/CEMT/variants/A50428_A50426_4_lane_gembs

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SAMPLE A50428_A50426_4_lane_gembs




Variant counts

Type Total Pass %
SNPs 1163543087 436457677 37.51 %
Multiallelic 0 0 0.00 %



VCF Filtering Stats

Type #Sites % #Non-Variant Sites % #Variant Sites %
All 1163543087 100% 1128247789 96.97 % 35295298 3.03 %
Passed 442910726 38.07 % 434422766 38.50 % 8487960 1.92 %
Filtered 720632361 61.93 % 693825023 61.50 % 26807338 6.05 %
q20 664873072 92.26 % 657621713 94.78 % 7251359 27.05 %
q20,qd2 39622649 5.50 % 20603375 2.97 % 19019274 70.95 %
q20,mq40 10980234 1.52 % 10768910 1.55 % 211324 0.79 %
q20,qd2,mq40 4040199 0.56 % 3851246 0.56 % 188953 0.70 %
qd2 700355 0.10 % 680382 0.10 % 19973 0.07 %
mq40 393231 0.05 % 281576 0.04 % 111655 0.42 %
qd2,mq40 21955 0.00 % 17821 0.00 % 4134 0.02 %
qd2,fs60,mq40 300 0.00 % 0 0.00 % 300 0.00 %
qd2,fs60 149 0.00 % 0 0.00 % 149 0.00 %
fs60,mq40 135 0.00 % 0 0.00 % 135 0.00 %
fs60 47 0.00 % 0 0.00 % 47 0.00 %
q20,qd2,fs60,mq40 21 0.00 % 0 0.00 % 21 0.00 %
q20,qd2,fs60 13 0.00 % 0 0.00 % 13 0.00 %
q20,fs60 1 0.00 % 0 0.00 % 1 0.00 %
q20,fs60,mq40 0 0.00 % 0 0.00 % 0 0.00 %

Coverage and Quality




Coverage Variants Quality Variants
./IMG//A50428_A50426_4_lane_gembs_coverage_variants.png ./IMG//A50428_A50426_4_lane_gembs_quality_variant.png



Filtering Criteria Distribution




Phred scale strand bias estimated using Fisher's Exact Test.
./IMG//A50428_A50426_4_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//A50428_A50426_4_lane_gembs_qd_variant.png ./IMG//A50428_A50426_4_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//A50428_A50426_4_lane_gembs_rmsmq_variant.png ./IMG//A50428_A50426_4_lane_gembs_rmsmq_nonvariant.png



Mutations

Type Mutation Status # %
Transition A>G All 9071147 24.25 %
Transition G>A All 2167051 5.79 %
Transition T>C All 9081294 24.28 %
Transition C>T All 2175394 5.82 %
Transversion A>C All 845764 2.26 %
Transversion C>A All 2900047 7.75 %
Transversion T>G All 831479 2.22 %
Transversion G>T All 2960556 7.92 %
Transversion A>T All 3236537 8.65 %
Transversion T>A All 3129682 8.37 %
Transversion C>G All 500336 1.34 %
Transversion G>C All 504111 1.35 %
Transition A>G Passed 410624 16.36 %
Transition G>A Passed 365064 14.55 %
Transition T>C Passed 410045 16.34 %
Transition C>T Passed 366379 14.60 %
Transversion A>C Passed 116731 4.65 %
Transversion C>A Passed 133208 5.31 %
Transversion T>G Passed 116316 4.64 %
Transversion G>T Passed 133729 5.33 %
Transversion A>T Passed 125975 5.02 %
Transversion T>A Passed 126055 5.02 %
Transversion C>G Passed 102339 4.08 %
Transversion G>C Passed 102887 4.10 %
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 1.51 22494886 14908512
Passed 1.62 1552112 957240
dbSNPAll 0 0 0
dbSNPPassed 0 0 0