EGAF00008060961 | cram | 1.1 GB |
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| EGAF00008060962 | cram | 1.5 GB |
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| EGAF00008060964 | cram | 1.8 GB |
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| EGAF00008060965 | cram | 1.7 GB |
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| EGAF00008060966 | cram | 2.1 GB |
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| EGAF00008060967 | cram | 1.1 GB |
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| EGAF00008060968 | cram | 1.6 GB |
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| EGAF00008060969 | cram | 1.3 GB |
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| EGAF00008060970 | cram | 1.2 GB |
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| EGAF00008060971 | cram | 1.3 GB |
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| EGAF00008060972 | cram | 1.3 GB |
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| EGAF00008060973 | cram | 1.3 GB |
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| EGAF00008060975 | cram | 1.4 GB |
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| EGAF00008060976 | cram | 1.2 GB |
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| EGAF00008060977 | cram | 1.3 GB |
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| EGAF00008060978 | cram | 1.1 GB |
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| EGAF00008060979 | cram | 1.0 GB |
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| EGAF00008060980 | cram | 1.2 GB |
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| EGAF00008060981 | cram | 1.0 GB |
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| EGAF00008060982 | cram | 1.0 GB |
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| EGAF00008060983 | cram | 1.5 GB |
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| EGAF00008060984 | cram | 812.3 MB |
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| EGAF00008060986 | cram | 1.0 GB |
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| EGAF00008061038 | cram | 1.7 GB |
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| EGAF00008061039 | cram | 148.7 MB |
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| EGAF00008061040 | cram | 1.4 GB |
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| EGAF00008061041 | cram | 1.7 GB |
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| EGAF00008061043 | cram | 1.6 GB |
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| EGAF00008061044 | cram | 2.2 GB |
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| EGAF00008061045 | cram | 1.6 GB |
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| EGAF00008061046 | cram | 1.5 GB |
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| EGAF00008061047 | cram | 1.9 GB |
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| EGAF00008061048 | cram | 1.2 GB |
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| EGAF00008061049 | cram | 1.1 GB |
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| EGAF00008061050 | cram | 1.4 GB |
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| EGAF00008061051 | cram | 1.1 GB |
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| EGAF00008061052 | cram | 1.6 GB |
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| EGAF00008061054 | cram | 1.9 GB |
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| EGAF00008061055 | cram | 1.7 GB |
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| EGAF00008061056 | cram | 2.1 GB |
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| EGAF00008061057 | cram | 1.1 GB |
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| EGAF00008061058 | cram | 1.6 GB |
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| EGAF00008061059 | cram | 1.3 GB |
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| EGAF00008061060 | cram | 1.2 GB |
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| EGAF00008061061 | cram | 1.3 GB |
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| EGAF00008061062 | cram | 1.4 GB |
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| EGAF00008061063 | cram | 1.3 GB |
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| EGAF00008061065 | cram | 1.4 GB |
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| EGAF00008061066 | cram | 1.2 GB |
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| EGAF00008061067 | cram | 1.3 GB |
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| EGAF00008061068 | cram | 1.1 GB |
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| EGAF00008061069 | cram | 1.1 GB |
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| EGAF00008061070 | cram | 1.2 GB |
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| EGAF00008061071 | cram | 1.0 GB |
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| EGAF00008061072 | cram | 1.0 GB |
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| EGAF00008061073 | cram | 1.5 GB |
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| EGAF00008061074 | cram | 821.6 MB |
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| EGAF00008061076 | cram | 1.0 GB |
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| EGAF00008251829 | cram | 4.0 GB |
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| EGAF00008251830 | cram | 3.1 GB |
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| EGAF00008251831 | cram | 2.4 GB |
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| EGAF00008251832 | cram | 2.8 GB |
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| EGAF00008251833 | cram | 2.9 GB |
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| EGAF00008251834 | cram | 3.5 GB |
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| EGAF00008251835 | cram | 3.6 GB |
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| EGAF00008251836 | cram | 3.0 GB |
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| EGAF00008251837 | cram | 2.2 GB |
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| EGAF00008251838 | cram | 2.5 GB |
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| EGAF00008251839 | cram | 2.4 GB |
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| EGAF00008251840 | cram | 4.6 GB |
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| EGAF00008251841 | cram | 2.2 GB |
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| EGAF00008251842 | cram | 2.8 GB |
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| EGAF00008251843 | cram | 2.3 GB |
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| EGAF00008251844 | cram | 2.3 GB |
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| EGAF00008251845 | cram | 2.3 GB |
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| EGAF00008251846 | cram | 3.4 GB |
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| EGAF00008251847 | cram | 2.8 GB |
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| EGAF00008251850 | cram | 6.2 GB |
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| EGAF00008251851 | cram | 2.6 GB |
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| EGAF00008251852 | cram | 391.6 MB |
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| EGAF00008251853 | cram | 4.1 GB |
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| EGAF00008251854 | cram | 3.4 GB |
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| EGAF00008251855 | cram | 2.3 GB |
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| EGAF00008251856 | cram | 3.5 GB |
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| EGAF00008251857 | cram | 3.1 GB |
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| EGAF00008251858 | cram | 158.5 MB |
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| EGAF00008251859 | cram | 2.6 GB |
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| EGAF00008251860 | cram | 3.3 GB |
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| EGAF00008251861 | cram | 3.1 GB |
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| EGAF00008251862 | cram | 3.6 GB |
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| EGAF00008251863 | cram | 2.3 GB |
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| EGAF00008251864 | cram | 3.1 GB |
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| EGAF00008251865 | cram | 3.5 GB |
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| EGAF00008251866 | cram | 3.7 GB |
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| EGAF00008251868 | cram | 1.2 GB |
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| EGAF00008251869 | cram | 2.5 GB |
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| EGAF00008251870 | cram | 3.2 GB |
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| EGAF00008251871 | cram | 3.8 GB |
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| EGAF00008251872 | cram | 2.8 GB |
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| EGAF00008251873 | cram | 2.1 GB |
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| EGAF00008251874 | cram | 3.6 GB |
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| EGAF00008251875 | cram | 3.7 GB |
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| EGAF00008251876 | cram | 3.1 GB |
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| EGAF00008251877 | cram | 2.7 GB |
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| EGAF00008251878 | cram | 2.3 GB |
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| EGAF00008251879 | cram | 3.3 GB |
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| EGAF00008251880 | cram | 2.9 GB |
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| EGAF00008251881 | cram | 2.1 GB |
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| EGAF00008251882 | cram | 2.3 GB |
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| EGAF00008251883 | cram | 2.8 GB |
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| EGAF00008251884 | cram | 2.5 GB |
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| EGAF00008251885 | cram | 2.6 GB |
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| EGAF00008251886 | cram | 308.8 MB |
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| EGAF00008251887 | cram | 783.8 MB |
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| EGAF00008251888 | cram | 3.8 GB |
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| EGAF00008251889 | cram | 3.3 GB |
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| EGAF00008251890 | cram | 3.3 GB |
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| EGAF00008251891 | cram | 719.9 MB |
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| EGAF00008251892 | cram | 2.5 GB |
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| EGAF00008251893 | cram | 4.0 GB |
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| EGAF00008251894 | cram | 3.2 GB |
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| EGAF00008251895 | cram | 2.4 GB |
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| EGAF00008251896 | cram | 2.9 GB |
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| EGAF00008251897 | cram | 2.9 GB |
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| EGAF00008251898 | cram | 3.6 GB |
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| EGAF00008251899 | cram | 3.7 GB |
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| EGAF00008251900 | cram | 3.0 GB |
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| EGAF00008251901 | cram | 2.3 GB |
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| EGAF00008251902 | cram | 2.5 GB |
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| EGAF00008251903 | cram | 2.4 GB |
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| EGAF00008251904 | cram | 4.7 GB |
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| EGAF00008251905 | cram | 2.3 GB |
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| EGAF00008251906 | cram | 2.8 GB |
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| EGAF00008251907 | cram | 2.4 GB |
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| EGAF00008251908 | cram | 2.3 GB |
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| EGAF00008251909 | cram | 2.3 GB |
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| EGAF00008251910 | cram | 3.5 GB |
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| EGAF00008251911 | cram | 2.9 GB |
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| EGAF00008251914 | cram | 6.2 GB |
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| EGAF00008251915 | cram | 2.7 GB |
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| EGAF00008251916 | cram | 398.0 MB |
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| EGAF00008251917 | cram | 4.2 GB |
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| EGAF00008251918 | cram | 3.4 GB |
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| EGAF00008251919 | cram | 2.4 GB |
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| EGAF00008251920 | cram | 3.5 GB |
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| EGAF00008251921 | cram | 3.1 GB |
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| EGAF00008251922 | cram | 160.2 MB |
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| EGAF00008251923 | cram | 2.6 GB |
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| EGAF00008251924 | cram | 3.3 GB |
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| EGAF00008251925 | cram | 3.2 GB |
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| EGAF00008251926 | cram | 3.7 GB |
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| EGAF00008251927 | cram | 2.4 GB |
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| EGAF00008251928 | cram | 3.2 GB |
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| EGAF00008251929 | cram | 3.5 GB |
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| EGAF00008251930 | cram | 3.7 GB |
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| EGAF00008251932 | cram | 1.2 GB |
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| EGAF00008251933 | cram | 2.6 GB |
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| EGAF00008251934 | cram | 3.2 GB |
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| EGAF00008251935 | cram | 3.9 GB |
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| EGAF00008251936 | cram | 2.9 GB |
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| EGAF00008251937 | cram | 2.1 GB |
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| EGAF00008251938 | cram | 3.7 GB |
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| EGAF00008251939 | cram | 3.8 GB |
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| EGAF00008251940 | cram | 3.1 GB |
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| EGAF00008251941 | cram | 2.7 GB |
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| EGAF00008251942 | cram | 2.4 GB |
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| EGAF00008251943 | cram | 3.4 GB |
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| EGAF00008251944 | cram | 3.0 GB |
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| EGAF00008251945 | cram | 2.1 GB |
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| EGAF00008251946 | cram | 2.4 GB |
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| EGAF00008251947 | cram | 2.8 GB |
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| EGAF00008251948 | cram | 2.6 GB |
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| EGAF00008251949 | cram | 2.7 GB |
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| EGAF00008251950 | cram | 314.0 MB |
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| EGAF00008251951 | cram | 794.0 MB |
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| EGAF00008251952 | cram | 3.9 GB |
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| EGAF00008251953 | cram | 3.3 GB |
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| EGAF00008251954 | cram | 3.3 GB |
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| EGAF00008251955 | cram | 730.4 MB |
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| EGAF00008251956 | cram | 2.6 GB |
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| EGAF00008462255 | cram | 2.0 GB |
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| EGAF00008462256 | cram | 2.7 GB |
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| EGAF00008462257 | cram | 1.9 GB |
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| EGAF00008462258 | cram | 194.9 MB |
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| EGAF00008462259 | cram | 3.7 GB |
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| EGAF00008462260 | cram | 2.9 GB |
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| EGAF00008462261 | cram | 2.4 GB |
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| EGAF00008462262 | cram | 1.6 GB |
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| EGAF00008462263 | cram | 2.4 GB |
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| EGAF00008462264 | cram | 2.8 GB |
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| EGAF00008462265 | cram | 2.1 GB |
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| EGAF00008462266 | cram | 2.0 GB |
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| EGAF00008462267 | cram | 2.7 GB |
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| EGAF00008462268 | cram | 1.9 GB |
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| EGAF00008462269 | cram | 193.4 MB |
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| EGAF00008462270 | cram | 3.6 GB |
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| EGAF00008462271 | cram | 2.9 GB |
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| EGAF00008462272 | cram | 2.3 GB |
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| EGAF00008462273 | cram | 1.6 GB |
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| EGAF00008462274 | cram | 2.4 GB |
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| EGAF00008462275 | cram | 2.7 GB |
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| EGAF00008462276 | cram | 2.1 GB |
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| EGAF00009047805 | vcf.gz | 18.0 MB |
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| EGAF00009047806 | vcf.gz | 70.6 MB |
|
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| EGAF00009047807 | vcf.gz | 39.0 MB |
|
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| EGAF00009047808 | vcf.gz | 834.5 kB |
|
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| EGAF00009047809 | vcf.gz | 44.3 MB |
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| EGAF00009047810 | vcf.gz | 1.2 MB |
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| EGAF00009047811 | vcf.gz | 36.6 MB |
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| EGAF00009047812 | vcf.gz | 1.1 MB |
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| EGAF00009047813 | vcf.gz | 34.9 MB |
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| EGAF00009047814 | vcf.gz | 1.3 MB |
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| EGAF00009047815 | vcf.gz | 36.3 MB |
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| EGAF00009047816 | vcf.gz | 697.1 kB |
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| EGAF00009047817 | vcf.gz | 44.8 MB |
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| EGAF00009047818 | vcf.gz | 1.3 MB |
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| EGAF00009047819 | vcf.gz | 38.2 MB |
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| EGAF00009047820 | vcf.gz | 1.3 MB |
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| EGAF00009047821 | vcf.gz | 12.7 MB |
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| EGAF00009047822 | vcf.gz | 63.7 MB |
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| EGAF00009047823 | vcf.gz | 12.3 MB |
|
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| EGAF00009047824 | vcf.gz | 62.0 MB |
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| EGAF00009047825 | vcf.gz | 14.7 MB |
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| EGAF00009047826 | vcf.gz | 67.4 MB |
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| EGAF00009047827 | vcf.gz | 13.8 MB |
|
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| EGAF00009047828 | vcf.gz | 64.4 MB |
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| EGAF00009047829 | vcf.gz | 33.5 MB |
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| EGAF00009047830 | vcf.gz | 828.8 kB |
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| EGAF00009047831 | vcf.gz | 13.0 MB |
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| EGAF00009047832 | vcf.gz | 62.2 MB |
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| EGAF00009047833 | vcf.gz | 13.1 MB |
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| EGAF00009047834 | vcf.gz | 62.9 MB |
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| EGAF00009047835 | vcf.gz | 15.4 MB |
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| EGAF00009047836 | vcf.gz | 67.0 MB |
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| EGAF00009047837 | vcf.gz | 28.6 MB |
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| EGAF00009047838 | vcf.gz | 752.7 kB |
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| EGAF00009047839 | vcf.gz | 17.4 MB |
|
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| EGAF00009047840 | vcf.gz | 70.2 MB |
|
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| EGAF00009047885 | vcf.gz | 37.2 MB |
|
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| EGAF00009047886 | vcf.gz | 1.9 MB |
|
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| EGAF00009047887 | vcf.gz | 33.0 MB |
|
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| EGAF00009047888 | vcf.gz | 1.1 MB |
|
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| EGAF00009047889 | vcf.gz | 19.7 MB |
|
|
| EGAF00009047890 | vcf.gz | 68.7 MB |
|
|
| EGAF00009047891 | vcf.gz | 36.6 MB |
|
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| EGAF00009047892 | vcf.gz | 1.3 MB |
|
|
| EGAF00009047893 | vcf.gz | 14.3 MB |
|
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| EGAF00009047894 | vcf.gz | 58.7 MB |
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| EGAF00009047895 | vcf.gz | 44.0 MB |
|
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| EGAF00009047896 | vcf.gz | 1.8 MB |
|
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| EGAF00009047897 | vcf.gz | 42.3 MB |
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| EGAF00009047898 | vcf.gz | 1.6 MB |
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| EGAF00009047899 | vcf.gz | 37.4 MB |
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| EGAF00009047900 | vcf.gz | 1.4 MB |
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| EGAF00009047901 | vcf.gz | 37.1 MB |
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| EGAF00009047902 | vcf.gz | 1.5 MB |
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| EGAF00009047903 | vcf.gz | 18.9 MB |
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| EGAF00009047904 | vcf.gz | 74.7 MB |
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| EGAF00009047905 | vcf.gz | 50.0 MB |
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| EGAF00009047906 | vcf.gz | 1.7 MB |
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| EGAF00009047909 | vcf.gz | 29.3 MB |
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| EGAF00009047910 | vcf.gz | 89.6 MB |
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| EGAF00009047911 | vcf.gz | 50.3 MB |
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| EGAF00009047912 | vcf.gz | 2.6 MB |
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| EGAF00009047913 | vcf.gz | 20.2 MB |
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| EGAF00009047914 | vcf.gz | 75.7 MB |
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| EGAF00009047915 | vcf.gz | 52.9 MB |
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| EGAF00009047916 | vcf.gz | 1.8 MB |
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| EGAF00009047917 | vcf.gz | 51.9 MB |
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| EGAF00009047918 | vcf.gz | 1.8 MB |
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| EGAF00009047919 | vcf.gz | 54.2 MB |
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| EGAF00009047920 | vcf.gz | 1.1 MB |
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| EGAF00009047921 | vcf.gz | 59.6 MB |
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| EGAF00009047922 | vcf.gz | 2.2 MB |
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| EGAF00009047923 | vcf.gz | 55.3 MB |
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| EGAF00009047924 | vcf.gz | 1.2 MB |
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| EGAF00009047925 | vcf.gz | 59.2 MB |
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| EGAF00009047926 | vcf.gz | 2.0 MB |
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| EGAF00009047927 | vcf.gz | 40.2 MB |
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| EGAF00009047928 | vcf.gz | 2.7 MB |
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| EGAF00009047929 | vcf.gz | 14.5 MB |
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| EGAF00009047930 | vcf.gz | 57.5 MB |
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| EGAF00009047931 | vcf.gz | 19.5 MB |
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| EGAF00009047932 | vcf.gz | 68.7 MB |
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| EGAF00009047933 | vcf.gz | 31.5 MB |
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| EGAF00009047934 | vcf.gz | 105.1 MB |
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| EGAF00009047935 | vcf.gz | 51.8 MB |
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| EGAF00009047936 | vcf.gz | 2.7 MB |
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| EGAF00009047937 | vcf.gz | 58.5 MB |
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| EGAF00009047938 | vcf.gz | 1.3 MB |
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| EGAF00009047939 | vcf.gz | 29.0 MB |
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| EGAF00009047940 | vcf.gz | 90.2 MB |
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| EGAF00009047941 | vcf.gz | 55.5 MB |
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| EGAF00009047942 | vcf.gz | 2.9 MB |
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| EGAF00009048021 | vcf.gz | 18.2 MB |
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| EGAF00009048022 | vcf.gz | 69.3 MB |
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| EGAF00009048023 | vcf.gz | 22.6 MB |
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| EGAF00009048024 | vcf.gz | 80.0 MB |
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| EGAF00009048025 | vcf.gz | 20.8 MB |
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| EGAF00009048026 | vcf.gz | 77.3 MB |
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| EGAF00009048027 | vcf.gz | 20.1 MB |
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| EGAF00009048028 | vcf.gz | 75.5 MB |
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| EGAF00009048029 | vcf.gz | 38.0 MB |
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| EGAF00009048030 | vcf.gz | 1.2 MB |
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| EGAF00009048031 | vcf.gz | 38.3 MB |
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| EGAF00009048032 | vcf.gz | 1.2 MB |
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| EGAF00009048033 | vcf.gz | 21.7 MB |
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| EGAF00009048034 | vcf.gz | 80.1 MB |
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| 355 Files (536.3 GB) | ||||