Name: combined sample_96.variant41
Variants: 178990
Novel Variants: 5812 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 178990 118641 0/1 2 0/10 4 0/11 3 0/12 4 0/13 1 0/15 1 0/16 2000 0/2 593 0/3 297 0/4 118 0/5 81 0/6 37 0/7 29 0/8 19 0/9 3 10/1 4 10/10 55145 1/1 1 1/10 1 1/11 1 11/1 3 11/11 1 11/12 1 11/2 1 11/4 1 11/5 2 11/9 387 1/2 3 12/12 1 12/16 1 12/5 1 12/6 1 12/9 77 1/3 1 13/12 3 13/13 1 13/5 29 1/4 1 14/14 1 14/15 1 14/3 14 1/5 9 1/6 1 16/16 5 1/7 2 1/8 3 1/9 224 2/1 2 2/10 1 2/11 1 2/13 495 2/2 52 2/3 14 2/4 10 2/5 5 2/6 7 2/7 4 2/8 2 2/9 62 3/1 1 3/13 1 3/14 48 3/2 120 3/3 15 3/4 5 3/5 9 3/6 2 3/7 4 3/8 1 3/9 24 4/1 1 4/10 1 4/13 23 4/2 14 4/3 73 4/4 5 4/5 5 4/6 3 4/7 2 4/9 17 5/1 7 5/2 8 5/3 6 5/4 37 5/5 2 5/6 3 5/7 2 5/8 2 5/9 7 6/1 1 6/10 6 6/2 2 6/3 7 6/4 4 6/5 41 6/6 2 6/7 3 6/8 3 7/2 2 7/3 2 7/4 2 7/5 1 7/6 8 7/7 2 7/8 2 8/1 3 8/2 3 8/3 1 8/4 1 8/5 1 8/6 2 8/7 9 8/8 3 9/1 1 9/10 1 9/13 1 9/2 2 9/4 2 9/7 1 9/8 8 9/9
Total Gene-associated SNVs 178990 118641 0/1 2 0/10 4 0/11 3 0/12 4 0/13 1 0/15 1 0/16 2000 0/2 593 0/3 297 0/4 118 0/5 81 0/6 37 0/7 29 0/8 19 0/9 3 10/1 4 10/10 55145 1/1 1 1/10 1 1/11 1 11/1 3 11/11 1 11/12 1 11/2 1 11/4 1 11/5 2 11/9 387 1/2 3 12/12 1 12/16 1 12/5 1 12/6 1 12/9 77 1/3 1 13/12 3 13/13 1 13/5 29 1/4 1 14/14 1 14/15 1 14/3 14 1/5 9 1/6 1 16/16 5 1/7 2 1/8 3 1/9 224 2/1 2 2/10 1 2/11 1 2/13 495 2/2 52 2/3 14 2/4 10 2/5 5 2/6 7 2/7 4 2/8 2 2/9 62 3/1 1 3/13 1 3/14 48 3/2 120 3/3 15 3/4 5 3/5 9 3/6 2 3/7 4 3/8 1 3/9 24 4/1 1 4/10 1 4/13 23 4/2 14 4/3 73 4/4 5 4/5 5 4/6 3 4/7 2 4/9 17 5/1 7 5/2 8 5/3 6 5/4 37 5/5 2 5/6 3 5/7 2 5/8 2 5/9 7 6/1 1 6/10 6 6/2 2 6/3 7 6/4 4 6/5 41 6/6 2 6/7 3 6/8 3 7/2 2 7/3 2 7/4 2 7/5 1 7/6 8 7/7 2 7/8 2 8/1 3 8/2 3 8/3 1 8/4 1 8/5 1 8/6 2 8/7 9 8/8 3 9/1 1 9/10 1 9/13 1 9/2 2 9/4 2 9/7 1 9/8 8 9/9

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION144
CODON_CHANGE_PLUS_CODON_INSERTION116
CODON_DELETION51
CODON_INSERTION130
FRAME_SHIFT409
FRAME_SHIFT+SPLICE_SITE_REGION45
FRAME_SHIFT+START_LOST5
FRAME_SHIFT+STOP_GAINED11
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION1
FRAME_SHIFT+STOP_LOST6
GENE_FUSION_REVERESE4
MOTIF_DELETED19
MOTIF[MA0003.1:Ap2alpha]48
MOTIF[MA0014.1:Pax5]9
MOTIF[MA0016.1:RXRA]4
MOTIF[MA0024.1:E2F1]15
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0047.1:FOXA2]3
MOTIF[MA0047.2:FOXA2]4
MOTIF[MA0058.1:Max]20
MOTIF[MA0059.1:Cmyc]11
MOTIF[MA0062.1:Gabp]19
MOTIF[MA0062.2:Gabp]58
MOTIF[MA0065.1:PPARG]2
MOTIF[MA0065.2:PPARG]3
MOTIF[MA0079.1:SP1]21
MOTIF[MA0079.2:SP1]54
MOTIF[MA0080.1:PU1]4
MOTIF[MA0080.2:PU1]8
MOTIF[MA0093.1:USF1]10
MOTIF[MA0095.1:Yy1]14
MOTIF[MA0099.1:Cfos]2
MOTIF[MA0099.2:AP1]2
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]15
MOTIF[MA0115.1:RNR1H2]1
MOTIF[MA0138.1:Nrsf]2
MOTIF[MA0138.2:Nrsf]7
MOTIF[MA0139.1:CTCF]121
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]21
MOTIF[MA0148.1:FOXA1]2
MOTIF[MA0154.1:EBF]9
MOTIF[MA0162.1:Egr1]79
MOTIF[MA0239.1:Pax5]1
NON_SYNONYMOUS_CODING13429
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION272
NON_SYNONYMOUS_START2
PROTEIN_PROTEIN_INTERACTION_LOCUS5
PROTEIN_STRUCTURAL_INTERACTION_LOCUS287
SPLICE_SITE_REGION142
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION3
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING293
START_GAINED712
START_LOST17
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
START_LOST+CODON_DELETION1
STOP_GAINED136
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION4
STOP_LOST30
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING13689
SYNONYMOUS_STOP15
TRANSCRIPT7
None0

Type Total Variants
2675
MISSENSE13754
NONSENSE140
SILENT13997
None0

Type Total Variants
HIGH967
LOW15157
MODERATE14147
MODIFIER295
None0

Type Total Variants
DRAGENHardINDEL117
DRAGENHardSNP1390
PASS177483

Quality Value
Min30.01
Average1554.22730118998
Max160266.0

Read Depth Value
Min0
Average88.08457455723783
Max3603

Type Total Variants
None0
41
2|21
24
31
5|51

Chromossome Total Variants
117686
107488
1110664
129579
133321
145710
156262
167839
179644
183577
1911375
212249
204781
212745
224324
39944
47259
57846
610873
79648
86428
97329
X2259
Y160