/EXTERNAL Roadmap/variants/K006486_1_lane_gembs

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SAMPLE K006486_1_lane_gembs




Variant counts

Type Total Pass %
SNPs 1156580020 1065311505 92.11 %
Multiallelic 0 0 0.00 %



VCF Filtering Stats

Type #Sites % #Non-Variant Sites % #Variant Sites %
All 1156580020 100% 1148805340 99.33 % 7774680 0.67 %
Passed 1065533277 92.13 % 1062510670 92.49 % 3022607 0.28 %
Filtered 91046743 7.87 % 86294670 7.51 % 4752073 0.45 %
mq40 44772082 49.17 % 44168921 51.18 % 603161 12.69 %
q20 19539802 21.46 % 19196815 22.25 % 342987 7.22 %
q20,mq40 18762989 20.61 % 18501946 21.44 % 261043 5.49 %
q20,qd2 3281189 3.60 % 832635 0.96 % 2448554 51.53 %
q20,qd2,mq40 2539455 2.79 % 1881256 2.18 % 658199 13.85 %
qd2 1745405 1.92 % 1443065 1.67 % 302340 6.36 %
qd2,mq40 334734 0.37 % 270032 0.31 % 64702 1.36 %
fs60 26012 0.03 % 0 0.00 % 26012 0.55 %
q20,qd2,fs60 24109 0.03 % 0 0.00 % 24109 0.51 %
fs60,mq40 8909 0.01 % 0 0.00 % 8909 0.19 %
q20,fs60 8370 0.01 % 0 0.00 % 8370 0.18 %
qd2,fs60 2391 0.00 % 0 0.00 % 2391 0.05 %
q20,qd2,fs60,mq40 640 0.00 % 0 0.00 % 640 0.01 %
qd2,fs60,mq40 527 0.00 % 0 0.00 % 527 0.01 %
q20,fs60,mq40 129 0.00 % 0 0.00 % 129 0.00 %

Coverage and Quality




Coverage Variants Quality Variants
./IMG//K006486_1_lane_gembs_coverage_variants.png ./IMG//K006486_1_lane_gembs_quality_variant.png



Filtering Criteria Distribution




Phred scale strand bias estimated using Fisher's Exact Test.
./IMG//K006486_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//K006486_1_lane_gembs_qd_variant.png ./IMG//K006486_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//K006486_1_lane_gembs_rmsmq_variant.png ./IMG//K006486_1_lane_gembs_rmsmq_nonvariant.png



Mutations

Type Mutation Status # %
Transition A>G All 2488778 26.75 %
Transition G>A All 970536 10.43 %
Transition T>C All 2500847 26.88 %
Transition C>T All 977876 10.51 %
Transversion A>C All 239758 2.58 %
Transversion C>A All 378916 4.07 %
Transversion T>G All 242147 2.60 %
Transversion G>T All 385542 4.14 %
Transversion A>T All 340648 3.66 %
Transversion T>A All 331710 3.56 %
Transversion C>G All 223877 2.41 %
Transversion G>C All 224713 2.41 %
Transition A>G Passed 754337 18.75 %
Transition G>A Passed 619996 15.41 %
Transition T>C Passed 776917 19.32 %
Transition C>T Passed 628300 15.62 %
Transversion A>C Passed 163880 4.07 %
Transversion C>A Passed 156389 3.89 %
Transversion T>G Passed 163564 4.07 %
Transversion G>T Passed 157335 3.91 %
Transversion A>T Passed 141979 3.53 %
Transversion T>A Passed 141493 3.52 %
Transversion C>G Passed 158329 3.94 %
Transversion G>C Passed 159800 3.97 %
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 2.93 6938037 2367311
Passed 2.24 2779550 1242769
dbSNPAll 0 0 0
dbSNPPassed 0 0 0