SnpEff: Variant analysis

Contents
Summary
Variant rate by chromosome
Variants by type
Number of variants by impact
Number of variants by functional class
Number of variants by effect
Quality histogram
InDel length histogram
Base variant table
Transition vs transversions (ts/tv)
Allele frequency
Allele Count
Codon change table
Amino acid change table
Chromosome variants plots
Details by gene

Summary

Genome GRCh38.105
Date 2026-06-04 19:38
SnpEff version
SnpEff 5.1d (build 2022-04-19 15:49), by Pablo Cingolani
Command line arguments
SnpEff  GRCh38.105 -csvStats custom_Sig_18_tumor_normal.strelka.somatic_indels_custom.ann_snpEff.csv custom_Sig_18_tumor_normal.strelka.somatic_indels_custom.ann.vcf.gz 
Warnings 39
Errors 0
Number of lines (input file) 66
Number of variants (before filter) 66
Number of not variants
(i.e. reference equals alternative)
0
Number of variants processed
(i.e. after filter and non-variants)
66
Number of known variants
(i.e. non-empty ID)
0 ( 0% )
Number of multi-allelic VCF entries
(i.e. more than two alleles)
0
Number of effects 89
Genome total length 63,147,197,748
Genome effective length 46,709,983
Variant rate 1 variant every 707,727 bases


Variants rate details

Chromosome Length Variants Variants rate
21 46,709,983 66 707,727
Total 46,709,983 66 707,727


Number variants by type

Type Total
SNP 0
MNP 0
INS 25
DEL 41
MIXED 0
INV 0
DUP 0
BND 0
INTERVAL 0
Total 66


Number of effects by impact

Type (alphabetical order)   Count Percent
HIGH   10 11.236%
LOW   8 8.989%
MODERATE   5 5.618%
MODIFIER   66 74.157%


Number of effects by functional class

Type (alphabetical order)   Count Percent

Missense / Silent ratio: 0


Number of effects by type and region

Type Region
Type (alphabetical order)   Count Percent
3_prime_UTR_variant   3 3.093%
conservative_inframe_deletion   1 1.031%
disruptive_inframe_deletion   4 4.124%
downstream_gene_variant   9 9.278%
frameshift_variant   10 10.309%
intragenic_variant   2 2.062%
intron_variant   52 53.608%
non_coding_transcript_exon_variant   2 2.062%
splice_region_variant   8 8.247%
upstream_gene_variant   6 6.186%

Type (alphabetical order)   Count Percent
DOWNSTREAM   9 10.112%
EXON   17 19.101%
INTRON   44 49.438%
SPLICE_SITE_REGION   8 8.989%
TRANSCRIPT   2 2.247%
UPSTREAM   6 6.742%
UTR_3_PRIME   3 3.371%


Quality:

	

Insertions and deletions length:

	
Min0
Max3
Mean0.727
Median1
Standard deviation0.57
Values0,1,2,3
Count21,43,1,1


Base changes (SNPs)

  A C G T
A 0 0 0 0
C 0 0 0 0
G 0 0 0 0
T 0 0 0 0


Ts/Tv (transitions / transversions)

Note: Only SNPs are used for this statistic.
Note: This Ts/Tv ratio is a 'raw' ratio (ratio of observed events).

Transitions 0
Transversions 0
Ts/Tv ratio 0

All variants:

No results available (empty input?)

Only known variants (i.e. the ones having a non-empty ID field):

No results available (empty input?)


Allele frequency


Min0
Max0
Mean0
Median0
Standard deviation0
Values0
Count66


Allele Count


Min0
Max0
Mean0
Median0
Standard deviation0
Values0
Count66


Hom/Het per sample




Sample_names , NORMAL, TUMOR
Reference , 0, 0
Het , 0, 0
Hom , 0, 0
Missing , 66, 66


Codon changes

How to read this table:
- Rows are reference codons and columns are changed codons. E.g. Row 'AAA' column 'TAA' indicates how many 'AAA' codons have been replaced by 'TAA' codons.
- Red background colors indicate that more changes happened (heat-map).
- Diagonals are indicated using grey background color
- WARNING: This table may include different translation codon tables (e.g. mamalian DNA and mitochondrial DNA).

  - AAA AAC AGG CCG CGC CGG CTG GAA GAG GAT GCC GCG GGA TGC TTC TTT
-                                  
AAA 2                                
AAC   1                              
AGG 1                                
CCG 3                                
CGC 1                                
CGG                                  
CTG         1 1                      
GAA 2                                
GAG 1                                
GAT                 1                
GCC                         1        
GCG 1                                
GGA             1                    
TGC 1                                
TTC                                 1
TTT                                  


Amino acid changes

How to read this table:
- Rows are reference amino acids and columns are changed amino acids. E.g. Row 'A' column 'E' indicates how many 'A' amino acids have been replaced by 'E' amino acids.
- Red background colors indicate that more changes happened (heat-map).
- Diagonals are indicated using grey background color
- WARNING: This table may include different translation codon tables (e.g. mamalian DNA and mitochondrial DNA).

  - ? A C D E F G K L N P R
-   3                      
?                          
A 1   1                    
C 1                        
D           1              
E 3                        
F             1            
G                         1
K 2                        
L                       1 1
N                 1        
P 3                        
R 2                        


Variants by chromosome

		
21, Position,0,1000000,2000000,3000000,4000000,5000000,6000000,7000000,8000000,9000000,10000000,11000000,12000000,13000000,14000000,15000000,16000000,17000000,18000000,19000000,20000000,21000000,22000000,23000000,24000000,25000000,26000000,27000000,28000000,29000000,30000000,31000000,32000000,33000000,34000000,35000000,36000000,37000000,38000000,39000000,40000000,41000000,42000000,43000000,44000000,45000000,46000000 21,Count,0,0,0,0,0,0,1,0,0,0,2,0,0,0,3,2,0,0,1,0,0,1,0,0,0,2,0,0,2,1,1,5,3,3,1,0,8,6,0,1,1,7,1,2,2,3,7

Details by gene

Here you can find a tab-separated table.