Name: 043_tsvc_variants
Variants: 37391
Novel Variants: 432 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 37391 22220 0/1 4 0/2 15071 1/1 83 1/2 1 1/3 11 2/2 1 3/3
Total Gene-associated SNVs 37391 22220 0/1 4 0/2 15071 1/1 83 1/2 1 1/3 11 2/2 1 3/3

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION57
CODON_CHANGE_PLUS_CODON_INSERTION44
CODON_DELETION29
CODON_INSERTION29
CODON_INSERTION+SPLICE_SITE_REGION1
FRAME_SHIFT140
FRAME_SHIFT+SPLICE_SITE_REGION23
FRAME_SHIFT+START_LOST1
FRAME_SHIFT+STOP_GAINED6
FRAME_SHIFT+STOP_LOST4
MOTIF[MA0003.1:Ap2alpha]4
MOTIF[MA0024.1:E2F1]2
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]3
MOTIF[MA0062.1:Gabp]2
MOTIF[MA0062.2:Gabp]5
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]2
MOTIF[MA0080.1:PU1]1
MOTIF[MA0095.1:Yy1]4
MOTIF[MA0114.1:HNF4A]2
MOTIF[MA0139.1:CTCF]13
MOTIF[MA0147.1:Cmyc]1
MOTIF[MA0162.1:Egr1]4
NON_SYNONYMOUS_CODING8520
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION198
PROTEIN_PROTEIN_INTERACTION_LOCUS5
PROTEIN_STRUCTURAL_INTERACTION_LOCUS226
SPLICE_SITE_REGION16
SPLICE_SITE_REGION+SYNONYMOUS_CODING215
START_GAINED143
START_LOST8
STOP_GAINED72
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST16
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING9743
SYNONYMOUS_STOP8
TRANSCRIPT1
None0

Type Total Variants
770
MISSENSE8746
NONSENSE73
SILENT9966
None0

Type Total Variants
HIGH506
LOW10147
MODERATE8878
MODIFIER24
None0

Type Total Variants
PASS37391

Quality Value
Min10.0
Average558.918620523657
Max3882.63

Read Depth Value
Min5
Average114.03672006632613
Max1083

Type Total Variants
None0

Chromossome Total Variants
13862
101566
112597
121993
13702
141116
151250
161551
172506
18589
192828
22512
20933
21485
22738
31948
41447
51585
62147
71591
81433
91520
X489
Y3