Name: g06400842-ib-ex-60-1791_s19 soft_filtered
Variants: 27517
Novel Variants: 424 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 27517 16521 0/1 10938 1/1 58 1/2
Total Gene-associated SNVs 27517 16521 0/1 10938 1/1 58 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION169
CODON_CHANGE_PLUS_CODON_INSERTION108
CODON_DELETION67
CODON_INSERTION81
FRAME_SHIFT267
FRAME_SHIFT+SPLICE_SITE_REGION41
FRAME_SHIFT+START_LOST6
FRAME_SHIFT+STOP_GAINED3
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION1
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]2
MOTIF[MA0062.2:Gabp]1
MOTIF[MA0095.1:Yy1]2
MOTIF[MA0139.1:CTCF]2
MOTIF[MA0162.1:Egr1]2
NON_SYNONYMOUS_CODING10644
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION195
PROTEIN_PROTEIN_INTERACTION_LOCUS6
PROTEIN_STRUCTURAL_INTERACTION_LOCUS252
SPLICE_SITE_REGION4
SPLICE_SITE_REGION+SYNONYMOUS_CODING240
START_GAINED27
START_LOST10
START_LOST+CODON_CHANGE_PLUS_CODON_DELETION1
STOP_GAINED107
STOP_GAINED+CODON_INSERTION2
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST17
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING11169
SYNONYMOUS_STOP6
None0

Type Total Variants
1046
MISSENSE10870
NONSENSE108
SILENT11415
None0

Type Total Variants
HIGH720
LOW11454
MODERATE11264
MODIFIER1
None0

Type Total Variants
basic_indel_filter73
basic_snp_filter923
CNN_1D_INDEL_Tranche_99.40_100.0023
CNN_1D_INDEL_Tranche_99.40_100.00;basic_indel_filter11
CNN_1D_SNP_Tranche_99.95_100.00213
CNN_1D_SNP_Tranche_99.95_100.00;basic_snp_filter220
PASS26054

Quality Value
Min30.6
Average1768.12351419144
Max88315.6

Read Depth Value
Min1
Average111.9828833085002
Max3277

Type Total Variants
None0

Chromossome Total Variants
12855
101114
112127
121342
13448
14819
15784
161027
171827
18442
192195
21778
20609
21296
22548
31624
41110
51112
61742
71321
8828
91088
X470
Y11