ngs_server 0.1 → 0.2
This diff represents the content of publicly available package versions that have been released to one of the supported registries. The information contained in this diff is provided for informational purposes only and reflects changes between package versions as they appear in their respective public registries.
- data/bin/ngs_server +72 -50
- data/ext/bamtools/extconf.rb +3 -3
- data/ext/vcftools/Makefile +28 -0
- data/ext/vcftools/README.txt +36 -0
- data/ext/vcftools/cpp/.svn/all-wcprops +125 -0
- data/ext/vcftools/cpp/.svn/dir-prop-base +6 -0
- data/ext/vcftools/cpp/.svn/entries +708 -0
- data/ext/vcftools/cpp/.svn/text-base/Makefile.svn-base +46 -0
- data/ext/vcftools/cpp/.svn/text-base/dgeev.cpp.svn-base +146 -0
- data/ext/vcftools/cpp/.svn/text-base/dgeev.h.svn-base +43 -0
- data/ext/vcftools/cpp/.svn/text-base/output_log.cpp.svn-base +79 -0
- data/ext/vcftools/cpp/.svn/text-base/output_log.h.svn-base +34 -0
- data/ext/vcftools/cpp/.svn/text-base/parameters.cpp.svn-base +535 -0
- data/ext/vcftools/cpp/.svn/text-base/parameters.h.svn-base +154 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_entry.cpp.svn-base +497 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_entry.h.svn-base +190 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_entry_getters.cpp.svn-base +421 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_entry_setters.cpp.svn-base +482 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_file.cpp.svn-base +495 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_file.h.svn-base +184 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_file_diff.cpp.svn-base +1282 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_file_filters.cpp.svn-base +1215 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_file_format_convert.cpp.svn-base +1138 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_file_index.cpp.svn-base +171 -0
- data/ext/vcftools/cpp/.svn/text-base/vcf_file_output.cpp.svn-base +3012 -0
- data/ext/vcftools/cpp/.svn/text-base/vcftools.cpp.svn-base +107 -0
- data/ext/vcftools/cpp/.svn/text-base/vcftools.h.svn-base +25 -0
- data/ext/vcftools/cpp/Makefile +46 -0
- data/ext/vcftools/cpp/dgeev.cpp +146 -0
- data/ext/vcftools/cpp/dgeev.h +43 -0
- data/ext/vcftools/cpp/output_log.cpp +79 -0
- data/ext/vcftools/cpp/output_log.h +34 -0
- data/ext/vcftools/cpp/parameters.cpp +535 -0
- data/ext/vcftools/cpp/parameters.h +154 -0
- data/ext/vcftools/cpp/vcf_entry.cpp +497 -0
- data/ext/vcftools/cpp/vcf_entry.h +190 -0
- data/ext/vcftools/cpp/vcf_entry_getters.cpp +421 -0
- data/ext/vcftools/cpp/vcf_entry_setters.cpp +482 -0
- data/ext/vcftools/cpp/vcf_file.cpp +495 -0
- data/ext/vcftools/cpp/vcf_file.h +184 -0
- data/ext/vcftools/cpp/vcf_file_diff.cpp +1282 -0
- data/ext/vcftools/cpp/vcf_file_filters.cpp +1215 -0
- data/ext/vcftools/cpp/vcf_file_format_convert.cpp +1138 -0
- data/ext/vcftools/cpp/vcf_file_index.cpp +171 -0
- data/ext/vcftools/cpp/vcf_file_output.cpp +3012 -0
- data/ext/vcftools/cpp/vcftools.cpp +107 -0
- data/ext/vcftools/cpp/vcftools.h +25 -0
- data/ext/vcftools/examples/.svn/all-wcprops +185 -0
- data/ext/vcftools/examples/.svn/dir-prop-base +6 -0
- data/ext/vcftools/examples/.svn/entries +1048 -0
- data/ext/vcftools/examples/.svn/prop-base/perl-api-1.pl.svn-base +5 -0
- data/ext/vcftools/examples/.svn/text-base/annotate-test.vcf.svn-base +37 -0
- data/ext/vcftools/examples/.svn/text-base/annotate.out.svn-base +23 -0
- data/ext/vcftools/examples/.svn/text-base/annotate.txt.svn-base +7 -0
- data/ext/vcftools/examples/.svn/text-base/annotate2.out.svn-base +52 -0
- data/ext/vcftools/examples/.svn/text-base/annotate3.out.svn-base +23 -0
- data/ext/vcftools/examples/.svn/text-base/cmp-test-a-3.3.vcf.svn-base +12 -0
- data/ext/vcftools/examples/.svn/text-base/cmp-test-a.vcf.svn-base +12 -0
- data/ext/vcftools/examples/.svn/text-base/cmp-test-b-3.3.vcf.svn-base +12 -0
- data/ext/vcftools/examples/.svn/text-base/cmp-test-b.vcf.svn-base +12 -0
- data/ext/vcftools/examples/.svn/text-base/cmp-test.out.svn-base +53 -0
- data/ext/vcftools/examples/.svn/text-base/concat-a.vcf.svn-base +21 -0
- data/ext/vcftools/examples/.svn/text-base/concat-b.vcf.svn-base +13 -0
- data/ext/vcftools/examples/.svn/text-base/concat-c.vcf.svn-base +19 -0
- data/ext/vcftools/examples/.svn/text-base/concat.out.svn-base +39 -0
- data/ext/vcftools/examples/.svn/text-base/invalid-4.0.vcf.svn-base +31 -0
- data/ext/vcftools/examples/.svn/text-base/isec-n2-test.vcf.out.svn-base +19 -0
- data/ext/vcftools/examples/.svn/text-base/merge-test-a.vcf.svn-base +17 -0
- data/ext/vcftools/examples/.svn/text-base/merge-test-b.vcf.svn-base +17 -0
- data/ext/vcftools/examples/.svn/text-base/merge-test-c.vcf.svn-base +15 -0
- data/ext/vcftools/examples/.svn/text-base/merge-test.vcf.out.svn-base +31 -0
- data/ext/vcftools/examples/.svn/text-base/perl-api-1.pl.svn-base +46 -0
- data/ext/vcftools/examples/.svn/text-base/query-test.out.svn-base +6 -0
- data/ext/vcftools/examples/.svn/text-base/shuffle-test.vcf.svn-base +12 -0
- data/ext/vcftools/examples/.svn/text-base/subset.SNPs.out.svn-base +10 -0
- data/ext/vcftools/examples/.svn/text-base/subset.indels.out.svn-base +18 -0
- data/ext/vcftools/examples/.svn/text-base/subset.vcf.svn-base +21 -0
- data/ext/vcftools/examples/.svn/text-base/valid-3.3.vcf.svn-base +30 -0
- data/ext/vcftools/examples/.svn/text-base/valid-4.0.vcf.stats.svn-base +104 -0
- data/ext/vcftools/examples/.svn/text-base/valid-4.0.vcf.svn-base +34 -0
- data/ext/vcftools/examples/.svn/text-base/valid-4.1.vcf.svn-base +37 -0
- data/ext/vcftools/examples/annotate-test.vcf +37 -0
- data/ext/vcftools/examples/annotate.out +23 -0
- data/ext/vcftools/examples/annotate.txt +7 -0
- data/ext/vcftools/examples/annotate2.out +52 -0
- data/ext/vcftools/examples/annotate3.out +23 -0
- data/ext/vcftools/examples/cmp-test-a-3.3.vcf +12 -0
- data/ext/vcftools/examples/cmp-test-a.vcf +12 -0
- data/ext/vcftools/examples/cmp-test-b-3.3.vcf +12 -0
- data/ext/vcftools/examples/cmp-test-b.vcf +12 -0
- data/ext/vcftools/examples/cmp-test.out +53 -0
- data/ext/vcftools/examples/concat-a.vcf +21 -0
- data/ext/vcftools/examples/concat-b.vcf +13 -0
- data/ext/vcftools/examples/concat-c.vcf +19 -0
- data/ext/vcftools/examples/concat.out +39 -0
- data/ext/vcftools/examples/invalid-4.0.vcf +31 -0
- data/ext/vcftools/examples/isec-n2-test.vcf.out +19 -0
- data/ext/vcftools/examples/merge-test-a.vcf +17 -0
- data/ext/vcftools/examples/merge-test-b.vcf +17 -0
- data/ext/vcftools/examples/merge-test-c.vcf +15 -0
- data/ext/vcftools/examples/merge-test.vcf.out +31 -0
- data/ext/vcftools/examples/perl-api-1.pl +46 -0
- data/ext/vcftools/examples/query-test.out +6 -0
- data/ext/vcftools/examples/shuffle-test.vcf +12 -0
- data/ext/vcftools/examples/subset.SNPs.out +10 -0
- data/ext/vcftools/examples/subset.indels.out +18 -0
- data/ext/vcftools/examples/subset.vcf +21 -0
- data/ext/vcftools/examples/valid-3.3.vcf +30 -0
- data/ext/vcftools/examples/valid-4.0.vcf +34 -0
- data/ext/vcftools/examples/valid-4.0.vcf.stats +104 -0
- data/ext/vcftools/examples/valid-4.1.vcf +37 -0
- data/ext/vcftools/extconf.rb +2 -0
- data/ext/vcftools/perl/.svn/all-wcprops +149 -0
- data/ext/vcftools/perl/.svn/entries +844 -0
- data/ext/vcftools/perl/.svn/prop-base/fill-aa.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/fill-an-ac.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/fill-ref-md5.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/tab-to-vcf.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/test.t.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-annotate.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-compare.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-concat.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-convert.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-fix-newlines.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-isec.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-merge.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-query.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-shuffle-cols.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-sort.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-stats.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-subset.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-to-tab.svn-base +5 -0
- data/ext/vcftools/perl/.svn/prop-base/vcf-validator.svn-base +5 -0
- data/ext/vcftools/perl/.svn/text-base/ChangeLog.svn-base +84 -0
- data/ext/vcftools/perl/.svn/text-base/FaSlice.pm.svn-base +214 -0
- data/ext/vcftools/perl/.svn/text-base/Makefile.svn-base +12 -0
- data/ext/vcftools/perl/.svn/text-base/Vcf.pm.svn-base +2853 -0
- data/ext/vcftools/perl/.svn/text-base/VcfStats.pm.svn-base +681 -0
- data/ext/vcftools/perl/.svn/text-base/fill-aa.svn-base +103 -0
- data/ext/vcftools/perl/.svn/text-base/fill-an-ac.svn-base +56 -0
- data/ext/vcftools/perl/.svn/text-base/fill-ref-md5.svn-base +204 -0
- data/ext/vcftools/perl/.svn/text-base/tab-to-vcf.svn-base +92 -0
- data/ext/vcftools/perl/.svn/text-base/test.t.svn-base +376 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-annotate.svn-base +1099 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-compare.svn-base +1193 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-concat.svn-base +310 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-convert.svn-base +180 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-fix-newlines.svn-base +97 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-isec.svn-base +660 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-merge.svn-base +577 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-query.svn-base +272 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-shuffle-cols.svn-base +89 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-sort.svn-base +79 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-stats.svn-base +160 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-subset.svn-base +206 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-to-tab.svn-base +112 -0
- data/ext/vcftools/perl/.svn/text-base/vcf-validator.svn-base +145 -0
- data/ext/vcftools/perl/ChangeLog +84 -0
- data/ext/vcftools/perl/FaSlice.pm +214 -0
- data/ext/vcftools/perl/Makefile +12 -0
- data/ext/vcftools/perl/Vcf.pm +2853 -0
- data/ext/vcftools/perl/VcfStats.pm +681 -0
- data/ext/vcftools/perl/fill-aa +103 -0
- data/ext/vcftools/perl/fill-an-ac +56 -0
- data/ext/vcftools/perl/fill-ref-md5 +204 -0
- data/ext/vcftools/perl/tab-to-vcf +92 -0
- data/ext/vcftools/perl/test.t +376 -0
- data/ext/vcftools/perl/vcf-annotate +1099 -0
- data/ext/vcftools/perl/vcf-compare +1193 -0
- data/ext/vcftools/perl/vcf-concat +310 -0
- data/ext/vcftools/perl/vcf-convert +180 -0
- data/ext/vcftools/perl/vcf-fix-newlines +97 -0
- data/ext/vcftools/perl/vcf-isec +660 -0
- data/ext/vcftools/perl/vcf-merge +577 -0
- data/ext/vcftools/perl/vcf-query +286 -0
- data/ext/vcftools/perl/vcf-shuffle-cols +89 -0
- data/ext/vcftools/perl/vcf-sort +79 -0
- data/ext/vcftools/perl/vcf-stats +160 -0
- data/ext/vcftools/perl/vcf-subset +206 -0
- data/ext/vcftools/perl/vcf-to-tab +112 -0
- data/ext/vcftools/perl/vcf-validator +145 -0
- data/ext/vcftools/website/.svn/all-wcprops +41 -0
- data/ext/vcftools/website/.svn/entries +238 -0
- data/ext/vcftools/website/.svn/prop-base/VCF-poster.pdf.svn-base +5 -0
- data/ext/vcftools/website/.svn/prop-base/favicon.ico.svn-base +5 -0
- data/ext/vcftools/website/.svn/prop-base/favicon.png.svn-base +5 -0
- data/ext/vcftools/website/.svn/text-base/Makefile.svn-base +6 -0
- data/ext/vcftools/website/.svn/text-base/README.svn-base +2 -0
- data/ext/vcftools/website/.svn/text-base/VCF-poster.pdf.svn-base +0 -0
- data/ext/vcftools/website/.svn/text-base/default.css.svn-base +250 -0
- data/ext/vcftools/website/.svn/text-base/favicon.ico.svn-base +0 -0
- data/ext/vcftools/website/.svn/text-base/favicon.png.svn-base +0 -0
- data/ext/vcftools/website/Makefile +6 -0
- data/ext/vcftools/website/README +2 -0
- data/ext/vcftools/website/VCF-poster.pdf +0 -0
- data/ext/vcftools/website/default.css +250 -0
- data/ext/vcftools/website/favicon.ico +0 -0
- data/ext/vcftools/website/favicon.png +0 -0
- data/ext/vcftools/website/img/.svn/all-wcprops +53 -0
- data/ext/vcftools/website/img/.svn/entries +300 -0
- data/ext/vcftools/website/img/.svn/prop-base/bg.gif.svn-base +5 -0
- data/ext/vcftools/website/img/.svn/prop-base/bgcode.gif.svn-base +5 -0
- data/ext/vcftools/website/img/.svn/prop-base/bgcontainer.gif.svn-base +5 -0
- data/ext/vcftools/website/img/.svn/prop-base/bgul.gif.svn-base +5 -0
- data/ext/vcftools/website/img/.svn/prop-base/header.gif.svn-base +5 -0
- data/ext/vcftools/website/img/.svn/prop-base/li.gif.svn-base +5 -0
- data/ext/vcftools/website/img/.svn/prop-base/quote.gif.svn-base +5 -0
- data/ext/vcftools/website/img/.svn/prop-base/search.gif.svn-base +5 -0
- data/ext/vcftools/website/img/.svn/text-base/bg.gif.svn-base +0 -0
- data/ext/vcftools/website/img/.svn/text-base/bgcode.gif.svn-base +0 -0
- data/ext/vcftools/website/img/.svn/text-base/bgcontainer.gif.svn-base +0 -0
- data/ext/vcftools/website/img/.svn/text-base/bgul.gif.svn-base +0 -0
- data/ext/vcftools/website/img/.svn/text-base/header.gif.svn-base +0 -0
- data/ext/vcftools/website/img/.svn/text-base/li.gif.svn-base +0 -0
- data/ext/vcftools/website/img/.svn/text-base/quote.gif.svn-base +0 -0
- data/ext/vcftools/website/img/.svn/text-base/search.gif.svn-base +0 -0
- data/ext/vcftools/website/img/bg.gif +0 -0
- data/ext/vcftools/website/img/bgcode.gif +0 -0
- data/ext/vcftools/website/img/bgcontainer.gif +0 -0
- data/ext/vcftools/website/img/bgul.gif +0 -0
- data/ext/vcftools/website/img/header.gif +0 -0
- data/ext/vcftools/website/img/li.gif +0 -0
- data/ext/vcftools/website/img/quote.gif +0 -0
- data/ext/vcftools/website/img/search.gif +0 -0
- data/ext/vcftools/website/src/.svn/all-wcprops +53 -0
- data/ext/vcftools/website/src/.svn/entries +300 -0
- data/ext/vcftools/website/src/.svn/text-base/docs.inc.svn-base +202 -0
- data/ext/vcftools/website/src/.svn/text-base/index.inc.svn-base +52 -0
- data/ext/vcftools/website/src/.svn/text-base/index.php.svn-base +80 -0
- data/ext/vcftools/website/src/.svn/text-base/license.inc.svn-base +27 -0
- data/ext/vcftools/website/src/.svn/text-base/links.inc.svn-base +13 -0
- data/ext/vcftools/website/src/.svn/text-base/options.inc.svn-base +654 -0
- data/ext/vcftools/website/src/.svn/text-base/perl_module.inc.svn-base +249 -0
- data/ext/vcftools/website/src/.svn/text-base/specs.inc.svn-base +18 -0
- data/ext/vcftools/website/src/docs.inc +202 -0
- data/ext/vcftools/website/src/index.inc +52 -0
- data/ext/vcftools/website/src/index.php +80 -0
- data/ext/vcftools/website/src/license.inc +27 -0
- data/ext/vcftools/website/src/links.inc +13 -0
- data/ext/vcftools/website/src/options.inc +654 -0
- data/ext/vcftools/website/src/perl_module.inc +249 -0
- data/ext/vcftools/website/src/specs.inc +18 -0
- data/lib/config.ru +9 -0
- data/lib/ngs_server/add.rb +9 -0
- data/lib/ngs_server/version.rb +1 -1
- data/lib/ngs_server.rb +55 -3
- data/ngs_server.gemspec +5 -2
- metadata +296 -6
|
@@ -0,0 +1,30 @@
|
|
|
1
|
+
##fileformat=VCFv3.3
|
|
2
|
+
##fileDate=20090805
|
|
3
|
+
##phasing=partial
|
|
4
|
+
##test meta
|
|
5
|
+
##INFO=NS,1,Integer,"Number of Samples With Data"
|
|
6
|
+
##INFO=DP,1,Integer,"Total Depth"
|
|
7
|
+
##INFO=AN,1,Integer,"Total number of alleles in called genotypes"
|
|
8
|
+
##INFO=AC,-1,Integer,"Allele count in genotypes, for each ALT allele, in the same order as listed"
|
|
9
|
+
##INFO=AF,-1,Float,"Allele Frequency"
|
|
10
|
+
##INFO=AA,1,String,"Ancestral Allele"
|
|
11
|
+
##INFO=DB,0,Flag,"dbSNP membership, build 129"
|
|
12
|
+
##INFO=H2,0,Flag,"HapMap2 membership"
|
|
13
|
+
##FILTER=q10,"Quality below 10"
|
|
14
|
+
##FILTER=s50,"Less than 50% of samples have data"
|
|
15
|
+
##FORMAT=GT,1,String,"Genotype"
|
|
16
|
+
##FORMAT=GQ,1,Integer,"Genotype Quality"
|
|
17
|
+
##FORMAT=DP,1,Integer,"Read Depth"
|
|
18
|
+
##FORMAT=HQ,2,Integer,"Haplotype Quality"
|
|
19
|
+
##FORMAT=DS,1,Float,"Alternative Allele Dosage"
|
|
20
|
+
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA00001 NA00002 NA00003
|
|
21
|
+
19 111 . A C 9.6 . . GT:HQ 0|0:10,10 0|0:10,10 0\1:3,3
|
|
22
|
+
19 112 . A G 10 . . GT:HQ 0|0:10,10 0|0:10,10 0\1:3,3
|
|
23
|
+
20 14370 rs6054257 G A 29 0 NS=3;DP=14;AF=0.5;DB;H2 GT:GQ:DP:HQ 0|0:48:1:51,51 1|0:48:8:51,51 1/1:43:5:-1,-1
|
|
24
|
+
20 17330 . T A 3 q10 NS=3;DP=11;AF=0.017 GT:GQ:DP:HQ 0|0:49:3:58,50 0|1:3:5:65,3 0/0:41:3:-1,-1
|
|
25
|
+
20 1110696 rs6040355 A G,T 67 0 NS=2;DP=10;AF=0.333,0.667;AA=T;DB GT:GQ:DP:HQ 1|2:21:6:23,27 2|1:2:0:18,2 2/2:35:4:-1,-1
|
|
26
|
+
20 1230237 . T . 47 0 NS=3;DP=13;AA=T GT:GQ:DP:HQ 0|0:54:-1:56,60 0|0:48:4:51,51 0/0:61:2:-1,-1
|
|
27
|
+
20 1234567 microsat1 G D4,IGA 50 0 NS=3;DP=9;AA=G;AN=6;AC=3,1 GT:GQ:DP 0/1:-1:4 0/2:17:2 1/1:40:3
|
|
28
|
+
20 1235237 . T . -1 . . GT 0\0 0|0 ./.
|
|
29
|
+
X 10 rsTest A T 10 . . GT:DS 0:0.1 0/1:0.5 0|1:0.5
|
|
30
|
+
X 11 rsTest2 T A,G 10 q10;s50 . GT:DP:GQ 0:3:10 .:5:20 0:3:10
|
|
@@ -0,0 +1,104 @@
|
|
|
1
|
+
$VAR1 = {
|
|
2
|
+
'samples' => {
|
|
3
|
+
'NA00002' => {
|
|
4
|
+
'indel_count' => 2,
|
|
5
|
+
'indel' => {
|
|
6
|
+
'2' => 1,
|
|
7
|
+
'-1' => 1
|
|
8
|
+
},
|
|
9
|
+
'het_RA_count' => 6,
|
|
10
|
+
'snp_count' => 5,
|
|
11
|
+
'count' => 11,
|
|
12
|
+
'hom_RR_count' => 4,
|
|
13
|
+
'ref' => 10,
|
|
14
|
+
'missing' => 1,
|
|
15
|
+
'private' => 1,
|
|
16
|
+
'phased' => 7,
|
|
17
|
+
'het_AA_count' => 1,
|
|
18
|
+
'snp' => {
|
|
19
|
+
'A>G' => 1,
|
|
20
|
+
'A>T' => 2,
|
|
21
|
+
'T>A' => 2,
|
|
22
|
+
'G>A' => 1
|
|
23
|
+
},
|
|
24
|
+
'unphased' => 4,
|
|
25
|
+
'ref_count' => 10
|
|
26
|
+
},
|
|
27
|
+
'NA00001' => {
|
|
28
|
+
'het_RA_count' => 1,
|
|
29
|
+
'indel_count' => 1,
|
|
30
|
+
'indel' => {
|
|
31
|
+
'1' => 1
|
|
32
|
+
},
|
|
33
|
+
'snp_count' => 1,
|
|
34
|
+
'count' => 11,
|
|
35
|
+
'hom_RR_count' => 9,
|
|
36
|
+
'ref' => 10,
|
|
37
|
+
'missing' => 1,
|
|
38
|
+
'phased' => 6,
|
|
39
|
+
'het_AA_count' => 1,
|
|
40
|
+
'snp' => {
|
|
41
|
+
'A>T' => 1,
|
|
42
|
+
'A>G' => 1
|
|
43
|
+
},
|
|
44
|
+
'unphased' => 5,
|
|
45
|
+
'ref_count' => 10
|
|
46
|
+
},
|
|
47
|
+
'NA00003' => {
|
|
48
|
+
'hom_AA_count' => 4,
|
|
49
|
+
'other_count' => 2,
|
|
50
|
+
'indel_count' => 1,
|
|
51
|
+
'indel' => {
|
|
52
|
+
'1' => 1
|
|
53
|
+
},
|
|
54
|
+
'het_RA_count' => 5,
|
|
55
|
+
'snp_count' => 6,
|
|
56
|
+
'count' => 11,
|
|
57
|
+
'hom_RR_count' => 2,
|
|
58
|
+
'ref' => 7,
|
|
59
|
+
'missing' => 1,
|
|
60
|
+
'private' => 3,
|
|
61
|
+
'phased' => 2,
|
|
62
|
+
'other' => 2,
|
|
63
|
+
'snp' => {
|
|
64
|
+
'A>C' => 1,
|
|
65
|
+
'A>T' => 2,
|
|
66
|
+
'A>G' => 1,
|
|
67
|
+
'T>A' => 1,
|
|
68
|
+
'G>A' => 1
|
|
69
|
+
},
|
|
70
|
+
'ref_count' => 7,
|
|
71
|
+
'unphased' => 9
|
|
72
|
+
}
|
|
73
|
+
},
|
|
74
|
+
'all' => {
|
|
75
|
+
'other_count' => 2,
|
|
76
|
+
'indel_count' => 2,
|
|
77
|
+
'indel' => {
|
|
78
|
+
'1' => 1,
|
|
79
|
+
'2' => 1,
|
|
80
|
+
'-1' => 1
|
|
81
|
+
},
|
|
82
|
+
'snp_count' => 8,
|
|
83
|
+
'count' => 12,
|
|
84
|
+
'ref' => 2,
|
|
85
|
+
'nalt_0' => 2,
|
|
86
|
+
'nalt_1' => 7,
|
|
87
|
+
'shared' => {
|
|
88
|
+
'1' => 4,
|
|
89
|
+
'0' => 2,
|
|
90
|
+
'3' => 2,
|
|
91
|
+
'2' => 4
|
|
92
|
+
},
|
|
93
|
+
'other' => 2,
|
|
94
|
+
'nalt_2' => 3,
|
|
95
|
+
'snp' => {
|
|
96
|
+
'A>C' => 1,
|
|
97
|
+
'A>T' => 2,
|
|
98
|
+
'A>G' => 2,
|
|
99
|
+
'T>A' => 3,
|
|
100
|
+
'G>A' => 1
|
|
101
|
+
},
|
|
102
|
+
'ref_count' => 2
|
|
103
|
+
}
|
|
104
|
+
};
|
|
@@ -0,0 +1,34 @@
|
|
|
1
|
+
##fileformat=VCFv4.0
|
|
2
|
+
##fileDate=20090805
|
|
3
|
+
##source=myImputationProgramV3.1
|
|
4
|
+
##reference=1000GenomesPilot-NCBI36
|
|
5
|
+
##phasing=partial
|
|
6
|
+
##INFO=<ID=NS,Number=1,Type=Integer,Description="Number of Samples With Data">
|
|
7
|
+
##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes">
|
|
8
|
+
##INFO=<ID=AC,Number=.,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed">
|
|
9
|
+
##INFO=<ID=DP,Number=1,Type=Integer,Description="Total Depth">
|
|
10
|
+
##INFO=<ID=AF,Number=.,Type=Float,Description="Allele Frequency">
|
|
11
|
+
##INFO=<ID=AA,Number=1,Type=String,Description="Ancestral Allele">
|
|
12
|
+
##INFO=<ID=DB,Number=0,Type=Flag,Description="dbSNP membership, build 129">
|
|
13
|
+
##INFO=<ID=H2,Number=0,Type=Flag,Description="HapMap2 membership">
|
|
14
|
+
##FILTER=<ID=q10,Description="Quality below 10">
|
|
15
|
+
##FILTER=<ID=s50,Description="Less than 50% of samples have data">
|
|
16
|
+
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
|
|
17
|
+
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
|
|
18
|
+
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth">
|
|
19
|
+
##FORMAT=<ID=HQ,Number=2,Type=Integer,Description="Haplotype Quality">
|
|
20
|
+
##ALT=<ID=DEL:ME:ALU,Description="Deletion of ALU element">
|
|
21
|
+
##ALT=<ID=CNV,Description="Copy number variable region">
|
|
22
|
+
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA00001 NA00002 NA00003
|
|
23
|
+
19 111 . A C 9.6 . . GT:HQ 0|0:10,10 0|0:10,10 0/1:3,3
|
|
24
|
+
19 112 . A G 10 . . GT:HQ 0|0:10,10 0|0:10,10 0/1:3,3
|
|
25
|
+
20 14370 rs6054257 G A 29 PASS NS=3;DP=14;AF=0.5;DB;H2 GT:GQ:DP:HQ 0|0:48:1:51,51 1|0:48:8:51,51 1/1:43:5:.,.
|
|
26
|
+
20 17330 . T A 3 q10 NS=3;DP=11;AF=0.017 GT:GQ:DP:HQ 0|0:49:3:58,50 0|1:3:5:65,3 0/0:41:3:.,.
|
|
27
|
+
20 1110696 rs6040355 A G,T 67 PASS NS=2;DP=10;AF=0.333,0.667;AA=T;DB GT:GQ:DP:HQ 1|2:21:6:23,27 2|1:2:0:18,2 2/2:35:4:.,.
|
|
28
|
+
20 1230237 . T . 47 PASS NS=3;DP=13;AA=T GT:GQ:DP:HQ 0|0:54:.:56,60 0|0:48:4:51,51 0/0:61:2:.,.
|
|
29
|
+
20 1234567 microsat1 G GA,GAC 50 PASS NS=3;DP=9;AA=G;AN=6;AC=3,1 GT:GQ:DP 0/1:.:4 0/2:17:2 1/1:40:3
|
|
30
|
+
20 1235237 . T . . . . GT 0/0 0|0 ./.
|
|
31
|
+
X 9 . A T 12.1 . . GT 0 0/1 1/0
|
|
32
|
+
X 10 rsTest AC A,ATG 10 PASS . GT 0 0/1 0|2
|
|
33
|
+
X 11 rsTest2 T A,<DEL:ME:ALU> 10 q10;s50 . GT:DP:GQ .:3:10 ./. 0|2:3
|
|
34
|
+
X 12 . T A 13 . . GT 0 1/0 1/1
|
|
@@ -0,0 +1,37 @@
|
|
|
1
|
+
##fileformat=VCFv4.1
|
|
2
|
+
##fileDate=20090805
|
|
3
|
+
##source=myImputationProgramV3.1
|
|
4
|
+
##phasing=partial
|
|
5
|
+
##INFO=<ID=NS,Number=1,Type=Integer,Description="Number of Samples With Data">
|
|
6
|
+
##INFO=<ID=DP,Number=1,Type=Integer,Description="Total Depth">
|
|
7
|
+
##INFO=<ID=AF,Number=A,Type=Float,Description="Allele Frequency">
|
|
8
|
+
##INFO=<ID=AA,Number=1,Type=String,Description="Ancestral Allele">
|
|
9
|
+
##INFO=<ID=DB,Number=0,Type=Flag,Description="dbSNP membership, build 129">
|
|
10
|
+
##INFO=<ID=H2,Number=0,Type=Flag,Description="HapMap2 membership">
|
|
11
|
+
##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant">
|
|
12
|
+
##FILTER=<ID=q10,Description="Quality below 10 (\"with quotes\")">
|
|
13
|
+
##FILTER=<ID=s50,Description="Less than 50% of samples have data (with \\ backslash)">
|
|
14
|
+
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
|
|
15
|
+
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
|
|
16
|
+
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth">
|
|
17
|
+
##FORMAT=<ID=HQ,Number=2,Type=Integer,Description="Haplotype Quality">
|
|
18
|
+
##reference=file:/lustre/scratch105/projects/g1k/ref/main_project/human_g1k_v37.fasta
|
|
19
|
+
##contig=<ID=19,length=59128983,md5=1aacd71f30db8e561810913e0b72636d,species="Homo Sapiens">
|
|
20
|
+
##contig=<ID=20,length=63025520,md5=0dec9660ec1efaaf33281c0d5ea2560f,species="Homo Sapiens">
|
|
21
|
+
##SAMPLE=<ID=Blood,Genomes=Germline,Mixture=1.,Description="Patient germline genome">
|
|
22
|
+
##SAMPLE=<ID=TissueSample,Genomes=Germline;Tumor,Mixture=.3;.7,Description="Patient germline genome;Patient tumor genome">
|
|
23
|
+
##PEDIGREE=<Derived=ID2,Original=ID1>
|
|
24
|
+
##PEDIGREE=<Child=CHILD-GENOME-ID,Mother=MOTHER-GENOME-ID,Father=FATHER-GENOME-ID>
|
|
25
|
+
##pedigreeDB=url
|
|
26
|
+
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA00001 NA00002 NA00003
|
|
27
|
+
19 14370 rs6054257 G A 29 PASS NS=3;DP=14;AF=0.5;DB;H2 GT:GQ:DP:HQ 0|0:48:1:51,51 1|0:48:8:51,51 1/1:43:5:.,.
|
|
28
|
+
20 17330 . T A 3 q10 NS=3;DP=11;AF=0.017 GT:GQ:DP:HQ 0|0:49:3:58,50 0|1:3:5:65,3 0/0:41:3
|
|
29
|
+
20 1110696 rs6040355 A G,T 67 PASS NS=2;DP=10;AF=0.333,0.667;AA=T;DB GT:GQ:DP:HQ 1|2:21:6:23,27 2|1:2:0:18,2 2/2:35:4
|
|
30
|
+
20 1230237 . T . 47 PASS NS=3;DP=13;AA=T GT:GQ:DP:HQ 0|0:54:7:56,60 0|0:48:4:51,51 0/0:61:2
|
|
31
|
+
20 1234567 microsat1 GTC G,GTCTC 50 PASS NS=3;DP=9;AA=G GT:GQ:DP 0/1:35:4 0/2:17:2 1/1:40:3
|
|
32
|
+
20 2234567 . C [13:123457[ACGC 50 PASS SVTYPE=BND;NS=3;DP=9;AA=G GT:GQ:DP 0/1:35:4 0/1:17:2 1/1:40:3
|
|
33
|
+
20 2234568 . C .CT 50 PASS SVTYPE=BND;NS=3;DP=9;AA=G GT:GQ:DP 0/1:35:4 0/1:17:2 1/1:40:3
|
|
34
|
+
20 2234569 . C TC. 50 PASS SVTYPE=BND;NS=3;DP=9;AA=G GT:GQ:DP 0/1:35:4 0/1:17:2 1/1:40:3
|
|
35
|
+
20 3234569 . C <INV> 50 PASS SVTYPE=BND;NS=3;DP=9;AA=G GT:GQ:DP 0/1:35:4 0/1:17:2 1/1/0:40:3
|
|
36
|
+
20 4234569 . N .[13:123457[ 50 PASS SVTYPE=BND;NS=3;DP=9;AA=G GT:GQ:DP 0/1:35:4 0/1:17:2 ./.:40:3
|
|
37
|
+
20 5234569 . N [13:123457[. 50 PASS SVTYPE=BND;NS=3;DP=9;AA=G GT:GQ:DP 0/1:35:4 0/1:17:2 1/1:40:3
|
|
@@ -0,0 +1,37 @@
|
|
|
1
|
+
##fileformat=VCFv4.0
|
|
2
|
+
##INFO=<ID=DP,Number=1,Type=Integer,Description="Total Depth">
|
|
3
|
+
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
|
|
4
|
+
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
|
|
5
|
+
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth">
|
|
6
|
+
##FILTER=<ID=q10,Description="Quality below 10">
|
|
7
|
+
#CHROM POS ID REF ALT QUAL FILTER INFO
|
|
8
|
+
1 100 . GTTT G 1806 q10 DP=35
|
|
9
|
+
1 104 . C . 1792 PASS DP=32
|
|
10
|
+
1 105 . C T 246 PASS DP=10
|
|
11
|
+
1 106 . C A 246 PASS DP=10
|
|
12
|
+
2 107 . C . 1806 q10 DP=35
|
|
13
|
+
2 108 . C . 1792 PASS DP=32
|
|
14
|
+
2 109 . C . 628 q10 DP=21
|
|
15
|
+
2 110 . C G 1016 PASS DP=22
|
|
16
|
+
2 111 . C G 727 PASS DP=30
|
|
17
|
+
2 112 . C G 246 PASS DP=10
|
|
18
|
+
2 113 . C . 246 PASS DP=10
|
|
19
|
+
2 114 . T . 246 PASS DP=10
|
|
20
|
+
2 115 . T . 246 PASS DP=10
|
|
21
|
+
2 116 . T . 246 PASS DP=10
|
|
22
|
+
2 117 . T A 246 PASS DP=10
|
|
23
|
+
2 118 . T C 246 PASS DP=10
|
|
24
|
+
2 119 . TAAA T 246 PASS DP=10
|
|
25
|
+
2 124 . TA T 246 PASS DP=10
|
|
26
|
+
2 128 . T TA 246 PASS DP=10
|
|
27
|
+
2 130 . C A 246 PASS DP=10
|
|
28
|
+
2 131 . T A 246 PASS DP=10
|
|
29
|
+
2 132 . T A 246 PASS DP=10
|
|
30
|
+
2 133 . T A 246 PASS DP=10
|
|
31
|
+
2 134 . T A 246 PASS DP=10
|
|
32
|
+
2 135 . T C 246 PASS DP=10
|
|
33
|
+
2 136 . TT T 246 PASS DP=10
|
|
34
|
+
17 12412 . CAGAGAGAGA CAGAGAGAGAGA 74.8 . INDEL;DP=5388;AF1=0.006576;CI95=0.005525,0.01105;DP4=2077,2367,21,22;MQ=47;FQ=74.8;PV4=0.88,1,0.34,0.021
|
|
35
|
+
17 12427 . G A 999 . DP=5557;AF1=0.06028;CI95=0.04972,0.07182;DP4=2461,2689,106,74;MQ=47;FQ=999;PV4=0.0038,1,2.6e-12,1
|
|
36
|
+
17 69284 . G A 14.6 . DP=3946;AF1=0.003468;CI95=0.002762,0.008287;DP4=1529,2177,7,9;MQ=44;FQ=14.6;PV4=1,0.035,0.098,1
|
|
37
|
+
17 69293 . GTTTCATTTC GTTTCTTTTCATTTC 999 . INDEL;DP=3568;AF1=0.1295;CI95=0.1077,0.1547;DP4=1014,1238,118,121;MQ=44;FQ=999;PV4=0.22,1,9.4e-54,1
|
|
@@ -0,0 +1,23 @@
|
|
|
1
|
+
##fileformat=VCFv4.0
|
|
2
|
+
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
|
|
3
|
+
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
|
|
4
|
+
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth">
|
|
5
|
+
##FILTER=<ID=q10,Description="Quality below 10">
|
|
6
|
+
##INFO=<ID=HM2,Number=0,Type=Flag,Description="HapMap2 membership">
|
|
7
|
+
##INFO=<ID=GN,Number=1,Type=String,Description="Gene Name">
|
|
8
|
+
##INFO=<ID=DP,Number=0,Type=Integer,Description="Depth,etc">
|
|
9
|
+
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT A
|
|
10
|
+
1 100 . GTTT G 1806 q10 DP=5;GN=gene1;HM2 GT:GQ:DP 0/1:409:35
|
|
11
|
+
1 110 . CAAA C 1792 PASS DP=6 GT:GQ:DP 0/1:245:32
|
|
12
|
+
1 120 . GA G 628 q10 DP=21 GT:GQ:DP 1/1:21:21
|
|
13
|
+
1 130 . GAA G 1016 PASS DP=7;HM2 GT:GQ:DP 0/1:212:22
|
|
14
|
+
1 140 . GT G 727 PASS DP=8 GT:GQ:DP 0/1:150:30
|
|
15
|
+
1 150 . TAAAA TA,T 246 PASS DP=9 GT:GQ:DP 1/2:12:10
|
|
16
|
+
1 160 . TAAAA TA,T 246 PASS DP=10 GT:GQ:DP 1/2:12:10
|
|
17
|
+
2 100 . GTTT G 1806 q10 DP=35 GT:GQ:DP 0/1:409:35
|
|
18
|
+
2 110 . CAAA C 1792 PASS GN=gene2;HM2 GT:GQ:DP 0/1:245:32
|
|
19
|
+
2 120 . GA G 628 q10 GN=gene2;HM2 GT:GQ:DP 1/1:21:21
|
|
20
|
+
2 130 . GAA G 1016 PASS GN=gene2;HM2 GT:GQ:DP 0/1:212:22
|
|
21
|
+
2 140 . GT G 727 PASS GN=gene2;HM2 GT:GQ:DP 0/1:150:30
|
|
22
|
+
2 150 . TAAAA TA,T 246 PASS GN=gene2;HM2 GT:GQ:DP 1/2:12:10
|
|
23
|
+
2 160 . TAAAA TA,TC,T 246 PASS DP=11;GN=gene3 GT:GQ:DP 0/2:12:10
|
|
@@ -0,0 +1,52 @@
|
|
|
1
|
+
##fileformat=VCFv4.0
|
|
2
|
+
##INFO=<ID=DP,Number=1,Type=Integer,Description="Total Depth">
|
|
3
|
+
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
|
|
4
|
+
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
|
|
5
|
+
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth">
|
|
6
|
+
##FILTER=<ID=q10,Description="Quality below 10">
|
|
7
|
+
##FILTER=<ID=SnpCluster,Description="Filters clusters of 'INT1' or more SNPs within a run of 'INT2' bases [win=3,count=2]">
|
|
8
|
+
##FILTER=<ID=StrandBias,Description="Min P-value for strand bias (INFO/PV4) [0.0001]">
|
|
9
|
+
##FILTER=<ID=EndDistBias,Description="Min P-value for end distance bias (INFO/PV4) [0.0001]">
|
|
10
|
+
##FILTER=<ID=MaxDP,Description="Maximum read depth (INFO/DP or INFO/DP4) [34]">
|
|
11
|
+
##FILTER=<ID=BaseQualBias,Description="Min P-value for baseQ bias (INFO/PV4) [0]">
|
|
12
|
+
##FILTER=<ID=MinMQ,Description="Minimum RMS mapping quality for SNPs (INFO/MQ) [10]">
|
|
13
|
+
##FILTER=<ID=Qual,Description="Minimum value of the QUAL field [10]">
|
|
14
|
+
##FILTER=<ID=MinAB,Description="Minimum number of alternate bases (INFO/DP4) [2]">
|
|
15
|
+
##FILTER=<ID=VDB,Description="Minimum Variant Distance Bias (INFO/VDB) [0.015]">
|
|
16
|
+
##FILTER=<ID=GapWin,Description="Window size for filtering adjacent gaps [3]">
|
|
17
|
+
##FILTER=<ID=MapQualBias,Description="Min P-value for mapQ bias (INFO/PV4) [0]">
|
|
18
|
+
##FILTER=<ID=SnpGap,Description="SNP within INT bp around a gap to be filtered [10]">
|
|
19
|
+
##FILTER=<ID=MinDP,Description="Minimum read depth (INFO/DP or INFO/DP4) [2]">
|
|
20
|
+
##FILTER=<ID=RefN,Description="Reference base is N []">
|
|
21
|
+
##FILTER=<ID=HWE,Description="Minimum P-value for HWE (plus F<0) (INFO/HWE and INFO/G3) [0.0001]">
|
|
22
|
+
#CHROM POS ID REF ALT QUAL FILTER INFO
|
|
23
|
+
1 100 . GTTT G 1806 q10;MaxDP DP=35
|
|
24
|
+
1 104 . C . 1792 PASS DP=32
|
|
25
|
+
1 105 . C T 246 SnpGap;SnpCluster DP=10
|
|
26
|
+
1 106 . C A 246 SnpGap;SnpCluster DP=10
|
|
27
|
+
2 107 . C . 1806 q10;MaxDP DP=35
|
|
28
|
+
2 108 . C . 1792 PASS DP=32
|
|
29
|
+
2 109 . C . 628 q10 DP=21
|
|
30
|
+
2 110 . C G 1016 SnpGap;SnpCluster DP=22
|
|
31
|
+
2 111 . C G 727 SnpGap;SnpCluster DP=30
|
|
32
|
+
2 112 . C G 246 SnpGap;SnpCluster DP=10
|
|
33
|
+
2 113 . C . 246 PASS DP=10
|
|
34
|
+
2 114 . T . 246 PASS DP=10
|
|
35
|
+
2 115 . T . 246 PASS DP=10
|
|
36
|
+
2 116 . T . 246 PASS DP=10
|
|
37
|
+
2 117 . T A 246 SnpGap;SnpCluster DP=10
|
|
38
|
+
2 118 . T C 246 SnpGap;SnpCluster DP=10
|
|
39
|
+
2 119 . TAAA T 246 GapWin;SnpCluster DP=10
|
|
40
|
+
2 124 . TA T 246 GapWin DP=10
|
|
41
|
+
2 128 . T TA 246 SnpCluster DP=10
|
|
42
|
+
2 130 . C A 246 SnpGap;SnpCluster DP=10
|
|
43
|
+
2 131 . T A 246 SnpGap;SnpCluster DP=10
|
|
44
|
+
2 132 . T A 246 SnpGap;SnpCluster DP=10
|
|
45
|
+
2 133 . T A 246 SnpGap;SnpCluster DP=10
|
|
46
|
+
2 134 . T A 246 SnpGap;SnpCluster DP=10
|
|
47
|
+
2 135 . T C 246 SnpGap;SnpCluster DP=10
|
|
48
|
+
2 136 . TT T 246 SnpCluster DP=10
|
|
49
|
+
17 12412 . CAGAGAGAGA CAGAGAGAGAGA 74.8 MaxDP INDEL;DP=5388;AF1=0.006576;CI95=0.005525,0.01105;DP4=2077,2367,21,22;MQ=47;FQ=74.8;PV4=0.88,1,0.34,0.021
|
|
50
|
+
17 12427 . G A 999 MaxDP;SnpGap DP=5557;AF1=0.06028;CI95=0.04972,0.07182;DP4=2461,2689,106,74;MQ=47;FQ=999;PV4=0.0038,1,2.6e-12,1
|
|
51
|
+
17 69284 . G A 14.6 MaxDP;SnpGap DP=3946;AF1=0.003468;CI95=0.002762,0.008287;DP4=1529,2177,7,9;MQ=44;FQ=14.6;PV4=1,0.035,0.098,1
|
|
52
|
+
17 69293 . GTTTCATTTC GTTTCTTTTCATTTC 999 MaxDP INDEL;DP=3568;AF1=0.1295;CI95=0.1077,0.1547;DP4=1014,1238,118,121;MQ=44;FQ=999;PV4=0.22,1,9.4e-54,1
|
|
@@ -0,0 +1,23 @@
|
|
|
1
|
+
##fileformat=VCFv4.0
|
|
2
|
+
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
|
|
3
|
+
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
|
|
4
|
+
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth">
|
|
5
|
+
##FILTER=<ID=q10,Description="Quality below 10">
|
|
6
|
+
##INFO=<ID=HM2,Number=0,Type=Flag,Description="HapMap2 membership">
|
|
7
|
+
##INFO=<ID=GN,Number=1,Type=String,Description="Gene Name">
|
|
8
|
+
##INFO=<ID=DP,Number=0,Type=Integer,Description="Depth,etc">
|
|
9
|
+
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT A
|
|
10
|
+
1 100 id1_100 GTTT G 1806 q10 DP=5;GN=gene1;HM2 GT:GQ:DP 0/1:409:35
|
|
11
|
+
1 110 id1_110 CAAA C 1792 PASS DP=6 GT:GQ:DP 0/1:245:32
|
|
12
|
+
1 120 . GA G 628 q10 DP=21 GT:GQ:DP 1/1:21:21
|
|
13
|
+
1 130 . GAA G 1016 PASS DP=22 GT:GQ:DP 0/1:212:22
|
|
14
|
+
1 140 id1_140 GT G 727 PASS DP=8 GT:GQ:DP 0/1:150:30
|
|
15
|
+
1 150 id1_150 TAAAA TA,T 246 PASS DP=9 GT:GQ:DP 1/2:12:10
|
|
16
|
+
1 160 . TAAAA TA,T 246 PASS DP=10 GT:GQ:DP 1/2:12:10
|
|
17
|
+
2 100 . GTTT G 1806 q10 DP=35 GT:GQ:DP 0/1:409:35
|
|
18
|
+
2 110 id2_110_150 CAAA C 1792 PASS GN=gene2;HM2 GT:GQ:DP 0/1:245:32
|
|
19
|
+
2 120 . GA G 628 q10 DP=21 GT:GQ:DP 1/1:21:21
|
|
20
|
+
2 130 . GAA G 1016 PASS DP=22 GT:GQ:DP 0/1:212:22
|
|
21
|
+
2 140 . GT G 727 PASS DP=30 GT:GQ:DP 0/1:150:30
|
|
22
|
+
2 150 . TAAAA TA,T 246 PASS DP=10 GT:GQ:DP 1/2:12:10
|
|
23
|
+
2 160 id2_160 TAAAA TA,TC,T 246 PASS DP=11;GN=gene3 GT:GQ:DP 0/2:12:10
|
|
@@ -0,0 +1,12 @@
|
|
|
1
|
+
##fileformat=VCFv3.3
|
|
2
|
+
##INFO=DP,1,Integer,"Total Depth"
|
|
3
|
+
##FORMAT=GT,1,String,"Genotype"
|
|
4
|
+
##FORMAT=GQ,1,Integer,"Genotype Quality"
|
|
5
|
+
##FORMAT=DP,1,Integer,"Read Depth"
|
|
6
|
+
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT A B
|
|
7
|
+
1 100100 . G C 0 . DP=1 GT:GQ:DP 0|1:40:1 0/1:40:1
|
|
8
|
+
1 100200 . G C 0 . DP=1 GT:GQ:DP 0|1:40:1 0/0:40:1
|
|
9
|
+
1 100300 . G C 0 . DP=1 GT:GQ:DP 1/1:40:1 ./.:40:1
|
|
10
|
+
1 100400 . C G,T 35 . DP=1 GT:GQ:DP 1/1:41:1 0/2:40:1
|
|
11
|
+
1 100500 . A G 0 . DP=1 GT:GQ:DP 1/1:40:1 0/0:40:1
|
|
12
|
+
1 100600 . C G 0 . DP=1 GT:GQ:DP 1/1:40:1 0/0:40:1
|
|
@@ -0,0 +1,12 @@
|
|
|
1
|
+
##fileformat=VCFv4.0
|
|
2
|
+
##INFO=<ID=DP,Number=1,Type=Integer,Description="Total Depth">
|
|
3
|
+
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
|
|
4
|
+
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
|
|
5
|
+
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth">
|
|
6
|
+
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT A B
|
|
7
|
+
1 100100 . G C 0 . DP=1 GT:GQ:DP 0|1:40:1 0/1:40:1
|
|
8
|
+
1 100200 . G C 0 . DP=1 GT:GQ:DP 0|1:40:1 0/0:40:1
|
|
9
|
+
1 100300 . G C 0 . DP=1 GT:GQ:DP 1/1:40:1 ./.:40:1
|
|
10
|
+
1 100400 . C G,T 35 . DP=1 GT:GQ:DP 1/1:41:1 0/2:40:1
|
|
11
|
+
1 100500 . A G 0 . DP=1 GT:GQ:DP 1/1:40:1 0/0:40:1
|
|
12
|
+
1 100600 . C G 0 . DP=1 GT:GQ:DP 1/1:40:1 0/0:40:1
|
|
@@ -0,0 +1,12 @@
|
|
|
1
|
+
##fileformat=VCFv3.3
|
|
2
|
+
##INFO=DP,1,Integer,"Total Depth"
|
|
3
|
+
##FORMAT=GT,1,String,"Genotype"
|
|
4
|
+
##FORMAT=GQ,1,Integer,"Genotype Quality"
|
|
5
|
+
##FORMAT=DP,1,Integer,"Read Depth"
|
|
6
|
+
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT A B
|
|
7
|
+
1 100100 . G C 0 . DP=1 GT:GQ:DP 0|1:40:1 1/0:40:1
|
|
8
|
+
1 100200 . G C 0 . DP=1 GT:GQ:DP 1|0:40:1 0/0:40:1
|
|
9
|
+
1 100300 . G C 0 . DP=1 GT:GQ:DP 1/1:40:1 0/0:40:1
|
|
10
|
+
1 100400 . C G 35 . DP=1 GT:GQ:DP 1/1:41:1 0/0:40:1
|
|
11
|
+
1 100500 . A G 0 . DP=1 GT:GQ:DP 1/1:40:1 0/0:40:1
|
|
12
|
+
1 100600 . C G 0 . DP=1 GT:GQ:DP 1/1:40:1 0/0:40:1
|
|
@@ -0,0 +1,12 @@
|
|
|
1
|
+
##fileformat=VCFv4.0
|
|
2
|
+
##INFO=<ID=DP,Number=1,Type=Integer,Description="Total Depth">
|
|
3
|
+
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
|
|
4
|
+
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
|
|
5
|
+
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth">
|
|
6
|
+
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT A B
|
|
7
|
+
1 100100 . G C 0 . DP=1 GT:GQ:DP 0|1:40:1 1/0:40:1
|
|
8
|
+
1 100200 . G C 0 . DP=1 GT:GQ:DP 1|0:40:1 0/0:40:1
|
|
9
|
+
1 100300 . G C 0 . DP=1 GT:GQ:DP 1/1:40:1 0/0:40:1
|
|
10
|
+
1 100400 . C G 35 . DP=1 GT:GQ:DP 1/1:41:1 0/0:40:1
|
|
11
|
+
1 100500 . A G 0 . DP=1 GT:GQ:DP 1/1:40:1 0/0:40:1
|
|
12
|
+
1 100600 . C G 0 . DP=1 GT:GQ:DP 1/1:40:1 0/0:40:1
|
|
@@ -0,0 +1,53 @@
|
|
|
1
|
+
# This file was generated by vcf-compare.
|
|
2
|
+
#
|
|
3
|
+
#VN 'Venn-Diagram Numbers'. Use `grep ^VN | cut -f 2-` to extract this part.
|
|
4
|
+
#VN The columns are:
|
|
5
|
+
#VN 1 .. number of sites unique to this particular combination of files
|
|
6
|
+
#VN 2- .. combination of files and space-separated number, a fraction of sites in the file
|
|
7
|
+
VN 6 cmp-test-a.vcf.gz (100.0%) cmp-test-b.vcf.gz (100.0%)
|
|
8
|
+
#SN Summary Numbers. Use `grep ^SN | cut -f 2-` to extract this part.
|
|
9
|
+
SN Number of REF matches: 6
|
|
10
|
+
SN Number of ALT matches: 5
|
|
11
|
+
SN Number of REF mismatches: 0
|
|
12
|
+
SN Number of ALT mismatches: 1
|
|
13
|
+
SN Number of samples in GT comparison: 2
|
|
14
|
+
#GS Genotype Comparison Summary. Use `grep ^GS | cut -f 2-` to extract this part.
|
|
15
|
+
#GS The columns are:
|
|
16
|
+
#GS 1 .. variant type
|
|
17
|
+
#GS 2 .. number of mismatches
|
|
18
|
+
#GS 3 .. number of matches
|
|
19
|
+
#GS 4 .. discordance
|
|
20
|
+
GS hom_RR 0 3 0.00%
|
|
21
|
+
GS het_RA 1 3 25.00%
|
|
22
|
+
GS hom_AA 0 4 0.00%
|
|
23
|
+
GS het_AA 0 0 0.00%
|
|
24
|
+
SN Non-reference Discordance Rate (NDR): 12.50
|
|
25
|
+
|
|
26
|
+
#GC Genotype Comparison. Use `grep ^GC | cut -f 2-` to extract this part.
|
|
27
|
+
#GC The columns are:
|
|
28
|
+
#GC 1 .. Sample
|
|
29
|
+
#GC 2-6 .. Gtype mismatches: total hom_RR hom_AA het_RA het_AA
|
|
30
|
+
#GC 7-9 .. Gtype lost: total het_RA het_AA
|
|
31
|
+
#GC 10-14 .. Gtype gained: total hom_RR hom_AA het_RA het_AA
|
|
32
|
+
#GC 15-17 .. Phase lost: total het_RA het_AA
|
|
33
|
+
#GC 18 .. Phase gained
|
|
34
|
+
#GC 19-23 .. Matching sites: total hom_RR hom_AA het_RA het_AA
|
|
35
|
+
#GC 24-26 .. Phased matches: total het_RA het_AA
|
|
36
|
+
#GC 27-29 .. Misphased matches: total het_RA het_AA
|
|
37
|
+
GC A 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 6 0 4 2 0 1 1 0 0 0 0
|
|
38
|
+
GC B 1 0 0 1 0 0 0 0 1 1 0 0 0 0 0 0 0 4 3 0 1 0 0 0 0 0 0 0
|
|
39
|
+
#FC Genotype Concordance vs non-ref allele frequency. Use `^FC | cut -f 2-` to extract this part.
|
|
40
|
+
#FC The columns are:
|
|
41
|
+
#FC 1 .. Non-ref allele count
|
|
42
|
+
#FC 2 .. Hom(RR) concordance
|
|
43
|
+
#FC 3 .. Het(RA) concordance
|
|
44
|
+
#FC 4 .. Hom(AA) concordance
|
|
45
|
+
#FC 5 .. Het(AA) concordance
|
|
46
|
+
#FC 6 .. Number of Hom(RR) gtypes
|
|
47
|
+
#FC 7 .. Number of Het(RA) gtypes
|
|
48
|
+
#FC 8 .. Number of Hom(AA) gtypes
|
|
49
|
+
#FC 9 .. Number of Het(AA) gtypes
|
|
50
|
+
FC 0.25 1.000 1.000 -1.000 -1.000 1 1 0 0
|
|
51
|
+
FC 0.50 1.000 1.000 1.000 -1.000 2 2 2 0
|
|
52
|
+
FC 0.75 -1.000 0.000 1.000 -1.000 0 1 1 0
|
|
53
|
+
FC 1.00 -1.000 -1.000 1.000 -1.000 0 0 1 0
|
|
@@ -0,0 +1,21 @@
|
|
|
1
|
+
##fileformat=VCFv4.0
|
|
2
|
+
##INFO=<ID=DP,Number=1,Type=Integer,Description="Total Depth">
|
|
3
|
+
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
|
|
4
|
+
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
|
|
5
|
+
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth">
|
|
6
|
+
##FILTER=<ID=q10,Description="Quality below 10">
|
|
7
|
+
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT A
|
|
8
|
+
1 100 . GTTT G 1806 q10 DP=35 GT:GQ:DP 0/1:409:35
|
|
9
|
+
1 110 . CAAA C 1792 PASS DP=32 GT:GQ:DP 0/1:245:32
|
|
10
|
+
1 120 . GA G 628 q10 DP=21 GT:GQ:DP 1/1:21:21
|
|
11
|
+
1 130 . GAA G 1016 PASS DP=22 GT:GQ:DP 0/1:212:22
|
|
12
|
+
1 140 . GT G 727 PASS DP=30 GT:GQ:DP 0/1:150:30
|
|
13
|
+
1 150 . TAAAA TA,T 246 PASS DP=10 GT:GQ:DP 1/2:12:10
|
|
14
|
+
1 160 . TAAAA TA,T 246 PASS DP=10 GT:GQ:DP 1/2:12:10
|
|
15
|
+
2 100 . GTTT G 1806 q10 DP=35 GT:GQ:DP 0/1:409:35
|
|
16
|
+
2 110 . CAAA C 1792 PASS DP=32 GT:GQ:DP 0/1:245:32
|
|
17
|
+
2 120 . GA G 628 q10 DP=21 GT:GQ:DP 1/1:21:21
|
|
18
|
+
2 130 . GAA G 1016 PASS DP=22 GT:GQ:DP 0/1:212:22
|
|
19
|
+
2 140 . GT G 727 PASS DP=30 GT:GQ:DP 0/1:150:30
|
|
20
|
+
2 150 . TAAAA TA,T 246 PASS DP=10 GT:GQ:DP 1/2:12:10
|
|
21
|
+
2 160 . TAAAA TA,TC,T 246 PASS DP=10 GT:GQ:DP 0/2:12:10
|
|
@@ -0,0 +1,13 @@
|
|
|
1
|
+
##fileformat=VCFv4.0
|
|
2
|
+
##INFO=<ID=DP,Number=1,Type=Integer,Description="Total Depth">
|
|
3
|
+
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
|
|
4
|
+
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
|
|
5
|
+
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth">
|
|
6
|
+
##FILTER=<ID=q10,Description="Quality below 10">
|
|
7
|
+
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT A
|
|
8
|
+
1 141 . GTTT G 1806 q10 DP=35 GT:GQ:DP 0/1:409:35
|
|
9
|
+
1 151 . CAAA C 1792 PASS DP=32 GT:GQ:DP 0/1:245:32
|
|
10
|
+
1 161 . GA G 628 q10 DP=21 GT:GQ:DP 1/1:21:21
|
|
11
|
+
1 171 . GAA G 1016 PASS DP=22 GT:GQ:DP 0/1:212:22
|
|
12
|
+
1 181 . GT G 727 PASS DP=30 GT:GQ:DP 0/1:150:30
|
|
13
|
+
1 191 . TAAAA TA,T 246 PASS DP=10 GT:GQ:DP 1/2:12:10
|
|
@@ -0,0 +1,19 @@
|
|
|
1
|
+
##fileformat=VCFv4.0
|
|
2
|
+
##INFO=<ID=DP,Number=1,Type=Integer,Description="Total Depth">
|
|
3
|
+
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
|
|
4
|
+
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
|
|
5
|
+
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth">
|
|
6
|
+
##FILTER=<ID=q10,Description="Quality below 10">
|
|
7
|
+
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT A
|
|
8
|
+
2 142 . GTTT G 1806 q10 DP=35 GT:GQ:DP 0/1:409:35
|
|
9
|
+
2 152 . CAAA C 1792 PASS DP=32 GT:GQ:DP 0/1:245:32
|
|
10
|
+
2 162 . GA G 628 q10 DP=21 GT:GQ:DP 1/1:21:21
|
|
11
|
+
2 172 . GAA G 1016 PASS DP=22 GT:GQ:DP 0/1:212:22
|
|
12
|
+
2 182 . GT G 727 PASS DP=30 GT:GQ:DP 0/1:150:30
|
|
13
|
+
2 192 . TAAAA TA,T 246 PASS DP=10 GT:GQ:DP 1/2:12:10
|
|
14
|
+
1 142 . GTTT G 1806 q10 DP=35 GT:GQ:DP 0/1:409:35
|
|
15
|
+
1 152 . CAAA C 1792 PASS DP=32 GT:GQ:DP 0/1:245:32
|
|
16
|
+
1 162 . GA G 628 q10 DP=21 GT:GQ:DP 1/1:21:21
|
|
17
|
+
1 172 . GAA G 1016 PASS DP=22 GT:GQ:DP 0/1:212:22
|
|
18
|
+
1 182 . GT G 727 PASS DP=30 GT:GQ:DP 0/1:150:30
|
|
19
|
+
1 192 . TAAAA TA,T 246 PASS DP=10 GT:GQ:DP 1/2:12:10
|
|
@@ -0,0 +1,39 @@
|
|
|
1
|
+
##fileformat=VCFv4.0
|
|
2
|
+
##INFO=<ID=DP,Number=1,Type=Integer,Description="Total Depth">
|
|
3
|
+
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
|
|
4
|
+
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
|
|
5
|
+
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth">
|
|
6
|
+
##FILTER=<ID=q10,Description="Quality below 10">
|
|
7
|
+
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT A
|
|
8
|
+
1 100 . GTTT G 1806 q10 DP=35 GT:GQ:DP 0/1:409:35
|
|
9
|
+
1 110 . CAAA C 1792 PASS DP=32 GT:GQ:DP 0/1:245:32
|
|
10
|
+
1 120 . GA G 628 q10 DP=21 GT:GQ:DP 1/1:21:21
|
|
11
|
+
1 130 . GAA G 1016 PASS DP=22 GT:GQ:DP 0/1:212:22
|
|
12
|
+
1 140 . GT G 727 PASS DP=30 GT:GQ:DP 0/1:150:30
|
|
13
|
+
1 141 . GTTT G 1806 q10 DP=35 GT:GQ:DP 0/1:409:35
|
|
14
|
+
1 142 . GTTT G 1806 q10 DP=35 GT:GQ:DP 0/1:409:35
|
|
15
|
+
1 150 . TAAAA TA,T 246 PASS DP=10 GT:GQ:DP 1/2:12:10
|
|
16
|
+
1 151 . CAAA C 1792 PASS DP=32 GT:GQ:DP 0/1:245:32
|
|
17
|
+
1 152 . CAAA C 1792 PASS DP=32 GT:GQ:DP 0/1:245:32
|
|
18
|
+
1 160 . TAAAA TA,T 246 PASS DP=10 GT:GQ:DP 1/2:12:10
|
|
19
|
+
1 161 . GA G 628 q10 DP=21 GT:GQ:DP 1/1:21:21
|
|
20
|
+
1 162 . GA G 628 q10 DP=21 GT:GQ:DP 1/1:21:21
|
|
21
|
+
1 171 . GAA G 1016 PASS DP=22 GT:GQ:DP 0/1:212:22
|
|
22
|
+
1 172 . GAA G 1016 PASS DP=22 GT:GQ:DP 0/1:212:22
|
|
23
|
+
1 181 . GT G 727 PASS DP=30 GT:GQ:DP 0/1:150:30
|
|
24
|
+
1 182 . GT G 727 PASS DP=30 GT:GQ:DP 0/1:150:30
|
|
25
|
+
1 191 . TAAAA TA,T 246 PASS DP=10 GT:GQ:DP 1/2:12:10
|
|
26
|
+
1 192 . TAAAA TA,T 246 PASS DP=10 GT:GQ:DP 1/2:12:10
|
|
27
|
+
2 100 . GTTT G 1806 q10 DP=35 GT:GQ:DP 0/1:409:35
|
|
28
|
+
2 110 . CAAA C 1792 PASS DP=32 GT:GQ:DP 0/1:245:32
|
|
29
|
+
2 120 . GA G 628 q10 DP=21 GT:GQ:DP 1/1:21:21
|
|
30
|
+
2 130 . GAA G 1016 PASS DP=22 GT:GQ:DP 0/1:212:22
|
|
31
|
+
2 140 . GT G 727 PASS DP=30 GT:GQ:DP 0/1:150:30
|
|
32
|
+
2 142 . GTTT G 1806 q10 DP=35 GT:GQ:DP 0/1:409:35
|
|
33
|
+
2 150 . TAAAA TA,T 246 PASS DP=10 GT:GQ:DP 1/2:12:10
|
|
34
|
+
2 152 . CAAA C 1792 PASS DP=32 GT:GQ:DP 0/1:245:32
|
|
35
|
+
2 160 . TAAAA TA,TC,T 246 PASS DP=10 GT:GQ:DP 0/2:12:10
|
|
36
|
+
2 162 . GA G 628 q10 DP=21 GT:GQ:DP 1/1:21:21
|
|
37
|
+
2 172 . GAA G 1016 PASS DP=22 GT:GQ:DP 0/1:212:22
|
|
38
|
+
2 182 . GT G 727 PASS DP=30 GT:GQ:DP 0/1:150:30
|
|
39
|
+
2 192 . TAAAA TA,T 246 PASS DP=10 GT:GQ:DP 1/2:12:10
|
|
@@ -0,0 +1,31 @@
|
|
|
1
|
+
##fileformat=VCFv4.0
|
|
2
|
+
##problem1=The first base of the second ALT allele at 20:1234567 does not match the reference.
|
|
3
|
+
##fileDate=20090805
|
|
4
|
+
##source=myImputationProgramV3.1
|
|
5
|
+
##reference=1000GenomesPilot-NCBI36
|
|
6
|
+
##phasing=partial
|
|
7
|
+
##INFO=<ID=NS,Number=1,Type=Integer,Description="Number of Samples With Data">
|
|
8
|
+
##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes">
|
|
9
|
+
##INFO=<ID=AC,Number=-1,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed">
|
|
10
|
+
##INFO=<ID=DP,Number=1,Type=Integer,Description="Total Depth">
|
|
11
|
+
##INFO=<ID=AF,Number=-1,Type=Float,Description="Allele Frequency">
|
|
12
|
+
##INFO=<ID=AA,Number=1,Type=String,Description="Ancestral Allele">
|
|
13
|
+
##INFO=<ID=DB,Number=0,Type=Flag,Description="dbSNP membership, build 129">
|
|
14
|
+
##INFO=<ID=H2,Number=0,Type=Flag,Description="HapMap2 membership">
|
|
15
|
+
##FILTER=<ID=q10,Description="Quality below 10">
|
|
16
|
+
##FILTER=<ID=s50,Description="Less than 50% of samples have data">
|
|
17
|
+
##FORMAT=<ID=GT,Number=1,Type=String,Description=Genotype>
|
|
18
|
+
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
|
|
19
|
+
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth">
|
|
20
|
+
##FORMAT=<ID=HQ,Number=2,Type=Integer,Description="Haplotype Quality">
|
|
21
|
+
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA00001 NA00002 NA00003
|
|
22
|
+
19 111 . A C 9.6 . . GT:HQ 0|0:10,10 0|0:10,10 0\1:3,3
|
|
23
|
+
19 112 . A G 10 . . GT:HQ 0|0:10,10 0|0:10,10 0\1:3,3
|
|
24
|
+
20 14370 rs6054257 G A 29 0 NS=3;DP=14;AF=0.5;DB;H2 GT:GQ:DP:HQ 0|0:48:1:51,51 1|0:48:8:51,51 1/1:43:5:-1,-1
|
|
25
|
+
20 17330 . T A 3 q10 NS=3;DP=11;AF=0.017 GT:GQ:DP:HQ 0|0:49:3:58,50 0|1:3:5:65,3 0/0:41:3:-1,-1
|
|
26
|
+
20 1110696 rs6040355 A G,T 67 0 NS=2;DP=10;AF=0.333,0.667;AA=T;DB GT:GQ:DP:HQ 1|2:21:6:23,27 2|1:2:0:18,2 2/2:35:4:-1,-1
|
|
27
|
+
20 1230237 . T . 47 0 NS=3;DP=13;AA=T GT:GQ:DP:HQ 0|0:54:-1:56,60 0|0:48:4:51,51 0/0:61:2:-1,-1
|
|
28
|
+
20 1234567 microsat1 G GA,AAC 50 0 NS=3;DP=9;AA=G;AN=6;AC=3,1 GT:GQ:DP 0/1:-1:4 0/2:17:2 1/1:40:3
|
|
29
|
+
20 1235237 . T . -1 . . GT 0\0 0|0 ./.
|
|
30
|
+
X 10 rsTest AC A,ATG 10 . . GT 0 0/1 0|2
|
|
31
|
+
X 11 rsTest2 T A,G 10 q10;s50 . GT:DP:GQ 0:3:10 .:5:20 0:3:10
|
|
@@ -0,0 +1,19 @@
|
|
|
1
|
+
Warning: The column names do not match (e.g. B):
|
|
2
|
+
B
|
|
3
|
+
A
|
|
4
|
+
##fileformat=VCFv4.0
|
|
5
|
+
##FILTER=<ID=q10,Description="Quality below 10">
|
|
6
|
+
##FORMAT=<ID=GL,Number=G,Type=Float,Description="Genotype Likelihood">
|
|
7
|
+
##FILTER=<ID=q20,Description="Mapping quality below 20">
|
|
8
|
+
##INFO=<ID=DP,Number=1,Type=Integer,Description="Total Depth">
|
|
9
|
+
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
|
|
10
|
+
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
|
|
11
|
+
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth">
|
|
12
|
+
##INFO=<ID=SF,Number=.,Type=String,Description="Source File (index to sourceFiles, f when filtered)">
|
|
13
|
+
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT A
|
|
14
|
+
1 3062915 . GTTT G 1806 q10 DP=35;SF=0f,1f,2 GT:GQ:DP:GL 0/1:409:35:-20,-5,-20
|
|
15
|
+
1 3106154 . CAAA C 1792 PASS DP=32;SF=0,1,2 GT:GQ:DP 0/1:245:32
|
|
16
|
+
1 3157410 . GA G 628 q10 DP=21;SF=0f,1,2 GT:GQ:DP 1/1:21:21
|
|
17
|
+
1 3162006 . GAA G 1016 PASS DP=22;SF=0,1,2 GT:GQ:DP 0/1:212:22
|
|
18
|
+
1 3177144 . GT G 727 PASS DP=30;SF=0,1,2 GT:GQ:DP 0/1:150:30
|
|
19
|
+
1 3184885 . TAAAA TA,T 246 PASS DP=10;SF=0,1 GT:GQ:DP 1/2:12:10
|
|
@@ -0,0 +1,17 @@
|
|
|
1
|
+
##fileformat=VCFv4.0
|
|
2
|
+
##INFO=<ID=DP,Number=1,Type=Integer,Description="Total Depth">
|
|
3
|
+
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
|
|
4
|
+
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
|
|
5
|
+
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth">
|
|
6
|
+
##FORMAT=<ID=GL,Number=G,Type=Float,Description="Genotype Likelihood">
|
|
7
|
+
##FILTER=<ID=q10,Description="Quality below 10">
|
|
8
|
+
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT A
|
|
9
|
+
1 3062915 . GTTT G 1806 q10 DP=35 GT:GQ:DP:GL 0/1:409:35:-20,-5,-20
|
|
10
|
+
1 3106154 . CAAA C 1792 PASS DP=32 GT:GQ:DP 0/1:245:32
|
|
11
|
+
1 3157410 . GA G 628 q10 DP=21 GT:GQ:DP 1/1:21:21
|
|
12
|
+
1 3162006 . GAA G 1016 PASS DP=22 GT:GQ:DP 0/1:212:22
|
|
13
|
+
1 3177144 . GT G 727 PASS DP=30 GT:GQ:DP 0/1:150:30
|
|
14
|
+
1 3184885 . TAAAA TA,T 246 PASS DP=10 GT:GQ:DP 1/2:12:10
|
|
15
|
+
2 3199812 . G GTT,GT 481 PASS DP=26 GT:GQ:DP 1/2:322:26
|
|
16
|
+
3 3212016 . CTT C,CT 565 PASS DP=26 GT:GQ:DP 1/2:91:26
|
|
17
|
+
4 3258448 . TACACACAC T 325 PASS DP=31 GT:GQ:DP 0/1:325:31
|