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Output - ID (Insertions and Deletions)

This page provides detailed information about Insertion and Deletion (ID/Indel) output files.

Overview

ID matrices classify small insertions and deletions based on size, sequence context, and repeat/microhomology status.

Output Files

File # of Sequences Description
test.ID28.all 28 Basic indel classification
test.ID83.all 83 Extended classification
test.ID415.all 415 With TSB categories
test.ID8628.all 8628 Complete sequence information

ID-28

The ID28 file provides basic classification of insertions and deletions.

Categories

Category Description Rows
1:Del:C:0-5 1bp deletion of C in homopolymer length 0-5+ 6
1:Del:T:0-5 1bp deletion of T in homopolymer length 0-5+ 6
1:Ins:C:0-5 1bp insertion of C in homopolymer length 0-5+ 6
1:Ins:T:0-5 1bp insertion of T in homopolymer length 0-5+ 6
long_Del >1bp deletions at repeat regions 1
long_Ins >1bp insertions at repeat regions 1
MH Microhomology-mediated deletions 1
complex Complex indels 1

Example: 1:Del:C:3 corresponds to a deletion of C in a sequence N[C]CCCN (homopolymer of 4 C's).


ID-83

ID-83 extends ID-28 by further categorizing repeat and microhomology indels.

Long Deletions/Insertions at Repeats

ID-28 Category ID-83 Categories
long_Del 2:Del:R:0-5, 3:Del:R:0-5, 4:Del:R:0-5, 5:Del:R:0-5
long_Ins 2:Ins:R:0-5, 3:Ins:R:0-5, 4:Ins:R:0-5, 5:Ins:R:0-5

Microhomology

ID-28 Category ID-83 Categories
MH 2:Del:M:1-5, 3:Del:M:1-5, 4:Del:M:1-5, 5:Del:M:1-5

Notation: - X:Del:R:Y = Deletion of length X at repeat with Y repeat units - X:Del:M:Y = Deletion of length X with Y bp microhomology

Example: 1:Del:C:1 corresponds to a deletion of C in sequence N[C]CN.


ID-415

ID-415 categorizes each ID-83 category into 5 transcriptional strand bias categories.

Calculation: 83 × 5 = 415 combinations

TSB Categories

Category Description
T Transcribed strand
U Untranscribed strand
N Non-transcribed
B Bidirectional
Q Questionable

Example: T:1:Del:C:5 corresponds to a deletion of C in homopolymer CCCCCC on the transcribed strand.


ID-8628

ID-8628 provides complete information about the indel sequence for indels at repetitive regions with length less than 6bp.

Format

Pattern Description
2:Del:TA:5 Deletion of length 2 with sequence TC or GA (reverse complement)
5:Ins:CCATC:2 Insertion of length 5 with sequence CCATC at 2 repeat units

This extended classification allows for more precise analysis of indel patterns.


File Extensions

Extension Description
.all All mutations (default)
.exome Mutations mapped to exome regions
.region Mutations mapped to custom BED file regions
.chrX Chromosome-specific mutations