Name: mr50 2
Variants: 38294
Novel Variants: 335 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 38294 23076 0/1 1 0/2 15105 1/1 110 1/2 2 2/3
Total Gene-associated SNVs 38294 23076 0/1 1 0/2 15105 1/1 110 1/2 2 2/3

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION128
CODON_CHANGE_PLUS_CODON_INSERTION110
CODON_DELETION50
CODON_INSERTION74
FRAME_SHIFT199
FRAME_SHIFT+SPLICE_SITE_REGION43
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED5
FRAME_SHIFT+STOP_LOST1
GENE_FUSION_REVERESE1
MOTIF[MA0003.1:Ap2alpha]7
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]2
MOTIF[MA0062.1:Gabp]2
MOTIF[MA0062.2:Gabp]3
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]2
MOTIF[MA0080.2:PU1]1
MOTIF[MA0095.1:Yy1]3
MOTIF[MA0138.2:Nrsf]1
MOTIF[MA0139.1:CTCF]18
MOTIF[MA0147.1:Cmyc]2
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0162.1:Egr1]6
NON_SYNONYMOUS_CODING11026
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION233
NON_SYNONYMOUS_START1
PROTEIN_STRUCTURAL_INTERACTION_LOCUS245
SPLICE_SITE_REGION14
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING273
START_GAINED80
START_LOST11
STOP_GAINED98
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION3
STOP_LOST25
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING11625
SYNONYMOUS_STOP12
None0

Type Total Variants
1009
MISSENSE11299
NONSENSE101
SILENT11910
None0

Type Total Variants
HIGH638
LOW12035
MODERATE11624
MODIFIER22
None0

Type Total Variants
PASS38294

Quality Value
Min3.0
Average77.0683187966779
Max150.0

Read Depth Value
Min2
Average217.70410508173603
Max1425

Type Total Variants
None0

Chromossome Total Variants
13938
101624
112560
121965
13633
141432
151377
161638
172213
18590
192868
22399
20893
21575
221017
31985
41464
51550
62440
71879
81247
91501
X492
Y14