Name: el-exome_s1
Variants: 41967
Novel Variants: 1609 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 41967 26949 0/1 3 1 14870 1/1 145 1/2
Total Gene-associated SNVs 41967 26949 0/1 3 1 14870 1/1 145 1/2

Type Total Variants
31
CODON_CHANGE_PLUS_CODON_DELETION84
CODON_CHANGE_PLUS_CODON_INSERTION55
CODON_DELETION41
CODON_INSERTION50
FRAME_SHIFT130
FRAME_SHIFT+SPLICE_SITE_REGION40
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED3
FRAME_SHIFT+STOP_LOST2
GENE_FUSION_REVERESE1
MOTIF[MA0003.1:Ap2alpha]3
MOTIF[MA0014.1:Pax5]3
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]2
MOTIF[MA0062.1:Gabp]2
MOTIF[MA0062.2:Gabp]5
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0095.1:Yy1]4
MOTIF[MA0138.2:Nrsf]1
MOTIF[MA0139.1:CTCF]16
MOTIF[MA0147.1:Cmyc]3
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0154.1:EBF]2
MOTIF[MA0162.1:Egr1]8
NON_SYNONYMOUS_CODING12822
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION291
NON_SYNONYMOUS_START4
PROTEIN_PROTEIN_INTERACTION_LOCUS3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS280
SPLICE_SITE_REGION15
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING258
START_GAINED94
START_LOST13
STOP_GAINED161
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION5
STOP_LOST29
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING12303
SYNONYMOUS_STOP9
None0

Type Total Variants
888
MISSENSE13162
NONSENSE166
SILENT12570
None0

Type Total Variants
HIGH673
LOW12710
MODERATE13346
MODIFIER57
None0

Type Total Variants
LowGQ23
LowGQ;LowGQX2520
LowGQ;LowGQX;LowMQ48
LowGQ;LowGQX;LowMQ;LowQD70
LowGQ;LowGQX;LowMQ;LowQD;SB155
LowGQ;LowGQX;LowMQ;SB38
LowGQ;LowGQX;LowQD6
LowGQ;LowGQX;LowQD;SB8
LowGQ;LowGQX;SB612
LowGQ;LowMQ;LowQD1
LowGQ;LowMQ;LowQD;SB1
LowGQ;LowMQ;SB1
LowGQ;SB3
LowGQX184
LowGQX;LowMQ;LowQD33
LowGQX;LowMQ;LowQD;SB126
LowGQX;LowQD970
LowGQX;LowQD;SB891
LowGQX;SB165
LowMQ130
LowMQ;LowQD251
LowMQ;LowQD;SB203
LowMQ;SB17
LowQD1476
LowQD;SB499
PASS33036
SB500

Quality Value
Min3.03
Average875.337096289948
Max22191.7

Read Depth Value
Min1
Average86.65880334548574
Max4453

Type Total Variants
None0

Chromossome Total Variants
13960
101809
112807
122096
13644
141506
151397
161896
172369
18658
193135
22806
20903
21660
221062
32280
41676
51687
62692
72181
81358
91662
M31
X671
Y21