/EXTERNAL Roadmap/variants/K012813_1_lane_gembs

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SAMPLE K012813_1_lane_gembs




Variant counts

Type Total Pass %
SNPs 1142668718 60156659 5.26 %
Multiallelic 0 0 0.00 %



VCF Filtering Stats

Type #Sites % #Non-Variant Sites % #Variant Sites %
All 1142668718 100% 1116506052 97.71 % 26162666 2.29 %
Passed 69928218 6.12 % 59250815 5.31 % 10677403 15.27 %
Filtered 1072740500 93.88 % 1057255237 94.69 % 15485263 22.14 %
q20 1005831951 93.76 % 998077507 94.40 % 7754444 50.08 %
q20,qd2 41463542 3.87 % 34093544 3.22 % 7369998 47.59 %
q20,mq40 18503198 1.72 % 18385398 1.74 % 117800 0.76 %
q20,qd2,mq40 6606348 0.62 % 6528245 0.62 % 78103 0.50 %
mq40 301732 0.03 % 142279 0.01 % 159453 1.03 %
qd2 19429 0.00 % 17169 0.00 % 2260 0.01 %
qd2,mq40 14027 0.00 % 11095 0.00 % 2932 0.02 %
qd2,fs60,mq40 140 0.00 % 0 0.00 % 140 0.00 %
fs60,mq40 65 0.00 % 0 0.00 % 65 0.00 %
qd2,fs60 54 0.00 % 0 0.00 % 54 0.00 %
q20,qd2,fs60,mq40 8 0.00 % 0 0.00 % 8 0.00 %
fs60 5 0.00 % 0 0.00 % 5 0.00 %
q20,qd2,fs60 1 0.00 % 0 0.00 % 1 0.00 %
q20,fs60 0 0.00 % 0 0.00 % 0 0.00 %
q20,fs60,mq40 0 0.00 % 0 0.00 % 0 0.00 %

Coverage and Quality




Coverage Variants Quality Variants
./IMG//K012813_1_lane_gembs_coverage_variants.png ./IMG//K012813_1_lane_gembs_quality_variant.png



Filtering Criteria Distribution




Phred scale strand bias estimated using Fisher's Exact Test.
./IMG//K012813_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//K012813_1_lane_gembs_qd_variant.png ./IMG//K012813_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//K012813_1_lane_gembs_rmsmq_variant.png ./IMG//K012813_1_lane_gembs_rmsmq_nonvariant.png



Mutations

Type Mutation Status # %
Transition A>G All 9489212 33.32 %
Transition G>A All 1328748 4.67 %
Transition T>C All 5018542 17.62 %
Transition C>T All 1491538 5.24 %
Transversion A>C All 593892 2.09 %
Transversion C>A All 1994278 7.00 %
Transversion T>G All 1364986 4.79 %
Transversion G>T All 1686769 5.92 %
Transversion A>T All 1803672 6.33 %
Transversion T>A All 2346443 8.24 %
Transversion C>G All 867821 3.05 %
Transversion G>C All 492992 1.73 %
Transition A>G Passed 170746 17.84 %
Transition G>A Passed 113348 11.84 %
Transition T>C Passed 129478 13.53 %
Transition C>T Passed 119692 12.51 %
Transversion A>C Passed 51662 5.40 %
Transversion C>A Passed 53997 5.64 %
Transversion T>G Passed 57215 5.98 %
Transversion G>T Passed 54755 5.72 %
Transversion A>T Passed 48747 5.09 %
Transversion T>A Passed 49080 5.13 %
Transversion C>G Passed 55659 5.82 %
Transversion G>C Passed 52570 5.49 %
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 1.55 17328040 11150853
Passed 1.26 533264 423685
dbSNPAll 0 0 0
dbSNPPassed 0 0 0