22-29121016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121016
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121016
    reference: chr 22
allele count: 12
allele frequency: 9.888588568791614e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.670C>T
  hgvsp: ENSP00000372023.2:p.Arg224Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5543C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.541C>T
  hgvsp: ENSP00000329012.5:p.Arg181Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*521C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-123C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.541C>T
  hgvsp: ENSP00000385747.1:p.Arg181Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.541C>T
  hgvsp: ENSP00000386087.1:p.Arg181Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.634C>T
  hgvsp: ENSP00000408065.1:p.Arg212Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5543C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-237C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.541C>T
  hgvsp: ENSP00000402225.1:p.Arg181Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.445-105C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.541C>T
  hgvsp: ENSP00000404400.1:p.Arg181Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.541C>T
  hgvsp: ENSP00000329178.6:p.Arg181Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9375C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.103C>T
  hgvsp: ENSP00000396903.1:p.Arg35Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.541C>T
  hgvsp: ENSP00000384835.1:p.Arg181Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.445-105C>T
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg224Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-29121018-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121018
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121018
    reference: chr 22
allele count: 4
allele frequency: 3.29614186594591e-5
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.632G>A
  hgvsp: ENSP00000408065.1:p.Arg211His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.101G>A
  hgvsp: ENSP00000396903.1:p.Arg34His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.539G>A
  hgvsp: ENSP00000384835.1:p.Arg180His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5545G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.445-107G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.445-107G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-125G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.445-107G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.539G>A
  hgvsp: ENSP00000386087.1:p.Arg180His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.539G>A
  hgvsp: ENSP00000404400.1:p.Arg180His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-239G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.668G>A
  hgvsp: ENSP00000372023.2:p.Arg223His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.539G>A
  hgvsp: ENSP00000402225.1:p.Arg180His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9373G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*519G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.539G>A
  hgvsp: ENSP00000329012.5:p.Arg180His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5545G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.539G>A
  hgvsp: ENSP00000385747.1:p.Arg180His
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg223His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

22-29121019-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121019
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121019
    reference: chr 22
allele count: 165
allele frequency: 1.359680928208847e-3
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.667C>T
  hgvsp: ENSP00000372023.2:p.Arg223Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.100C>T
  hgvsp: ENSP00000396903.1:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.445-108C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.538C>T
  hgvsp: ENSP00000386087.1:p.Arg180Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.538C>T
  hgvsp: ENSP00000404400.1:p.Arg180Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5546C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.538C>T
  hgvsp: ENSP00000412901.1:p.Arg180Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.538C>T
  hgvsp: ENSP00000329178.6:p.Arg180Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.538C>T
  hgvsp: ENSP00000372007.1:p.Arg180Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.538C>T
  hgvsp: ENSP00000384835.1:p.Arg180Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*518C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.538C>T
  hgvsp: ENSP00000329012.5:p.Arg180Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.631C>T
  hgvsp: ENSP00000408065.1:p.Arg211Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.538C>T
  hgvsp: ENSP00000402225.1:p.Arg180Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-126C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5546C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.538C>T
  hgvsp: ENSP00000385747.1:p.Arg180Cys
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg223Cys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

22-29121023-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121023
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121023
    reference: chr 22
allele count: 3
allele frequency: 2.471984179301253e-5
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-244A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5550A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*514A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.534A>G
  hgvsp: ENST00000402731.1:c.534A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.534A>G
  hgvsp: ENST00000405598.1:c.534A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.534A>G
  hgvsp: ENST00000416671.1:c.534A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.663A>G
  hgvsp: ENST00000382580.2:c.663A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-130A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.534A>G
  hgvsp: ENST00000404276.1:c.534A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.534A>G
  hgvsp: ENST00000348295.3:c.534A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.627A>G
  hgvsp: ENST00000439200.1:c.627A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.534A>G
  hgvsp: ENST00000382566.1:c.534A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.534A>G
  hgvsp: ENST00000328354.6:c.534A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.534A>G
  hgvsp: ENST00000433728.1:c.534A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5550A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.96A>G
  hgvsp: ENST00000439346.1:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.445-112A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.534A>G
  hgvsp: ENST00000417588.1:c.534A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.445-112A>G
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly221Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

22-29121023-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121023
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121023
    reference: chr 22
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.534A>C
  hgvsp: ENST00000417588.1:c.534A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.534A>C
  hgvsp: ENST00000433728.1:c.534A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.445-112A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.534A>C
  hgvsp: ENST00000382566.1:c.534A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*514A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.534A>C
  hgvsp: ENST00000348295.3:c.534A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.627A>C
  hgvsp: ENST00000439200.1:c.627A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.534A>C
  hgvsp: ENST00000402731.1:c.534A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.534A>C
  hgvsp: ENST00000404276.1:c.534A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.534A>C
  hgvsp: ENST00000328354.6:c.534A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.534A>C
  hgvsp: ENST00000405598.1:c.534A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.534A>C
  hgvsp: ENST00000416671.1:c.534A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-244A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.96A>C
  hgvsp: ENST00000439346.1:c.96A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5550A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.663A>C
  hgvsp: ENST00000382580.2:c.663A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5550A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9368A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.445-112A>C
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly221Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

22-29121032-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121032
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121033
    reference: chr 22
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5560dupT
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.86dupT
  hgvsp: ENSP00000396903.1:p.Gly30ArgfsTer10
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*504dupT
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.617dupT
  hgvsp: ENSP00000408065.1:p.Gly207ArgfsTer10
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.524dupT
  hgvsp: ENSP00000412901.1:p.Gly176ArgfsTer10
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5560dupT
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.524dupT
  hgvsp: ENSP00000329178.6:p.Gly176ArgfsTer10
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.524dupT
  hgvsp: ENSP00000402225.1:p.Gly176ArgfsTer10
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.653dupT
  hgvsp: ENSP00000372023.2:p.Gly219ArgfsTer10
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.524dupT
  hgvsp: ENSP00000384835.1:p.Gly176ArgfsTer10
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.524dupT
  hgvsp: ENSP00000329012.5:p.Gly176ArgfsTer10
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.524dupT
  hgvsp: ENSP00000404400.1:p.Gly176ArgfsTer10
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9358dupT
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.524dupT
  hgvsp: ENSP00000372007.1:p.Gly176ArgfsTer10
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.445-122dupT
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.524dupT
  hgvsp: ENSP00000385747.1:p.Gly176ArgfsTer10
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.524dupT
  hgvsp: ENSP00000386087.1:p.Gly176ArgfsTer10
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-140dupT
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.445-122dupT
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly219ArgfsTer10
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/22-29121049-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121049
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121048
    reference: chr 22
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.445-139delT
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5577delT
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.507delT
  hgvsp: ENSP00000385747.1:p.Phe169LeufsTer2
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.507delT
  hgvsp: ENSP00000384835.1:p.Phe169LeufsTer2
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-157delT
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.69delT
  hgvsp: ENSP00000396903.1:p.Phe23LeufsTer2
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.507delT
  hgvsp: ENSP00000329178.6:p.Phe169LeufsTer2
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.636delT
  hgvsp: ENSP00000372023.2:p.Phe212LeufsTer2
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5577delT
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.600delT
  hgvsp: ENSP00000408065.1:p.Phe200LeufsTer2
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.507delT
  hgvsp: ENSP00000329012.5:p.Phe169LeufsTer2
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.507delT
  hgvsp: ENSP00000372007.1:p.Phe169LeufsTer2
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.507delT
  hgvsp: ENSP00000404400.1:p.Phe169LeufsTer2
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.507delT
  hgvsp: ENSP00000402225.1:p.Phe169LeufsTer2
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.507delT
  hgvsp: ENSP00000412901.1:p.Phe169LeufsTer2
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.507delT
  hgvsp: ENSP00000386087.1:p.Phe169LeufsTer2
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.445-139delT
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.445-139delT
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*487delT
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe212LeufsTer2
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: CA
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

22-29121057-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121057
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121057
    reference: chr 22
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.62G>A
  hgvsp: ENSP00000396903.1:p.Gly21Glu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.500G>A
  hgvsp: ENSP00000329012.5:p.Gly167Glu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.593G>A
  hgvsp: ENSP00000408065.1:p.Gly198Glu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5584G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.500G>A
  hgvsp: ENSP00000386087.1:p.Gly167Glu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-278G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.500G>A
  hgvsp: ENSP00000404400.1:p.Gly167Glu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.500G>A
  hgvsp: ENSP00000412901.1:p.Gly167Glu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-164G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.445-146G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9334G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.500G>A
  hgvsp: ENSP00000384835.1:p.Gly167Glu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.500G>A
  hgvsp: ENSP00000402225.1:p.Gly167Glu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.629G>A
  hgvsp: ENSP00000372023.2:p.Gly210Glu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*480G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.500G>A
  hgvsp: ENSP00000385747.1:p.Gly167Glu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5584G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.500G>A
  hgvsp: ENSP00000372007.1:p.Gly167Glu
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly210Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

22-29121058-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121058
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121058
    reference: chr 22
allele count: 5
allele frequency: 4.119769952045878e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.499G>A
  hgvsp: ENSP00000329178.6:p.Gly167Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.628G>A
  hgvsp: ENSP00000372023.2:p.Gly210Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.499G>A
  hgvsp: ENSP00000372007.1:p.Gly167Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.445-147G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-279G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5585G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.592G>A
  hgvsp: ENSP00000408065.1:p.Gly198Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*479G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.61G>A
  hgvsp: ENSP00000396903.1:p.Gly21Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.499G>A
  hgvsp: ENSP00000384835.1:p.Gly167Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.499G>A
  hgvsp: ENSP00000412901.1:p.Gly167Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.499G>A
  hgvsp: ENSP00000329012.5:p.Gly167Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.499G>A
  hgvsp: ENSP00000386087.1:p.Gly167Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.499G>A
  hgvsp: ENSP00000385747.1:p.Gly167Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.445-147G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.499G>A
  hgvsp: ENSP00000404400.1:p.Gly167Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.445-147G>A
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly210Arg
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

22-29121059-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121059
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121059
    reference: chr 22
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.591T>C
  hgvsp: ENST00000439200.1:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*478T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.498T>C
  hgvsp: ENST00000382566.1:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.498T>C
  hgvsp: ENST00000328354.6:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.498T>C
  hgvsp: ENST00000417588.1:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9332T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.445-148T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.498T>C
  hgvsp: ENST00000416671.1:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.498T>C
  hgvsp: ENST00000404276.1:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.627T>C
  hgvsp: ENST00000382580.2:c.627T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.60T>C
  hgvsp: ENST00000439346.1:c.60T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.445-148T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5586T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.498T>C
  hgvsp: ENST00000433728.1:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.498T>C
  hgvsp: ENST00000348295.3:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.498T>C
  hgvsp: ENST00000402731.1:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5586T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-166T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.445-148T>C
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn209Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

22-29121068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121068
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121068
    reference: chr 22
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.489C>T
  hgvsp: ENST00000328354.6:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.489C>T
  hgvsp: ENST00000382566.1:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.489C>T
  hgvsp: ENST00000405598.1:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.51C>T
  hgvsp: ENST00000439346.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.489C>T
  hgvsp: ENST00000404276.1:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.489C>T
  hgvsp: ENST00000348295.3:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.489C>T
  hgvsp: ENST00000417588.1:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5595C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.489C>T
  hgvsp: ENST00000433728.1:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.489C>T
  hgvsp: ENST00000402731.1:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.489C>T
  hgvsp: ENST00000416671.1:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.582C>T
  hgvsp: ENST00000439200.1:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.618C>T
  hgvsp: ENST00000382580.2:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*469C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9323C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5595C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-175C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-289C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.445-157C>T
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His206His
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

22-29121069-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121069
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121069
    reference: chr 22
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.445-158A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.488A>G
  hgvsp: ENSP00000329178.6:p.His163Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.488A>G
  hgvsp: ENSP00000329012.5:p.His163Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.488A>G
  hgvsp: ENSP00000412901.1:p.His163Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.488A>G
  hgvsp: ENSP00000386087.1:p.His163Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-290A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.445-158A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.488A>G
  hgvsp: ENSP00000384835.1:p.His163Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.488A>G
  hgvsp: ENSP00000404400.1:p.His163Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*468A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.581A>G
  hgvsp: ENSP00000408065.1:p.His194Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.50A>G
  hgvsp: ENSP00000396903.1:p.His17Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.488A>G
  hgvsp: ENSP00000372007.1:p.His163Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.617A>G
  hgvsp: ENSP00000372023.2:p.His206Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.445-158A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5596A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-176A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.488A>G
  hgvsp: ENSP00000402225.1:p.His163Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5596A>G
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His206Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

22-29121071-ATCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121071
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121068
    reference: chr 22
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5601_320-5599delAGA
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.483_485delAGA
  hgvsp: ENSP00000384835.1:p.Glu161del
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.483_485delAGA
  hgvsp: ENSP00000386087.1:p.Glu161del
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9317_319+9319delAGA
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+157_444+159delAGA
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.513_515delAGA
  hgvsp: ENSP00000381099.2:p.Glu171del
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.45_47delAGA
  hgvsp: ENSP00000396903.1:p.Glu15del
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.483_485delAGA
  hgvsp: ENSP00000404400.1:p.Glu161del
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.483_485delAGA
  hgvsp: ENSP00000412901.1:p.Glu161del
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.576_578delAGA
  hgvsp: ENSP00000408065.1:p.Glu192del
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.483_485delAGA
  hgvsp: ENSP00000385747.1:p.Glu161del
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+157_444+159delAGA
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+157_444+159delAGA
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-181_-179delAGA
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.483_485delAGA
  hgvsp: ENSP00000402225.1:p.Glu161del
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.483_485delAGA
  hgvsp: ENSP00000329012.5:p.Glu161del
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.483_485delAGA
  hgvsp: ENSP00000372007.1:p.Glu161del
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.612_614delAGA
  hgvsp: ENSP00000372023.2:p.Glu204del
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-295_-293delAGA
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu204del
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: ATCT
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-29121072-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121072
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121072
    reference: chr 22
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.485A>G
  hgvsp: ENSP00000372007.1:p.Asp162Gly
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+159A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.47A>G
  hgvsp: ENSP00000396903.1:p.Asp16Gly
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.515A>G
  hgvsp: ENSP00000381099.2:p.Asp172Gly
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.485A>G
  hgvsp: ENSP00000385747.1:p.Asp162Gly
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5599A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.485A>G
  hgvsp: ENSP00000329178.6:p.Asp162Gly
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.485A>G
  hgvsp: ENSP00000386087.1:p.Asp162Gly
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.485A>G
  hgvsp: ENSP00000384835.1:p.Asp162Gly
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*465A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.485A>G
  hgvsp: ENSP00000402225.1:p.Asp162Gly
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-179A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.614A>G
  hgvsp: ENSP00000372023.2:p.Asp205Gly
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.578A>G
  hgvsp: ENSP00000408065.1:p.Asp193Gly
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+159A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.485A>G
  hgvsp: ENSP00000412901.1:p.Asp162Gly
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.485A>G
  hgvsp: ENSP00000329012.5:p.Asp162Gly
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-293A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.485A>G
  hgvsp: ENSP00000404400.1:p.Asp162Gly
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp205Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

22-29121077-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121077
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121077
    reference: chr 22
allele count: 20
allele frequency: 1.648016612007449e-4
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.480A>G
  hgvsp: ENSP00000404400.1:p.Ile160Met
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.480A>G
  hgvsp: ENSP00000329178.6:p.Ile160Met
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.609A>G
  hgvsp: ENSP00000372023.2:p.Ile203Met
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.480A>G
  hgvsp: ENSP00000384835.1:p.Ile160Met
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.480A>G
  hgvsp: ENSP00000329012.5:p.Ile160Met
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.573A>G
  hgvsp: ENSP00000408065.1:p.Ile191Met
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-298A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.480A>G
  hgvsp: ENSP00000402225.1:p.Ile160Met
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.480A>G
  hgvsp: ENSP00000412901.1:p.Ile160Met
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.510A>G
  hgvsp: ENSP00000381099.2:p.Ile170Met
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.480A>G
  hgvsp: ENSP00000386087.1:p.Ile160Met
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.480A>G
  hgvsp: ENSP00000385747.1:p.Ile160Met
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.42A>G
  hgvsp: ENSP00000396903.1:p.Ile14Met
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-184A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5604A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9314A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+154A>G
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile203Met
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/22-29121078-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121078
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121078
    reference: chr 22
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.479T>G
  hgvsp: ENSP00000412901.1:p.Ile160Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9313T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.479T>G
  hgvsp: ENSP00000402225.1:p.Ile160Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.479T>G
  hgvsp: ENSP00000385747.1:p.Ile160Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.509T>G
  hgvsp: ENSP00000381099.2:p.Ile170Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.479T>G
  hgvsp: ENSP00000384835.1:p.Ile160Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.479T>G
  hgvsp: ENSP00000404400.1:p.Ile160Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.479T>G
  hgvsp: ENSP00000386087.1:p.Ile160Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+153T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+153T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5605T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.41T>G
  hgvsp: ENSP00000396903.1:p.Ile14Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.572T>G
  hgvsp: ENSP00000408065.1:p.Ile191Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-185T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-299T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+153T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.479T>G
  hgvsp: ENSP00000329178.6:p.Ile160Arg
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile203Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

22-29121078-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121078
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121078
    reference: chr 22
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5605T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-299T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.41T>C
  hgvsp: ENSP00000396903.1:p.Ile14Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.479T>C
  hgvsp: ENSP00000386087.1:p.Ile160Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.608T>C
  hgvsp: ENSP00000372023.2:p.Ile203Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-185T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.479T>C
  hgvsp: ENSP00000402225.1:p.Ile160Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.479T>C
  hgvsp: ENSP00000404400.1:p.Ile160Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+153T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.479T>C
  hgvsp: ENSP00000384835.1:p.Ile160Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.479T>C
  hgvsp: ENSP00000329178.6:p.Ile160Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.509T>C
  hgvsp: ENSP00000381099.2:p.Ile170Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.572T>C
  hgvsp: ENSP00000408065.1:p.Ile191Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.479T>C
  hgvsp: ENSP00000385747.1:p.Ile160Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.479T>C
  hgvsp: ENSP00000372007.1:p.Ile160Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5605T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+153T>C
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile203Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum

22-29121082-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121082
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121082
    reference: chr 22
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+149T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.475T>C
  hgvsp: ENSP00000386087.1:p.Tyr159His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.37T>C
  hgvsp: ENSP00000396903.1:p.Tyr13His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.475T>C
  hgvsp: ENSP00000404400.1:p.Tyr159His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+149T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.604T>C
  hgvsp: ENSP00000372023.2:p.Tyr202His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5609T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.475T>C
  hgvsp: ENSP00000384835.1:p.Tyr159His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.475T>C
  hgvsp: ENSP00000385747.1:p.Tyr159His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.568T>C
  hgvsp: ENSP00000408065.1:p.Tyr190His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+149T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9309T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-303T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.475T>C
  hgvsp: ENSP00000372007.1:p.Tyr159His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.475T>C
  hgvsp: ENSP00000402225.1:p.Tyr159His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.475T>C
  hgvsp: ENSP00000329012.5:p.Tyr159His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.475T>C
  hgvsp: ENSP00000329178.6:p.Tyr159His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5609T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.475T>C
  hgvsp: ENSP00000412901.1:p.Tyr159His
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr202His
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-29121083-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121083
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121083
    reference: chr 22
allele count: 6
allele frequency: 4.944375772558714e-5
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.36A>C
  hgvsp: ENST00000439346.1:c.36A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.567A>C
  hgvsp: ENST00000439200.1:c.567A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+148A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*454A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.603A>C
  hgvsp: ENST00000382580.2:c.603A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.474A>C
  hgvsp: ENST00000382566.1:c.474A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.474A>C
  hgvsp: ENST00000404276.1:c.474A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+148A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-190A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.474A>C
  hgvsp: ENST00000328354.6:c.474A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.504A>C
  hgvsp: ENST00000398017.2:c.504A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.474A>C
  hgvsp: ENST00000417588.1:c.474A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.474A>C
  hgvsp: ENST00000433728.1:c.474A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.474A>C
  hgvsp: ENST00000405598.1:c.474A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.474A>C
  hgvsp: ENST00000402731.1:c.474A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9308A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.474A>C
  hgvsp: ENST00000416671.1:c.474A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5610A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5610A>C
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala201Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

22-29121085-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121085
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121085
    reference: chr 22
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*452G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.472G>A
  hgvsp: ENSP00000384835.1:p.Ala158Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.472G>A
  hgvsp: ENSP00000412901.1:p.Ala158Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.502G>A
  hgvsp: ENSP00000381099.2:p.Ala168Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+146G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.601G>A
  hgvsp: ENSP00000372023.2:p.Ala201Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.34G>A
  hgvsp: ENSP00000396903.1:p.Ala12Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.472G>A
  hgvsp: ENSP00000402225.1:p.Ala158Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.472G>A
  hgvsp: ENSP00000385747.1:p.Ala158Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.472G>A
  hgvsp: ENSP00000329012.5:p.Ala158Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.472G>A
  hgvsp: ENSP00000404400.1:p.Ala158Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.565G>A
  hgvsp: ENSP00000408065.1:p.Ala189Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.472G>A
  hgvsp: ENSP00000329178.6:p.Ala158Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.472G>A
  hgvsp: ENSP00000386087.1:p.Ala158Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9306G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+146G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-192G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5612G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5612G>A
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala201Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

22-29121087-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121087
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121087
    reference: chr 22
allele count: 497
allele frequency: 4.095591264936136e-3
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.470T>C
  hgvsp: ENSP00000402225.1:p.Ile157Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*450T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.470T>C
  hgvsp: ENSP00000404400.1:p.Ile157Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-194T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.32T>C
  hgvsp: ENSP00000396903.1:p.Ile11Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.470T>C
  hgvsp: ENSP00000372007.1:p.Ile157Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.599T>C
  hgvsp: ENSP00000372023.2:p.Ile200Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9304T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.470T>C
  hgvsp: ENSP00000386087.1:p.Ile157Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5614T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.470T>C
  hgvsp: ENSP00000412901.1:p.Ile157Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.563T>C
  hgvsp: ENSP00000408065.1:p.Ile188Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.470T>C
  hgvsp: ENSP00000384835.1:p.Ile157Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+144T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.470T>C
  hgvsp: ENSP00000385747.1:p.Ile157Thr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5614T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.470T>C
  hgvsp: ENSP00000329178.6:p.Ile157Thr
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile200Thr
num of homozygotes: 6
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

22-29121088-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121088
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121088
    reference: chr 22
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*449A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+143A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+143A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+143A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.469A>G
  hgvsp: ENSP00000386087.1:p.Ile157Val
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.469A>G
  hgvsp: ENSP00000384835.1:p.Ile157Val
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-309A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-195A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.469A>G
  hgvsp: ENSP00000372007.1:p.Ile157Val
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.598A>G
  hgvsp: ENSP00000372023.2:p.Ile200Val
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5615A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.469A>G
  hgvsp: ENSP00000404400.1:p.Ile157Val
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.469A>G
  hgvsp: ENSP00000329012.5:p.Ile157Val
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.469A>G
  hgvsp: ENSP00000402225.1:p.Ile157Val
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.562A>G
  hgvsp: ENSP00000408065.1:p.Ile188Val
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.499A>G
  hgvsp: ENSP00000381099.2:p.Ile167Val
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5615A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.469A>G
  hgvsp: ENSP00000329178.6:p.Ile157Val
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.469A>G
  hgvsp: ENSP00000412901.1:p.Ile157Val
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile200Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

22-29121095-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121095
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121095
    reference: chr 22
allele count: 2
allele frequency: 1.648315421639085e-5
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.462C>G
  hgvsp: ENSP00000386087.1:p.Asn154Lys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*442C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.591C>G
  hgvsp: ENSP00000372023.2:p.Asn197Lys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.462C>G
  hgvsp: ENSP00000404400.1:p.Asn154Lys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.555C>G
  hgvsp: ENSP00000408065.1:p.Asn185Lys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.462C>G
  hgvsp: ENSP00000402225.1:p.Asn154Lys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.462C>G
  hgvsp: ENSP00000384835.1:p.Asn154Lys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5622C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.24C>G
  hgvsp: ENSP00000396903.1:p.Asn8Lys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.462C>G
  hgvsp: ENSP00000385747.1:p.Asn154Lys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+136C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-202C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.462C>G
  hgvsp: ENSP00000372007.1:p.Asn154Lys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+136C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.462C>G
  hgvsp: ENSP00000412901.1:p.Asn154Lys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.492C>G
  hgvsp: ENSP00000381099.2:p.Asn164Lys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.462C>G
  hgvsp: ENSP00000329012.5:p.Asn154Lys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.462C>G
  hgvsp: ENSP00000329178.6:p.Asn154Lys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+136C>G
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn197Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

22-29121101-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121101
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121101
    reference: chr 22
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.456T>C
  hgvsp: ENST00000348295.3:c.456T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.456T>C
  hgvsp: ENST00000382566.1:c.456T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.456T>C
  hgvsp: ENST00000402731.1:c.456T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5628T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+130T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.456T>C
  hgvsp: ENST00000328354.6:c.456T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.456T>C
  hgvsp: ENST00000416671.1:c.456T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.456T>C
  hgvsp: ENST00000404276.1:c.456T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.549T>C
  hgvsp: ENST00000439200.1:c.549T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.456T>C
  hgvsp: ENST00000433728.1:c.456T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-322T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.585T>C
  hgvsp: ENST00000382580.2:c.585T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.456T>C
  hgvsp: ENST00000405598.1:c.456T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+130T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9290T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.18T>C
  hgvsp: ENST00000439346.1:c.18T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5628T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.486T>C
  hgvsp: ENST00000398017.2:c.486T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-208T>C
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro195Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/22-29121106-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121106
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121106
    reference: chr 22
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.451G>T
  hgvsp: ENSP00000329178.6:p.Gly151Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.451G>T
  hgvsp: ENSP00000384835.1:p.Gly151Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5633G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.580G>T
  hgvsp: ENSP00000372023.2:p.Gly194Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.451G>T
  hgvsp: ENSP00000385747.1:p.Gly151Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-327G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.544G>T
  hgvsp: ENSP00000408065.1:p.Gly182Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.451G>T
  hgvsp: ENSP00000386087.1:p.Gly151Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.451G>T
  hgvsp: ENSP00000412901.1:p.Gly151Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.451G>T
  hgvsp: ENSP00000402225.1:p.Gly151Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5633G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.481G>T
  hgvsp: ENSP00000381099.2:p.Gly161Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*431G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.13G>T
  hgvsp: ENSP00000396903.1:p.Gly5Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.451G>T
  hgvsp: ENSP00000372007.1:p.Gly151Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.451G>T
  hgvsp: ENSP00000404400.1:p.Gly151Cys
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+125G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+125G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9285G>T
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly194Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

22-29121107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121107
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121107
    reference: chr 22
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.450G>A
  hgvsp: ENST00000328354.6:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.450G>A
  hgvsp: ENST00000404276.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.543G>A
  hgvsp: ENST00000439200.1:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.450G>A
  hgvsp: ENST00000402731.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.450G>A
  hgvsp: ENST00000405598.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.480G>A
  hgvsp: ENST00000398017.2:c.480G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.12G>A
  hgvsp: ENST00000439346.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.579G>A
  hgvsp: ENST00000382580.2:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*430G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.450G>A
  hgvsp: ENST00000348295.3:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5634G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-214G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+124G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9284G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.450G>A
  hgvsp: ENST00000417588.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-328G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+124G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+124G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.450G>A
  hgvsp: ENST00000433728.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val193Val
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

22-29121136-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121136
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121136
    reference: chr 22
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-333-24G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.574-24G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.445-24G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9255G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.445-24G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+95G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.445-24G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+95G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.445-24G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.445-24G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.445-24G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.538-24G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.445-24G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5663G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.7-24G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.475-24G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5663G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-219-24G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+95G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.445-24G>C
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

22-29121142-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121142
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121142
    reference: chr 22
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5669A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.445-30A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.475-30A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.445-30A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5669A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.445-30A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.445-30A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-219-30A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9249A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.574-30A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.445-30A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-333-30A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.445-30A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+89A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.538-30A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+89A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.445-30A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.445-30A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.7-30A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+89A>G
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-29121143-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121143
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121143
    reference: chr 22
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+88A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-333-31A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.445-31A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.7-31A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.445-31A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.475-31A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.445-31A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.538-31A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5670A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.574-31A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.445-31A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-219-31A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.445-31A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.445-31A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9248A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+88A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5670A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+88A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.445-31A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.445-31A>G
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

22-29121154-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121154
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121154
    reference: chr 22
allele count: 2
allele frequency: 1.649647800194658e-5
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.445-42C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.445-42C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.445-42C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.538-42C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-333-42C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9237C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.445-42C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-219-42C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+77C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5681C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.445-42C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5681C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*425-42C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+77C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+77C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.475-42C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.574-42C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.445-42C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.7-42C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.445-42C>A
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

22-29121162-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121162
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121162
    reference: chr 22
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*425-50C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.445-50C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.475-50C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.445-50C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.445-50C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-219-50C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.445-50C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+69C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+69C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.445-50C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.445-50C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.445-50C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.574-50C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+69C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.445-50C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-333-50C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.538-50C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.7-50C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.445-50C>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9229C>G
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

22-29121166-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121166
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121166
    reference: chr 22
allele count: 3
allele frequency: 2.474063566939913e-5
allele num: 121258
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.574-54C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5693C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.7-54C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.445-54C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.445-54C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+65C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.445-54C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.445-54C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.445-54C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.445-54C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.538-54C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+65C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-219-54C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-333-54C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9225C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.445-54C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.445-54C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5693C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*425-54C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.475-54C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+65C>T
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

22-29121173-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121173
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121173
    reference: chr 22
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.444+58A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-334+58A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5700A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.444+58A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-220+58A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9218A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+58A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.444+58A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5700A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.444+58A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.573+58A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.444+58A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.444+58A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.474+58A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+58A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.444+58A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.444+58A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.444+58A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+58A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.6+58A>G
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

22-29121176-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121176
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121176
    reference: chr 22
allele count: 2
allele frequency: 1.649158104787506e-5
allele num: 121274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.444+55T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.444+55T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.444+55T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+55T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-220+55T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.444+55T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+55T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.444+55T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.444+55T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.537+55T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.6+55T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.444+55T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-334+55T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5703T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.444+55T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.573+55T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+55T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5703T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9215T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.474+55T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.444+55T>C
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-29121184-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121184
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121184
    reference: chr 22
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-334+47A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.444+47A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5711A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5711A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+47A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.444+47A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-220+47A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.6+47A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.573+47A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.444+47A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+47A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.444+47A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.444+47A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.444+47A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+47A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.444+47A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.537+47A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.474+47A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.444+47A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.444+47A>C
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

22-29121207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121207
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121207
    reference: chr 22
allele count: 171
allele frequency: 1.408914888357914e-3
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+24C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*424+24C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.444+24C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.444+24C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+24C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-220+24C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.474+24C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.444+24C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.444+24C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.444+24C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.444+24C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5734C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5734C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.573+24C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+24C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.537+24C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.444+24C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.6+24C>T
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/22-29121211-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121211
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121211
    reference: chr 22
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+20G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.474+20G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.444+20G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.444+20G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*424+20G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.537+20G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.444+20G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-220+20G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.444+20G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.444+20G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5738G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-334+20G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.573+20G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9180G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.444+20G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.444+20G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.444+20G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+20G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5738G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.6+20G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+20G>T
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

22-29121212-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121212
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121212
    reference: chr 22
allele count: 35
allele frequency: 2.883791444202755e-4
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.537+19T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.444+19T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.573+19T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-334+19T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.444+19T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.444+19T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+19T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+19T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-220+19T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.444+19T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.444+19T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5739T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.444+19T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.6+19T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.444+19T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5739T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.474+19T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+19T>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9179T>C
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

22-29121213-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121213
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121213
    reference: chr 22
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.444+18A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-334+18A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-220+18A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.573+18A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.444+18A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+18A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+18A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.444+18A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.444+18A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+18A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5740A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9178A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.444+18A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.444+18A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.444+18A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*424+18A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5740A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.474+18A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.444+18A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.444+18A>G
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

22-29121226-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121226
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121226
    reference: chr 22
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.444+5G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.444+5G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5753G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.444+5G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.444+5G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-220+5G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.573+5G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.537+5G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.444+5G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-334+5G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.444+5G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+5G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+5G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.474+5G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+5G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*424+5G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9165G>A
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.573+5G>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/22-29121229-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121229
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121229
    reference: chr 22
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9162T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-334+2T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.444+2T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.573+2T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+2T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.444+2T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+2T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.444+2T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.537+2T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-220+2T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.444+2T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.444+2T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.6+2T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.444+2T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5756T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.474+2T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*424+2T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.444+2T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5756T>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+2T>G
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.573+2T>G
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/22-29121230-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121230
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121230
    reference: chr 22
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*424+1G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.537+1G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.444+1G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-334+1G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000396903
  ensembl transcript: ENST00000439346
  gene symbol: CHEK2
  hgvsc: ENST00000439346.1:c.6+1G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.444+1G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.444+1G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9161G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.474+1G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-220+1G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.444+1G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+1G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5757G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.573+1G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.444+1G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+1G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5757G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.444+1G>T
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.573+1G>T
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

22-29121230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121230
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121230
    reference: chr 22
allele count: 13
allele frequency: 1.071140187531928e-4
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5757G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.444+1G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.444+1G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.444+1G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.573+1G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.444+1G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.444+1G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.444+1G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.444+1G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.444+1G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-220+1G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5757G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.474+1G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9161G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-334+1G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.537+1G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.444+1G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.444+1G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*424+1G>A
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.573+1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-29121239-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121239
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121239
    reference: chr 22
allele count: 3
allele frequency: 2.471984179301253e-5
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.436A>C
  hgvsp: ENSP00000386087.1:p.Ile146Leu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.436A>C
  hgvsp: ENSP00000404567.1:p.Ile146Leu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.436A>C
  hgvsp: ENSP00000402225.1:p.Ile146Leu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.436A>C
  hgvsp: ENSP00000385747.1:p.Ile146Leu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.466A>C
  hgvsp: ENSP00000381099.2:p.Ile156Leu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.436A>C
  hgvsp: ENSP00000397478.1:p.Ile146Leu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.565A>C
  hgvsp: ENSP00000372023.2:p.Ile189Leu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.436A>C
  hgvsp: ENSP00000412901.1:p.Ile146Leu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.436A>C
  hgvsp: ENSP00000384835.1:p.Ile146Leu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.436A>C
  hgvsp: ENSP00000372007.1:p.Ile146Leu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.436A>C
  hgvsp: ENSP00000404400.1:p.Ile146Leu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-342A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.436A>C
  hgvsp: ENSP00000329012.5:p.Ile146Leu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-228A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*416A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.529A>C
  hgvsp: ENSP00000408065.1:p.Ile177Leu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9152A>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.436A>C
  hgvsp: ENSP00000329178.6:p.Ile146Leu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5766A>C
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile189Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/22-29121240-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121240
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121240
    reference: chr 22
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5767G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.435G>T
  hgvsp: ENST00000433728.1:c.435G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.435G>T
  hgvsp: ENST00000404276.1:c.435G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.528G>T
  hgvsp: ENST00000439200.1:c.528G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9151G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.435G>T
  hgvsp: ENST00000402731.1:c.435G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.435G>T
  hgvsp: ENST00000328354.6:c.435G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.465G>T
  hgvsp: ENST00000398017.2:c.465G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.564G>T
  hgvsp: ENST00000382580.2:c.564G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-229G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.435G>T
  hgvsp: ENST00000348295.3:c.435G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.435G>T
  hgvsp: ENST00000416671.1:c.435G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.435G>T
  hgvsp: ENST00000447421.1:c.435G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.435G>T
  hgvsp: ENST00000382566.1:c.435G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.435G>T
  hgvsp: ENST00000405598.1:c.435G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.435G>T
  hgvsp: ENST00000448511.1:c.435G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-343G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.435G>T
  hgvsp: ENST00000433028.2:c.435G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.435G>T
  hgvsp: ENST00000417588.1:c.435G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg188Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

22-29121241-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121241
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121241
    reference: chr 22
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.434G>C
  hgvsp: ENSP00000402225.1:p.Arg145Pro
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*414G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.434G>C
  hgvsp: ENSP00000397478.1:p.Arg145Pro
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.434G>C
  hgvsp: ENSP00000386087.1:p.Arg145Pro
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.434G>C
  hgvsp: ENSP00000372007.1:p.Arg145Pro
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.434G>C
  hgvsp: ENSP00000403659.1:p.Arg145Pro
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.464G>C
  hgvsp: ENSP00000381099.2:p.Arg155Pro
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.434G>C
  hgvsp: ENSP00000404400.1:p.Arg145Pro
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.563G>C
  hgvsp: ENSP00000372023.2:p.Arg188Pro
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.434G>C
  hgvsp: ENSP00000412901.1:p.Arg145Pro
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9150G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.434G>C
  hgvsp: ENSP00000329012.5:p.Arg145Pro
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-344G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.434G>C
  hgvsp: ENSP00000404567.1:p.Arg145Pro
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.434G>C
  hgvsp: ENSP00000385747.1:p.Arg145Pro
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.434G>C
  hgvsp: ENSP00000384835.1:p.Arg145Pro
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5768G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.434G>C
  hgvsp: ENSP00000329178.6:p.Arg145Pro
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5768G>C
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg188Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

22-29121241-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121241
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121241
    reference: chr 22
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.434G>A
  hgvsp: ENSP00000404567.1:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.434G>A
  hgvsp: ENSP00000397478.1:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.434G>A
  hgvsp: ENSP00000402225.1:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.434G>A
  hgvsp: ENSP00000372007.1:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.434G>A
  hgvsp: ENSP00000329178.6:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.434G>A
  hgvsp: ENSP00000329012.5:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5768G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5768G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.527G>A
  hgvsp: ENSP00000408065.1:p.Arg176Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.434G>A
  hgvsp: ENSP00000385747.1:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9150G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.434G>A
  hgvsp: ENSP00000403659.1:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.434G>A
  hgvsp: ENSP00000386087.1:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.563G>A
  hgvsp: ENSP00000372023.2:p.Arg188Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.434G>A
  hgvsp: ENSP00000404400.1:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.434G>A
  hgvsp: ENSP00000412901.1:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*414G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.434G>A
  hgvsp: ENSP00000384835.1:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-230G>A
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg188Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

22-29121242-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121242
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121242
    reference: chr 22
allele count: 4
allele frequency: 3.296087544085171e-5
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.433C>T
  hgvsp: ENSP00000404567.1:p.Arg145Trp
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  clinical significance: not_provided&likely_pathogenic&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.562C>T
  hgvsp: ENSP00000372023.2:p.Arg188Trp
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.433C>T
  hgvsp: ENSP00000372007.1:p.Arg145Trp
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.433C>T
  hgvsp: ENSP00000329012.5:p.Arg145Trp
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.433C>T
  hgvsp: ENSP00000412901.1:p.Arg145Trp
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.433C>T
  hgvsp: ENSP00000404400.1:p.Arg145Trp
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-231C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.463C>T
  hgvsp: ENSP00000381099.2:p.Arg155Trp
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.433C>T
  hgvsp: ENSP00000384835.1:p.Arg145Trp
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.433C>T
  hgvsp: ENSP00000403659.1:p.Arg145Trp
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9149C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.433C>T
  hgvsp: ENSP00000402225.1:p.Arg145Trp
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.433C>T
  hgvsp: ENSP00000386087.1:p.Arg145Trp
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.526C>T
  hgvsp: ENSP00000408065.1:p.Arg176Trp
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-345C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.433C>T
  hgvsp: ENSP00000397478.1:p.Arg145Trp
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5769C>T
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg188Trp
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

22-29121256-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121256
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121256
    reference: chr 22
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.548G>A
  hgvsp: ENSP00000372023.2:p.Ser183Asn
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.419G>A
  hgvsp: ENSP00000386087.1:p.Ser140Asn
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.419G>A
  hgvsp: ENSP00000397478.1:p.Ser140Asn
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5783G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.419G>A
  hgvsp: ENSP00000402225.1:p.Ser140Asn
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.419G>A
  hgvsp: ENSP00000372007.1:p.Ser140Asn
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*399G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-245G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.449G>A
  hgvsp: ENSP00000381099.2:p.Ser150Asn
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.419G>A
  hgvsp: ENSP00000404400.1:p.Ser140Asn
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.419G>A
  hgvsp: ENSP00000404567.1:p.Ser140Asn
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.419G>A
  hgvsp: ENSP00000384835.1:p.Ser140Asn
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.419G>A
  hgvsp: ENSP00000329012.5:p.Ser140Asn
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.419G>A
  hgvsp: ENSP00000412901.1:p.Ser140Asn
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5783G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.512G>A
  hgvsp: ENSP00000408065.1:p.Ser171Asn
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.419G>A
  hgvsp: ENSP00000329178.6:p.Ser140Asn
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9135G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.419G>A
  hgvsp: ENSP00000403659.1:p.Ser140Asn
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser183Asn
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

22-29121265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121265
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121265
    reference: chr 22
allele count: 25
allele frequency: 2.059952868278374e-4
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.539G>A
  hgvsp: ENSP00000372023.2:p.Arg180Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.410G>A
  hgvsp: ENSP00000372007.1:p.Arg137Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-368G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.410G>A
  hgvsp: ENSP00000386087.1:p.Arg137Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.410G>A
  hgvsp: ENSP00000385747.1:p.Arg137Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.410G>A
  hgvsp: ENSP00000403659.1:p.Arg137Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.410G>A
  hgvsp: ENSP00000329178.6:p.Arg137Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5792G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.503G>A
  hgvsp: ENSP00000408065.1:p.Arg168Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.410G>A
  hgvsp: ENSP00000402225.1:p.Arg137Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.410G>A
  hgvsp: ENSP00000329012.5:p.Arg137Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5792G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-254G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.410G>A
  hgvsp: ENSP00000404567.1:p.Arg137Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.410G>A
  hgvsp: ENSP00000384835.1:p.Arg137Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.440G>A
  hgvsp: ENSP00000381099.2:p.Arg147Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9126G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.410G>A
  hgvsp: ENSP00000404400.1:p.Arg137Gln
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg180Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

22-29121266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121266
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121266
    reference: chr 22
allele count: 4
allele frequency: 3.296087544085171e-5
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.409C>T
  hgvsp: ENSP00000384835.1:p.Arg137Ter
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.409C>T
  hgvsp: ENSP00000402225.1:p.Arg137Ter
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-369C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.409C>T
  hgvsp: ENSP00000329178.6:p.Arg137Ter
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.439C>T
  hgvsp: ENSP00000381099.2:p.Arg147Ter
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.409C>T
  hgvsp: ENSP00000385747.1:p.Arg137Ter
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.409C>T
  hgvsp: ENSP00000372007.1:p.Arg137Ter
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.409C>T
  hgvsp: ENSP00000404567.1:p.Arg137Ter
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.409C>T
  hgvsp: ENSP00000412901.1:p.Arg137Ter
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.409C>T
  hgvsp: ENSP00000397478.1:p.Arg137Ter
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.538C>T
  hgvsp: ENSP00000372023.2:p.Arg180Ter
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5793C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5793C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.409C>T
  hgvsp: ENSP00000386087.1:p.Arg137Ter
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.409C>T
  hgvsp: ENSP00000404400.1:p.Arg137Ter
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-255C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.502C>T
  hgvsp: ENSP00000408065.1:p.Arg168Ter
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9125C>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.409C>T
  hgvsp: ENSP00000403659.1:p.Arg137Ter
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg180Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

22-29121275-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121275
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121275
    reference: chr 22
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.400G>C
  hgvsp: ENSP00000402225.1:p.Asp134His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.400G>C
  hgvsp: ENSP00000384835.1:p.Asp134His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5802G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-264G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.400G>C
  hgvsp: ENSP00000397478.1:p.Asp134His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.400G>C
  hgvsp: ENSP00000404400.1:p.Asp134His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.400G>C
  hgvsp: ENSP00000329178.6:p.Asp134His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5802G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.400G>C
  hgvsp: ENSP00000404567.1:p.Asp134His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.400G>C
  hgvsp: ENSP00000329012.5:p.Asp134His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.529G>C
  hgvsp: ENSP00000372023.2:p.Asp177His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.400G>C
  hgvsp: ENSP00000385747.1:p.Asp134His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*380G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-378G>C
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.493G>C
  hgvsp: ENSP00000408065.1:p.Asp165His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.430G>C
  hgvsp: ENSP00000381099.2:p.Asp144His
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.400G>C
  hgvsp: ENSP00000372007.1:p.Asp134His
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp177His
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/22-29121280-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121280
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121280
    reference: chr 22
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.425G>T
  hgvsp: ENSP00000381099.2:p.Arg142Ile
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.395G>T
  hgvsp: ENSP00000372007.1:p.Arg132Ile
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-269G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-383G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*375G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.488G>T
  hgvsp: ENSP00000408065.1:p.Arg163Ile
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.395G>T
  hgvsp: ENSP00000386087.1:p.Arg132Ile
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.395G>T
  hgvsp: ENSP00000385747.1:p.Arg132Ile
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.395G>T
  hgvsp: ENSP00000384835.1:p.Arg132Ile
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.395G>T
  hgvsp: ENSP00000403659.1:p.Arg132Ile
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.524G>T
  hgvsp: ENSP00000372023.2:p.Arg175Ile
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5807G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.395G>T
  hgvsp: ENSP00000404567.1:p.Arg132Ile
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.395G>T
  hgvsp: ENSP00000404400.1:p.Arg132Ile
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.395G>T
  hgvsp: ENSP00000397478.1:p.Arg132Ile
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.395G>T
  hgvsp: ENSP00000329178.6:p.Arg132Ile
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.395G>T
  hgvsp: ENSP00000402225.1:p.Arg132Ile
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5807G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.395G>T
  hgvsp: ENSP00000329012.5:p.Arg132Ile
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg175Ile
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

22-29121286-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121286
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121286
    reference: chr 22
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.389T>A
  hgvsp: ENSP00000384835.1:p.Leu130Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*369T>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.389T>A
  hgvsp: ENSP00000404567.1:p.Leu130Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-275T>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.419T>A
  hgvsp: ENSP00000381099.2:p.Leu140Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.389T>A
  hgvsp: ENSP00000385747.1:p.Leu130Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5813T>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5813T>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.389T>A
  hgvsp: ENSP00000404400.1:p.Leu130Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.389T>A
  hgvsp: ENSP00000386087.1:p.Leu130Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.518T>A
  hgvsp: ENSP00000372023.2:p.Leu173Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.389T>A
  hgvsp: ENSP00000372007.1:p.Leu130Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.389T>A
  hgvsp: ENSP00000329012.5:p.Leu130Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.389T>A
  hgvsp: ENSP00000397478.1:p.Leu130Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.389T>A
  hgvsp: ENSP00000403659.1:p.Leu130Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.389T>A
  hgvsp: ENSP00000402225.1:p.Leu130Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-389T>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.389T>A
  hgvsp: ENSP00000412901.1:p.Leu130Gln
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9105T>A
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu173Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

22-29121291-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121291
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121291
    reference: chr 22
allele count: 3
allele frequency: 2.47239162683369e-5
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*364A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.384A>G
  hgvsp: ENST00000433728.1:c.384A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9100A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.384A>G
  hgvsp: ENST00000417588.1:c.384A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.384A>G
  hgvsp: ENST00000348295.3:c.384A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.384A>G
  hgvsp: ENST00000402731.1:c.384A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.477A>G
  hgvsp: ENST00000439200.1:c.477A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.384A>G
  hgvsp: ENST00000405598.1:c.384A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.384A>G
  hgvsp: ENST00000416671.1:c.384A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.384A>G
  hgvsp: ENST00000382566.1:c.384A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.414A>G
  hgvsp: ENST00000398017.2:c.414A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.384A>G
  hgvsp: ENST00000447421.1:c.384A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.513A>G
  hgvsp: ENST00000382580.2:c.513A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-394A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5818A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-280A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.384A>G
  hgvsp: ENST00000328354.6:c.384A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.384A>G
  hgvsp: ENST00000404276.1:c.384A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5818A>G
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro171Pro
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

22-29121294-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121294
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121294
    reference: chr 22
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.381A>G
  hgvsp: ENST00000382566.1:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.510A>G
  hgvsp: ENST00000382580.2:c.510A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.381A>G
  hgvsp: ENST00000448511.1:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.474A>G
  hgvsp: ENST00000439200.1:c.474A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*361A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.381A>G
  hgvsp: ENST00000433728.1:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.381A>G
  hgvsp: ENST00000348295.3:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.381A>G
  hgvsp: ENST00000416671.1:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.381A>G
  hgvsp: ENST00000405598.1:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5821A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9097A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.381A>G
  hgvsp: ENST00000404276.1:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.381A>G
  hgvsp: ENST00000402731.1:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.411A>G
  hgvsp: ENST00000398017.2:c.411A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.381A>G
  hgvsp: ENST00000328354.6:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.381A>G
  hgvsp: ENST00000417588.1:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5821A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.381A>G
  hgvsp: ENST00000447421.1:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.381A>G
  hgvsp: ENST00000433028.2:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu170Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

22-29121304-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121304
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121304
    reference: chr 22
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.371G>A
  hgvsp: ENSP00000404567.1:p.Cys124Tyr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*351G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.401G>A
  hgvsp: ENSP00000381099.2:p.Cys134Tyr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.371G>A
  hgvsp: ENSP00000403659.1:p.Cys124Tyr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.464G>A
  hgvsp: ENSP00000408065.1:p.Cys155Tyr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.371G>A
  hgvsp: ENSP00000329178.6:p.Cys124Tyr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-293G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.371G>A
  hgvsp: ENSP00000386087.1:p.Cys124Tyr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.371G>A
  hgvsp: ENSP00000384835.1:p.Cys124Tyr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.371G>A
  hgvsp: ENSP00000329012.5:p.Cys124Tyr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.371G>A
  hgvsp: ENSP00000385747.1:p.Cys124Tyr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.371G>A
  hgvsp: ENSP00000402225.1:p.Cys124Tyr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5831G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.371G>A
  hgvsp: ENSP00000404400.1:p.Cys124Tyr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.371G>A
  hgvsp: ENSP00000372007.1:p.Cys124Tyr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.500G>A
  hgvsp: ENSP00000372023.2:p.Cys167Tyr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.371G>A
  hgvsp: ENSP00000412901.1:p.Cys124Tyr
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9087G>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-407G>A
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys167Tyr
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/22-29121313-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121313
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121313
    reference: chr 22
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.362G>T
  hgvsp: ENSP00000402225.1:p.Cys121Phe
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.362G>T
  hgvsp: ENSP00000386087.1:p.Cys121Phe
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.491G>T
  hgvsp: ENSP00000372023.2:p.Cys164Phe
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.362G>T
  hgvsp: ENSP00000384835.1:p.Cys121Phe
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.362G>T
  hgvsp: ENSP00000385747.1:p.Cys121Phe
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.362G>T
  hgvsp: ENSP00000372007.1:p.Cys121Phe
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-416G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5840G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.455G>T
  hgvsp: ENSP00000408065.1:p.Cys152Phe
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.392G>T
  hgvsp: ENSP00000381099.2:p.Cys131Phe
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.362G>T
  hgvsp: ENSP00000404400.1:p.Cys121Phe
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.362G>T
  hgvsp: ENSP00000404567.1:p.Cys121Phe
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.362G>T
  hgvsp: ENSP00000412901.1:p.Cys121Phe
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.362G>T
  hgvsp: ENSP00000329012.5:p.Cys121Phe
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000387451
  ensembl transcript: ENST00000454252
  gene symbol: CHEK2
  hgvsc: ENST00000454252.1:c.*342G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9078G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-302G>T
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000397478
  ensembl transcript: ENST00000447421
  gene symbol: CHEK2
  hgvsc: ENST00000447421.1:c.362G>T
  hgvsp: ENSP00000397478.1:p.Cys121Phe
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.362G>T
  hgvsp: ENSP00000329178.6:p.Cys121Phe
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys164Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

22-29121319-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121319
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121319
    reference: chr 22
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.356A>G
  hgvsp: ENSP00000404567.1:p.Lys119Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000408065
  ensembl transcript: ENST00000439200
  gene symbol: CHEK2
  hgvsc: ENST00000439200.1:c.449A>G
  hgvsp: ENSP00000408065.1:p.Lys150Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372023
  ensembl transcript: ENST00000382580
  gene symbol: CHEK2
  hgvsc: ENST00000382580.2:c.485A>G
  hgvsp: ENSP00000372023.2:p.Lys162Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5846A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000403659
  ensembl transcript: ENST00000433028
  gene symbol: CHEK2
  hgvsc: ENST00000433028.2:c.356A>G
  hgvsp: ENSP00000403659.1:p.Lys119Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.356A>G
  hgvsp: ENSP00000402225.1:p.Lys119Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329178
  ensembl transcript: ENST00000328354
  gene symbol: CHEK2
  hgvsc: ENST00000328354.6:c.356A>G
  hgvsp: ENSP00000329178.6:p.Lys119Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.356A>G
  hgvsp: ENSP00000412901.1:p.Lys119Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-422A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372006
  ensembl transcript: ENST00000382565
  gene symbol: CHEK2
  hgvsc: ENST00000382565.1:c.319+9072A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000386087
  ensembl transcript: ENST00000405598
  gene symbol: CHEK2
  hgvsc: ENST00000405598.1:c.356A>G
  hgvsp: ENSP00000386087.1:p.Lys119Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.356A>G
  hgvsp: ENSP00000385747.1:p.Lys119Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.356A>G
  hgvsp: ENSP00000404400.1:p.Lys119Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000390244
  ensembl transcript: ENST00000425190
  gene symbol: CHEK2
  hgvsc: ENST00000425190.2:c.-308A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000381099
  ensembl transcript: ENST00000398017
  gene symbol: CHEK2
  hgvsc: ENST00000398017.2:c.386A>G
  hgvsp: ENSP00000381099.2:p.Lys129Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372007
  ensembl transcript: ENST00000382566
  gene symbol: CHEK2
  hgvsc: ENST00000382566.1:c.356A>G
  hgvsp: ENSP00000372007.1:p.Lys119Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000329012
  ensembl transcript: ENST00000348295
  gene symbol: CHEK2
  hgvsc: ENST00000348295.3:c.356A>G
  hgvsp: ENSP00000329012.5:p.Lys119Arg
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000372021
  ensembl transcript: ENST00000382578
  gene symbol: CHEK2
  hgvsc: ENST00000382578.1:c.320-5846A>G
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384835
  ensembl transcript: ENST00000402731
  gene symbol: CHEK2
  hgvsc: ENST00000402731.1:c.356A>G
  hgvsp: ENSP00000384835.1:p.Lys119Arg
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys162Arg
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

22-29121321-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29121321
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 29121321
    reference: chr 22
allele count: 2
allele frequency: 1.64923970049807e-5
allele num: 121268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000412901
  ensembl transcript: ENST00000417588
  gene symbol: CHEK2
  hgvsc: ENST00000417588.1:c.354C>A
  hgvsp: ENSP00000412901.1:p.Asp118Glu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000385747
  ensembl transcript: ENST00000404276
  gene symbol: CHEK2
  hgvsc: ENST00000404276.1:c.354C>A
  hgvsp: ENSP00000385747.1:p.Asp118Glu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404567
  ensembl transcript: ENST00000448511
  gene symbol: CHEK2
  hgvsc: ENST00000448511.1:c.354C>A
  hgvsp: ENSP00000404567.1:p.Asp118Glu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000404400
  ensembl transcript: ENST00000433728
  gene symbol: CHEK2
  hgvsc: ENST00000433728.1:c.354C>A
  hgvsp: ENSP00000404400.1:p.Asp118Glu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000384919
  ensembl transcript: ENST00000403642
  gene symbol: CHEK2
  hgvsc: ENST00000403642.1:c.320-5848C>A
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000402225
  ensembl transcript: ENST00000416671
  gene symbol: CHEK2
  hgvsc: ENST00000416671.1:c.354C>A
  hgvsp: ENSP00000402225.1:p.Asp118Glu
  variant of: http://identifiers.org/hgnc/16627
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000183765
  ensembl protein: ENSP00000442458
  ensembl transcript: ENST00000544772
  gene symbol: CHEK2
  hgvsc: ENST00000544772.1:c.-424C>A
  variant of: http://identifiers.org/hgnc/16627
canonical: true
consequence: missense
filter: PASS
hgvs: p.Asp161Glu
num of homozygotes: 0
reference allele: G

Annotation
canonical: false
clinical significance: pathogenic
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000397478
ensembl transcript: ENST00000447421
gene symbol: CHEK2
hgvsc: ENST00000447421.1:c.445-105C>T
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: pathogenic
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372007
ensembl transcript: ENST00000382566
gene symbol: CHEK2
hgvsc: ENST00000382566.1:c.541C>T
hgvsp: ENSP00000372007.1:p.Arg181Cys
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: pathogenic
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000412901
ensembl transcript: ENST00000417588
gene symbol: CHEK2
hgvsc: ENST00000417588.1:c.541C>T
hgvsp: ENSP00000412901.1:p.Arg181Cys
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 218
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12321
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 345
bin: 6.75e1
variant carriers: 3

GenotypeDepth
all individuals: 8862
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1175
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3985
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1682
bin: 9.75e1
variant carriers: 7

GenotypeDepth
all individuals: 1837
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25203
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2817
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 781
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 216
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3737
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7023
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3787
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9201
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 2055
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4872
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28111
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997871511227029e-5
allele num: 66714
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.451241671714113e-4
allele num: 16510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.98057e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e0

QD
type: SiteQuality
SIO_000300: 1.373e1

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

Annotation
canonical: false
clinical significance: uncertain_significance&pathogenic
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000329178
ensembl transcript: ENST00000328354
gene symbol: CHEK2
hgvsc: ENST00000328354.6:c.539G>A
hgvsp: ENSP00000329178.6:p.Arg180His
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance&pathogenic
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000412901
ensembl transcript: ENST00000417588
gene symbol: CHEK2
hgvsc: ENST00000417588.1:c.539G>A
hgvsp: ENSP00000412901.1:p.Arg180His
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance&pathogenic
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372007
ensembl transcript: ENST00000382566
gene symbol: CHEK2
hgvsc: ENST00000382566.1:c.539G>A
hgvsp: ENSP00000372007.1:p.Arg180His
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 1175
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 216
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8862
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25194
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1682
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1839
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3983
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2816
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12329
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 345
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 783
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 272
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7022
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9203
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2055
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3739
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28102
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3788
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4873
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49667246237784e-5
allele num: 66716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.898e0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.145e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

DP
type: SiteQuality
SIO_000300: 1.980109e6

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000442458
ensembl transcript: ENST00000544772
gene symbol: CHEK2
hgvsc: ENST00000544772.1:c.-240C>T
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372006
ensembl transcript: ENST00000382565
gene symbol: CHEK2
hgvsc: ENST00000382565.1:c.319+9372C>T
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000397478
ensembl transcript: ENST00000447421
gene symbol: CHEK2
hgvsc: ENST00000447421.1:c.445-108C>T
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000404567
ensembl transcript: ENST00000448511
gene symbol: CHEK2
hgvsc: ENST00000448511.1:c.445-108C>T
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 3976
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 245
bin: 7.75e1
variant carriers: 18

GenotypeDepth
all individuals: 510
bin: 6.25e1
variant carriers: 12

GenotypeDepth
all individuals: 2810
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1176
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 359
bin: 6.75e1
variant carriers: 15

GenotypeDepth
all individuals: 8837
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1840
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 12294
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 286
bin: 7.25e1
variant carriers: 14

GenotypeDepth
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1734
bin: 9.75e1
variant carriers: 55

GenotypeDepth
all individuals: 25117
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 9.25e1
variant carriers: 9

GenotypeDepth
all individuals: 792
bin: 5.75e1
variant carriers: 9

GenotypeDepth
all individuals: 224
bin: 8.75e1
variant carriers: 8

GenotypeDepth
all individuals: 241
bin: 8.25e1
variant carriers: 14

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1841
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7001
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3782
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3725
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28028
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9352
bin: 9.75e1
variant carriers: 165

GenotypeQuality
all individuals: 2047
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4865
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.814172925091469e-4
allele num: 10386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 114
allele frequency: 1.708786761399406e-3
allele num: 66714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 35
allele frequency: 4.047178538390379e-3
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.451902108068815e-4
allele num: 16508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

DP
type: SiteQuality
SIO_000300: 1.990249e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.97e-1

FS
type: SiteQuality
SIO_000300: 5.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.359e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372006
ensembl transcript: ENST00000382565
gene symbol: CHEK2
hgvsc: ENST00000382565.1:c.319+9368A>G
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000397478
ensembl transcript: ENST00000447421
gene symbol: CHEK2
hgvsc: ENST00000447421.1:c.445-112A>G
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 286
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2811
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1708
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1184
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8835
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12296
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25114
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1844
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 799
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3977
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3783
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7001
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2047
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28026
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9353
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3725
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4871
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.25e0

DP
type: SiteQuality
SIO_000300: 1.987943e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

QD
type: SiteQuality
SIO_000300: 1.544e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000390244
ensembl transcript: ENST00000425190
gene symbol: CHEK2
hgvsc: ENST00000425190.2:c.-130A>C
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000404567
ensembl transcript: ENST00000448511
gene symbol: CHEK2
hgvsc: ENST00000448511.1:c.445-112A>C
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 1844
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2811
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1708
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3977
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 799
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 242
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1184
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25114
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8835
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12296
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9353
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7001
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3725
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4871
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28026
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2047
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3783
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.25e0

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.544e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.987943e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000397478
ensembl transcript: ENST00000447421
gene symbol: CHEK2
hgvsc: ENST00000447421.1:c.445-122dupT
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000442458
ensembl transcript: ENST00000544772
gene symbol: CHEK2
hgvsc: ENST00000544772.1:c.-254dupT
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8833
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12301
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1184
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1707
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3980
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 799
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2810
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25111
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1845
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3782
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9354
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4870
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28025
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3727
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2049
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7002
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

FS
type: SiteQuality
SIO_000300: 3.108e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.38e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

QD
type: SiteQuality
SIO_000300: 1.654e1

DP
type: SiteQuality
SIO_000300: 1.988066e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.41e-1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000442458
ensembl transcript: ENST00000544772
gene symbol: CHEK2
hgvsc: ENST00000544772.1:c.-271delT
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372006
ensembl transcript: ENST00000382565
gene symbol: CHEK2
hgvsc: ENST00000382565.1:c.319+9341delT
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 1706
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1186
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1846
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12306
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3979
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2810
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25100
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 240
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 286
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8840
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7010
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4869
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28022
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3785
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2049
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3727
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9355
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.028e0

DP
type: SiteQuality
SIO_000300: 1.988171e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.27e-1

MQ
type: SiteQuality
SIO_000300: 6.029e1

QD
type: SiteQuality
SIO_000300: 1.433e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.036e0

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000403659
ensembl transcript: ENST00000433028
gene symbol: CHEK2
hgvsc: ENST00000433028.2:c.445-146G>A
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000404567
ensembl transcript: ENST00000448511
gene symbol: CHEK2
hgvsc: ENST00000448511.1:c.445-146G>A
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000329178
ensembl transcript: ENST00000328354
gene symbol: CHEK2
hgvsc: ENST00000328354.6:c.500G>A
hgvsp: ENSP00000329178.6:p.Gly167Glu
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 286
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3980
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1185
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8841
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 240
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1847
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25090
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2810
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12308
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1707
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3785
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4870
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7011
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28013
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3726
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9357
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2048
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

QD
type: SiteQuality
SIO_000300: 6.19e0

FS
type: SiteQuality
SIO_000300: 1.223e0

MQRankSum
type: SiteQuality
SIO_000300: 5.75e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.323e-1

DP
type: SiteQuality
SIO_000300: 1.988223e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372006
ensembl transcript: ENST00000382565
gene symbol: CHEK2
hgvsc: ENST00000382565.1:c.319+9333G>A
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000384919
ensembl transcript: ENST00000403642
gene symbol: CHEK2
hgvsc: ENST00000403642.1:c.320-5585G>A
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000390244
ensembl transcript: ENST00000425190
gene symbol: CHEK2
hgvsc: ENST00000425190.2:c.-165G>A
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000402225
ensembl transcript: ENST00000416671
gene symbol: CHEK2
hgvsc: ENST00000416671.1:c.499G>A
hgvsp: ENSP00000402225.1:p.Gly167Arg
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 12307
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2809
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25087
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 518
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1847
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3980
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1710
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 1185
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 240
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8841
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7011
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9361
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4868
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3726
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3785
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995563283170454e-5
allele num: 66716
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.59e-1

DP
type: SiteQuality
SIO_000300: 1.98883e6

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.35e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000442458
ensembl transcript: ENST00000544772
gene symbol: CHEK2
hgvsc: ENST00000544772.1:c.-280T>C
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000386087
ensembl transcript: ENST00000405598
gene symbol: CHEK2
hgvsc: ENST00000405598.1:c.498T>C
hgvsp: ENST00000405598.1:c.498T>C(p.%3D)
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 241
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1847
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12306
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2809
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25087
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8840
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 518
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1186
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 287
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3980
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1707
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7010
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28013
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3786
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3727
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9362
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4868
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.98e-1

FS
type: SiteQuality
SIO_000300: 1.083e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

QD
type: SiteQuality
SIO_000300: 1.073e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.988503e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000403659
ensembl transcript: ENST00000433028
gene symbol: CHEK2
hgvsc: ENST00000433028.2:c.445-157C>T
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000397478
ensembl transcript: ENST00000447421
gene symbol: CHEK2
hgvsc: ENST00000447421.1:c.445-157C>T
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 3979
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2811
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1846
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 518
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1708
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12310
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 287
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8843
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1185
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25076
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3727
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3787
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7011
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4871
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9362
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28011
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.988588e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.209e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.172e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.205e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372006
ensembl transcript: ENST00000382565
gene symbol: CHEK2
hgvsc: ENST00000382565.1:c.319+9322A>G
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000385747
ensembl transcript: ENST00000404276
gene symbol: CHEK2
hgvsc: ENST00000404276.1:c.488A>G
hgvsp: ENSP00000385747.1:p.His163Arg
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 8842
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1846
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1707
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1185
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25075
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2810
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 518
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3980
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12311
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 287
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4871
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28004
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3787
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3725
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7010
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9363
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 8.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

DP
type: SiteQuality
SIO_000300: 1.988618e6

QD
type: SiteQuality
SIO_000300: 1.482e1

Annotation
canonical: false
consequence: inframe_deletion
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000329178
ensembl transcript: ENST00000328354
gene symbol: CHEK2
hgvsc: ENST00000328354.6:c.483_485delAGA
hgvsp: ENSP00000329178.6:p.Glu161del
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372021
ensembl transcript: ENST00000382578
gene symbol: CHEK2
hgvsc: ENST00000382578.1:c.320-5601_320-5599delAGA
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000387451
ensembl transcript: ENST00000454252
gene symbol: CHEK2
hgvsc: ENST00000454252.1:c.*463_*465delAGA
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 1708
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8842
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12315
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 287
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 365
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3979
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25072
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1185
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1846
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2810
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 518
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3787
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4871
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7010
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3725
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28010
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9365
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.791e1

QD
type: SiteQuality
SIO_000300: 1.81e1

FS
type: SiteQuality
SIO_000300: 4.884e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.988771e6

MQRankSum
type: SiteQuality
SIO_000300: -1.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.1e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000397478
ensembl transcript: ENST00000447421
gene symbol: CHEK2
hgvsc: ENST00000447421.1:c.444+159A>G
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372006
ensembl transcript: ENST00000382565
gene symbol: CHEK2
hgvsc: ENST00000382565.1:c.319+9319A>G
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372021
ensembl transcript: ENST00000382578
gene symbol: CHEK2
hgvsc: ENST00000382578.1:c.320-5599A>G
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8842
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 365
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1846
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25070
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 518
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1185
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1708
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12315
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2810
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3979
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 287
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7011
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28008
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9364
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3725
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3787
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4871
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

FS
type: SiteQuality
SIO_000300: 1.036e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

QD
type: SiteQuality
SIO_000300: 1.619e1

DP
type: SiteQuality
SIO_000300: 1.988636e6

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000397478
ensembl transcript: ENST00000447421
gene symbol: CHEK2
hgvsc: ENST00000447421.1:c.444+154A>G
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000404567
ensembl transcript: ENST00000448511
gene symbol: CHEK2
hgvsc: ENST00000448511.1:c.444+154A>G
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372007
ensembl transcript: ENST00000382566
gene symbol: CHEK2
hgvsc: ENST00000382566.1:c.480A>G
hgvsp: ENSP00000372007.1:p.Ile160Met
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000387451
ensembl transcript: ENST00000454252
gene symbol: CHEK2
hgvsc: ENST00000454252.1:c.*460A>G
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000384919
ensembl transcript: ENST00000403642
gene symbol: CHEK2
hgvsc: ENST00000403642.1:c.320-5604A>G
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 518
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 245
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 367
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3976
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 288
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8842
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25054
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1185
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1846
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1720
bin: 9.75e1
variant carriers: 13

GenotypeDepth
all individuals: 2808
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 12308
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27989
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9381
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7008
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4869
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3785
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 1.029678982434888e-3
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496537665997182e-5
allele num: 66718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

FS
type: SiteQuality
SIO_000300: 1.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.8e-2

DP
type: SiteQuality
SIO_000300: 1.990619e6

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

QD
type: SiteQuality
SIO_000300: 1.434e1

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372007
ensembl transcript: ENST00000382566
gene symbol: CHEK2
hgvsc: ENST00000382566.1:c.479T>G
hgvsp: ENSP00000372007.1:p.Ile160Arg
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: true
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372023
ensembl transcript: ENST00000382580
gene symbol: CHEK2
hgvsc: ENST00000382580.2:c.608T>G
hgvsp: ENSP00000372023.2:p.Ile203Arg
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000384919
ensembl transcript: ENST00000403642
gene symbol: CHEK2
hgvsc: ENST00000403642.1:c.320-5605T>G
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000329012
ensembl transcript: ENST00000348295
gene symbol: CHEK2
hgvsc: ENST00000348295.3:c.479T>G
hgvsp: ENSP00000329012.5:p.Ile160Arg
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000387451
ensembl transcript: ENST00000454252
gene symbol: CHEK2
hgvsc: ENST00000454252.1:c.*459T>G
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 8845
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3978
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12301
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2809
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1187
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25040
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 518
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1849
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 247
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1712
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 797
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9380
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3726
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4868
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1843
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2049
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3784
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27959
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.989562e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 9.320000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.85e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000412901
ensembl transcript: ENST00000417588
gene symbol: CHEK2
hgvsc: ENST00000417588.1:c.479T>C
hgvsp: ENSP00000412901.1:p.Ile160Thr
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000387451
ensembl transcript: ENST00000454252
gene symbol: CHEK2
hgvsc: ENST00000454252.1:c.*459T>C
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000329012
ensembl transcript: ENST00000348295
gene symbol: CHEK2
hgvsc: ENST00000348295.3:c.479T>C
hgvsp: ENSP00000329012.5:p.Ile160Thr
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372006
ensembl transcript: ENST00000382565
gene symbol: CHEK2
hgvsc: ENST00000382565.1:c.319+9313T>C
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000397478
ensembl transcript: ENST00000447421
gene symbol: CHEK2
hgvsc: ENST00000447421.1:c.444+153T>C
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 3978
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12301
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 797
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8845
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1187
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 518
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1849
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 247
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2809
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25040
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 367
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1712
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9380
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2049
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27959
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3726
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3784
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4868
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1843
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

DP
type: SiteQuality
SIO_000300: 1.989562e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-1

QD
type: SiteQuality
SIO_000300: 9.85e0

FS
type: SiteQuality
SIO_000300: 9.320000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000381099
ensembl transcript: ENST00000398017
gene symbol: CHEK2
hgvsc: ENST00000398017.2:c.505T>C
hgvsp: ENSP00000381099.2:p.Tyr169His
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000387451
ensembl transcript: ENST00000454252
gene symbol: CHEK2
hgvsc: ENST00000454252.1:c.*455T>C
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000390244
ensembl transcript: ENST00000425190
gene symbol: CHEK2
hgvsc: ENST00000425190.2:c.-189T>C
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 518
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3978
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 799
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25042
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8842
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12301
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1849
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 289
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1712
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2809
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1187
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2049
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3726
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3785
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4867
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27975
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7003
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9383
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.145e1

MQRankSum
type: SiteQuality
SIO_000300: -6.61e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

FS
type: SiteQuality
SIO_000300: 6.365e0

DP
type: SiteQuality
SIO_000300: 1.989507e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.88e0

VQSLOD
type: SiteQuality
SIO_000300: -1.691e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.148e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000329012
ensembl transcript: ENST00000348295
gene symbol: CHEK2
hgvsc: ENST00000348295.3:c.474A>C
hgvsp: ENST00000348295.3:c.474A>C(p.%3D)
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000442458
ensembl transcript: ENST00000544772
gene symbol: CHEK2
hgvsc: ENST00000544772.1:c.-304A>C
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000403659
ensembl transcript: ENST00000433028
gene symbol: CHEK2
hgvsc: ENST00000433028.2:c.444+148A>C
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 367
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2809
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25040
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12301
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1715
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 3977
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1849
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 798
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8840
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 518
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1187
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2049
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4867
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27974
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3785
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9387
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3725
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7001
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995563283170454e-5
allele num: 66716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.989919e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 1.761e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.253e1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000442458
ensembl transcript: ENST00000544772
gene symbol: CHEK2
hgvsc: ENST00000544772.1:c.-306G>A
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000403659
ensembl transcript: ENST00000433028
gene symbol: CHEK2
hgvsc: ENST00000433028.2:c.444+146G>A
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372007
ensembl transcript: ENST00000382566
gene symbol: CHEK2
hgvsc: ENST00000382566.1:c.472G>A
hgvsp: ENSP00000372007.1:p.Ala158Thr
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 248
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1849
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12302
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8840
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25037
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1187
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2809
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3977
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1715
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 799
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4867
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3784
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2049
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9388
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7000
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3725
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27973
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.985e1

QD
type: SiteQuality
SIO_000300: 1.187e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.532999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.38e-1

FS
type: SiteQuality
SIO_000300: 4.69e-1

DP
type: SiteQuality
SIO_000300: 1.989927e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Annotation
canonical: false
clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000329012
ensembl transcript: ENST00000348295
gene symbol: CHEK2
hgvsc: ENST00000348295.3:c.470T>C
hgvsp: ENSP00000329012.5:p.Ile157Thr
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000404567
ensembl transcript: ENST00000448511
gene symbol: CHEK2
hgvsc: ENST00000448511.1:c.444+144T>C
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000381099
ensembl transcript: ENST00000398017
gene symbol: CHEK2
hgvsc: ENST00000398017.2:c.500T>C
hgvsp: ENSP00000381099.2:p.Ile167Thr
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000397478
ensembl transcript: ENST00000447421
gene symbol: CHEK2
hgvsc: ENST00000447421.1:c.444+144T>C
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: not_provided&likely_pathogenic&pathogenic&risk_factor
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000442458
ensembl transcript: ENST00000544772
gene symbol: CHEK2
hgvsc: ENST00000544772.1:c.-308T>C
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 24793
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 5.75e1
variant carriers: 5

GenotypeDepth
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 7.75e1
variant carriers: 17

GenotypeDepth
all individuals: 377
bin: 6.75e1
variant carriers: 12

GenotypeDepth
all individuals: 2789
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12205
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 7.25e1
variant carriers: 15

GenotypeDepth
all individuals: 3948
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 8.75e1
variant carriers: 21

GenotypeDepth
all individuals: 260
bin: 9.25e1
variant carriers: 30

GenotypeDepth
all individuals: 1185
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8767
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1846
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 268
bin: 8.25e1
variant carriers: 26

GenotypeDepth
all individuals: 2051
bin: 9.75e1
variant carriers: 348

GenotypeDepth
all individuals: 527
bin: 6.25e1
variant carriers: 10

GenotypeQuality
all individuals: 27710
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3760
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6945
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9828
bin: 9.75e1
variant carriers: 491

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4838
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 172
allele frequency: 2.600544299969761e-2
allele num: 6614
num of homozygotes: 4

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 318
allele frequency: 4.766187050359712e-3
allele num: 66720
num of homozygotes: 2

African
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.518763796909493e-3
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.78e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.488e1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

DP
type: SiteQuality
SIO_000300: 2.033353e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e0

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000396903
ensembl transcript: ENST00000439346
gene symbol: CHEK2
hgvsc: ENST00000439346.1:c.31A>G
hgvsp: ENSP00000396903.1:p.Ile11Val
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000385747
ensembl transcript: ENST00000404276
gene symbol: CHEK2
hgvsc: ENST00000404276.1:c.469A>G
hgvsp: ENSP00000385747.1:p.Ile157Val
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372006
ensembl transcript: ENST00000382565
gene symbol: CHEK2
hgvsc: ENST00000382565.1:c.319+9303A>G
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 1220
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 841
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 282
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24788
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 407
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2808
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1857
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1821
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12208
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8771
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3954
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3697
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3762
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27703
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9807
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1831
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2025
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4843
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6948
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.013596e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.085e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 8.32e-1

FS
type: SiteQuality
SIO_000300: 2.663e0

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.064e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.477e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372006
ensembl transcript: ENST00000382565
gene symbol: CHEK2
hgvsc: ENST00000382565.1:c.319+9296C>G
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372021
ensembl transcript: ENST00000382578
gene symbol: CHEK2
hgvsc: ENST00000382578.1:c.320-5622C>G
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000442458
ensembl transcript: ENST00000544772
gene symbol: CHEK2
hgvsc: ENST00000544772.1:c.-316C>G
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 24783
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1855
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8771
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12202
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 841
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3954
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1222
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2807
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1822
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 408
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3696
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6944
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9808
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 27701
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2025
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4843
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3761
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.013545e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.923e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e0

MQRankSum
type: SiteQuality
SIO_000300: 9.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

FS
type: SiteQuality
SIO_000300: 1.854e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.461e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000387451
ensembl transcript: ENST00000454252
gene symbol: CHEK2
hgvsc: ENST00000454252.1:c.*436T>C
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000404567
ensembl transcript: ENST00000448511
gene symbol: CHEK2
hgvsc: ENST00000448511.1:c.444+130T>C
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000412901
ensembl transcript: ENST00000417588
gene symbol: CHEK2
hgvsc: ENST00000417588.1:c.456T>C
hgvsp: ENST00000417588.1:c.456T>C(p.%3D)
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 282
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 408
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1221
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 842
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1856
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12203
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24755
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1821
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8769
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3954
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2807
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3697
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9809
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6945
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27671
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3761
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2025
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4845
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.278e0

VQSLOD
type: SiteQuality
SIO_000300: -1.799e0

MQRankSum
type: SiteQuality
SIO_000300: 2.56e0

MQ
type: SiteQuality
SIO_000300: 5.908e1

FS
type: SiteQuality
SIO_000300: 3.925e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

QD
type: SiteQuality
SIO_000300: 1.41e1

DP
type: SiteQuality
SIO_000300: 2.013196e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e0

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000390244
ensembl transcript: ENST00000425190
gene symbol: CHEK2
hgvsc: ENST00000425190.2:c.-213G>T
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000329012
ensembl transcript: ENST00000348295
gene symbol: CHEK2
hgvsc: ENST00000348295.3:c.451G>T
hgvsp: ENSP00000329012.5:p.Gly151Cys
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000397478
ensembl transcript: ENST00000447421
gene symbol: CHEK2
hgvsc: ENST00000447421.1:c.444+125G>T
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2808
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 282
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24718
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12200
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1220
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8768
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1856
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3954
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 844
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1820
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1830
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9809
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 78
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3761
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27620
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3696
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6945
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4843
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 9.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

FS
type: SiteQuality
SIO_000300: 4.236e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.361e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

DP
type: SiteQuality
SIO_000300: 2.01289e6

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000402225
ensembl transcript: ENST00000416671
gene symbol: CHEK2
hgvsc: ENST00000416671.1:c.450G>A
hgvsp: ENST00000416671.1:c.450G>A(p.%3D)
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372021
ensembl transcript: ENST00000382578
gene symbol: CHEK2
hgvsc: ENST00000382578.1:c.320-5634G>A
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372007
ensembl transcript: ENST00000382566
gene symbol: CHEK2
hgvsc: ENST00000382566.1:c.450G>A
hgvsp: ENST00000382566.1:c.450G>A(p.%3D)
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 24711
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3954
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1856
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8767
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 282
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 844
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12202
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1220
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1820
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2808
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4842
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3698
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6944
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27610
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9813
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3760
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 2.012901e6

FS
type: SiteQuality
SIO_000300: 3.983e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.109e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000386087
ensembl transcript: ENST00000405598
gene symbol: CHEK2
hgvsc: ENST00000405598.1:c.445-24G>C
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000387451
ensembl transcript: ENST00000454252
gene symbol: CHEK2
hgvsc: ENST00000454252.1:c.*425-24G>C
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2808
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12186
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1857
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1222
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 282
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 844
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8769
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24656
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1820
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3954
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3699
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6935
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27544
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3758
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4844
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9814
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.012228e6

FS
type: SiteQuality
SIO_000300: 2.137e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

QD
type: SiteQuality
SIO_000300: 8.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.325e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.55e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000387451
ensembl transcript: ENST00000454252
gene symbol: CHEK2
hgvsc: ENST00000454252.1:c.*425-30A>G
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000386087
ensembl transcript: ENST00000405598
gene symbol: CHEK2
hgvsc: ENST00000405598.1:c.445-30A>G
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 8766
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 844
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24651
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2807
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1222
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12186
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1858
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3956
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 282
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1821
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4843
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6932
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27534
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3757
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9815
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1830
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.029999999999999e0

FS
type: SiteQuality
SIO_000300: 2.906e0

QD
type: SiteQuality
SIO_000300: 1.376e1

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

DP
type: SiteQuality
SIO_000300: 2.012211e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000329178
ensembl transcript: ENST00000328354
gene symbol: CHEK2
hgvsc: ENST00000328354.6:c.445-31A>G
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000387451
ensembl transcript: ENST00000454252
gene symbol: CHEK2
hgvsc: ENST00000454252.1:c.*425-31A>G
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 409
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1858
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 844
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8766
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1222
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12187
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3956
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2807
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1821
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 24647
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 282
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6930
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3701
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9814
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3758
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27528
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4843
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.746588693957115e-5
allele num: 10260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.24e0

FS
type: SiteQuality
SIO_000300: 7.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
SIO_000300: -1.58e-1

DP
type: SiteQuality
SIO_000300: 2.012335e6

QD
type: SiteQuality
SIO_000300: 1.499e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000384835
ensembl transcript: ENST00000402731
gene symbol: CHEK2
hgvsc: ENST00000402731.1:c.445-42C>A
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000412901
ensembl transcript: ENST00000417588
gene symbol: CHEK2
hgvsc: ENST00000417588.1:c.445-42C>A
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 269
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1821
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24632
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1860
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1221
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12190
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8767
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3960
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 843
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2808
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6924
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27508
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3757
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9816
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4843
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

FS
type: SiteQuality
SIO_000300: 2.912e0

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.19e-1

QD
type: SiteQuality
SIO_000300: 1.437e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.159e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 2.012466e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000384919
ensembl transcript: ENST00000403642
gene symbol: CHEK2
hgvsc: ENST00000403642.1:c.320-5689C>G
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372021
ensembl transcript: ENST00000382578
gene symbol: CHEK2
hgvsc: ENST00000382578.1:c.320-5689C>G
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 12192
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1221
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24660
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 843
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3958
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1860
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 408
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2812
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8770
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1823
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 284
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9816
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27567
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6927
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3755
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4844
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.31e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 9.31e-1

DP
type: SiteQuality
SIO_000300: 2.013076e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.37e-1

QD
type: SiteQuality
SIO_000300: 1.126e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

MQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000412901
ensembl transcript: ENST00000417588
gene symbol: CHEK2
hgvsc: ENST00000417588.1:c.445-54C>T
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24665
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2814
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12182
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 844
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1823
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3957
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1223
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8775
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1859
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3754
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27566
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9819
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4844
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6928
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3701
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49667246237784e-5
allele num: 66716
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.276e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 3.338e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

DP
type: SiteQuality
SIO_000300: 2.0134e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.55e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000387451
ensembl transcript: ENST00000454252
gene symbol: CHEK2
hgvsc: ENST00000454252.1:c.*424+58A>G
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000408065
ensembl transcript: ENST00000439200
gene symbol: CHEK2
hgvsc: ENST00000439200.1:c.537+58A>G
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1224
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 844
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1823
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 335
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24673
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3960
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8770
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1861
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2815
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 282
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12178
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3754
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27572
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2025
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4845
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6920
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9820
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 3.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 2.138e0

DP
type: SiteQuality
SIO_000300: 2.013567e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

QD
type: SiteQuality
SIO_000300: 1.565e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000387451
ensembl transcript: ENST00000454252
gene symbol: CHEK2
hgvsc: ENST00000454252.1:c.*424+55T>C
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 564
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2816
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24672
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1225
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 843
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 408
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8766
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3959
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1861
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12180
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1824
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4843
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3757
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27557
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9824
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3703
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6919
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2026
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.533e1

DP
type: SiteQuality
SIO_000300: 2.013774e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.59e0

FS
type: SiteQuality
SIO_000300: 1.1957e1

VQSLOD
type: SiteQuality
SIO_000300: -1.519e0

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372006
ensembl transcript: ENST00000382565
gene symbol: CHEK2
hgvsc: ENST00000382565.1:c.319+9207A>C
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000387451
ensembl transcript: ENST00000454252
gene symbol: CHEK2
hgvsc: ENST00000454252.1:c.*424+47A>C
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 259
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1226
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8764
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2814
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1861
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12182
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 846
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 253
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24684
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3961
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1825
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 410
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3756
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27584
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4846
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6920
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9825
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2027
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
type: SiteQuality
SIO_000300: 1.0945e1

MQ
type: SiteQuality
SIO_000300: 5.989e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.03e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 2.014335e6

VQSLOD
type: SiteQuality
SIO_000300: -1.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.06e-1

Annotation
canonical: false
clinical significance: not_provided
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372007
ensembl transcript: ENST00000382566
gene symbol: CHEK2
hgvsc: ENST00000382566.1:c.444+24C>T
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: not_provided
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000329012
ensembl transcript: ENST00000348295
gene symbol: CHEK2
hgvsc: ENST00000348295.3:c.444+24C>T
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: not_provided
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000442458
ensembl transcript: ENST00000544772
gene symbol: CHEK2
hgvsc: ENST00000544772.1:c.-334+24C>T
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: not_provided
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372006
ensembl transcript: ENST00000382565
gene symbol: CHEK2
hgvsc: ENST00000382565.1:c.319+9184C>T
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 1954
bin: 9.75e1
variant carriers: 130

GenotypeDepth
all individuals: 8741
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1854
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 9.25e1
variant carriers: 12

GenotypeDepth
all individuals: 76
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 846
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 36
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 263
bin: 8.75e1
variant carriers: 10

GenotypeDepth
all individuals: 286
bin: 7.75e1
variant carriers: 4

GenotypeDepth
all individuals: 24638
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1227
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 340
bin: 7.25e1
variant carriers: 4

GenotypeDepth
all individuals: 563
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2805
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 413
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 12142
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3958
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27533
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9980
bin: 9.75e1
variant carriers: 170

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6894
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3744
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3699
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4835
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1824
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.511944360447536e-3
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 156
allele frequency: 2.337989329176908e-3
allele num: 66724
num of homozygotes: 1

Latino
type: Population
allele count: 3
allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

QD
type: SiteQuality
SIO_000300: 1.359e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.928e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

DP
type: SiteQuality
SIO_000300: 2.031126e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000402225
ensembl transcript: ENST00000416671
gene symbol: CHEK2
hgvsc: ENST00000416671.1:c.444+20G>T
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 279
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 427
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 295
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24640
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12133
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1864
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2809
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8742
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1868
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 352
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3958
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1238
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 263
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6891
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3743
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3699
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9974
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.023218e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e0

VQSLOD
type: SiteQuality
SIO_000300: -6.119e-1

FS
type: SiteQuality
SIO_000300: 7.397e0

QD
type: SiteQuality
SIO_000300: 1.427e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.833e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.271e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

Annotation
canonical: false
clinical significance: benign&likely_benign
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000402225
ensembl transcript: ENST00000416671
gene symbol: CHEK2
hgvsc: ENST00000416671.1:c.444+19T>C
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: benign&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000329178
ensembl transcript: ENST00000328354
gene symbol: CHEK2
hgvsc: ENST00000328354.6:c.444+19T>C
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: benign&likely_benign
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000387451
ensembl transcript: ENST00000454252
gene symbol: CHEK2
hgvsc: ENST00000454252.1:c.*424+19T>C
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 267
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1863
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12131
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 855
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8738
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24635
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2804
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1891
bin: 9.75e1
variant carriers: 29

GenotypeDepth
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 263
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1235
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3956
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 351
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 282
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 6890
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27517
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3741
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4833
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9996
bin: 9.75e1
variant carriers: 35

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3697
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 35
allele frequency: 5.245646113725608e-4
allele num: 66722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 1.725e0

DP
type: SiteQuality
SIO_000300: 2.02686e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

QD
type: SiteQuality
SIO_000300: 1.335e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.9e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000396903
ensembl transcript: ENST00000439346
gene symbol: CHEK2
hgvsc: ENST00000439346.1:c.6+18A>G
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000408065
ensembl transcript: ENST00000439200
gene symbol: CHEK2
hgvsc: ENST00000439200.1:c.537+18A>G
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 1863
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8740
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24634
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12132
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 264
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3955
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 354
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1238
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2805
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1878
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9995
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4834
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3741
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27528
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3696
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6892
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.158e0

VQSLOD
type: SiteQuality
SIO_000300: -4.88e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 6.789e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.317e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

DP
type: SiteQuality
SIO_000300: 2.02435e6

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000384919
ensembl transcript: ENST00000403642
gene symbol: CHEK2
hgvsc: ENST00000403642.1:c.320-5753G>A
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000329012
ensembl transcript: ENST00000348295
gene symbol: CHEK2
hgvsc: ENST00000348295.3:c.444+5G>A
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000396903
ensembl transcript: ENST00000439346
gene symbol: CHEK2
hgvsc: ENST00000439346.1:c.6+5G>A
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000329178
ensembl transcript: ENST00000328354
gene symbol: CHEK2
hgvsc: ENST00000328354.6:c.444+5G>A
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000384835
ensembl transcript: ENST00000402731
gene symbol: CHEK2
hgvsc: ENST00000402731.1:c.444+5G>A
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 279
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1239
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1879
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8739
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3955
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2805
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12131
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24642
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 354
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1863
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 264
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4831
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9996
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6892
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3744
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27554
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.996e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 2.024471e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.209e1

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000386087
ensembl transcript: ENST00000405598
gene symbol: CHEK2
hgvsc: ENST00000405598.1:c.444+2T>G
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000329012
ensembl transcript: ENST00000348295
gene symbol: CHEK2
hgvsc: ENST00000348295.3:c.444+2T>G
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 24654
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 429
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1863
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8740
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2805
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12126
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3955
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1239
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1878
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 354
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6890
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3696
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3743
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9997
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1822
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27562
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.275e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.796e0

DP
type: SiteQuality
SIO_000300: 2.024508e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.73e0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-2

FS
type: SiteQuality
SIO_000300: 5.586e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: -1.232e0

Annotation
canonical: false
clinical significance: not_provided&pathogenic
consequence: splice_donor_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000329178
ensembl transcript: ENST00000328354
gene symbol: CHEK2
hgvsc: ENST00000328354.6:c.444+1G>T
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: not_provided&pathogenic
consequence: splice_donor_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000384835
ensembl transcript: ENST00000402731
gene symbol: CHEK2
hgvsc: ENST00000402731.1:c.444+1G>T
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: not_provided&pathogenic
consequence: splice_donor_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000386087
ensembl transcript: ENST00000405598
gene symbol: CHEK2
hgvsc: ENST00000405598.1:c.444+1G>T
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: not_provided&pathogenic
consequence: splice_donor_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000404567
ensembl transcript: ENST00000448511
gene symbol: CHEK2
hgvsc: ENST00000448511.1:c.444+1G>T
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 856
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8739
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1239
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2805
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 430
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1886
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24649
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12119
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3954
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1863
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27537
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3742
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6886
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10010
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4828
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.293e1

FS
type: SiteQuality
SIO_000300: 2.443e0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.791e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

DP
type: SiteQuality
SIO_000300: 2.025771e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Annotation
canonical: false
clinical significance: not_provided&pathogenic
consequence: splice_donor_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000396903
ensembl transcript: ENST00000439346
gene symbol: CHEK2
hgvsc: ENST00000439346.1:c.6+1G>A
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: not_provided&pathogenic
consequence: splice_donor_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000385747
ensembl transcript: ENST00000404276
gene symbol: CHEK2
hgvsc: ENST00000404276.1:c.444+1G>A
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: not_provided&pathogenic
consequence: splice_donor_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000412901
ensembl transcript: ENST00000417588
gene symbol: CHEK2
hgvsc: ENST00000417588.1:c.444+1G>A
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 12119
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24649
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8739
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1863
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 430
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3954
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 856
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1239
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2805
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1886
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4828
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3742
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6886
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10010
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 27537
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.648681055155875e-4
allele num: 66720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.791e0

DP
type: SiteQuality
SIO_000300: 2.025771e6

FS
type: SiteQuality
SIO_000300: 2.443e0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

QD
type: SiteQuality
SIO_000300: 1.293e1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000403659
ensembl transcript: ENST00000433028
gene symbol: CHEK2
hgvsc: ENST00000433028.2:c.436A>C
hgvsp: ENSP00000403659.1:p.Ile146Leu
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372021
ensembl transcript: ENST00000382578
gene symbol: CHEK2
hgvsc: ENST00000382578.1:c.320-5766A>C
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 1863
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2805
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24658
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3956
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1239
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 859
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8740
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12124
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 431
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1883
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 279
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4834
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3744
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27561
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6882
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10009
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496537665997182e-5
allele num: 66718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.79e-1

QD
type: SiteQuality
SIO_000300: 1.499e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.65e-1

FS
type: SiteQuality
SIO_000300: 1.263e0

DP
type: SiteQuality
SIO_000300: 2.025429e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.4e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000387451
ensembl transcript: ENST00000454252
gene symbol: CHEK2
hgvsc: ENST00000454252.1:c.*415G>T
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000384919
ensembl transcript: ENST00000403642
gene symbol: CHEK2
hgvsc: ENST00000403642.1:c.320-5767G>T
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 298
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3956
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24662
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 432
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2804
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12123
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1239
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1880
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 859
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8740
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1864
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3744
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27571
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4833
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6883
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10009
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2020
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.025522e6

FS
type: SiteQuality
SIO_000300: 9.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-1

MQ
type: SiteQuality
SIO_000300: 5.799e1

QD
type: SiteQuality
SIO_000300: 9.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.856e0

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000390244
ensembl transcript: ENST00000425190
gene symbol: CHEK2
hgvsc: ENST00000425190.2:c.-230G>C
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000408065
ensembl transcript: ENST00000439200
gene symbol: CHEK2
hgvsc: ENST00000439200.1:c.527G>C
hgvsp: ENSP00000408065.1:p.Arg176Pro
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 24657
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3957
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 859
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1239
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8739
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12128
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 432
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1882
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1864
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2804
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10011
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6880
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3744
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4831
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27569
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

FS
type: SiteQuality
SIO_000300: 2.454e0

VQSLOD
type: SiteQuality
SIO_000300: 6.830000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

DP
type: SiteQuality
SIO_000300: 2.025703e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000381099
ensembl transcript: ENST00000398017
gene symbol: CHEK2
hgvsc: ENST00000398017.2:c.464G>A
hgvsp: ENSP00000381099.2:p.Arg155Gln
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000442458
ensembl transcript: ENST00000544772
gene symbol: CHEK2
hgvsc: ENST00000544772.1:c.-344G>A
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 1864
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3957
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1239
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12128
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 432
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2804
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 859
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24657
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1882
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8739
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4831
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27569
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3744
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6880
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10011
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997691777331455e-5
allele num: 66718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.025703e6

VQSLOD
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

MQRankSum
type: SiteQuality
SIO_000300: 7.74e-1

FS
type: SiteQuality
SIO_000300: 2.454e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.172e1

Annotation
canonical: false
clinical significance: not_provided&likely_pathogenic&pathogenic
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000387451
ensembl transcript: ENST00000454252
gene symbol: CHEK2
hgvsc: ENST00000454252.1:c.*413C>T
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: not_provided&likely_pathogenic&pathogenic
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000329178
ensembl transcript: ENST00000328354
gene symbol: CHEK2
hgvsc: ENST00000328354.6:c.433C>T
hgvsp: ENSP00000329178.6:p.Arg145Trp
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: not_provided&likely_pathogenic&pathogenic
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000385747
ensembl transcript: ENST00000404276
gene symbol: CHEK2
hgvsc: ENST00000404276.1:c.433C>T
hgvsp: ENSP00000385747.1:p.Arg145Trp
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: not_provided&likely_pathogenic&pathogenic
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000384919
ensembl transcript: ENST00000403642
gene symbol: CHEK2
hgvsc: ENST00000403642.1:c.320-5769C>T
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 279
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1863
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12130
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2804
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1239
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24658
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1885
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 432
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8739
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3955
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 859
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4832
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3744
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27576
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10013
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6882
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.197e0

FS
type: SiteQuality
SIO_000300: 5.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

DP
type: SiteQuality
SIO_000300: 2.025921e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

QD
type: SiteQuality
SIO_000300: 1.295e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000385747
ensembl transcript: ENST00000404276
gene symbol: CHEK2
hgvsc: ENST00000404276.1:c.419G>A
hgvsp: ENSP00000385747.1:p.Ser140Asn
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000442458
ensembl transcript: ENST00000544772
gene symbol: CHEK2
hgvsc: ENST00000544772.1:c.-359G>A
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12133
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2804
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1239
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24665
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3956
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 859
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1863
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 432
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 267
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1882
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8740
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10014
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3747
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27588
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6887
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4832
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.073e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.025762e6

FS
type: SiteQuality
SIO_000300: 1.287e0

MQRankSum
type: SiteQuality
SIO_000300: -1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.034e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.103e0

QD
type: SiteQuality
SIO_000300: 4.9e-1

Annotation
canonical: false
clinical significance: likely_benign
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000397478
ensembl transcript: ENST00000447421
gene symbol: CHEK2
hgvsc: ENST00000447421.1:c.410G>A
hgvsp: ENSP00000397478.1:p.Arg137Gln
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: likely_benign
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000387451
ensembl transcript: ENST00000454252
gene symbol: CHEK2
hgvsc: ENST00000454252.1:c.*390G>A
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: likely_benign
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000412901
ensembl transcript: ENST00000417588
gene symbol: CHEK2
hgvsc: ENST00000417588.1:c.410G>A
hgvsp: ENSP00000412901.1:p.Arg137Gln
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 3955
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8733
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2803
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24660
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1238
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 433
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 281
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12132
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1899
bin: 9.75e1
variant carriers: 17

GenotypeDepth
all individuals: 858
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1863
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 300
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10039
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 6881
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3749
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27585
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.847977935665678e-4
allele num: 66714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.456619426201175e-4
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

FS
type: SiteQuality
SIO_000300: 1.097e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

DP
type: SiteQuality
SIO_000300: 2.02845e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.62e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000387451
ensembl transcript: ENST00000454252
gene symbol: CHEK2
hgvsc: ENST00000454252.1:c.*389C>T
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000329012
ensembl transcript: ENST00000348295
gene symbol: CHEK2
hgvsc: ENST00000348295.3:c.409C>T
hgvsp: ENSP00000329012.5:p.Arg137Ter
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 2803
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 863
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8729
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 434
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1238
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 24665
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1866
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12133
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3956
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1889
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 300
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 281
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10041
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27592
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6880
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3749
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496942079386017e-5
allele num: 66712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

DP
type: SiteQuality
SIO_000300: 2.027471e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000412901
ensembl transcript: ENST00000417588
gene symbol: CHEK2
hgvsc: ENST00000417588.1:c.400G>C
hgvsp: ENSP00000412901.1:p.Asp134His
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000386087
ensembl transcript: ENST00000405598
gene symbol: CHEK2
hgvsc: ENST00000405598.1:c.400G>C
hgvsp: ENSP00000386087.1:p.Asp134His
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000403659
ensembl transcript: ENST00000433028
gene symbol: CHEK2
hgvsc: ENST00000433028.2:c.400G>C
hgvsp: ENSP00000403659.1:p.Asp134His
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372006
ensembl transcript: ENST00000382565
gene symbol: CHEK2
hgvsc: ENST00000382565.1:c.319+9116G>C
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 24665
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1889
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3957
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8730
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 863
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1239
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12132
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2801
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1867
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27590
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6876
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10041
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3748
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3694
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.129e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.334e1

DP
type: SiteQuality
SIO_000300: 2.027396e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372006
ensembl transcript: ENST00000382565
gene symbol: CHEK2
hgvsc: ENST00000382565.1:c.319+9111G>T
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000412901
ensembl transcript: ENST00000417588
gene symbol: CHEK2
hgvsc: ENST00000417588.1:c.395G>T
hgvsp: ENSP00000412901.1:p.Arg132Ile
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 435
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24665
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2799
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12130
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3957
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8729
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1889
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1240
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 864
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1866
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27589
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3747
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6876
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10042
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

DP
type: SiteQuality
SIO_000300: 2.027495e6

VQSLOD
type: SiteQuality
SIO_000300: 3.46e-1

FS
type: SiteQuality
SIO_000300: 3.276e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.124e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.031e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.77e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000408065
ensembl transcript: ENST00000439200
gene symbol: CHEK2
hgvsc: ENST00000439200.1:c.482T>A
hgvsp: ENSP00000408065.1:p.Leu161Gln
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000329178
ensembl transcript: ENST00000328354
gene symbol: CHEK2
hgvsc: ENST00000328354.6:c.389T>A
hgvsp: ENSP00000329178.6:p.Leu130Gln
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 358
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24657
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3958
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12133
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2799
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8728
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1240
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 863
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1866
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 435
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1889
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10043
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3747
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4828
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27595
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6878
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 5.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

DP
type: SiteQuality
SIO_000300: 2.027537e6

QD
type: SiteQuality
SIO_000300: 1.704e1

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000404567
ensembl transcript: ENST00000448511
gene symbol: CHEK2
hgvsc: ENST00000448511.1:c.384A>G
hgvsp: ENST00000448511.1:c.384A>G(p.%3D)
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000403659
ensembl transcript: ENST00000433028
gene symbol: CHEK2
hgvsc: ENST00000433028.2:c.384A>G
hgvsp: ENST00000433028.2:c.384A>G(p.%3D)
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8731
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1239
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 435
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12132
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 863
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24653
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1892
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1867
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2798
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3956
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27594
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10045
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6874
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3745
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.88e-1

FS
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.929e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

DP
type: SiteQuality
SIO_000300: 2.027764e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.327e0

QD
type: SiteQuality
SIO_000300: 1.42e1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000390244
ensembl transcript: ENST00000425190
gene symbol: CHEK2
hgvsc: ENST00000425190.2:c.-283A>G
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000442458
ensembl transcript: ENST00000544772
gene symbol: CHEK2
hgvsc: ENST00000544772.1:c.-397A>G
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24651
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8727
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1867
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12136
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 863
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1239
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3957
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2797
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1892
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 435
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3744
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10045
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1820
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27594
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6872
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.615e1

FS
type: SiteQuality
SIO_000300: 5.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.027718e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.89e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000372021
ensembl transcript: ENST00000382578
gene symbol: CHEK2
hgvsc: ENST00000382578.1:c.320-5831G>A
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000397478
ensembl transcript: ENST00000447421
gene symbol: CHEK2
hgvsc: ENST00000447421.1:c.371G>A
hgvsp: ENSP00000397478.1:p.Cys124Tyr
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 863
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 282
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2798
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8726
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24633
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 435
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12140
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3956
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1867
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1239
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1892
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27569
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3743
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6877
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10046
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.346e0

MQRankSum
type: SiteQuality
SIO_000300: -4.87e-1

DP
type: SiteQuality
SIO_000300: 2.027656e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.321999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-2

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 7.0e-1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000403659
ensembl transcript: ENST00000433028
gene symbol: CHEK2
hgvsc: ENST00000433028.2:c.362G>T
hgvsp: ENSP00000403659.1:p.Cys121Phe
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000384919
ensembl transcript: ENST00000403642
gene symbol: CHEK2
hgvsc: ENST00000403642.1:c.320-5840G>T
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 24617
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12135
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 863
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 435
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1866
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2798
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8724
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1892
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 299
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 282
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3956
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1239
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6876
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10046
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4831
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27546
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3741
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.417e0

DP
type: SiteQuality
SIO_000300: 2.027286e6

VQSLOD
type: SiteQuality
SIO_000300: -1.475e0

FS
type: SiteQuality
SIO_000300: 1.1214e1

QD
type: SiteQuality
SIO_000300: 1.333e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.78e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000397478
ensembl transcript: ENST00000447421
gene symbol: CHEK2
hgvsc: ENST00000447421.1:c.356A>G
hgvsp: ENSP00000397478.1:p.Lys119Arg
variant of: http://identifiers.org/hgnc/16627

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183765
ensembl protein: ENSP00000387451
ensembl transcript: ENST00000454252
gene symbol: CHEK2
hgvsc: ENST00000454252.1:c.*336A>G
variant of: http://identifiers.org/hgnc/16627

GenotypeDepth
all individuals: 1239
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12125
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 282
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24614
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 863
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8726
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3956
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 435
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2797
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1893
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 299
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1866
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27550
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3738
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6873
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10047
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.646922631680494e-5
allele num: 10366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.027142e6

MQRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.958e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

QD
type: SiteQuality
SIO_000300: 1.612e1

MQ
type: SiteQuality
SIO_000300: 5.97e1