Name: tsvc_variants_ionxpress_001
Variants: 33818
Novel Variants: 600 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 33818 20930 0/1 36 0/2 12728 1/1 83 1/2 1 1/3 35 2/2 2 2/3 3 3/3
Total Gene-associated SNVs 33818 20930 0/1 36 0/2 12728 1/1 83 1/2 1 1/3 35 2/2 2 2/3 3 3/3

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION43
CODON_CHANGE_PLUS_CODON_INSERTION25
CODON_DELETION17
CODON_INSERTION16
FRAME_SHIFT187
FRAME_SHIFT+SPLICE_SITE_REGION31
FRAME_SHIFT+START_LOST1
FRAME_SHIFT+STOP_GAINED1
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]2
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]4
MOTIF[MA0062.1:Gabp]3
MOTIF[MA0062.2:Gabp]5
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]3
MOTIF[MA0095.1:Yy1]3
MOTIF[MA0114.1:HNF4A]2
MOTIF[MA0139.1:CTCF]11
MOTIF[MA0147.1:Cmyc]2
MOTIF[MA0162.1:Egr1]3
NON_SYNONYMOUS_CODING7623
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION178
PROTEIN_PROTEIN_INTERACTION_LOCUS5
PROTEIN_STRUCTURAL_INTERACTION_LOCUS206
SPLICE_SITE_REGION13
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING193
START_GAINED124
START_LOST9
STOP_GAINED51
STOP_LOST15
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING8991
SYNONYMOUS_STOP9
TRANSCRIPT1
None0

Type Total Variants
824
MISSENSE7721
NONSENSE51
SILENT9190
None0

Type Total Variants
HIGH511
LOW9351
MODERATE7903
MODIFIER21
None0

Type Total Variants
PASS33818

Quality Value
Min10.0
Average274.290598293811
Max3758.58

Read Depth Value
Min7
Average60.421698503755394
Max607

Type Total Variants
None0

Chromossome Total Variants
13619
101394
112186
121884
13634
141008
151136
161547
172195
18577
192511
22395
20886
21481
22711
31835
41354
51473
61736
71457
81164
91282
X353