Name: tsvc_variants_ionxpress_027
Variants: 33572
Novel Variants: 709 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 33572 21126 0/1 3 0/2 12359 1/1 65 1/2 1 1/3 18 2/2
Total Gene-associated SNVs 33572 21126 0/1 3 0/2 12359 1/1 65 1/2 1 1/3 18 2/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION49
CODON_CHANGE_PLUS_CODON_INSERTION24
CODON_DELETION23
CODON_INSERTION23
FRAME_SHIFT88
FRAME_SHIFT+SPLICE_SITE_REGION27
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED3
FRAME_SHIFT+STOP_LOST2
GENE_FUSION1
MOTIF[MA0003.1:Ap2alpha]7
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0058.1:Max]4
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0062.2:Gabp]5
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]2
MOTIF[MA0080.1:PU1]1
MOTIF[MA0080.2:PU1]1
MOTIF[MA0093.1:USF1]2
MOTIF[MA0095.1:Yy1]3
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0114.1:HNF4A]1
MOTIF[MA0138.2:Nrsf]1
MOTIF[MA0139.1:CTCF]20
MOTIF[MA0147.1:Cmyc]1
MOTIF[MA0162.1:Egr1]4
NON_SYNONYMOUS_CODING6475
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION131
PROTEIN_PROTEIN_INTERACTION_LOCUS3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS175
SPLICE_SITE_REGION10
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING142
START_GAINED86
START_LOST6
STOP_GAINED43
STOP_GAINED+CODON_CHANGE_PLUS_CODON_DELETION1
STOP_GAINED+CODON_INSERTION2
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST17
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING7422
SYNONYMOUS_STOP3
TRANSCRIPT1
None0

Type Total Variants
697
MISSENSE6515
NONSENSE44
SILENT7565
None0

Type Total Variants
HIGH374
LOW7686
MODERATE6726
MODIFIER35
None0

Type Total Variants
PASS33572

Quality Value
Min10.0
Average375.469005969259
Max2981.88

Read Depth Value
Min21
Average111.34245800071488
Max938

Type Total Variants
None0

Chromossome Total Variants
13536
101349
112402
121563
13513
14985
151165
161531
172295
18510
192792
22064
20972
21492
22870
31816
41137
51385
61662
71445
81147
91386
X555