Name: azm002
Variants: 415268
Novel Variants: 9560 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION100
CODON_CHANGE_PLUS_CODON_INSERTION69
CODON_DELETION53
CODON_INSERTION66
FRAME_SHIFT305
FRAME_SHIFT+SPLICE_SITE_REGION37
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED5
FRAME_SHIFT+STOP_LOST3
GENE_FUSION_REVERESE1
MOTIF_DELETED2
MOTIF[MA0003.1:Ap2alpha]16
MOTIF[MA0014.1:Pax5]3
MOTIF[MA0016.1:RXRA]2
MOTIF[MA0024.1:E2F1]5
MOTIF[MA0035.1:Gata1]1
MOTIF[MA0036.1:Gata2]3
MOTIF[MA0047.2:FOXA2]6
MOTIF[MA0058.1:Max]19
MOTIF[MA0059.1:Cmyc]7
MOTIF[MA0062.1:Gabp]8
MOTIF[MA0062.2:Gabp]27
MOTIF[MA0065.1:PPARG]3
MOTIF[MA0065.2:PPARG]3
MOTIF[MA0079.1:SP1]13
MOTIF[MA0079.2:SP1]17
MOTIF[MA0080.1:PU1]5
MOTIF[MA0080.2:PU1]4
MOTIF[MA0093.1:USF1]16
MOTIF[MA0095.1:Yy1]13
MOTIF[MA0099.1:Cfos]3
MOTIF[MA0099.2:AP1]7
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]10
MOTIF[MA0115.1:RNR1H2]1
MOTIF[MA0138.2:Nrsf]16
MOTIF[MA0139.1:CTCF]166
MOTIF[MA0140.1:Tal1]2
MOTIF[MA0147.1:Cmyc]7
MOTIF[MA0148.1:FOXA1]7
MOTIF[MA0154.1:EBF]6
MOTIF[MA0159.1:RXR]2
MOTIF[MA0162.1:Egr1]34
MOTIF[MA0239.1:Pax5]1
NON_SYNONYMOUS_CODING12569
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION273
NON_SYNONYMOUS_START3
PROTEIN_PROTEIN_INTERACTION_LOCUS5
PROTEIN_STRUCTURAL_INTERACTION_LOCUS305
SPLICE_SITE_REGION129
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING277
START_GAINED472
START_LOST14
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
START_LOST+CODON_DELETION2
STOP_GAINED116
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION2
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST27
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING13472
SYNONYMOUS_STOP9
None0

Type Total Variants
1998
MISSENSE12889
NONSENSE118
SILENT13758
None0

Type Total Variants
HIGH832
LOW14524
MODERATE13133
MODIFIER274
None0

Type Total Variants
.48303
PASS245717
VQSRTrancheSNP85.00to90.0019506
VQSRTrancheSNP90.00to97.0046852
VQSRTrancheSNP97.00to98.005426
VQSRTrancheSNP98.00to99.009062
VQSRTrancheSNP99.00to99.303965
VQSRTrancheSNP99.30to99.401519
VQSRTrancheSNP99.40to99.501742
VQSRTrancheSNP99.50to99.601980
VQSRTrancheSNP99.60to99.805586
VQSRTrancheSNP99.80to99.905979
VQSRTrancheSNP99.90to99.956358
VQSRTrancheSNP99.95to100.0013273

Quality Value
Min10.11
Average6669.96131828105
Max4054410.0

Read Depth Value
Min0
Average11.306992111118603
Max4412

Type Total Variants
None0

Chromossome Total Variants
136204
1018914
1120424
1220308
1310659
1413783
1513699
1616454
1716163
188898
1915976
230520
2010372
218365
227727
325919
423431
521687
625155
723443
818308
917027
X11514
Y318