Name: index13_otb1697_gerard goyette_500-049a_human_hex_av5-utr_50x_03232016 deduplicated realigned recalibrated snpeff snpsift
Variants: 306968
Novel Variants: 4328 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 306968 165222 0/1 140784 1/1 962 1/2
Total Gene-associated SNVs 306968 165222 0/1 140784 1/1 962 1/2

Type Total Variants
29
CODON_CHANGE_PLUS_CODON_DELETION116
CODON_CHANGE_PLUS_CODON_INSERTION77
CODON_DELETION52
CODON_DELETION+SPLICE_SITE_REGION1
CODON_INSERTION60
CODON_INSERTION+SPLICE_SITE_REGION1
FRAME_SHIFT177
FRAME_SHIFT+SPLICE_SITE_REGION41
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED5
FRAME_SHIFT+STOP_LOST3
GENE_FUSION1
MOTIF_DELETED2
MOTIF[MA0003.1:Ap2alpha]30
MOTIF[MA0014.1:Pax5]5
MOTIF[MA0016.1:RXRA]4
MOTIF[MA0024.1:E2F1]5
MOTIF[MA0036.1:Gata2]3
MOTIF[MA0047.1:FOXA2]2
MOTIF[MA0047.2:FOXA2]5
MOTIF[MA0058.1:Max]23
MOTIF[MA0059.1:Cmyc]9
MOTIF[MA0062.1:Gabp]15
MOTIF[MA0062.2:Gabp]54
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0065.2:PPARG]3
MOTIF[MA0079.1:SP1]8
MOTIF[MA0079.2:SP1]58
MOTIF[MA0080.1:PU1]3
MOTIF[MA0080.2:PU1]6
MOTIF[MA0083.1:Srf]1
MOTIF[MA0093.1:USF1]20
MOTIF[MA0095.1:Yy1]15
MOTIF[MA0099.1:Cfos]4
MOTIF[MA0099.2:AP1]4
MOTIF[MA0114.1:HNF4A]13
MOTIF[MA0115.1:RNR1H2]1
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]11
MOTIF[MA0139.1:CTCF]171
MOTIF[MA0140.1:Tal1]2
MOTIF[MA0147.1:Cmyc]14
MOTIF[MA0148.1:FOXA1]3
MOTIF[MA0154.1:EBF]7
MOTIF[MA0159.1:RXR]3
MOTIF[MA0162.1:Egr1]52
NON_SYNONYMOUS_CODING13321
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION287
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS330
SPLICE_SITE_REGION103
SPLICE_SITE_REGION+SYNONYMOUS_CODING293
START_GAINED547
START_LOST28
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
START_LOST+CODON_DELETION1
STOP_GAINED106
STOP_GAINED+CODON_CHANGE_PLUS_CODON_DELETION1
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST28
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING14210
SYNONYMOUS_STOP17
TRANSCRIPT3
None0

Type Total Variants
2114
MISSENSE13668
NONSENSE108
SILENT14520
None0

Type Total Variants
HIGH734
LOW15390
MODERATE13915
MODIFIER371
None0

Type Total Variants
.306968

Quality Value
Min30.19
Average847.607469837248
Max35775.19

Read Depth Value
Min2
Average49.71160186078028
Max250

Type Total Variants
None0
-62
2|5|51
4|2|21
5|5|51
3,38
2,211
3|213
-510
-5|-51
2|33
5,52
2|268
2204
3127
2|2|23
63
5|5|5|5|51
531
5|22
2|2,2|22
5|2|21
2|2|2|23
6|21
5|51
2|51

Chromossome Total Variants
128710
1015217
1116638
1216836
136642
1410778
1510792
1612381
1715255
185865
1916762
222465
208129
215056
227486
316585
414367
513889
613821
717508
812091
913390
M29
X5008
Y1268