/EXTERNAL Roadmap/variants/K012814_1_lane_gembs

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SAMPLE K012814_1_lane_gembs




Variant counts

Type Total Pass %
SNPs 1167973559 832446796 71.27 %
Multiallelic 0 0 0.00 %



VCF Filtering Stats

Type #Sites % #Non-Variant Sites % #Variant Sites %
All 1167973559 100% 1140655936 97.66 % 27317623 2.34 %
Passed 836127997 71.59 % 829839890 72.75 % 6288107 0.75 %
Filtered 331845562 28.41 % 310816046 27.25 % 21029516 2.52 %
q20 283678372 85.49 % 280430927 90.22 % 3247445 15.44 %
q20,qd2 24934078 7.51 % 7791244 2.51 % 17142834 81.52 %
q20,mq40 16076264 4.84 % 15935591 5.13 % 140673 0.67 %
q20,qd2,mq40 3616593 1.09 % 3456413 1.11 % 160180 0.76 %
mq40 2414705 0.73 % 2171880 0.70 % 242825 1.15 %
qd2 1087549 0.33 % 1000393 0.32 % 87156 0.41 %
qd2,mq40 37125 0.01 % 29598 0.01 % 7527 0.04 %
qd2,fs60,mq40 475 0.00 % 0 0.00 % 475 0.00 %
fs60,mq40 214 0.00 % 0 0.00 % 214 0.00 %
qd2,fs60 120 0.00 % 0 0.00 % 120 0.00 %
q20,qd2,fs60,mq40 35 0.00 % 0 0.00 % 35 0.00 %
fs60 24 0.00 % 0 0.00 % 24 0.00 %
q20,qd2,fs60 7 0.00 % 0 0.00 % 7 0.00 %
q20,fs60,mq40 1 0.00 % 0 0.00 % 1 0.00 %
q20,fs60 0 0.00 % 0 0.00 % 0 0.00 %

Coverage and Quality




Coverage Variants Quality Variants
./IMG//K012814_1_lane_gembs_coverage_variants.png ./IMG//K012814_1_lane_gembs_quality_variant.png



Filtering Criteria Distribution




Phred scale strand bias estimated using Fisher's Exact Test.
./IMG//K012814_1_lane_gembs_fs_variant.png



Allele-specific call confidence normalized by depth of sample reads supporting the allele. Variants. Allele-specific call confidence normalized by depth of sample reads supporting the allele. Non-Variants.
./IMG//K012814_1_lane_gembs_qd_variant.png ./IMG//K012814_1_lane_gembs_qd_nonvariant.png



Root Mean Square of the mapping quality of reads. Variants. Root Mean Square of the mapping quality of reads. Non-Variants.
./IMG//K012814_1_lane_gembs_rmsmq_variant.png ./IMG//K012814_1_lane_gembs_rmsmq_nonvariant.png



Mutations

Type Mutation Status # %
Transition A>G All 12261431 42.24 %
Transition G>A All 1532281 5.28 %
Transition T>C All 9242969 31.84 %
Transition C>T All 1758148 6.06 %
Transversion A>C All 273098 0.94 %
Transversion C>A All 813718 2.80 %
Transversion T>G All 396246 1.37 %
Transversion G>T All 722209 2.49 %
Transversion A>T All 643443 2.22 %
Transversion T>A All 746615 2.57 %
Transversion C>G All 364359 1.26 %
Transversion G>C All 274240 0.94 %
Transition A>G Passed 807585 22.93 %
Transition G>A Passed 497984 14.14 %
Transition T>C Passed 603529 17.13 %
Transition C>T Passed 510584 14.50 %
Transversion A>C Passed 137814 3.91 %
Transversion C>A Passed 142235 4.04 %
Transversion T>G Passed 142903 4.06 %
Transversion G>T Passed 143003 4.06 %
Transversion A>T Passed 125836 3.57 %
Transversion T>A Passed 126430 3.59 %
Transversion C>G Passed 143828 4.08 %
Transversion G>C Passed 140528 3.99 %
Transition A>G dbSNPAll 0 0.00 %
Transition G>A dbSNPAll 0 0.00 %
Transition T>C dbSNPAll 0 0.00 %
Transition C>T dbSNPAll 0 0.00 %
Transversion A>C dbSNPAll 0 0.00 %
Transversion C>A dbSNPAll 0 0.00 %
Transversion T>G dbSNPAll 0 0.00 %
Transversion G>T dbSNPAll 0 0.00 %
Transversion A>T dbSNPAll 0 0.00 %
Transversion T>A dbSNPAll 0 0.00 %
Transversion C>G dbSNPAll 0 0.00 %
Transversion G>C dbSNPAll 0 0.00 %
Transition A>G dbSNPPassed 0 0.00 %
Transition G>A dbSNPPassed 0 0.00 %
Transition T>C dbSNPPassed 0 0.00 %
Transition C>T dbSNPPassed 0 0.00 %
Transversion A>C dbSNPPassed 0 0.00 %
Transversion C>A dbSNPPassed 0 0.00 %
Transversion T>G dbSNPPassed 0 0.00 %
Transversion G>T dbSNPPassed 0 0.00 %
Transversion A>T dbSNPPassed 0 0.00 %
Transversion T>A dbSNPPassed 0 0.00 %
Transversion C>G dbSNPPassed 0 0.00 %
Transversion G>C dbSNPPassed 0 0.00 %



Ti/Tv Ratio

Status Ratio Transitions Transversions
All 5.86 24794829 4233928
Passed 2.19 2419682 1102577
dbSNPAll 0 0 0
dbSNPPassed 0 0 0