Name: wes_0001 hg19 bwa gatk freebayes combined
Variants: 117511
Novel Variants: 10014 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 117511 1 ./0 70488 0/1 69 ./1 46250 1/1 632 1/2 71 2/1
Total Gene-associated SNVs 117511 1 ./0 70488 0/1 69 ./1 46250 1/1 632 1/2 71 2/1

Type Total Variants
29
CODON_CHANGE_PLUS_CODON_DELETION136
CODON_CHANGE_PLUS_CODON_DELETION+SYNONYMOUS_CODING1
CODON_CHANGE_PLUS_CODON_INSERTION88
CODON_DELETION80
CODON_DELETION+SPLICE_SITE_REGION2
CODON_DELETION+SYNONYMOUS_CODING2
CODON_INSERTION107
CODON_INSERTION+SPLICE_SITE_REGION1
FRAME_SHIFT296
FRAME_SHIFT+NON_SYNONYMOUS_CODING6
FRAME_SHIFT+SPLICE_SITE_REGION44
FRAME_SHIFT+START_LOST1
FRAME_SHIFT+STOP_GAINED3
FRAME_SHIFT+STOP_LOST3
GENE_FUSION1
GENE_FUSION_REVERESE2
MOTIF_DELETED4
MOTIF[MA0003.1:Ap2alpha]17
MOTIF[MA0014.1:Pax5]5
MOTIF[MA0016.1:RXRA]2
MOTIF[MA0024.1:E2F1]3
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0058.1:Max]13
MOTIF[MA0059.1:Cmyc]2
MOTIF[MA0062.1:Gabp]6
MOTIF[MA0062.2:Gabp]20
MOTIF[MA0079.1:SP1]3
MOTIF[MA0079.2:SP1]14
MOTIF[MA0080.1:PU1]1
MOTIF[MA0080.2:PU1]4
MOTIF[MA0093.1:USF1]4
MOTIF[MA0095.1:Yy1]8
MOTIF[MA0099.1:Cfos]2
MOTIF[MA0099.2:AP1]2
MOTIF[MA0114.1:HNF4A]6
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]2
MOTIF[MA0139.1:CTCF]75
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]9
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0154.1:EBF]4
MOTIF[MA0162.1:Egr1]19
NON_SYNONYMOUS_CODING12079
NON_SYNONYMOUS_CODING+CODON_CHANGE_PLUS_CODON_DELETION1
NON_SYNONYMOUS_CODING+CODON_DELETION1
NON_SYNONYMOUS_CODING+CODON_INSERTION3
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION254
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS243
SPLICE_SITE_REGION41
SPLICE_SITE_REGION+SYNONYMOUS_CODING235
START_GAINED279
START_LOST10
START_LOST+CODON_DELETION1
STOP_GAINED131
STOP_GAINED+CODON_CHANGE_PLUS_CODON_DELETION2
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST24
STOP_LOST+CODON_CHANGE_PLUS_CODON_DELETION1
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING11805
SYNONYMOUS_STOP13
TRANSCRIPT2
None0

Type Total Variants
2109
MISSENSE11941
NONSENSE123
SILENT11994
None0

Type Total Variants
HIGH777
LOW12483
MODERATE12755
MODIFIER152
None0

Type Total Variants
.1867
HARD_TO_VALIDATE4
HARD_TO_VALIDATE;SnpCluster7
HARD_TO_VALIDATE;StrandBias1
LowCoverage5269
LowCoverage;LowQual2042
LowCoverage;LowQual;SnpCluster8
LowCoverage;SnpCluster62
LowCoverage;SnpCluster;VeryLowQual41
LowCoverage;VeryLowQual1682
LowQD2246
LowQD;LowQual78
LowQD;LowQual;SnpCluster19
LowQD;LowQual;StrandBias4
LowQD;SnpCluster177
LowQD;SnpCluster;StrandBias5
LowQD;SnpCluster;VeryLowQual29
LowQD;StrandBias28
LowQD;StrandBias;VeryLowQual2
LowQD;VeryLowQual182
LowQual973
LowQual;SnpCluster24
PASS100266
SnpCluster1809
SnpCluster;StrandBias54
SnpCluster;VeryLowQual3
StrandBias140
VeryLowQual489

Quality Value
Min10.15
Average1679.70191922598
Max116001.77

Read Depth Value
Min0
Average0.0
Max0

Type Total Variants
None0

Chromossome Total Variants
111568
105274
117320
126666
132352
144388
153850
165075
176716
181899
197966
28436
202998
211718
222674
36265
44909
54980
65051
76464
84184
95130
M29
X1559
Y40