11-110126086-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110126086
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110126086
    reference: chr 11
allele count: 1
allele frequency: 8.51397142711189e-6
allele num: 117454
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*193C>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.315C>G
  hgvsp: ENST00000544551.1:c.315C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-7528C>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+2796C>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.723C>G
  hgvsp: ENST00000530749.1:c.723C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.723C>G
  hgvsp: ENST00000405097.1:c.723C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.723C>G
  hgvsp: ENST00000343115.4:c.723C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*25C>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.723C>G
  hgvsp: ENST00000528498.1:c.723C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.275C>G
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5239
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro241Pro
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: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

11-110126094-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110126094
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110126094
    reference: chr 11
allele count: 1
allele frequency: 8.549346829902196e-6
allele num: 116968
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.715G>C
  hgvsp: ENSP00000384136.1:p.Gly239Arg
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.307G>C
  hgvsp: ENSP00000445826.1:p.Gly103Arg
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-7536G>C
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.715G>C
  hgvsp: ENSP00000432112.1:p.Gly239Arg
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.267G>C
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.715G>C
  hgvsp: ENSP00000437301.1:p.Gly239Arg
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*185G>C
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+2788G>C
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.715G>C
  hgvsp: ENSP00000342830.4:p.Gly239Arg
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly239Arg
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

11-110126106-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110126106
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110126106
    reference: chr 11
allele count: 1
allele frequency: 8.678898127093784e-6
allele num: 115222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.703A>G
  hgvsp: ENSP00000437301.1:p.Thr235Ala
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-7548A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.703A>G
  hgvsp: ENSP00000432112.1:p.Thr235Ala
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.703A>G
  hgvsp: ENSP00000342830.4:p.Thr235Ala
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*5A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*173A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.295A>G
  hgvsp: ENSP00000445826.1:p.Thr99Ala
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.703A>G
  hgvsp: ENSP00000384136.1:p.Thr235Ala
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.255A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+2776A>G
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr235Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

11-110126113-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110126113
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110126114
    reference: chr 11
allele count: 1
allele frequency: 8.77316114542392e-6
allele num: 113984
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.699-4dupT
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*1-4dupT
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.699-4dupT
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*169-4dupT
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.251-4dupT
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-7556dupT
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+2768dupT
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.699-4dupT
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.699-4dupT
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.291-4dupT
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
hgvs: c.699-4dupT
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

11-110126127-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110126127
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110126127
    reference: chr 11
allele count: 1
allele frequency: 9.055182280819313e-6
allele num: 110434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-7569T>A
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.699-17T>A
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*169-17T>A
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.251-17T>A
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+2755T>A
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.699-17T>A
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.291-17T>A
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.699-17T>A
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*1-17T>A
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.699-17T>A
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5239
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

11-110126130-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110126130
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110126129
    reference: chr 11
allele count: 1
allele frequency: 9.093885271543415e-6
allele num: 109964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*1-21delG
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.699-21delG
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+2751delG
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-7573delG
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.291-21delG
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.699-21delG
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.699-21delG
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.699-21delG
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.251-21delG
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*169-21delG
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5238
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: TC
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

11-110126141-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110126141
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110126140
    reference: chr 11
allele count: 2
allele frequency: 1.855941797665225e-5
allele num: 107762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*1-32delC
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.699-32delC
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+2740delC
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.699-32delC
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-7584delC
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.251-32delC
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.291-32delC
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.699-32delC
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.699-32delC
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*169-32delC
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9225
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16860
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: AG
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

11-110126147-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110126147
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110126147
    reference: chr 11
allele count: 1
allele frequency: 9.490187146490529e-6
allele num: 105372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+2735C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-7589C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*1-37C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.699-37C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.699-37C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.699-37C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*169-37C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.251-37C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.699-37C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.291-37C>T
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/11-110126151-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110126151
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110126151
    reference: chr 11
allele count: 2
allele frequency: 1.914791766395405e-5
allele num: 104450
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.699-41G>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*1-41G>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*169-41G>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.699-41G>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.699-41G>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.251-41G>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.291-41G>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+2731G>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-7593G>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.699-41G>T
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16539
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10536
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

11-110126154-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110126154
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110126154
    reference: chr 11
allele count: 1
allele frequency: 9.678106188181096e-6
allele num: 103326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*1-44A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.699-44A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*169-44A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.251-44A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.699-44A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-7596A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+2728A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.291-44A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.699-44A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.699-44A>G
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5231
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

11-110126155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110126155
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110126155
    reference: chr 11
allele count: 1
allele frequency: 9.726301865504698e-6
allele num: 102814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.699-45C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.699-45C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*169-45C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-7597C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.699-45C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+2727C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*1-45C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.291-45C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.699-45C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.251-45C>T
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16127
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6582
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8422
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

11-110126158-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110126158
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110126158
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 102352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-7600A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.699-48A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.699-48A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.251-48A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*169-48A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*1-48A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.699-48A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.291-48A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.699-48A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+2724A>G
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7576
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7850
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

11-110128454-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110128454
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110128454
    reference: chr 11
allele count: 2
allele frequency: 1.649049323065253e-5
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.698+38C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.698+38C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.698+38C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+428C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.290+38C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-9896C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*38C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.698+38C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*168+38C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.250+38C>T
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

11-110128460-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110128460
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110128460
    reference: chr 11
allele count: 3
allele frequency: 2.473492406378312e-5
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.250+32A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.698+32A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+422A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.698+32A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-9902A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*168+32A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.290+32A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*32A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.698+32A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.698+32A>G
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12485
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-110128461-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110128461
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110128461
    reference: chr 11
allele count: 2
allele frequency: 1.649049323065253e-5
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.250+31C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*168+31C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.698+31C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.698+31C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+421C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-9903C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.290+31C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.698+31C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*31C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.698+31C>T
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

11-110128462-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110128462
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110128462
    reference: chr 11
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*30T>C
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.698+30T>C
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.250+30T>C
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.698+30T>C
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*168+30T>C
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.290+30T>C
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.698+30T>C
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+420T>C
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-9904T>C
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.698+30T>C
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

11-110128463-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110128463
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110128462
    reference: chr 11
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.698+28delA
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+418delA
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*28delA
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-9906delA
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.250+28delA
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*168+28delA
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.290+28delA
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.698+28delA
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.698+28delA
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.698+28delA
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: CT
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

11-110128466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110128466
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110128466
    reference: chr 11
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.698+26C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.698+26C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.698+26C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-9908C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*168+26C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+416C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*26C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.698+26C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.250+26C>T
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.290+26C>T
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8925
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

11-110128469-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110128469
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110128469
    reference: chr 11
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*168+23G>A
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.290+23G>A
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+413G>A
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.698+23G>A
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-9911G>A
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*23G>A
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.250+23G>A
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.698+23G>A
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.698+23G>A
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.698+23G>A
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34428
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

11-110128474-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110128474
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 110128474
    reference: chr 11
allele count: 4
allele frequency: 3.29777235477435e-5
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl transcript: ENST00000529774
  gene symbol: RDX
  hgvsc: ENST00000529774.1:n.250+18A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000433580
  ensembl transcript: ENST00000528900
  gene symbol: RDX
  hgvsc: ENST00000528900.1:c.-82-9916A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432829
  ensembl transcript: ENST00000530131
  gene symbol: RDX
  hgvsc: ENST00000530131.1:c.*168+18A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000431560
  ensembl transcript: ENST00000534683
  gene symbol: RDX
  hgvsc: ENST00000534683.1:c.*18A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000432112
  ensembl transcript: ENST00000528498
  gene symbol: RDX
  hgvsc: ENST00000528498.1:c.698+18A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000445826
  ensembl transcript: ENST00000544551
  gene symbol: RDX
  hgvsc: ENST00000544551.1:c.290+18A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000437301
  ensembl transcript: ENST00000530749
  gene symbol: RDX
  hgvsc: ENST00000530749.1:c.698+18A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000436277
  ensembl transcript: ENST00000530301
  gene symbol: RDX
  hgvsc: ENST00000530301.1:c.404+408A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000384136
  ensembl transcript: ENST00000405097
  gene symbol: RDX
  hgvsc: ENST00000405097.1:c.698+18A>G
  variant of: http://identifiers.org/hgnc/9944
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137710
  ensembl protein: ENSP00000342830
  ensembl transcript: ENST00000343115
  gene symbol: RDX
  hgvsc: ENST00000343115.4:c.698+18A>G
  variant of: http://identifiers.org/hgnc/9944
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

12-133454180-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454180
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454180
    reference: chr 12
allele count: 18
allele frequency: 1.497753369945082e-4
allele num: 120180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.224T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.149T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.472T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-191T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.232T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.194T>C
  hgvsp: ENSP00000320557.7:p.Val65Ala
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-191T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-191T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.194T>C
  hgvsp: ENSP00000266880.7:p.Val65Ala
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.194T>C
  hgvsp: ENSP00000392395.2:p.Val65Ala
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-191T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.194T>C
  hgvsp: ENSP00000416431.2:p.Val65Ala
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.194T>C
  hgvsp: ENSP00000398735.2:p.Val65Ala
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.388T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.194T>C
  hgvsp: ENSP00000441837.1:p.Val65Ala
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39062
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13711
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Val65Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

12-133454183-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454183
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454183
    reference: chr 12
allele count: 3
allele frequency: 2.496587996404913e-5
allele num: 120164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.229T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.221T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.191T>C
  hgvsp: ENSP00000398735.2:p.Val64Ala
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.191T>C
  hgvsp: ENSP00000266880.7:p.Val64Ala
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.191T>C
  hgvsp: ENSP00000441837.1:p.Val64Ala
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.191T>C
  hgvsp: ENSP00000320557.7:p.Val64Ala
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.385T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-194T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.146T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-194T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.191T>C
  hgvsp: ENSP00000392395.2:p.Val64Ala
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.469T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-194T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-194T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.191T>C
  hgvsp: ENSP00000416431.2:p.Val64Ala
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val64Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP

12-133454184-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454184
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454184
    reference: chr 12
allele count: 1
allele frequency: 8.319882856049386e-6
allele num: 120194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-195G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-195G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.190G>C
  hgvsp: ENSP00000398735.2:p.Val64Leu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-195G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.190G>C
  hgvsp: ENSP00000320557.7:p.Val64Leu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.220G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-195G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.190G>C
  hgvsp: ENSP00000441837.1:p.Val64Leu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.190G>C
  hgvsp: ENSP00000392395.2:p.Val64Leu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.145G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.228G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.190G>C
  hgvsp: ENSP00000266880.7:p.Val64Leu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.190G>C
  hgvsp: ENSP00000416431.2:p.Val64Leu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.384G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.468G>C
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38993
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val64Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

12-133454186-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454186
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454186
    reference: chr 12
allele count: 1
allele frequency: 8.320436656515735e-6
allele num: 120186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.188T>C
  hgvsp: ENSP00000320557.7:p.Ile63Thr
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.188T>C
  hgvsp: ENSP00000392395.2:p.Ile63Thr
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.188T>C
  hgvsp: ENSP00000266880.7:p.Ile63Thr
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.143T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.188T>C
  hgvsp: ENSP00000398735.2:p.Ile63Thr
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.218T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.188T>C
  hgvsp: ENSP00000416431.2:p.Ile63Thr
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-197T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.226T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.188T>C
  hgvsp: ENSP00000441837.1:p.Ile63Thr
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-197T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-197T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.382T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-197T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.466T>C
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile63Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-133454196-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454196
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454196
    reference: chr 12
allele count: 2
allele frequency: 1.667806334328458e-5
allele num: 119918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.216C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-207C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-207C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.178C>G
  hgvsp: ENSP00000441837.1:p.His60Asp
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.178C>G
  hgvsp: ENSP00000398735.2:p.His60Asp
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.456C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.178C>G
  hgvsp: ENSP00000392395.2:p.His60Asp
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.178C>G
  hgvsp: ENSP00000416431.2:p.His60Asp
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.133C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-207C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.178C>G
  hgvsp: ENSP00000266880.7:p.His60Asp
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.208C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.372C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-207C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.178C>G
  hgvsp: ENSP00000320557.7:p.His60Asp
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His60Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

12-133454200-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454200
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454200
    reference: chr 12
allele count: 1
allele frequency: 8.34278849362611e-6
allele num: 119864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.452A>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.129A>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.174A>C
  hgvsp: ENST00000540963.1:c.174A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-211A>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-211A>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.174A>C
  hgvsp: ENST00000450056.2:c.174A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-211A>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.368A>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.174A>C
  hgvsp: ENST00000266880.7:c.174A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.174A>C
  hgvsp: ENST00000315585.7:c.174A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.174A>C
  hgvsp: ENST00000432561.2:c.174A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.174A>C
  hgvsp: ENST00000443047.2:c.174A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.212A>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.204A>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-211A>C
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly58Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-133454201-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454201
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454201
    reference: chr 12
allele count: 2
allele frequency: 1.669365474183263e-5
allele num: 119806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.173G>A
  hgvsp: ENSP00000398735.2:p.Gly58Glu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.203G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.367G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.128G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.173G>A
  hgvsp: ENSP00000266880.7:p.Gly58Glu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-212G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.173G>A
  hgvsp: ENSP00000320557.7:p.Gly58Glu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.173G>A
  hgvsp: ENSP00000441837.1:p.Gly58Glu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.173G>A
  hgvsp: ENSP00000416431.2:p.Gly58Glu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-212G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.173G>A
  hgvsp: ENSP00000392395.2:p.Gly58Glu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.451G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-212G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-212G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.211G>A
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly58Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

12-133454209-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454209
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454209
    reference: chr 12
allele count: 1
allele frequency: 8.383916294979712e-6
allele num: 119276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-220G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.165G>A
  hgvsp: ENST00000443047.2:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.165G>A
  hgvsp: ENST00000315585.7:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-220G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.359G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.443G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.120G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-220G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.165G>A
  hgvsp: ENST00000540963.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.165G>A
  hgvsp: ENST00000432561.2:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.195G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.203G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.165G>A
  hgvsp: ENST00000266880.7:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-220G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.165G>A
  hgvsp: ENST00000450056.2:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu55Leu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

12-133454214-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454214
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454214
    reference: chr 12
allele count: 1
allele frequency: 8.406045628015669e-6
allele num: 118962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-225A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.160A>G
  hgvsp: ENSP00000416431.2:p.Lys54Glu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.160A>G
  hgvsp: ENSP00000320557.7:p.Lys54Glu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.160A>G
  hgvsp: ENSP00000392395.2:p.Lys54Glu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-225A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-225A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.160A>G
  hgvsp: ENSP00000441837.1:p.Lys54Glu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-225A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.190A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.160A>G
  hgvsp: ENSP00000266880.7:p.Lys54Glu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.438A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.198A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.354A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.115A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.160A>G
  hgvsp: ENSP00000398735.2:p.Lys54Glu
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys54Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS

12-133454220-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454220
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454220
    reference: chr 12
allele count: 3
allele frequency: 2.539145154464664e-5
allele num: 118150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-231A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-231A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.154A>T
  hgvsp: ENSP00000266880.7:p.Ser52Cys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.154A>T
  hgvsp: ENSP00000398735.2:p.Ser52Cys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.154A>T
  hgvsp: ENSP00000392395.2:p.Ser52Cys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.432A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.184A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-231A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.154A>T
  hgvsp: ENSP00000320557.7:p.Ser52Cys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-231A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.109A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.192A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.154A>T
  hgvsp: ENSP00000416431.2:p.Ser52Cys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.348A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.154A>T
  hgvsp: ENSP00000441837.1:p.Ser52Cys
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser52Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

12-133454222-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454222
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454222
    reference: chr 12
allele count: 3
allele frequency: 2.553017666882255e-5
allele num: 117508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.190C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.152C>A
  hgvsp: ENSP00000266880.7:p.Pro51His
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.430C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.152C>A
  hgvsp: ENSP00000416431.2:p.Pro51His
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.152C>A
  hgvsp: ENSP00000441837.1:p.Pro51His
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-233C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-233C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.182C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.152C>A
  hgvsp: ENSP00000398735.2:p.Pro51His
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.152C>A
  hgvsp: ENSP00000320557.7:p.Pro51His
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.152C>A
  hgvsp: ENSP00000392395.2:p.Pro51His
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-233C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.107C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.346C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-233C>A
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro51His
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

12-133454226-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454226
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454226
    reference: chr 12
allele count: 2
allele frequency: 1.713649216005484e-5
allele num: 116710
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.148T>C
  hgvsp: ENSP00000320557.7:p.Phe50Leu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-237T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.178T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.148T>C
  hgvsp: ENSP00000416431.2:p.Phe50Leu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.148T>C
  hgvsp: ENSP00000398735.2:p.Phe50Leu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.148T>C
  hgvsp: ENSP00000266880.7:p.Phe50Leu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.426T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.342T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.148T>C
  hgvsp: ENSP00000392395.2:p.Phe50Leu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.148T>C
  hgvsp: ENSP00000441837.1:p.Phe50Leu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.103T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-237T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-237T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-237T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.186T>C
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13749
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe50Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

12-133454226-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454226
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454226
    reference: chr 12
allele count: 1
allele frequency: 8.568246080027418e-6
allele num: 116710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.148T>A
  hgvsp: ENSP00000266880.7:p.Phe50Ile
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.148T>A
  hgvsp: ENSP00000441837.1:p.Phe50Ile
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.178T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-237T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.148T>A
  hgvsp: ENSP00000416431.2:p.Phe50Ile
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.103T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-237T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.148T>A
  hgvsp: ENSP00000398735.2:p.Phe50Ile
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.148T>A
  hgvsp: ENSP00000392395.2:p.Phe50Ile
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.186T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-237T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.426T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.342T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-237T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.148T>A
  hgvsp: ENSP00000320557.7:p.Phe50Ile
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe50Ile
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

12-133454232-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454232
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454232
    reference: chr 12
allele count: 2
allele frequency: 1.735960420102422e-5
allele num: 115210
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.142C>T
  hgvsp: ENSP00000392395.2:p.Leu48Phe
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-243C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.142C>T
  hgvsp: ENSP00000416431.2:p.Leu48Phe
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.180C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.142C>T
  hgvsp: ENSP00000266880.7:p.Leu48Phe
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.420C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.172C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.97C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.142C>T
  hgvsp: ENSP00000398735.2:p.Leu48Phe
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.142C>T
  hgvsp: ENSP00000441837.1:p.Leu48Phe
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-243C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.142C>T
  hgvsp: ENSP00000320557.7:p.Leu48Phe
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.336C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-243C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-243C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32167
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu48Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-133454236-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454236
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454236
    reference: chr 12
allele count: 4
allele frequency: 3.515309171441628e-5
allele num: 113788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.168C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-247C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.138C>T
  hgvsp: ENST00000315585.7:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.93C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.138C>T
  hgvsp: ENST00000443047.2:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.138C>T
  hgvsp: ENST00000450056.2:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.332C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-247C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-247C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.138C>T
  hgvsp: ENST00000266880.7:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.176C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.416C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.138C>T
  hgvsp: ENST00000432561.2:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.138C>T
  hgvsp: ENST00000540963.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-247C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys46Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-133454237-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454237
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454237
    reference: chr 12
allele count: 1
allele frequency: 8.81010695469843e-6
allele num: 113506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-248G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-248G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.175G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.415G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.137G>T
  hgvsp: ENSP00000441837.1:p.Cys46Phe
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.137G>T
  hgvsp: ENSP00000320557.7:p.Cys46Phe
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.167G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.331G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.137G>T
  hgvsp: ENSP00000398735.2:p.Cys46Phe
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.137G>T
  hgvsp: ENSP00000416431.2:p.Cys46Phe
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-248G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-248G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.137G>T
  hgvsp: ENSP00000266880.7:p.Cys46Phe
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.137G>T
  hgvsp: ENSP00000392395.2:p.Cys46Phe
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.92G>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys46Phe
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

12-133454243-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454243
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454243
    reference: chr 12
allele count: 7
allele frequency: 6.277013576283649e-5
allele num: 111518
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-3T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-3T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-3T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-3T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-3T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-3T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-3T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-3T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-3T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-3T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-3T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-3T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-3T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-3T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-3T>C
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26685
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.134-3T>C
num of homozygotes: 1
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

12-133454243-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454243
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454243
    reference: chr 12
allele count: 1
allele frequency: 8.967162251833785e-6
allele num: 111518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-3T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-3T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-3T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-3T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-3T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-3T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-3T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-3T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-3T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-3T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-3T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-3T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-3T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-3T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-3T>A
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.134-3T>A
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

12-133454247-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454247
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454245
    reference: chr 12
allele count: 12
allele frequency: 1.090294561247297e-4
allele num: 110062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-9_-251-8delCT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-9_134-8delCT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-9_164-8delCT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-9_134-8delCT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-9_-251-8delCT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-9_-251-8delCT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-9_134-8delCT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-9_134-8delCT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-9_134-8delCT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-9_134-8delCT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-9_89-8delCT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-9_328-8delCT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-9_-251-8delCT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-9_172-8delCT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-9_412-8delCT
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24047
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11454
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.134-9_134-8delCT
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: AAG
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

12-133454253-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454253
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454253
    reference: chr 12
allele count: 2
allele frequency: 1.861642713530419e-5
allele num: 107432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-13C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-13C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-13C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-13C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-13C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-13C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-13C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-13C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-13C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-13C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-13C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-13C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-13C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-13C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-13C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14776
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS

12-133454254-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454254
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454254
    reference: chr 12
allele count: 1
allele frequency: 9.33079535699623e-6
allele num: 107172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-14C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-14C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-14C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-14C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-14C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-14C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-14C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-14C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-14C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-14C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-14C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-14C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-14C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-14C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-14C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10103
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

12-133454255-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454255
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454255
    reference: chr 12
allele count: 2
allele frequency: 1.871397559697582e-5
allele num: 106872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-15C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-15C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-15C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-15C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-15C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-15C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-15C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-15C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-15C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-15C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-15C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-15C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-15C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-15C>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-15C>A
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17582
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15876
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-133454266-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454266
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454266
    reference: chr 12
allele count: 1
allele frequency: 9.771159445779837e-6
allele num: 102342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-26G>A
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9850
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

12-133454267-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454267
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454267
    reference: chr 12
allele count: 2
allele frequency: 1.96513844400338e-5
allele num: 101774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-27C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-27C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-27C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-27C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-27C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-27C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-27C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-27C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-27C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-27C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-27C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-27C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-27C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-27C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-27C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9175
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

12-133454267-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454267
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454267
    reference: chr 12
allele count: 1
allele frequency: 9.825692220016901e-6
allele num: 101774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-27C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-27C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-27C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-27C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-27C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-27C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-27C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-27C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-27C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-27C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-27C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-27C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-27C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-27C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-27C>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

12-133454270-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454270
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454270
    reference: chr 12
allele count: 1
allele frequency: 9.934827531394055e-6
allele num: 100656
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-30T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-30T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-30T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-30T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-30T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-30T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-30T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-30T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-30T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-30T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-30T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-30T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-30T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-30T>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-30T>A
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

12-133454271-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454271
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454271
    reference: chr 12
allele count: 5
allele frequency: 4.997301457213105e-5
allele num: 100054
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-31A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-31A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-31A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-31A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-31A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-31A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-31A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-31A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-31A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-31A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-31A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-31A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-31A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-31A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-31A>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8903
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

12-133454274-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454274
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454274
    reference: chr 12
allele count: 1
allele frequency: 1.016012354710233e-5
allele num: 98424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-34C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5602
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10281
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-133454275-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454275
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454275
    reference: chr 12
allele count: 3
allele frequency: 3.053683760509761e-5
allele num: 98242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-35T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-35T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-35T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-35T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-35T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-35T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-35T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-35T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-35T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-35T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-35T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-35T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-35T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-35T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-35T>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10632
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-133454275-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454275
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454275
    reference: chr 12
allele count: 1
allele frequency: 1.017894586836587e-5
allele num: 98242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-35T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-35T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-35T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-35T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-35T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-35T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-35T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-35T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-35T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-35T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-35T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-35T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-35T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-35T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-35T>C
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9497
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

12-133454277-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454277
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454277
    reference: chr 12
allele count: 3
allele frequency: 3.116235587410408e-5
allele num: 96270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-37G>A
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11596
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23235
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

12-133454278-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454278
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454278
    reference: chr 12
allele count: 5
allele frequency: 5.306053145428304e-5
allele num: 94232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-38C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12492
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22645
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10845
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-133454278-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454278
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454278
    reference: chr 12
allele count: 11
allele frequency: 1.167331691994227e-4
allele num: 94232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-38C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-38C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-38C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-38C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-38C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-38C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-38C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-38C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-38C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-38C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-38C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-38C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-38C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-38C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-38C>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22645
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

12-133454281-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454281
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454282
    reference: chr 12
allele count: 1
allele frequency: 1.065416577881952e-5
allele num: 93860
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-42dupA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-42dupA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-42dupA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-42dupA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-42dupA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-42dupA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-42dupA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-42dupA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-42dupA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-42dupA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-42dupA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-42dupA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-42dupA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-42dupA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-42dupA
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12456
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-133454285-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454285
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454283
    reference: chr 12
allele count: 1
allele frequency: 1.107223526285487e-5
allele num: 90316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-47_412-46delCA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-47_-251-46delCA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-47_134-46delCA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-47_-251-46delCA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-47_164-46delCA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-47_-251-46delCA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-47_134-46delCA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-47_134-46delCA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-47_134-46delCA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-47_134-46delCA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-47_-251-46delCA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-47_89-46delCA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-47_328-46delCA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-47_172-46delCA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-47_134-46delCA
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12384
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21172
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: CTG
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

12-133454292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133454292
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133454292
    reference: chr 12
allele count: 1
allele frequency: 1.18874967309384e-5
allele num: 84122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.89-52G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.172-52G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-52G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.328-52G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-52G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-52G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.134-52G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.134-52G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.134-52G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.134-52G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-52G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.134-52G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.134-52G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-52G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.164-52G>A
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

12-133463743-G-GCCCGGCCCCGGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133463743
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133463756
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 4350
alternate allele: GCCCGGCCCCGGCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24812
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

12-133463748-G-GCCCCGGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133463748
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133463755
    reference: chr 12
allele count: 1
allele frequency: 2.197802197802198e-4
allele num: 4550
alternate allele: GCCCCGGC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.163+27_163+33dupGCCGGGG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.133+27_133+33dupGCCGGGG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.133+27_133+33dupGCCGGGG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.171+27_171+33dupGCCGGGG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.133+27_133+33dupGCCGGGG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.133+27_133+33dupGCCGGGG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.133+27_133+33dupGCCGGGG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.327+27_327+33dupGCCGGGG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.133+27_133+33dupGCCGGGG
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24804
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
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: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

12-133463754-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133463754
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133463754
    reference: chr 12
allele count: 1
allele frequency: 2.011263073209976e-4
allele num: 4972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.163+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.133+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-9514C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-9514C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-9514C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.133+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.327+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.133+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-9514C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-9514C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.171+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.133+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.133+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.133+28C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24738
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-133463766-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133463766
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133463766
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 7008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.133+16C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.163+16C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.133+16C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-9526C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-9526C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.133+16C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.171+16C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.133+16C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-9526C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.133+16C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.133+16C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.327+16C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-9526C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-9526C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

12-133463773-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133463773
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133463773
    reference: chr 12
allele count: 2
allele frequency: 2.43842965130456e-4
allele num: 8202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.133+9C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.327+9C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.163+9C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.133+9C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.133+9C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-9533C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-9533C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-9533C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-9533C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.133+9C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.133+9C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.171+9C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.133+9C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-9533C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25033
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-133463775-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133463775
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133463775
    reference: chr 12
allele count: 450
allele frequency: 5.184331797235023e-2
allele num: 8680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-9535G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.327+7G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-9535G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-9535G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.133+7G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.133+7G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.133+7G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.133+7G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.133+7G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.163+7G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-9535G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.133+7G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-9535G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.171+7G>A
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 7.5e0
  variant carriers: 164
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 24459
  bin: 2.5e0
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 2.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 2.25e1
  variant carriers: 84
genotype quality: GenotypeQuality
hgvs: c.133+7G>A
num of homozygotes: 18
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

12-133463818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133463818
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133463818
    reference: chr 12
allele count: 4
allele frequency: 3.894080996884735e-4
allele num: 10272
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.97C>T
  hgvsp: ENST00000432561.2:c.97C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.97C>T
  hgvsp: ENST00000443047.2:c.97C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.97C>T
  hgvsp: ENST00000450056.2:c.97C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.97C>T
  hgvsp: ENST00000315585.7:c.97C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.291C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-9578C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.127C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-9578C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.97C>T
  hgvsp: ENST00000540963.1:c.97C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-9578C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.97C>T
  hgvsp: ENST00000266880.7:c.97C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.135C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-9578C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-9578C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu33Leu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

12-133463822-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133463822
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133463822
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 10260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.93C>T
  hgvsp: ENST00000266880.7:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.123C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.93C>T
  hgvsp: ENST00000540963.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-9582C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-9582C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.93C>T
  hgvsp: ENST00000432561.2:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.131C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-9582C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.93C>T
  hgvsp: ENST00000315585.7:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.93C>T
  hgvsp: ENST00000450056.2:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.287C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-9582C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-9582C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.93C>T
  hgvsp: ENST00000443047.2:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29219
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val31Val
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

12-133463830-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133463830
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133463830
    reference: chr 12
allele count: 3
allele frequency: 2.975600079349336e-4
allele num: 10082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-9590C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.85C>G
  hgvsp: ENSP00000392395.2:p.Pro29Ala
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.85C>G
  hgvsp: ENSP00000266880.7:p.Pro29Ala
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.115C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.85C>G
  hgvsp: ENSP00000398735.2:p.Pro29Ala
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.85C>G
  hgvsp: ENSP00000441837.1:p.Pro29Ala
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.85C>G
  hgvsp: ENSP00000320557.7:p.Pro29Ala
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-9590C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.123C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-9590C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.85C>G
  hgvsp: ENSP00000416431.2:p.Pro29Ala
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.279C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-9590C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-9590C>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro29Ala
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-133463843-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133463843
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133463843
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 9542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.72G>C
  hgvsp: ENST00000315585.7:c.72G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.72G>C
  hgvsp: ENST00000450056.2:c.72G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.266G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-251-9603G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-251-9603G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.72G>C
  hgvsp: ENST00000432561.2:c.72G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.72G>C
  hgvsp: ENST00000266880.7:c.72G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.102G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.72G>C
  hgvsp: ENST00000443047.2:c.72G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.110G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-251-9603G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.72G>C
  hgvsp: ENST00000540963.1:c.72G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-251-9603G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000499045
  gene symbol: CHFR
  hgvsc: ENST00000499045.2:n.412-9603G>C
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30923
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala24Ala
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2375
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45421
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2610
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552312946289972e-5
allele num: 64420
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.22e-1

DP
type: SiteQuality
SIO_000300: 1.54857e6

QD
type: SiteQuality
SIO_000300: 1.08e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.582e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

FS
type: SiteQuality
SIO_000300: 1.451e0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44633
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2567
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5238
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 417
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560500608595237e-5
allele num: 64082
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e0

FS
type: SiteQuality
SIO_000300: 1.1666e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.204e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

DP
type: SiteQuality
SIO_000300: 1.539957e6

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.959e0

GenotypeQuality
all individuals: 656
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41588
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5238
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4879
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589269253997012e-5
allele num: 62922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11120
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.884e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.171e0

DP
type: SiteQuality
SIO_000300: 1.506289e6

VQSLOD
type: SiteQuality
SIO_000300: -3.042e0

MQ
type: SiteQuality
SIO_000300: 5.79e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 4.75e0

GenotypeQuality
all individuals: 1241
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6407
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2354
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38873
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5238
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 870
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61020224140152e-5
allele num: 62104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.898e0

DP
type: SiteQuality
SIO_000300: 1.478528e6

MQ
type: SiteQuality
SIO_000300: 6.126e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.356e0

QD
type: SiteQuality
SIO_000300: 1.197e1

GenotypeQuality
all individuals: 1940
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2734
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10979
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27462
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3705
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1882
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.672128954584977e-5
allele num: 59804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.072e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

DP
type: SiteQuality
SIO_000300: 1.363927e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
all individuals: 165
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26221
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11546
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1894
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4113
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2970
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59498
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.372673973999491e-5
allele num: 15692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.665e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 1.083e1

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

DP
type: SiteQuality
SIO_000300: 1.347627e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.257e0

GenotypeQuality
all individuals: 12847
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6723
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4449
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.443407596157157e-5
allele num: 58082
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6252
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

BaseQRankSum
type: SiteQuality
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DP
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MQRankSum
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SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 6.819e0

ClippingRankSum
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SIO_000300: 5.37e-1

VQSLOD
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InbreedingCoeff
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SIO_000300: -4.0e-3

MQ
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QD
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SIO_000300: 1.378e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.770977225232884e-5
allele num: 56466
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10466
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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QD
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InbreedingCoeff
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ReadPosRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 10422
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.582303421099767e-5
allele num: 55830
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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DP
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FS
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.815936660129295e-5
allele num: 55068
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.39e-1

FS
type: SiteQuality
SIO_000300: 1.042e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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MQ
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BaseQRankSum
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SIO_000300: -5.181e0

VQSLOD
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SIO_000300: -2.555e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.82575038340758e-5
allele num: 54772
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.199349e6

ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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QD
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MQRankSum
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FS
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BaseQRankSum
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SIO_000300: -9.25e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54390
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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FS
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QD
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DP
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Latino
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South Asian
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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African
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
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MQ
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DP
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MQRankSum
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FS
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QD
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -2.317e0

MQRankSum
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SIO_000300: 3.86e-1

DP
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ReadPosRankSum
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SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 7.822e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.89e1

QD
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SIO_000300: 1.094e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.458e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
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SIO_000300: -1.845e0

MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: 3.3e0

FS
type: SiteQuality
SIO_000300: 1.157e0

DP
type: SiteQuality
SIO_000300: 2.067431e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 1.5e-3

DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

MQRankSum
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MQ
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SIO_000300: 6.063e1

QD
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SIO_000300: 1.514e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

FS
type: SiteQuality
SIO_000300: 8.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.322e0

MQRankSum
type: SiteQuality
SIO_000300: -1.104e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
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SIO_000300: -1.104e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 3.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.868e0

DP
type: SiteQuality
SIO_000300: 2.067423e6

VQSLOD
type: SiteQuality
SIO_000300: -3.195e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
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: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.64e-1

BaseQRankSum
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SIO_000300: -6.223e0

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.92e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.41e-1

FS
type: SiteQuality
SIO_000300: 8.119e0

DP
type: SiteQuality
SIO_000300: 2.067467e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

South Asian
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allele count: 4
allele frequency: 2.423948612289419e-4
allele num: 16502
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: 10382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

VQSLOD
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DP
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ReadPosRankSum
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QD
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BaseQRankSum
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FS
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
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SIO_000300: -6.25e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 18

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 18
allele frequency: 1.116071428571429e-3
allele num: 16128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.906e1

ClippingRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
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allele frequency: 2.9296875e-4
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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MQ
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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FS
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.509753004408479e-5
allele num: 66236
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South Asian
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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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MQ
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FS
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QD
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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DP
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8638
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

South Asian
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allele num: 16130
num of homozygotes: 0

African
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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QD
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66094
num of homozygotes: 0

Other
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

African
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East Asian
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ClippingRankSum
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66066
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Other
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African
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Latino
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European (Finnish)
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East Asian
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South Asian
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VQSLOD
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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African
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DP
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QD
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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FS
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MQ
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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SIO_000300: -1.742e0

DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.525134211810639e-5
allele num: 65568
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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DP
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 15820
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.984025559105431e-5
allele num: 10016
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.07399096246657e-5
allele num: 65062
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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SIO_000300: -1.26e0

MQRankSum
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QD
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DP
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FS
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -3.0e-4

ClippingRankSum
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SIO_000300: -4.06e-1

ReadPosRankSum
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SIO_000300: 9.62e-1

MQ
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SIO_000300: 5.935e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

South Asian
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allele frequency: 1.270486596366408e-4
allele num: 15742
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.546838262591263e-5
allele num: 64648
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
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InbreedingCoeff
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ReadPosRankSum
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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Other
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African
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Latino
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European (Finnish)
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
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DP
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VQSLOD
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InbreedingCoeff
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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East Asian
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BaseQRankSum
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QD
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FS
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MQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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African
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Other
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East Asian
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Latino
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South Asian
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -1.76e-1

QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.606838705530739e-5
allele num: 62234
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.579813133307015e-5
allele num: 15198
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Latino
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allele num: 10944
num of homozygotes: 0

East Asian
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allele frequency: 1.183151916706105e-4
allele num: 8452
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FS
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: -5.0e-4

MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 10922
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.61134386077989e-5
allele num: 62060
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: 5.15e-1

DP
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InbreedingCoeff
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QD
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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SIO_000300: 0.0e0

MQ
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ReadPosRankSum
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SIO_000300: -3.78e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.3457139012246e-4
allele num: 14862
num of homozygotes: 1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 5
allele frequency: 5.206164098292378e-4
allele num: 9604
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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SIO_000300: 2.04e0

ReadPosRankSum
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SIO_000300: 1.11e0

InbreedingCoeff
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MQRankSum
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ClippingRankSum
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FS
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MQ
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DP
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60856
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 1.041232819658476e-4
allele num: 9604
num of homozygotes: 0

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

InbreedingCoeff
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FS
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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QD
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DP
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BaseQRankSum
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GenotypeDepth
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variant carriers: 4

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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South Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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allele num: 60002
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Latino
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DP
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ClippingRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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East Asian
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Latino
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Other
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DP
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.277e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3398
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.716856093122274e-5
allele num: 58246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6100
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8064
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

FS
type: SiteQuality
SIO_000300: 4.058e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.677e1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.358912e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.443170471370037e-5
allele num: 58086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.299e0

DP
type: SiteQuality
SIO_000300: 1.346822e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.392e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

QD
type: SiteQuality
SIO_000300: 1.589e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5926
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55416
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.286008230452675e-4
allele num: 7776
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

FS
type: SiteQuality
SIO_000300: 8.468e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.033e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

DP
type: SiteQuality
SIO_000300: 1.219623e6

QD
type: SiteQuality
SIO_000300: 7.37e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.030044660982542e-4
allele num: 9852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5910
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13466
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 1.7536e1

BaseQRankSum
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SIO_000300: -2.647e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

QD
type: SiteQuality
SIO_000300: 1.143e1

DP
type: SiteQuality
SIO_000300: 1.208207e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13466
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9020
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.817983492709886e-5
allele num: 55006
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

DP
type: SiteQuality
SIO_000300: 1.208207e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.841824142630862e-5
allele num: 54294
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.922e1

ReadPosRankSum
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BaseQRankSum
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SIO_000300: -2.009e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

FS
type: SiteQuality
SIO_000300: 1.059e0

VQSLOD
type: SiteQuality
SIO_000300: -1.386e0

QD
type: SiteQuality
SIO_000300: 1.021e1

ClippingRankSum
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SIO_000300: 1.96e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 5
allele frequency: 5.626828719333784e-4
allele num: 8886
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South Asian
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Other
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European (Non-Finnish)
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQ
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MQRankSum
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BaseQRankSum
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FS
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DP
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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num of homozygotes: 0

FS
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MQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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BaseQRankSum
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DP
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QD
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
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Latino
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allele num: 9592
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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African
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MQ
type: SiteQuality
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FS
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ReadPosRankSum
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 1
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allele num: 8768
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South Asian
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European (Finnish)
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East Asian
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Other
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Latino
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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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East Asian
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African
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Other
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DP
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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VQSLOD
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FS
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BaseQRankSum
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QD
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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East Asian
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African
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FS
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MQ
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QD
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ClippingRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 5987
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 11
allele frequency: 8.843865573243286e-4
allele num: 12438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50382
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.106819e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

QD
type: SiteQuality
SIO_000300: 1.425e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

FS
type: SiteQuality
SIO_000300: 2.952e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1589
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.993858914543207e-5
allele num: 50154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.239e0

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

InbreedingCoeff
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SIO_000300: 7.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.608e1

FS
type: SiteQuality
SIO_000300: 7.456e0

DP
type: SiteQuality
SIO_000300: 1.098471e6

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 5.845e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.74e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 3454
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.203659123736158e-4
allele num: 8308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7066
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.107e1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e0

DP
type: SiteQuality
SIO_000300: 1.081661e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.14e-1

QD
type: SiteQuality
SIO_000300: 1.598e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

GenotypeDepth
all individuals: 150
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 495
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variant carriers: 0

GenotypeDepth
all individuals: 192
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 1164
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GenotypeQuality
all individuals: 384
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variant carriers: 0

GenotypeQuality
all individuals: 711
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GenotypeQuality
all individuals: 1620
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5681
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6620
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.904719501335708e-5
allele num: 11230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44372
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.88e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.076e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.071449e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

QD
type: SiteQuality
SIO_000300: 9.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.942e-1

GenotypeDepth
all individuals: 1456
bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 612
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 116
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3138
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.46e-2

MQ
type: SiteQuality
SIO_000300: 4.712e1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 1.382e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 1.10991e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 288
bin: 3.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 3.050640634533252e-4
allele num: 3278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 982
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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SIO_000300: 1.17446e5

BaseQRankSum
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.662e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 223
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1076
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.791736460078169e-4
allele num: 3582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.098e0

FS
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ClippingRankSum
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DP
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MQ
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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African
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East Asian
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MQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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FS
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VQSLOD
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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African
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East Asian
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MQRankSum
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FS
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MQ
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QD
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

Latino
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num of homozygotes: 0

African
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East Asian
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European (Non-Finnish)
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allele frequency: 5.817307692307692e-2
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Other
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South Asian
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allele frequency: 5.201837873318018e-2
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QD
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InbreedingCoeff
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DP
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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FS
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MQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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Latino
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Other
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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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DP
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ClippingRankSum
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FS
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BaseQRankSum
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QD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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Latino
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African
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BaseQRankSum
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ReadPosRankSum
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FS
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DP
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MQ
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QD
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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