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Agreement

1. In using data, the user must take responsibility for and make judgments concerning the quality, content, and scientific values of the data.
2. The data user must comply with the following rules.
Basic rules to be complied with in using data
- Identification of individuals is prohibited
- Redistribution of data is prohibited.
3. When the research results including the data which were downloaded from MGeND, are published or presented somewhere, the data user must refer the papers which are originally reported, or include in the acknowledgement as follows: The data uses in this research was available at the website of the Medical Genomics Japan Database (MGeND; https://mgend.ncgm.go.jp).

Additional output items: Disease Disease area Data origin
Output format
Genome

* Red letters are a required item.

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Additional items can be included in download data.

"Disease"... Disease (condition) information for each variant provided by the submitter
"Disease area"... Disease area of the submitter(s) and research group
"Data origin"... Analysis type for detecting variant

The description of each column is the following.

Column	Description
Chr	Chromosome
RrID	dbSNP rsID
Start	Start position (1-based coordinate)
End	End position (1-based coordinate)
Ref	Reference allele
Alt	Alternative allele
Gene	Gene symbol
AminoAcid	Gene symbol and amino acid change
HGVS	HGVS
CS	Clinical interpretation provided by the submitter (the representation conformable to ClinVar)
SexMaleNumerator	The number of alternative allele for sex Male
SexMaleDenominator	The number of total for sex Male
SexFemaleNumerator	The number of alternative allele for sex Female
SexFemaleDenominator	The number of total for sex Female
SexMixedGenderNumerator	The number of alternative allele for sex Mixed gender
SexMixedGenderDenominator	The number of total for sex Mixed gender
SexUnknownNumerator	The number of alternative allele for sex Unknown
SexUnknownDenominator	The number of total for sex Unknown
SexNotProvidedNumerator	The number of alternative allele for sex Not provided
SexNotProvidedDenominator	The number of total for sex Not provided
Age0_9Numerator	The number of alternative allele for age 0_9
Age0_9Denominator	The number of total for age 0_9
Age10_19Numerator	The number of alternative allele for age 10_19
Age10_19Denominator	The number of total for age 10_19
Age20_29Numerator	The number of alternative allele for age 20_29
Age20_29Denominator	The number of total for age 20_29
Age30_39Numerator	The number of alternative allele for age 30_39
Age30_39Denominator	The number of total for age 30_39
Age40_49Numerator	The number of alternative allele for age 40_49
Age40_49Denominator	The number of total for age 40_49
Age50_59Numerator	The number of alternative allele for age 50_59
Age50_59Denominator	The number of total for age 50_59
Age60_69Numerator	The number of alternative allele for age 60_69
Age60_69Denominator	The number of total for age 60_69
Age70_79Numerator	The number of alternative allele for age 70_79
Age70_79Denominator	The number of total for age 70_79
Age80_89Numerator	The number of alternative allele for age 80_89
Age80_89Denominator	The number of total for age 80_89
Age90_99Numerator	The number of alternative allele for age 90_99
Age90_99Denominator	The number of total for age 90_99
Age100Numerator	The number of alternative allele for age 100_
Age100Denominator	The number of total for age 100_
AgeUnknownNumerator	The number of alternative allele for age Unknown
AgeUnknownDenominator	The number of total for age Unknown
AgeNotProvidedNumerator	The number of alternative allele for age Not provided
AgeNotProvidedDenominator	The number of total for age Not provided
AgeOtherNumerator	The number of alternative allele for age Other
AgeOtherDenominator	The number of total for age Other
AgeChildrenNumerator	The number of alternative allele for age Children
AgeChildrenDenominator	The number of total for age Children
AgeAdolescentsAndYoungAdultsNumerator	The number of alternative allele for age Adolescents and young adults
AgeAdolescentsAndYoungAdultsDenominator	The number of total for age Adolescents and young adults
AgeAdultsNumerator	The number of alternative allele for age Adults
AgeAdultsDenominator	The number of total for age Adults
AgeElderliesNumerator	The number of alternative allele for age Elderlies
AgeElderliesDenominator	The number of total for age Elderlies
AgeOfOnset0_9Numerator	The number of alternative allele for age of onset 0_9
AgeOfOnset0_9Denominator	The number of total for age of onset 0_9
AgeOfOnset10_19Numerator	The number of alternative allele for age of onset 10_19
AgeOfOnset10_19Denominator	The number of total for age of onset 10_19
AgeOfOnset20_29Numerator	The number of alternative allele for age of onset 20_29
AgeOfOnset20_29Denominator	The number of total for age of onset 20_29
AgeOfOnset30_39Numerator	The number of alternative allele for age of onset 30_39
AgeOfOnset30_39Denominator	The number of total for age of onset 30_39
AgeOfOnset40_49Numerator	The number of alternative allele for age of onset 40_49
AgeOfOnset40_49Denominator	The number of total for age of onset 40_49
AgeOfOnset50_59Numerator	The number of alternative allele for age of onset 50_59
AgeOfOnset50_59Denominator	The number of total for age of onset 50_59
AgeOfOnset60_69Numerator	The number of alternative allele for age of onset 60_69
AgeOfOnset60_69Denominator	The number of total for age of onset 60_69
AgeOfOnset70_79Numerator	The number of alternative allele for age of onset 70_79
AgeOfOnset70_79Denominator	The number of total for age of onset 70_79
AgeOfOnset80_89Numerator	The number of alternative allele for age of onset 80_89
AgeOfOnset80_89Denominator	The number of total for age of onset 80_89
AgeOfOnset90_99Numerator	The number of alternative allele for age of onset 90_99
AgeOfOnset90_99Denominator	The number of total for age of onset 90_99
AgeOfOnset100Numerator	The number of alternative allele for age of onset 100_
AgeOfOnset100Denominator	The number of total for age of onset 100_
AgeOfOnsetUnknownNumerator	The number of alternative allele for age of onset Unknown
AgeOfOnsetUnknownDenominator	The number of total for age of onset Unknown
AgeOfOnsetNotProvidedNumerator	The number of alternative allele for age of onset Not provided
AgeOfOnsetNotProvidedDenominator	The number of total for age of onset Not provided
AgeOfOnsetOtherNumerator	The number of alternative allele for age of onset Other
AgeOfOnsetOtherDenominator	The number of total for age of onset Other
AgeOfOnsetChildrenNumerator	The number of alternative allele for age of onset Children
AgeOfOnsetChildrenDenominator	The number of total for age of onset Children
AgeOfOnsetAdolescentsAndYoungAdultsNumerator	The number of alternative allele for age of onset Adolescents and young adults
AgeOfOnsetAdolescentsAndYoungAdultsDenominator	The number of total for age of onset Adolescents and young adults
AgeOfOnsetAdultsNumerator	The number of alternative allele for age of onset Adults
AgeOfOnsetAdultsDenominator	The number of total for age of onset Adults
AgeOfOnsetElderliesNumerator	The number of alternative allele for age of onset Elderlies
AgeOfOnsetElderliesDenominator	The number of total for age of onset Elderlies

Column	Description
CodeType	Code type for condition (OMIM, MeSH, MedGen, Orphanet, HPO)
CodeValue	Code value for "code_type" (Phenotypic Series Number for OMIM,UniqueID for MeSH, UID for MedGen, OrphaNumber for Orphanet, HPO ID for HPO)
ConditionIDType	Condition ID type (ICD10)
ConditionIDValue	Condition ID value (ICD10 code with WHO representation)
PreferredConditionName	Preferred condition name (free format)
DiseaseName	Disease name assigned in MGeND

Column	Description
DiseaseArea1	Disease area of the submitter (Cancer, Rare/Intractable diseases, Infectious diseases, Dementia, Hearing loss, Others)
DiseaseArea2	Category for Cancer (Somatic or Germline)

Column	Description
DataOrigin	"Variant" means the variant detected by sequence analysis, such as NGS, "GWAS" means detected by GWAS analysis