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Standard Sequencing Service Data File Formats File Format V2.0 Software V2.0 March 2012

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Standard Sequencing Service Data File Formats File Format V2.0 Software V2.0 March 2012 Standard Sequencing Service Data File Formats File format v2.0 Software v2.0 March 2012 CGA Tools, cPAL, and DNB are trademarks of Complete Genomics, Inc. in the US and certain other countries. All other trademarks are the property of their respective owners. Disclaimer of Warranties. COMPLETE GENOMICS, INC. PROVIDES THESE DATA IN GOOD FAITH TO THE RECIPIENT “AS IS.” COMPLETE GENOMICS, INC. MAKES NO REPRESENTATION OR WARRANTY, EXPRESS OR IMPLIED, INCLUDING WITHOUT LIMITATION ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE OR USE, OR ANY OTHER STATUTORY WARRANTY. COMPLETE GENOMICS, INC. ASSUMES NO LEGAL LIABILITY OR RESPONSIBILITY FOR ANY PURPOSE FOR WHICH THE DATA ARE USED. Any permitted redistribution of the data should carry the Disclaimer of Warranties provided above. Data file formats are expected to evolve over time. Backward compatibility of any new file format is not guaranteed. Complete Genomics data is for Research Use Only and not for use in the treatment or diagnosis of any human subject. Information, descriptions and specifications in this publication are subject to change without notice. Copyright © 2011-2012 Complete Genomics Incorporated. All rights reserved. RM_DFFSS_2.0-02 Table of Contents Table of Contents Preface ...........................................................................................................................................................................................6 Conventions .................................................................................................................................................................................................. 6 Analysis Tools .............................................................................................................................................................................................. 6 References ..................................................................................................................................................................................................... 6 Introduction ................................................................................................................................................................................9 Sequencing Approach ............................................................................................................................................................................... 9 Mapping Reads and Calling Variations ............................................................................................................................................. 9 Read Data Format....................................................................................................................................................................................... 9 Data Delivery ..............................................................................................................................................................................................10 Data File Formats and Conventions ................................................................................................................................. 11 Data File Structure ...................................................................................................................................................................................11 Header Format...........................................................................................................................................................................................11 Sequence Coordinate System ..............................................................................................................................................................14 Data File Content and Organization .................................................................................................................................................15 ASM Results .............................................................................................................................................................................. 17 Small Variations and Annotations Files..........................................................................................................................................17 Variations .....................................................................................................................................................................................................20 ASM/var-[ASM-ID].tsv.bz2 ..............................................................................................................................................................20 Master Variations .....................................................................................................................................................................................25 ASM/masterVarBeta-[ASM-ID].tsv.bz2 .....................................................................................................................................25 Annotated Variants within Genes .....................................................................................................................................................31 ASM/gene-[ASM-ID].tsv.bz2 ...........................................................................................................................................................31 Annotated Variants within Non-coding RNAs .............................................................................................................................36 ASM/ncRNA-[ASM-ID].tsv.bz2 ......................................................................................................................................................36 Count of Variations by Gene ................................................................................................................................................................38 ASM/geneVarSummary-[ASM-ID].tsv ........................................................................................................................................38 Variations at Known dbSNP Loci .......................................................................................................................................................40 ASM/dbSNPAnnotated-[ASM-ID].tsv.bz2 .................................................................................................................................40 Sequencing Metrics and Variations Summary .............................................................................................................................44 ASM/summary-[ASM-ID].tsv .........................................................................................................................................................44 Copy Number Variation Files ..............................................................................................................................................................48 Copy Number Segmentation ...............................................................................................................................................................50 ASM/CNV/cnvSegmentsDiploidBeta-[ASM-ID].tsv .............................................................................................................50 Detailed Ploidy and Coverage Information ...................................................................................................................................53 ASM/CNV/cnvDetailsDiploidBeta-[ASM-ID].tsv.bz2 ..........................................................................................................53 Genomic Copy Number Analysis of Non-Diploid Samples Files ..........................................................................................56 Non-diploid CNV Segments ..................................................................................................................................................................57 ASM/CNV/cnvSegmentsNondiploidBeta-[ASM-ID].tsv.bz2 .............................................................................................57 Detailed Non-Diploid Coverage Level Information ...................................................................................................................59 ASM/CNV/cnvDetailsNondiploidBeta-[ASM-ID].tsv.bz2 ..................................................................................................59 © Complete Genomics, Inc. Standard Sequencing Service Data File Formats — ii Table of Contents Depth of Coverage Report ....................................................................................................................................................................62 ASM/CNV/depthOfCoverage_100000-[ASM-ID].tsv ...........................................................................................................62 Structural Variation Files ......................................................................................................................................................................65 Detected Junctions and Associated Annotations ........................................................................................................................67 ASM/SV/allJunctionsBeta-[ASM-ID].tsv ...................................................................................................................................67 High-confidence
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