Mercurial > repos > jjohnson > ensembl_variant_report
annotate ensembl_variant_report.py @ 0:c3a9e63e8c51 draft
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
author | jjohnson |
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date | Fri, 06 Jan 2017 16:19:40 -0500 |
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children | 9e83cc05d384 |
rev | line source |
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0
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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1 #!/usr/bin/env python |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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2 """ |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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3 Report variants to Ensembl Transcripts |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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4 |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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5 FrameShift report line |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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6 # Gene Variant Position Reference Variation Prevalence Sequencing Depth Transcript AA Position AA change AA Length Stop Codon Stop Region AA Variation |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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7 TIGD6 chr5:149374879 AAG AG 1.00 13 ENSG00000164296|ENST00000296736 345 Q344 522 A-TGA-T KRWTSSRPST* |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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8 |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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9 MissSense report line |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
parents:
diff
changeset
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10 # Gene Variant Position Reference Variation Prevalence Sequencing Depth Transcript AA Position AA change AA Length Stop Codon Stop Region AA Variation |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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11 FN1 chr2:216235089 G A 1.00 7394 ENSG00000115414|ENST00000354785 2261 V2261I 2478 G-TAA TGLTRGATYN_I_IVEALKDQQR |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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12 """ |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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13 import sys |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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14 import os.path |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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15 import re |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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16 import time |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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17 import optparse |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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18 from ensemblref import EnsemblRef |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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19 from Bio.Seq import reverse_complement, translate |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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20 |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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21 |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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22 def __main__(): |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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23 #Parse Command Line |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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24 parser = optparse.OptionParser() |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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25 #I/O |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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26 parser.add_option( '-i', '--input', dest='input', default=None, help='Tabular file with peptide_sequence column' ) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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27 parser.add_option( '-s', '--format', dest='format', default='tabular', choices=['tabular','snpeff'], help='Tabular file with peptide_sequence column' ) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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28 #Columns for tabular input |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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29 parser.add_option( '-C', '--chrom_column', type='int', dest='chrom_column', default=1, help='column ordinal with Ensembl transctip ID' ) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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30 parser.add_option( '-P', '--pos_column', type='int', dest='pos_column', default=2, help='column ordinal with Ensembl transctip ID' ) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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31 parser.add_option( '-R', '--ref_column', type='int', dest='ref_column', default=3, help='column ordinal with Ensembl transctip ID' ) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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32 parser.add_option( '-A', '--alt_column', type='int', dest='alt_column', default=4, help='column ordinal with Ensembl transctip ID' ) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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33 parser.add_option( '-T', '--transcript_column', type='int', dest='transcript_column', default=1, help='column ordinal with Ensembl transctip ID' ) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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34 parser.add_option( '-F', '--dpr_column', type='int', dest='dpr_column', default=1, help='column with VCF: DPR or AD' ) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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35 parser.add_option( '-D', '--dp_column', type='int', dest='dp_column', default=1, help='column with VCF: DP' ) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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36 parser.add_option( '-g', '--gene_model', dest='gene_model', default=None, help='GTF gene model file. Used to annotate NSJ peptide entries.') |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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37 parser.add_option( '-2', '--twobit', dest='twobit', default=None, help='Reference genome in UCSC twobit format') |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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38 #Output file |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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39 parser.add_option( '-o', '--output', dest='output', default=None, help='The output report (else write to stdout)' ) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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40 #filters |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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41 parser.add_option( '-d', '--min_depth', type='int', dest='min_depth', default=None, help='Minimum read depth to report' ) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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42 parser.add_option( '-f', '--min_freq', type='float', dest='min_freq', default=None, help='Minimum variant frequency to report' ) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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43 #peptide options |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
jjohnson
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44 parser.add_option( '-l', '--leading_aa', type='int', dest='leading_aa', default=10, help='Number AAs before missense variant' ) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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45 parser.add_option( '-t', '--trailing_aa', type='int', dest='trailing_aa', default=10, help='Number AAs after missense variant' ) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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46 parser.add_option( '-r', '--readthrough', type='int', dest='readthrough', default=0, help='' ) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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47 # |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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48 parser.add_option('--debug', dest='debug', action='store_true', default=False, help='Print debugging messages') |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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49 (options, args) = parser.parse_args() |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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50 |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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51 ##INPUTS## |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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52 if options.input != None: |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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53 try: |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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54 inputPath = os.path.abspath(options.input) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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55 inputFile = open(inputPath, 'r') |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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56 except Exception, e: |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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57 print >> sys.stderr, "failed: %s" % e |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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58 exit(2) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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59 else: |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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60 inputFile = sys.stdin |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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61 |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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62 if options.output != None: |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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63 try: |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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64 outputPath = os.path.abspath(options.output) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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65 outputFile = open(outputPath, 'w') |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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66 except Exception, e: |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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67 print >> sys.stderr, "failed: %s" % e |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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68 exit(3) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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69 else: |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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70 outputFile = sys.stdout |
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71 |
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72 def parse_tabular(): |
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73 ci = options.chrom_column - 1 |
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74 pi = options.pos_column - 1 |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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75 ri = options.ref_column - 1 |
c3a9e63e8c51
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76 ai = options.alt_column - 1 |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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77 ti = options.transcript_column - 1 |
c3a9e63e8c51
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78 di = options.dp_column - 1 |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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79 fi = options.dpr_column - 1 |
c3a9e63e8c51
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80 for linenum,line in enumerate(inputFile): |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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81 if options.debug: |
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planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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82 print >> sys.stderr, "%d: %s\n" % (linenum,line) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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83 if line.startswith('#'): |
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planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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84 continue |
c3a9e63e8c51
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85 if line.strip() == '': |
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86 continue |
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87 fields = line.rstrip('\r\n').split('\t') |
c3a9e63e8c51
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88 transcript = fields[ti] |
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89 if not transcript: |
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90 print >> sys.stderr, "%d: %s\n" % (linenum,line) |
c3a9e63e8c51
planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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91 continue |
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92 chrom = fields[ci] |
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93 pos = int(fields[pi]) |
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94 ref = fields[ri] |
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95 alt = fields[ai] |
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96 dp = int(fields[di]) |
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97 dpr = [int(x) for x in fields[fi].split(',')] |
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98 yield (transcript,pos,ref,alt,dp,dpr) |
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99 |
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100 def parse_snpeff_vcf(): |
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101 for linenum,line in enumerate(inputFile): |
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102 if line.startswith('##'): |
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103 if line.find('SnpEffVersion=') > 0: |
c3a9e63e8c51
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104 SnpEffVersion = re.search('SnpEffVersion="?(\d+\.\d+)',line).groups()[0] |
c3a9e63e8c51
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105 elif line.startswith('#CHROM'): |
c3a9e63e8c51
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106 pass |
c3a9e63e8c51
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107 else: |
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108 fields = line.strip('\r\n').split('\t') |
c3a9e63e8c51
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109 if options.debug: print >> sys.stderr, "\n%s" % (fields) |
c3a9e63e8c51
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110 (chrom, pos, id, ref, alts, qual, filter, info) = fields[0:8] |
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111 pos = int(pos) |
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112 qual = float(qual) |
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113 for info_item in info.split(';'): |
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114 if info_item.find('=') < 0: continue |
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115 (key, val) = info_item.split('=', 1) |
c3a9e63e8c51
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116 if key == 'DP': |
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117 dp = int(val) |
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118 if key == 'DPR': |
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119 dpr = dpr = [int(x) for x in val.split(',')] |
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120 if key in ['EFF','ANN']: |
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121 for effect in val.split(','): |
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122 if options.debug: print >> sys.stderr, "\n%s" % (effect.split('|')) |
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123 if key == 'ANN': |
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124 (alt,eff,impact,gene_name,gene_id,feature_type,transcript,biotype,exon,c_hgvs,p_hgvs,cdna,cds,aa,distance,info) = effect.split('|') |
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125 elif key == 'EFF': |
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126 (eff, effs) = effect.rstrip(')').split('(') |
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127 (impact, functional_class, codon_change, aa_change, aa_len, gene_name, biotype, coding, transcript, exon, alt) = effs.split('|')[0:11] |
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128 yield (transcript,pos,ref,alt,dp,dpr) |
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129 |
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130 |
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131 #Process gene model |
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132 ens_ref = None |
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133 if options.gene_model != None: |
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134 try: |
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135 geneModelFile = os.path.abspath(options.gene_model) |
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136 twoBitFile = os.path.abspath(options.twobit) |
c3a9e63e8c51
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137 print >> sys.stderr, "Parsing ensembl ref: %s %s" % (options.gene_model,options.twobit) |
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138 time1 = time.time() |
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139 ens_ref = EnsemblRef(geneModelFile,twoBitFile) |
c3a9e63e8c51
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140 time2 = time.time() |
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141 print >> sys.stderr, "Parsing ensembl ref: %d seconds" % (int(time2-time1)) |
c3a9e63e8c51
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142 except Exception, e: |
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143 print >> sys.stderr, "Parsing gene model failed: %s" % e |
c3a9e63e8c51
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144 exit(2) |
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planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit 239c1ee096e5fc3e2e929f7bf2d4afba5c677d4b-dirty
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145 try: |
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146 parse_input = parse_tabular if options.format == 'tabular' else parse_snpeff_vcf |
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147 for tid,pos1,ref,alt,dp,dpr in parse_input(): |
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148 freq = float(dpr[1])/float(sum(dpr)) if dpr else None |
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149 if options.min_depth and dp is not None and dp < options.min_depth: |
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150 continue |
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151 if options.min_freq and freq is not None and freq < options.min_freq: |
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152 continue |
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153 ## transcript_id, pos, ref, alt, dp, dpr |
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154 tx = ens_ref.get_gtf_transcript(tid) |
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155 coding = ens_ref.transcript_is_coding(tid) |
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156 if not coding: |
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157 continue |
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158 frame_shift = len(ref) != len(alt) |
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159 cds = ens_ref.get_cds(tid) |
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160 pos0 = pos1 - 1 # zero based position |
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161 spos = pos0 if tx.gene.strand else pos0 + len(ref) - 1 |
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162 alt_seq = alt if tx.gene.strand else reverse_complement(alt) |
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163 cds_pos = ens_ref.genome_to_cds_pos(tid, spos) |
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164 alt_cds = cds[:cds_pos] + alt_seq + cds[cds_pos+len(ref):] |
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165 offset = 0 |
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166 if tx.gene.strand: |
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167 for i in range(min(len(ref),len(alt))): |
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168 if ref[i] == alt[i]: |
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169 offset = i |
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170 else: |
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171 break |
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172 else: |
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173 for i in range(-1,-min(len(ref),len(alt)) -1,-1): |
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174 if ref[i] == alt[i]: |
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175 offset = i |
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176 else: |
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177 break |
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178 refpep = translate(cds[:len(cds)/3*3]) |
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179 pep = translate(alt_cds[:len(alt_cds)/3*3]) |
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180 peplen = len(pep) |
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181 aa_pos = (cds_pos + offset) / 3 |
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182 if aa_pos >= len(pep): |
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183 print >> sys.stderr, "%d: %s\n" % (linenum,line) |
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184 continue |
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185 if frame_shift: |
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186 #find stop_codons |
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187 nstops = 0 |
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188 stop_codons = [] |
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189 for i in range(aa_pos,peplen): |
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190 if refpep[i] != pep[i]: |
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191 aa_pos = i |
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192 break |
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193 for i in range(aa_pos,peplen): |
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194 if pep[i] == '*': |
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195 nstops += 1 |
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196 stop_codons.append("%s-%s%s" % (alt_cds[i*3-1],alt_cds[i*3:i*3+3],"-%s" % alt_cds[i*3+4] if len(alt_cds) > i*3 else '')) |
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197 if nstops > options.readthrough: |
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198 reported_peptide = pep[aa_pos:i+1] |
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199 reported_stop_codon = ','.join(stop_codons) |
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200 break |
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201 else: |
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202 reported_stop_codon = "%s-%s" % (alt_cds[peplen*3-4],alt_cds[peplen*3-3:peplen*3]) |
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203 reported_peptide = "%s_%s_%s" % (pep[max(aa_pos-options.leading_aa,0):aa_pos], |
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204 pep[aa_pos], |
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205 pep[aa_pos+1:min(aa_pos+1+options.trailing_aa,len(pep))]) |
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206 cs_pos = aa_pos * 3 |
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207 aa_pos = (cds_pos + offset) / 3 |
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208 ref_codon = cds[cs_pos:cs_pos+3] |
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209 ref_aa = translate(ref_codon) |
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210 alt_codon = alt_cds[cs_pos:cs_pos+3] |
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211 alt_aa = translate(alt_codon) |
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212 gene = tx.gene.names[0] |
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213 report_fields = [tx.gene.names[0], |
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214 '%s:%d %s' % (tx.gene.contig,pos1,'+' if tx.gene.strand else '-'), |
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215 ref, |
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216 alt, |
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217 "%1.2f" % freq if freq is not None else '', |
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218 str(dp), |
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219 "%s|%s" % (tx.gene.gene_id,tx.cdna_id), |
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220 "%d" % (aa_pos + 1), |
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221 "%s%d%s" % (ref_aa,aa_pos + 1,alt_aa), |
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222 "%d" % len(pep), |
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223 reported_stop_codon, |
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224 reported_peptide |
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225 ] |
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226 if options.debug: |
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227 report_fields.append("%d %d %d %d %s %s" % (cds_pos, offset, cs_pos,aa_pos,ref_codon,alt_codon)) |
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228 outputFile.write('\t'.join(report_fields)) |
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229 if options.debug: |
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230 print >> sys.stderr, "%s %s\n%s\n%s\n%s %s" % ( |
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231 cds[cs_pos-6:cs_pos], cds[cs_pos:cs_pos+15], |
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232 translate(cds[cs_pos-6:cs_pos+15]), |
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233 translate(alt_cds[cs_pos-6:cs_pos+15]), |
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234 alt_cds[cs_pos-6:cs_pos], alt_cds[cs_pos:cs_pos+15]) |
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235 outputFile.write('\n') |
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236 except Exception, e: |
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237 print >> sys.stderr, "failed: %s" % e |
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238 exit(1) |
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239 |
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240 |
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241 if __name__ == "__main__" : __main__() |
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242 |