/EXTERNAL Roadmap/variants/K012820_1_lane_gembs

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SAMPLE K012820_1_lane_gembs




Variant counts

Type Total Pass %
SNPs 1157672841 1008353732 87.10 %
Multiallelic 0 0 0.00 %



VCF Filtering Stats

Type #Sites % #Non-Variant Sites % #Variant Sites %
All 1157672841 100% 1138191723 98.32 % 19481118 1.68 %
Passed 1009824166 87.23 % 1005468051 88.34 % 4356115 0.43 %
Filtered 147848675 12.77 % 132723672 11.66 % 15125003 1.50 %
q20 102590738 69.39 % 101237578 76.28 % 1353160 8.95 %
q20,qd2 19908202 13.47 % 7165163 5.40 % 12743039 84.25 %
q20,mq40 14222396 9.62 % 14062380 10.60 % 160016 1.06 %
qd2 3954748 2.67 % 3597418 2.71 % 357330 2.36 %
mq40 3714963 2.51 % 3426768 2.58 % 288195 1.91 %
q20,qd2,mq40 3408599 2.31 % 3196150 2.41 % 212449 1.40 %
qd2,mq40 48025 0.03 % 38215 0.03 % 9810 0.06 %
qd2,fs60,mq40 564 0.00 % 0 0.00 % 564 0.00 %
fs60,mq40 235 0.00 % 0 0.00 % 235 0.00 %
qd2,fs60 111 0.00 % 0 0.00 % 111 0.00 %
fs60 44 0.00 % 0 0.00 % 44 0.00 %
q20,qd2,fs60,mq40 40 0.00 % 0 0.00 % 40 0.00 %
q20,qd2,fs60 7 0.00 % 0 0.00 % 7 0.00 %
q20,fs60,mq40 2 0.00 % 0 0.00 % 2 0.00 %
q20,fs60 1 0.00 % 0 0.00 % 1 0.00 %

Coverage and Quality




Coverage Variants Quality Variants
./IMG//K012820_1_lane_gembs_coverage_variants.png ./IMG//K012820_1_lane_gembs_quality_variant.png



Filtering Criteria Distribution




Phred scale strand bias estimated using Fisher's Exact Test.
./IMG//K012820_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//K012820_1_lane_gembs_qd_variant.png ./IMG//K012820_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//K012820_1_lane_gembs_rmsmq_variant.png ./IMG//K012820_1_lane_gembs_rmsmq_nonvariant.png



Mutations

Type Mutation Status # %
Transition A>G All 8108770 38.34 %
Transition G>A All 1712833 8.10 %
Transition T>C All 6276334 29.68 %
Transition C>T All 1756829 8.31 %
Transversion A>C All 255476 1.21 %
Transversion C>A All 580196 2.74 %
Transversion T>G All 293965 1.39 %
Transversion G>T All 556674 2.63 %
Transversion A>T All 523837 2.48 %
Transversion T>A All 542463 2.56 %
Transversion C>G All 288227 1.36 %
Transversion G>C All 254228 1.20 %
Transition A>G Passed 863701 21.65 %
Transition G>A Passed 601387 15.08 %
Transition T>C Passed 705142 17.68 %
Transition C>T Passed 608656 15.26 %
Transversion A>C Passed 151867 3.81 %
Transversion C>A Passed 157339 3.94 %
Transversion T>G Passed 154448 3.87 %
Transversion G>T Passed 157729 3.95 %
Transversion A>T Passed 140361 3.52 %
Transversion T>A Passed 140542 3.52 %
Transversion C>G Passed 154529 3.87 %
Transversion G>C Passed 152926 3.83 %
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 5.42 17854766 3295066
Passed 2.30 2778886 1209741
dbSNPAll 0 0 0
dbSNPPassed 0 0 0