VAnDa: Variant Annotation Dashboard

Variant annotation server with advanced query builder

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Overview

The Advanced Query Builder allows you to create complex filtering conditions on your annotated variant data. It supports logical operators (AND, OR, NOT), parenthetical grouping, and a wide range of comparison operators.

Key Features

  • Groups (Parentheses): Group multiple conditions together and evaluate them as a unit
  • AND/OR per condition: Each condition has its own logical operator connecting it to the previous condition
  • NOT checkbox: Negate any individual condition
  • Multiple Groups: Combine groups with AND or OR logic
  • All fields available: Filter on any column in your variant data

Getting Started

1. Adding a Condition

Each query starts with a Group containing at least one Condition. A condition consists of:

WHERE [Field] [Operator] [Value] [NOT]
Field
The column to filter on (e.g., SYMBOL, IMPACT, CADD_PHRED)
Operator
How to compare (contains, equals, >, <, etc.)
Value
The value to compare against
NOT
Check to negate the condition

2. Adding More Conditions

Click to add another condition within the same group. Use the AND/OR dropdown to specify how it connects to the previous condition.

3. Adding Groups (Parentheses)

Click to create a new parenthetical group. When multiple groups exist, use the Groups combined with selector to choose AND or OR between groups.

Operators Reference

Operator Symbol Description Example
contains Field contains the value (case-insensitive substring match) SYMBOL contains "BRCA" → matches BRCA1, BRCA2
equals = Field exactly matches the value IMPACT equals "HIGH"
starts with Field starts with the value SYMBOL starts with "BR"
ends with Field ends with the value Consequence ends with "variant"
> > Numeric greater than CADD_PHRED > 20
< < Numeric less than gnomADe_AF < 0.01
>= Numeric greater than or equal POS >= 1000000
<= Numeric less than or equal CADD_PHRED <= 15

Logic Examples

Example 1: Simple AND

Find HIGH impact variants in the BRCA1 gene:

Group 1:
SYMBOL equals "BRCA1"
AND IMPACT equals "HIGH"

Both conditions must be true for a variant to match.

Example 2: Simple OR

Find variants that are either HIGH impact OR have CADD score > 20:

Group 1:
IMPACT equals "HIGH"
OR CADD_PHRED > 20

Either condition being true is sufficient to match.

Example 3: Using NOT

Find coding variants that are NOT synonymous:

Group 1:
Consequence contains "variant"
AND Consequence equals "synonymous_variant" ☑ NOT

The NOT checkbox inverts the condition.

Example 4: Using Groups (Advanced)

Find (HIGH impact BRCA1/BRCA2 variants) OR (any variant with CADD > 25):

Groups combined with: OR

Group 1:
IMPACT equals "HIGH"
AND SYMBOL contains "BRCA"

Group 2:
CADD_PHRED > 25

Group 1 AND Group 2 are combined with OR at the top level.

Logical equivalent: (IMPACT = "HIGH" AND SYMBOL contains "BRCA") OR (CADD_PHRED > 25)

Available Fields

Variant Identification

  • CHROM - Chromosome
  • POS - Position
  • ID - Variant ID
  • REF - Reference allele
  • ALT - Alternate allele
  • QUAL - Quality score
  • FILTER - Filter status

Functional Annotation

  • Consequence - Variant consequence
  • IMPACT - Impact level (HIGH/MODERATE/LOW/MODIFIER)
  • SYMBOL - Gene symbol
  • Gene - Ensembl Gene ID

Pathogenicity Scores

  • CADD_PHRED - CADD Phred score
  • phyloP100way_vertebrate - Conservation score

Population Frequencies

  • gnomADe_AF - gnomAD exome allele frequency
  • dbNSFP_POPMAX_AF - Maximum population AF

Clinical & Disease

  • ClinVar_CLNSIG - Clinical significance
  • ClinVar_CLNDISDB - ClinVar disease database
  • Cancer - Cancer annotation (COSMIC)
  • Cancer_TIER - Cancer tier classification
  • Disease_description - Disease description
  • Orphanet_disorder - Orphanet disorder name
  • Orphanet_id - Orphanet ID

Phenotype & HPO

  • HPO_id - HPO term IDs
  • HPO_name - HPO term names
  • HPO_Categories - HPO disease categories
  • OMIM_id - OMIM ID
  • MIM_disease - MIM disease description

Tips & Best Practices