1-33476327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476327
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476327
    reference: chr 1
allele count: 2
allele frequency: 1.774622892635315e-5
allele num: 112700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.392G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*103G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.501G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*103G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20309C>T
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28458
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7205
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-33476332-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476332
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476332
    reference: chr 1
allele count: 3
allele frequency: 2.617572637640695e-5
allele num: 114610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.387G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*98G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20304C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.496G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*98G>A
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30271
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4084
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 534
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-33476347-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476347
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476347
    reference: chr 1
allele count: 16
allele frequency: 1.351922264469793e-4
allele num: 118350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.481G>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*83G>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.372G>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20289C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*83G>T
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11211
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 777
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32034
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 525
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 35
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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

1-33476350-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476350
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476350
    reference: chr 1
allele count: 329
allele frequency: 2.770293027955541e-3
allele num: 118760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.478G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*80G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.369G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20286C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*80G>A
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 32042
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
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  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 891
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genotype depth: GenotypeDepth
  all individuals: 660
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  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 32
genotype depth: GenotypeDepth
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  variant carriers: 9
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 2518
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  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 460
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genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 279
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

1-33476353-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476353
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476353
    reference: chr 1
allele count: 32033
allele frequency: 3.610979596437831e-1
allele num: 88710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*77G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20283C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.366G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.475G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*77G>A
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 7552
  bin: 4.25e1
  variant carriers: 4453
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 6.25e1
  variant carriers: 1281
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 9.75e1
  variant carriers: 1451
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 2.25e1
  variant carriers: 1968
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.25e1
  variant carriers: 482
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 1.75e1
  variant carriers: 716
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.75e1
  variant carriers: 702
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 6.75e1
  variant carriers: 1011
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 828
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 2.75e1
  variant carriers: 3569
genotype depth: GenotypeDepth
  all individuals: 8436
  bin: 3.75e1
  variant carriers: 5081
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 5.75e1
  variant carriers: 1785
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 4.75e1
  variant carriers: 3264
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 5.25e1
  variant carriers: 2434
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.75e1
  variant carriers: 391
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.25e1
  variant carriers: 301
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 3.25e1
  variant carriers: 4745
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 2.75e1
  variant carriers: 1027
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 5.25e1
  variant carriers: 1123
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 3.75e1
  variant carriers: 1084
genotype quality: GenotypeQuality
  all individuals: 4461
  bin: 6.25e1
  variant carriers: 1156
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 3.25e1
  variant carriers: 1145
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 7.5e0
  variant carriers: 629
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 4.75e1
  variant carriers: 1115
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 4.25e1
  variant carriers: 1129
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 7.75e1
  variant carriers: 1047
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 7.25e1
  variant carriers: 1088
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 1.25e1
  variant carriers: 709
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 2.25e1
  variant carriers: 935
genotype quality: GenotypeQuality
  all individuals: 9999
  bin: 2.5e0
  variant carriers: 438
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 1140
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 8.25e1
  variant carriers: 946
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

1-33476358-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476358
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476358
    reference: chr 1
allele count: 3
allele frequency: 2.478519497686715e-5
allele num: 121040
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20278C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*72G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.361G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*121G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*72G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.470G>A
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/1-33476365-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476365
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476365
    reference: chr 1
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.463G>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*114G>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.354G>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20271C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*65G>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*65G>T
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8210
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-33476368-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476368
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476368
    reference: chr 1
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*62T>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20268A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.351T>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*62T>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*111T>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.460T>G
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

1-33476370-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476370
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476370
    reference: chr 1
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.458C>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*109C>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20266G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*60C>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*60C>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.349C>G
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9264
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4408
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

1-33476372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476372
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476372
    reference: chr 1
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*58C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.347C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*107C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.456C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*58C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20264G>A
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8920
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29399
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-33476373-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476373
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476373
    reference: chr 1
allele count: 3
allele frequency: 2.475615190374808e-5
allele num: 121182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*57G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.455G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20263C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.346G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*106G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*57G>A
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8216
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29401
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 92
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3490
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

1-33476382-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476382
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476382
    reference: chr 1
allele count: 3
allele frequency: 2.474471700291988e-5
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*48G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.337G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*97G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20254C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.446G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*48G>A
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

1-33476383-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476383
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476383
    reference: chr 1
allele count: 9
allele frequency: 7.422802850356295e-5
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.336C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20253G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*47C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*47C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*96C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.445C>T
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3549
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

1-33476385-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476385
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476385
    reference: chr 1
allele count: 21290
allele frequency: 2.172271651293772e-1
allele num: 98008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*45G>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.334G>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*45G>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20251C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.443G>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*94G>C
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 2.75e1
  variant carriers: 982
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 9.75e1
  variant carriers: 1672
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 6.75e1
  variant carriers: 1392
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 2.25e1
  variant carriers: 442
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 3.75e1
  variant carriers: 2179
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 5.75e1
  variant carriers: 2354
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 8.25e1
  variant carriers: 553
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 4.75e1
  variant carriers: 2817
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 4.25e1
  variant carriers: 2612
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 5.25e1
  variant carriers: 2708
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 3.25e1
  variant carriers: 1565
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 6.25e1
  variant carriers: 1911
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 7.25e1
  variant carriers: 1051
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 9.25e1
  variant carriers: 296
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 8.75e1
  variant carriers: 429
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.75e1
  variant carriers: 696
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 4.75e1
  variant carriers: 636
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 1.25e1
  variant carriers: 700
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 7.75e1
  variant carriers: 541
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.5e0
  variant carriers: 750
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 8.75e1
  variant carriers: 527
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 2.75e1
  variant carriers: 687
genotype quality: GenotypeQuality
  all individuals: 5558
  bin: 2.5e0
  variant carriers: 447
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 4.25e1
  variant carriers: 683
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 7.25e1
  variant carriers: 636
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 3.25e1
  variant carriers: 656
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 5.75e1
  variant carriers: 681
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 1.75e1
  variant carriers: 610
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 5.25e1
  variant carriers: 870
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-33476385-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476385
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476385
    reference: chr 1
allele count: 14
allele frequency: 1.428454820014693e-4
allele num: 98008
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20251C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*94G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.334G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*45G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.443G>A
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5558
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15749
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

1-33476386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476386
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476386
    reference: chr 1
allele count: 2
allele frequency: 1.649647800194658e-5
allele num: 121238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.442C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.333C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20250G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*93C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*44C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

1-33476387-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476387
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476387
    reference: chr 1
allele count: 21291
allele frequency: 2.101569440331655e-1
allele num: 101310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.441G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*43G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*43G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*92G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20249C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.332G>A
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 5.25e1
  variant carriers: 2625
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 2.75e1
  variant carriers: 912
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 3.75e1
  variant carriers: 2096
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 3.25e1
  variant carriers: 1517
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 450
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.25e1
  variant carriers: 320
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 4.75e1
  variant carriers: 2824
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 2.25e1
  variant carriers: 406
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 9.75e1
  variant carriers: 1731
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 8.25e1
  variant carriers: 567
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 6.25e1
  variant carriers: 1965
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 7.75e1
  variant carriers: 762
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 6.75e1
  variant carriers: 1510
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 4.25e1
  variant carriers: 2449
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 7.25e1
  variant carriers: 1108
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 5.75e1
  variant carriers: 2419
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 4.75e1
  variant carriers: 632
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 3.25e1
  variant carriers: 656
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 8.25e1
  variant carriers: 673
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 7.5e0
  variant carriers: 754
genotype quality: GenotypeQuality
  all individuals: 8204
  bin: 6.25e1
  variant carriers: 584
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 7.75e1
  variant carriers: 534
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 7.25e1
  variant carriers: 631
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 2.25e1
  variant carriers: 854
genotype quality: GenotypeQuality
  all individuals: 4258
  bin: 2.5e0
  variant carriers: 457
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 3.75e1
  variant carriers: 941
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 2.75e1
  variant carriers: 691
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 1.25e1
  variant carriers: 686
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 1.75e1
  variant carriers: 596
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

1-33476388-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476388
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476388
    reference: chr 1
allele count: 4
allele frequency: 3.299023489047242e-5
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*42C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*91C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.440C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*42C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.331C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20248G>A
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-33476389-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476389
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476389
    reference: chr 1
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20247G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*41C>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.439C>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*90C>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.330C>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*41C>G
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5505
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34336
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11560
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

1-33476392-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476392
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476392
    reference: chr 1
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*38A>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.436A>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20244T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.327A>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*38A>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*87A>C
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34465
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-33476395-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476395
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476395
    reference: chr 1
allele count: 51
allele frequency: 4.202442360618995e-4
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*35A>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*84A>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20241T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.324A>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*35A>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.433A>G
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-33476396-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476396
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476396
    reference: chr 1
allele count: 18711
allele frequency: 1.761665348548187e-1
allele num: 106212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.432C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*83C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*34C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.323C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*34C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20240G>A
canonical: false
consequence: 3' UTR
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 6.25e1
  variant carriers: 1798
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 3.25e1
  variant carriers: 1104
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 4.75e1
  variant carriers: 2242
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 8.75e1
  variant carriers: 413
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 6.75e1
  variant carriers: 1408
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 5.75e1
  variant carriers: 2014
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 9.25e1
  variant carriers: 306
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 3.75e1
  variant carriers: 1585
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 7.75e1
  variant carriers: 761
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 2.25e1
  variant carriers: 292
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 9.75e1
  variant carriers: 1663
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 2.75e1
  variant carriers: 664
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.25e1
  variant carriers: 579
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 4.25e1
  variant carriers: 1904
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 5.25e1
  variant carriers: 2223
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 7.25e1
  variant carriers: 1103
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 7.5e0
  variant carriers: 435
genotype quality: GenotypeQuality
  all individuals: 3180
  bin: 2.5e0
  variant carriers: 257
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 1.25e1
  variant carriers: 416
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 7.25e1
  variant carriers: 527
genotype quality: GenotypeQuality
  all individuals: 4091
  bin: 6.75e1
  variant carriers: 661
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 3.25e1
  variant carriers: 457
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 5.25e1
  variant carriers: 702
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 3.75e1
  variant carriers: 688
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 8.75e1
  variant carriers: 482
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 2.25e1
  variant carriers: 517
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 8.25e1
  variant carriers: 590
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 1.75e1
  variant carriers: 333
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 7.75e1
  variant carriers: 457
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

1-33476398-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476398
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476398
    reference: chr 1
allele count: 5
allele frequency: 4.120041530018623e-5
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20238G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.321C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*81C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*32C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.430C>T
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33308
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

1-33476403-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476403
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476403
    reference: chr 1
allele count: 860
allele frequency: 7.086705011783707e-3
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.425C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*27C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*76C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*27C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20233G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.316C>T
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 7.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 7118
  bin: 3.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 4.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 9.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 6.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 7.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 5.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 4.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 3.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 6.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 5.25e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 8720
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 8.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 9.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 2
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

1-33476404-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476404
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476404
    reference: chr 1
allele count: 18590
allele frequency: 1.717257560921536e-1
allele num: 108254
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20232T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.315A>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*26A>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*75A>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*26A>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.424A>C
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 4.25e1
  variant carriers: 1806
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 5.75e1
  variant carriers: 2077
genotype depth: GenotypeDepth
  all individuals: 8513
  bin: 2.75e1
  variant carriers: 585
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 3.75e1
  variant carriers: 1465
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 7.75e1
  variant carriers: 848
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 5.25e1
  variant carriers: 2156
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 8.75e1
  variant carriers: 432
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 3.25e1
  variant carriers: 1016
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 2.25e1
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 8.25e1
  variant carriers: 589
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 6.75e1
  variant carriers: 1463
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 6.25e1
  variant carriers: 1762
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 4.75e1
  variant carriers: 2181
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 7.25e1
  variant carriers: 1162
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 9.75e1
  variant carriers: 1797
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.25e1
  variant carriers: 325
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 4.75e1
  variant carriers: 460
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 1.25e1
  variant carriers: 402
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 2.5e0
  variant carriers: 259
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 7.5e0
  variant carriers: 419
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 1.75e1
  variant carriers: 338
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 5.75e1
  variant carriers: 545
genotype quality: GenotypeQuality
  all individuals: 12988
  bin: 6.25e1
  variant carriers: 462
genotype quality: GenotypeQuality
  all individuals: 4370
  bin: 6.75e1
  variant carriers: 650
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.25e1
  variant carriers: 589
genotype quality: GenotypeQuality
  all individuals: 15673
  bin: 9.75e1
  variant carriers: 10704
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 678
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 471
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 4.25e1
  variant carriers: 518
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-33476407-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476407
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476407
    reference: chr 1
allele count: 2
allele frequency: 1.648505629646725e-5
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*23G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*23G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.312G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20229C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*72G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.421G>A
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12799
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12271
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-33476413-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476413
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476413
    reference: chr 1
allele count: 33
allele frequency: 2.719899775814321e-4
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*17G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.415G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.306G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*66G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20223C>T
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12767
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26613
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

1-33476414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476414
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476414
    reference: chr 1
allele count: 4
allele frequency: 3.296739524610161e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*65C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*16C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20222G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*16C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.305C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.414C>T
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12774
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

1-33476416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476416
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476416
    reference: chr 1
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*14G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*63G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.303G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*14G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.412G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20220C>T
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-33476418-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476418
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476418
    reference: chr 1
allele count: 2
allele frequency: 1.648532805802836e-5
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20218G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.410C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*61C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*12C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*12C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.301C>T
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12248
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

1-33476428-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476428
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476428
    reference: chr 1
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.400A>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.*2A>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*51A>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.*2A>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.291A>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20208T>C
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3519
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26424
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-33476430-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476430
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476430
    reference: chr 1
allele count: 11
allele frequency: 9.070818352739387e-5
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.573G>T
  hgvsp: ENSP00000449003.1:p.Ter191TyrextTer17
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*49G>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.289G>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.398G>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.699G>T
  hgvsp: ENSP00000362548.2:p.Ter233TyrextTer17
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20206C>A
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12234
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ter191TyrextTer17
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

1-33476431-T-TAGGATGTGGCTTTGGAGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476431
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476449
    reference: chr 1
allele count: 202
allele frequency: 1.668538954602524e-3
allele num: 121064
alternate allele: TAGGATGTGGCTTTGGAGA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsp: ENSP00000449003.1:p.Phe185_Ser190dup
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsp: ENSP00000362548.2:p.Phe227_Ser232dup
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
canonical: false
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 5.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12678
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 5.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 4.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17168
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 3.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 8503
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 26141
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 11916
  bin: 9.75e1
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 9
hgvs: p.Phe185_Ser190dup
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-33476432-A-AGGATGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476432
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476438
    reference: chr 1
allele count: 141
allele frequency: 1.164865668682463e-3
allele num: 121044
alternate allele: AGGATGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.286_287insACATCC
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*46_*47insACATCC
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.696_697insACATCC
  hgvsp: ENSP00000362548.2:p.Thr231_Ser232dup
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.395_396insACATCC
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.570_571insACATCC
  hgvsp: ENSP00000449003.1:p.Thr189_Ser190dup
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 12675
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17154
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 4.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 3499
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 8512
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 26232
  bin: 6.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 6
hgvs: p.Thr189_Ser190dup
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-33476432-A-AGGATGTGGCTTTGGAGAAGGCTGCTAGGGTGCTTGCGAACACGACATCAGGGGTCTGGGATGCATCAAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476432
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476501
    reference: chr 1
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: AGGATGTGGCTTTGGAGAAGGCTGCTAGGGTGCTTGCGAACACGACATCAGGGGTCTGGGATGCATCAAT
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8512
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-33476433-G-GGATGTGGCTTTGGAGAAGGCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476433
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476454
    reference: chr 1
allele count: 14
allele frequency: 1.155268022181146e-4
allele num: 121184
alternate allele: GGATGTGGCTTTGGAGAAGGCT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsp: ENSP00000362548.2:p.Ala226_Ser232dup
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsp: ENSP00000449003.1:p.Ala184_Ser190dup
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
canonical: false
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17142
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8521
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.25e1
  variant carriers: 1
hgvs: p.Ala184_Ser190dup
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

1-33476433-G-GGATGTGGCTTTGGAGAAGGCTGCTAGGGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476433
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476462
    reference: chr 1
allele count: 25
allele frequency: 2.062978611037761e-4
allele num: 121184
alternate allele: GGATGTGGCTTTGGAGAAGGCTGCTAGGGT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsp: ENSP00000449003.1:p.Ter191ProfsTer2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsp: ENSP00000362548.2:p.Ter233ProfsTer2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: stop gained
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17142
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12671
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8521
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3527
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26293
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Ter191ProfsTer2
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-33476433-G-GGATGTGGCTTTGGAGAAGGCTGCTAGGGTGCTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476433
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476466
    reference: chr 1
allele count: 13
allele frequency: 1.072748877739636e-4
allele num: 121184
alternate allele: GGATGTGGCTTTGGAGAAGGCTGCTAGGGTGCTT
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12671
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17142
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8521
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-33476434-G-GATGTGGCTTTGGAGAAGGCTGCTAGGGTGCTTGCGAACACGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476434
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476476
    reference: chr 1
allele count: 41
allele frequency: 3.383675827350004e-4
allele num: 121170
alternate allele: GATGTGGCTTTGGAGAAGGCTGCTAGGGTGCTTGCGAACACGA
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17152
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12657
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11951
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 26330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8516
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

1-33476434-G-GATGTGGCTTTGGAGAAGGCTGCTAGGGTGCTTGCGAACACGACAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476434
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476479
    reference: chr 1
allele count: 37
allele frequency: 3.053561112486589e-4
allele num: 121170
alternate allele: GATGTGGCTTTGGAGAAGGCTGCTAGGGTGCTTGCGAACACGACAT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12657
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11951
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 26330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8516
  bin: 6.75e1
  variant carriers: 4
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

1-33476434-G-GATGTGGCTTTGGAGAAGGCTGCTAGGGTGCTTGCGAACACGACATCAGGGGTCTGGGATGCATCAATGGCAGAGTGGAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476434
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476513
    reference: chr 1
allele count: 13
allele frequency: 1.072872823306099e-4
allele num: 121170
alternate allele: GATGTGGCTTTGGAGAAGGCTGCTAGGGTGCTTGCGAACACGACATCAGGGGTCTGGGATGCATCAATGGCAGAGTGGAT
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsp: ENSP00000449003.1:p.Ser190TyrfsTer6
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsp: ENSP00000362548.2:p.Ser232TyrfsTer6
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: stop gained
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11951
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser232TyrfsTer6
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-33476434-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476434
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476434
    reference: chr 1
allele count: 2
allele frequency: 1.650573574317075e-5
allele num: 121170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.695C>T
  hgvsp: ENSP00000362548.2:p.Ser232Phe
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20202G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.285C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.394C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.569C>T
  hgvsp: ENSP00000449003.1:p.Ser190Phe
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*45C>T
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12657
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser232Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

1-33476434-G-GATGTGGCTTTGGAGAAGGCTGCTAGGGTGCTTGCGAACA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476434
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476473
    reference: chr 1
allele count: 49
allele frequency: 4.043905257076834e-4
allele num: 121170
alternate allele: GATGTGGCTTTGGAGAAGGCTGCTAGGGTGCTTGCGAACA
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17152
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12657
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8516
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 26330
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 5
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

1-33476434-G-GATGTGGCTTTGGAGAAGGCTGCTAGGGTGCTTGCGAACACGACATCAGGGGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476434
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476486
    reference: chr 1
allele count: 6
allele frequency: 4.951720722951226e-5
allele num: 121170
alternate allele: GATGTGGCTTTGGAGAAGGCTGCTAGGGTGCTTGCGAACACGACATCAGGGGT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsp: ENSP00000449003.1:p.Ser190TyrfsTer3
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsp: ENSP00000362548.2:p.Ser232TyrfsTer3
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: stop gained
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11951
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Ser190TyrfsTer3
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

1-33476435-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476435
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476437
    reference: chr 1
allele count: 3
allele frequency: 2.620682425703653e-5
allele num: 114474
alternate allele: CTT
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*45-2_*45-1insAA
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20200_246-20199insTT
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.695-2_695-1insAA
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.394-2_394-1insAA
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.285-2_285-1insAA
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.569-2_569-1insAA
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: splice acceptor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17052
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12628
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 7.75e1
  variant carriers: 0
hgvs: c.569-2_569-1insAA
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-33476435-C-CTTTGGAGAAGGCTGCTAGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476435
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476455
    reference: chr 1
allele count: 14
allele frequency: 1.222985131995038e-4
allele num: 114474
alternate allele: CTTTGGAGAAGGCTGCTAGGG
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: splice acceptor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17052
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12628
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7478
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.75e1
  variant carriers: 2
hgvs: c.569-2_569-1insCCCTAGCAGCCTTCTCCAAA
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

1-33476435-C-CTTTGGAGAAGGCTGCTAGGGTGCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476435
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476459
    reference: chr 1
allele count: 25
allele frequency: 2.183902021419711e-4
allele num: 114474
alternate allele: CTTTGGAGAAGGCTGCTAGGGTGCT
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: splice acceptor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17052
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12628
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25643
  bin: 6.25e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

1-33476436-T-TTTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476436
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476439
    reference: chr 1
allele count: 19
allele frequency: 1.569365976145637e-4
allele num: 121068
alternate allele: TTTG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.285-3_285-2insCAA
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.695-3_695-2insCAA
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*45-3_*45-2insCAA
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20200_246-20199insTTG
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.569-3_569-2insCAA
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.394-3_394-2insCAA
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17434
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12808
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8594
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 1
hgvs: c.569-3_569-2insCAA
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

1-33476436-T-TTTGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476436
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476441
    reference: chr 1
allele count: 55
allele frequency: 4.542901509895265e-4
allele num: 121068
alternate allele: TTTGGA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.569-3_569-2insTCCAA
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.285-3_285-2insTCCAA
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.695-3_695-2insTCCAA
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*45-3_*45-2insTCCAA
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.394-3_394-2insTCCAA
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17434
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11302
  bin: 9.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 2
hgvs: c.569-3_569-2insTCCAA
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

1-33476436-T-TTTGGAGAAGGCTGCTAGGGTGCTTGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476436
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476462
    reference: chr 1
allele count: 23
allele frequency: 1.899758813228929e-4
allele num: 121068
alternate allele: TTTGGAGAAGGCTGCTAGGGTGCTTGC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ

1-33476436-T-TTTGGAGAAGGCTGCTAGGGTGCTTGCGAACAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476436
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476468
    reference: chr 1
allele count: 21
allele frequency: 1.734562394687283e-4
allele num: 121068
alternate allele: TTTGGAGAAGGCTGCTAGGGTGCTTGCGAACAC
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 17434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12808
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11302
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

1-33476436-T-TTTGGAGAAGGCTGCTAGGGTGCTTGCGAACACGACATCAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476436
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476476
    reference: chr 1
allele count: 1
allele frequency: 8.259820927082301e-6
allele num: 121068
alternate allele: TTTGGAGAAGGCTGCTAGGGTGCTTGCGAACACGACATCAG
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11302
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

1-33476436-T-TTTGGAGAAGGCTGCTAGGGTGCTTGCGAACACGACATCAGGGGTCTGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476436
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476484
    reference: chr 1
allele count: 1
allele frequency: 8.259820927082301e-6
allele num: 121068
alternate allele: TTTGGAGAAGGCTGCTAGGGTGCTTGCGAACACGACATCAGGGGTCTGG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26905
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-33476437-G-GCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476437
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476439
    reference: chr 1
allele count: 4
allele frequency: 3.30234631705827e-5
allele num: 121126
alternate allele: GCT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.285-4_285-3insAG
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.394-4_394-3insAG
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.569-4_569-3insAG
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.695-4_695-3insAG
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20199_246-20198insCT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*45-4_*45-3insAG
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17393
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11483
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3484
  bin: 7.75e1
  variant carriers: 0
hgvs: c.569-4_569-3insAG
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

1-33476437-G-GCTAGGGTGCTTGCGAAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476437
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476454
    reference: chr 1
allele count: 30
allele frequency: 2.476759737793702e-4
allele num: 121126
alternate allele: GCTAGGGTGCTTGCGAAC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 17393
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8559
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 2
hgvs: c.569-4_569-3insGTTCGCAAGCACCCTAG
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-33476437-G-GCTAGGGTGCTTGCGAACACGAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476437
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476459
    reference: chr 1
allele count: 43
allele frequency: 3.55002229083764e-4
allele num: 121126
alternate allele: GCTAGGGTGCTTGCGAACACGAC
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8559
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 1
hgvs: c.569-4_569-3insGTCGTGTTCGCAAGCACCCTAG
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

1-33476437-G-GCTAGGGTGCTTGCGAACACGACATC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476437
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476462
    reference: chr 1
allele count: 62
allele frequency: 5.118636791440318e-4
allele num: 121126
alternate allele: GCTAGGGTGCTTGCGAACACGACATC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 17393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11483
  bin: 9.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8559
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 2
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-33476437-G-GCTAGGGTGCTTGCGAACACGACATCAGGGGTCTGGGATGCATC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476437
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476480
    reference: chr 1
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: GCTAGGGTGCTTGCGAACACGACATCAGGGGTCTGGGATGCATC
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3484
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-33476438-A-AGAAGGCTGCTAGGGTGCTTGCGAACACGACATCAGGGGTCTGGGATGCATC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476438
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476489
    reference: chr 1
allele count: 3
allele frequency: 2.637316266966735e-5
allele num: 113752
alternate allele: AGAAGGCTGCTAGGGTGCTTGCGAACACGACATCAGGGGTCTGGGATGCATC
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25984
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

1-33476439-A-AGGCTGCTAGGGTGCTTGCGAACACGAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476439
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476466
    reference: chr 1
allele count: 44
allele frequency: 3.869084258103094e-4
allele num: 113722
alternate allele: AGGCTGCTAGGGTGCTTGCGAACACGAC
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12699
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7123
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 7664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

1-33476439-A-AGGCTGCTAGGGTGCTTGCGAACACGACATCAGGGGTCTGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476439
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476480
    reference: chr 1
allele count: 1
allele frequency: 8.793373313870666e-6
allele num: 113722
alternate allele: AGGCTGCTAGGGTGCTTGCGAACACGACATCAGGGGTCTGGG
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-33476441-TAGAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476441
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476437
    reference: chr 1
allele count: 2
allele frequency: 1.760935408889202e-5
allele num: 113576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*45-11_*45-8delCTCT
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.394-11_394-8delCTCT
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.695-11_695-8delCTCT
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20192_246-20189delAGAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.285-11_285-8delCTCT
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.569-11_569-8delCTCT
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12868
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18020
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25819
  bin: 6.25e1
  variant carriers: 0
hgvs: c.569-11_569-8delCTCT
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: TAGAG
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-33476442-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476442
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476442
    reference: chr 1
allele count: 1
allele frequency: 8.702159876081243e-6
allele num: 114914
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*45-8T>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.394-8T>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20194A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.285-8T>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.695-8T>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.569-8T>C
  variant of: http://identifiers.org/hgnc/362
canonical: false
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7137
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 3.25e1
  variant carriers: 0
hgvs: c.569-8T>C
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-33476445-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476445
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476445
    reference: chr 1
allele count: 3
allele frequency: 2.478314745972738e-5
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.394-11C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*45-11C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20191G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.569-11C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.285-11C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.695-11C>T
  variant of: http://identifiers.org/hgnc/362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/1-33476452-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476452
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476451
    reference: chr 1
allele count: 1
allele frequency: 8.571771442286263e-6
allele num: 116662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.569-19delT
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.394-19delT
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.695-19delT
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20182delA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.285-19delT
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*45-19delT
  variant of: http://identifiers.org/hgnc/362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: CA
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/1-33476452-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476452
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476450
    reference: chr 1
allele count: 5
allele frequency: 4.285885721143132e-5
allele num: 116662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.285-20_285-19delTT
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.695-20_695-19delTT
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.569-20_569-19delTT
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*45-20_*45-19delTT
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20183_246-20182delAA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.394-20_394-19delTT
  variant of: http://identifiers.org/hgnc/362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19339
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7093
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: CAA
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

1-33476469-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476469
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476469
    reference: chr 1
allele count: 1
allele frequency: 8.293524416135881e-6
allele num: 120576
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20167G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.285-35C>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.569-35C>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.394-35C>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*45-35C>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.695-35C>G
  variant of: http://identifiers.org/hgnc/362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7570
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-33476471-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476471
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476471
    reference: chr 1
allele count: 2
allele frequency: 1.682566924099406e-5
allele num: 118866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.569-37A>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.285-37A>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20165T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.695-37A>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.394-37A>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*45-37A>G
  variant of: http://identifiers.org/hgnc/362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16710
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23616
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-33476484-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476484
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476484
    reference: chr 1
allele count: 1
allele frequency: 8.405904307185366e-6
allele num: 118964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.285-50T>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.695-50T>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20152A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.394-50T>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*45-50T>C
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.569-50T>C
  variant of: http://identifiers.org/hgnc/362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5687
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5846
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2716
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7148
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-33476485-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476485
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476485
    reference: chr 1
allele count: 1
allele frequency: 8.37408722449253e-6
allele num: 119416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.569-51C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-20151G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*45-51C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.394-51C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.695-51C>T
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.285-51C>T
  variant of: http://identifiers.org/hgnc/362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7204
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2880
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3771
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5851
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4880
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-33476782-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476782
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476781
    reference: chr 1
allele count: 1
allele frequency: 7.923930269413629e-4
allele num: 1262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.695-349delG
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*45-349delG
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-19852delC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.569-349delG
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.285-349delG
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.393+266delG
  variant of: http://identifiers.org/hgnc/362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  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: 599
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  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 quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: AC
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD

1-33476783-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476783
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476783
    reference: chr 1
allele count: 1
allele frequency: 7.776049766718507e-4
allele num: 1286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.285-349G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.569-349G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.695-349G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*45-349G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.393+266G>A
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-19853C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4297
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-33476811-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33476811
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 33476811
    reference: chr 1
allele count: 96
allele frequency: 3.590127150336574e-2
allele num: 2674
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000236065
  ensembl transcript: ENST00000427524
  gene symbol: RP1-117O3.2
  hgvsc: ENST00000427524.1:n.246-19825T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000449003
  ensembl transcript: ENST00000548033
  gene symbol: AK2
  hgvsc: ENST00000548033.1:c.569-377A>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000482191
  gene symbol: AK2
  hgvsc: ENST00000482191.1:n.285-377A>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000362548
  ensembl transcript: ENST00000373449
  gene symbol: AK2
  hgvsc: ENST00000373449.2:c.695-377A>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl protein: ENSP00000447082
  ensembl transcript: ENST00000467905
  gene symbol: AK2
  hgvsc: ENST00000467905.1:c.*45-377A>G
  variant of: http://identifiers.org/hgnc/362
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004455
  ensembl transcript: ENST00000491241
  gene symbol: AK2
  hgvsc: ENST00000491241.1:n.393+238A>G
  variant of: http://identifiers.org/hgnc/362
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 1.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 7.5e0
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 2.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.25e1
  variant carriers: 6
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 467
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1857
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.286670097786928e-4
allele num: 15544
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.608175e6

QD
type: SiteQuality
SIO_000300: 7.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.306e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

MQ
type: SiteQuality
SIO_000300: 5.216e1

VQSLOD
type: SiteQuality
SIO_000300: -2.117e0

FS
type: SiteQuality
SIO_000300: 8.489000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.427e0

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7219
bin: 9.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.912777352716144e-4
allele num: 15684
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5760
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.021000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 3.7176e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.89e0

QD
type: SiteQuality
SIO_000300: 2.5e-1

DP
type: SiteQuality
SIO_000300: 1.647937e6

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQ
type: SiteQuality
SIO_000300: 5.69e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

GenotypeQuality
all individuals: 225
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 32267
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 326
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 9.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11194
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 9.950248756218905e-4
allele num: 16080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.613e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.699e0

FS
type: SiteQuality
SIO_000300: 2.0317e1

DP
type: SiteQuality
SIO_000300: 1.733518e6

MQRankSum
type: SiteQuality
SIO_000300: -2.214e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

GenotypeQuality
all individuals: 357
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32241
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3229
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7643
bin: 9.75e1
variant carriers: 319

GenotypeQuality
all individuals: 2211
bin: 8.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6122
num of homozygotes: 0

African
type: Population
allele count: 34
allele frequency: 3.365003958828187e-3
allele num: 10104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521977352976988e-5
allele num: 65704
num of homozygotes: 0

East Asian
type: Population
allele count: 266
allele frequency: 3.1002331002331e-2
allele num: 8580
num of homozygotes: 0

South Asian
type: Population
allele count: 24
allele frequency: 1.487173131738753e-3
allele num: 16138
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.554923569143263e-4
allele num: 11252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.748404e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2

FS
type: SiteQuality
SIO_000300: 4.359e0

QD
type: SiteQuality
SIO_000300: 9.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.734e-1

MQ
type: SiteQuality
SIO_000300: 5.496e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.621e0

GenotypeQuality
all individuals: 966
bin: 9.25e1
variant carriers: 893

GenotypeQuality
all individuals: 1758
bin: 5.75e1
variant carriers: 1108

GenotypeQuality
all individuals: 2054
bin: 1.75e1
variant carriers: 786

GenotypeQuality
all individuals: 1017
bin: 8.75e1
variant carriers: 932

GenotypeQuality
all individuals: 16369
bin: 9.75e1
variant carriers: 16170

South Asian
type: Population
allele count: 4865
allele frequency: 3.917700112739572e-1
allele num: 12418
num of homozygotes: 0

African
type: Population
allele count: 2885
allele frequency: 3.623461441848781e-1
allele num: 7962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17412
allele frequency: 3.576387462514891e-1
allele num: 48686
num of homozygotes: 0

Other
type: Population
allele count: 245
allele frequency: 3.624260355029586e-1
allele num: 676
num of homozygotes: 0

East Asian
type: Population
allele count: 2262
allele frequency: 3.538798498122653e-1
allele num: 6392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1735
allele frequency: 3.761925411968777e-1
allele num: 4612
num of homozygotes: 0

Latino
type: Population
allele count: 2629
allele frequency: 3.301104972375691e-1
allele num: 7964
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.82e-1

QD
type: SiteQuality
SIO_000300: 3.37e0

FS
type: SiteQuality
SIO_000300: 1.6918e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.781e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.289e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

DP
type: SiteQuality
SIO_000300: 2.607122e6

VQSLOD
type: SiteQuality
SIO_000300: 2.624e1

MQ
type: SiteQuality
SIO_000300: 5.628e1

GenotypeQuality
all individuals: 181
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29362
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 428
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4331
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2363
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2196
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.600104004160167e-4
allele num: 11538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.474e0

FS
type: SiteQuality
SIO_000300: 8.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 2.527219e6

QD
type: SiteQuality
SIO_000300: 1.131e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.009e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

GenotypeQuality
all individuals: 3489
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10547
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4390
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29385
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3456
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3213
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.561e1

MQRankSum
type: SiteQuality
SIO_000300: -1.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.967e-1

FS
type: SiteQuality
SIO_000300: 1.448e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.06e-1

DP
type: SiteQuality
SIO_000300: 2.532785e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.119e0

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

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: -1.606e0

MQ
type: SiteQuality
SIO_000300: 5.807e1

DP
type: SiteQuality
SIO_000300: 2.53463e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

GenotypeQuality
all individuals: 218
bin: 3.75e1
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
all individuals: 194
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GenotypeQuality
all individuals: 199
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

FS
type: SiteQuality
SIO_000300: 4.611e0

VQSLOD
type: SiteQuality
SIO_000300: -1.257e0

MQ
type: SiteQuality
SIO_000300: 5.699e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

GenotypeQuality
all individuals: 192
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3514
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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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variant carriers: 0

GenotypeQuality
all individuals: 2224
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GenotypeQuality
all individuals: 4416
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 6.18e0

VQSLOD
type: SiteQuality
SIO_000300: -2.902e0

DP
type: SiteQuality
SIO_000300: 2.536546e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.868e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.523e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

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
all individuals: 205
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variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000660145231951e-5
allele num: 66652
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.778999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.045e0

MQ
type: SiteQuality
SIO_000300: 5.764e1

MQRankSum
type: SiteQuality
SIO_000300: 5.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.537073e6

QD
type: SiteQuality
SIO_000300: 1.089e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

GenotypeQuality
all individuals: 3534
bin: 8.25e1
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
all individuals: 29422
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variant carriers: 3

GenotypeQuality
all individuals: 4414
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.4e-2

FS
type: SiteQuality
SIO_000300: 8.378e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.139e0

DP
type: SiteQuality
SIO_000300: 2.54116e6

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-1

MQ
type: SiteQuality
SIO_000300: 5.763e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.447e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

GenotypeQuality
all individuals: 10716
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
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bin: 9.75e1
variant carriers: 9

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 4418
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.454545454545455e-4
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

QD
type: SiteQuality
SIO_000300: 1.102e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.964e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

MQ
type: SiteQuality
SIO_000300: 5.753e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

DP
type: SiteQuality
SIO_000300: 2.542134e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 492

GenotypeQuality
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variant carriers: 573

GenotypeQuality
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bin: 2.25e1
variant carriers: 847

GenotypeQuality
all individuals: 2194
bin: 3.75e1
variant carriers: 946

GenotypeQuality
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bin: 6.75e1
variant carriers: 787

GenotypeQuality
all individuals: 1393
bin: 8.25e1
variant carriers: 678

GenotypeQuality
all individuals: 15749
bin: 9.75e1
variant carriers: 11050

Latino
type: Population
allele count: 1782
allele frequency: 2.010379061371841e-1
allele num: 8864
num of homozygotes: 0

African
type: Population
allele count: 2158
allele frequency: 2.523976608187135e-1
allele num: 8550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1334
allele frequency: 2.619795758051846e-1
allele num: 5092
num of homozygotes: 0

East Asian
type: Population
allele count: 1611
allele frequency: 2.364944216089254e-1
allele num: 6812
num of homozygotes: 0

South Asian
type: Population
allele count: 2122
allele frequency: 1.489122807017544e-1
allele num: 14250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12110
allele frequency: 2.255709123421376e-1
allele num: 53686
num of homozygotes: 0

Other
type: Population
allele count: 173
allele frequency: 2.294429708222812e-1
allele num: 754
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.586e-1

MQ
type: SiteQuality
SIO_000300: 5.684e1

MQRankSum
type: SiteQuality
SIO_000300: -3.615e0

FS
type: SiteQuality
SIO_000300: 1.539e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.26e0

QD
type: SiteQuality
SIO_000300: 3.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.57e-1

DP
type: SiteQuality
SIO_000300: 3.259761e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2128
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variant carriers: 0

GenotypeQuality
all individuals: 1575
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variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8864
num of homozygotes: 0

East Asian
type: Population
allele count: 12
allele frequency: 1.76159718144451e-3
allele num: 6812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5092
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.017543859649122e-5
allele num: 14250
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.169590643274854e-4
allele num: 8550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53686
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.615e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

QD
type: SiteQuality
SIO_000300: 3.04e0

FS
type: SiteQuality
SIO_000300: 1.539e1

VQSLOD
type: SiteQuality
SIO_000300: 9.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e-1

MQ
type: SiteQuality
SIO_000300: 5.684e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.57e-1

DP
type: SiteQuality
SIO_000300: 3.259761e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.586e-1

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
all individuals: 7853
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1782
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

QD
type: SiteQuality
SIO_000300: 3.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: -2.441e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

FS
type: SiteQuality
SIO_000300: 9.884e0

VQSLOD
type: SiteQuality
SIO_000300: -2.963e0

DP
type: SiteQuality
SIO_000300: 3.226245e6

MQ
type: SiteQuality
SIO_000300: 5.641e1

GenotypeQuality
all individuals: 1989
bin: 5.75e1
variant carriers: 680

GenotypeQuality
all individuals: 2043
bin: 5.25e1
variant carriers: 868

GenotypeQuality
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bin: 9.25e1
variant carriers: 493

GenotypeQuality
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bin: 9.75e1
variant carriers: 11051

GenotypeQuality
all individuals: 3075
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variant carriers: 781

GenotypeQuality
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bin: 8.75e1
variant carriers: 534

GenotypeQuality
all individuals: 2001
bin: 4.25e1
variant carriers: 688

East Asian
type: Population
allele count: 1612
allele frequency: 2.257703081232493e-1
allele num: 7140
num of homozygotes: 0

South Asian
type: Population
allele count: 2121
allele frequency: 1.454932089449856e-1
allele num: 14578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12112
allele frequency: 2.185571474972031e-1
allele num: 55418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1334
allele frequency: 2.494390426327599e-1
allele num: 5348
num of homozygotes: 0

Latino
type: Population
allele count: 1780
allele frequency: 1.921831137983157e-1
allele num: 9262
num of homozygotes: 0

Other
type: Population
allele count: 173
allele frequency: 2.223650385604113e-1
allele num: 778
num of homozygotes: 0

African
type: Population
allele count: 2159
allele frequency: 2.457318461188254e-1
allele num: 8786
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.695e1

MQRankSum
type: SiteQuality
SIO_000300: -3.592e0

FS
type: SiteQuality
SIO_000300: 1.5599e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

DP
type: SiteQuality
SIO_000300: 3.260481e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.831e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.01e-1

QD
type: SiteQuality
SIO_000300: 3.0e0

GenotypeQuality
all individuals: 4220
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
all individuals: 34469
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variant carriers: 4

GenotypeQuality
all individuals: 1997
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1919
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2364
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

DP
type: SiteQuality
SIO_000300: 3.028354e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.45e-1

FS
type: SiteQuality
SIO_000300: 1.889e0

VQSLOD
type: SiteQuality
SIO_000300: -1.055e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQ
type: SiteQuality
SIO_000300: 5.703e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

QD
type: SiteQuality
SIO_000300: 1.101e1

GenotypeQuality
all individuals: 2030
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

FS
type: SiteQuality
SIO_000300: 1.6284e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

DP
type: SiteQuality
SIO_000300: 3.014946e6

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

MQ
type: SiteQuality
SIO_000300: 5.697e1

VQSLOD
type: SiteQuality
SIO_000300: -1.532e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.115e0

QD
type: SiteQuality
SIO_000300: 1.14e1

GenotypeQuality
all individuals: 11549
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1920
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1340
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4185
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 6590
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730103806228374e-4
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.308e0

QD
type: SiteQuality
SIO_000300: 1.057e1

MQ
type: SiteQuality
SIO_000300: 5.927e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

VQSLOD
type: SiteQuality
SIO_000300: 6.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

DP
type: SiteQuality
SIO_000300: 3.029564e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

GenotypeQuality
all individuals: 2069
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34499
bin: 9.75e1
variant carriers: 51

GenotypeQuality
all individuals: 4227
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11662
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.544077552256892e-4
allele num: 6602
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 48
allele frequency: 7.193382088478599e-4
allele num: 66728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.509e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.71e-1

QD
type: SiteQuality
SIO_000300: 1.112e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

FS
type: SiteQuality
SIO_000300: 1.125e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 3.030487e6

MQ
type: SiteQuality
SIO_000300: 5.779e1

GenotypeQuality
all individuals: 11404
bin: 6.25e1
variant carriers: 471

GenotypeQuality
all individuals: 1651
bin: 2.75e1
variant carriers: 438

GenotypeQuality
all individuals: 15603
bin: 9.75e1
variant carriers: 10744

GenotypeQuality
all individuals: 1814
bin: 4.25e1
variant carriers: 517

GenotypeQuality
all individuals: 1797
bin: 5.75e1
variant carriers: 563

GenotypeQuality
all individuals: 1089
bin: 9.25e1
variant carriers: 438

GenotypeQuality
all individuals: 1789
bin: 4.75e1
variant carriers: 459

South Asian
type: Population
allele count: 1800
allele frequency: 1.196967681872589e-1
allele num: 15038
num of homozygotes: 0

Other
type: Population
allele count: 148
allele frequency: 1.887755102040816e-1
allele num: 784
num of homozygotes: 0

Latino
type: Population
allele count: 1600
allele frequency: 1.644398766700925e-1
allele num: 9730
num of homozygotes: 0

African
type: Population
allele count: 1896
allele frequency: 2.050616482803374e-1
allele num: 9246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1200
allele frequency: 2.15594681997844e-1
allele num: 5566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10643
allele frequency: 1.827249939910037e-1
allele num: 58246
num of homozygotes: 0

East Asian
type: Population
allele count: 1424
allele frequency: 1.873191265456459e-1
allele num: 7602
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 3.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.294e-1

DP
type: SiteQuality
SIO_000300: 3.174968e6

FS
type: SiteQuality
SIO_000300: 1.5144e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.63e0

MQ
type: SiteQuality
SIO_000300: 5.706e1

GenotypeQuality
all individuals: 1192
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.808617041738796e-4
allele num: 10398
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.579e0

MQ
type: SiteQuality
SIO_000300: 5.779e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.32e0

FS
type: SiteQuality
SIO_000300: 9.320000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 3.061793e6

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13190
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 33520
bin: 9.75e1
variant carriers: 856

GenotypeQuality
all individuals: 1908
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 755
allele frequency: 1.131662569698423e-2
allele num: 66716
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 30
allele frequency: 4.541326067211626e-3
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 1.634929794191191e-3
allele num: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 51
allele frequency: 4.409476050492824e-3
allele num: 11566
num of homozygotes: 0

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

Other
type: Population
allele count: 6
allele frequency: 6.607929515418502e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.058e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.372e0

FS
type: SiteQuality
SIO_000300: 1.757e0

MQ
type: SiteQuality
SIO_000300: 5.822e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.933999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 3.068558e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

GenotypeQuality
all individuals: 1102
bin: 9.25e1
variant carriers: 429

GenotypeQuality
all individuals: 1513
bin: 3.25e1
variant carriers: 456

GenotypeQuality
all individuals: 1493
bin: 2.75e1
variant carriers: 444

GenotypeQuality
all individuals: 1882
bin: 5.25e1
variant carriers: 690

GenotypeQuality
all individuals: 1537
bin: 2.25e1
variant carriers: 497

GenotypeQuality
all individuals: 1935
bin: 7.75e1
variant carriers: 465

GenotypeQuality
all individuals: 2119
bin: 7.25e1
variant carriers: 532

European (Finnish)
type: Population
allele count: 1187
allele frequency: 2.073000349283968e-1
allele num: 5726
num of homozygotes: 0

African
type: Population
allele count: 1879
allele frequency: 2.002771264122788e-1
allele num: 9382
num of homozygotes: 0

Latino
type: Population
allele count: 1589
allele frequency: 1.605699272433306e-1
allele num: 9896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10583
allele frequency: 1.779492870594566e-1
allele num: 59472
num of homozygotes: 0

East Asian
type: Population
allele count: 1418
allele frequency: 1.851658396448159e-1
allele num: 7658
num of homozygotes: 0

Other
type: Population
allele count: 145
allele frequency: 1.8125e-1
allele num: 800
num of homozygotes: 0

South Asian
type: Population
allele count: 1789
allele frequency: 1.1677545691906e-1
allele num: 15320
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.136e0

VQSLOD
type: SiteQuality
SIO_000300: 5.58e0

MQRankSum
type: SiteQuality
SIO_000300: -3.322e0

FS
type: SiteQuality
SIO_000300: 1.3889e1

DP
type: SiteQuality
SIO_000300: 3.144881e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.239e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

MQ
type: SiteQuality
SIO_000300: 5.742e1

QD
type: SiteQuality
SIO_000300: 3.24e0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1796
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1411
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26529
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8564
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.924187030979411e-4
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
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: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.0687e1

VQSLOD
type: SiteQuality
SIO_000300: -7.047e0

DP
type: SiteQuality
SIO_000300: 2.40926e6

MQRankSum
type: SiteQuality
SIO_000300: -3.319e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.335e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

MQ
type: SiteQuality
SIO_000300: 5.588e1

GenotypeQuality
all individuals: 145
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3378
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1791
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12279
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 3568
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998320940273447e-5
allele num: 66704
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

South Asian
type: Population
allele count: 28
allele frequency: 1.696969696969697e-3
allele num: 16500
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

QD
type: SiteQuality
SIO_000300: 2.582e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

FS
type: SiteQuality
SIO_000300: 3.228e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

MQ
type: SiteQuality
SIO_000300: 5.833e1

DP
type: SiteQuality
SIO_000300: 2.409018e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.01e-1

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1788
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12255
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1404
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26630
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3374
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.497211728728189e-5
allele num: 66708
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

African
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: 16500
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.99e0

VQSLOD
type: SiteQuality
SIO_000300: -1.105e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.86e-1

DP
type: SiteQuality
SIO_000300: 2.407847e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.813e1

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26636
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1785
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3561
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 4.815e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

VQSLOD
type: SiteQuality
SIO_000300: -1.698e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

DP
type: SiteQuality
SIO_000300: 2.40723e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.43e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

MQ
type: SiteQuality
SIO_000300: 5.76e1

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3363
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2590
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8568
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3553
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.923446816695518e-4
allele num: 10398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.227e-1

QD
type: SiteQuality
SIO_000300: 1.979e1

MQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

DP
type: SiteQuality
SIO_000300: 2.406929e6

MQ
type: SiteQuality
SIO_000300: 5.868e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1780
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12234
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.124e0

QD
type: SiteQuality
SIO_000300: 1.314e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.811e1

FS
type: SiteQuality
SIO_000300: 1.286e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 2.403892e6

GenotypeQuality
all individuals: 125
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1391
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8529
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2573
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.271676300578035e-3
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.403249e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.008e0

MQRankSum
type: SiteQuality
SIO_000300: 9.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.44e-1

MQ
type: SiteQuality
SIO_000300: 5.904e1

VQSLOD
type: SiteQuality
SIO_000300: 3.14e-1

QD
type: SiteQuality
SIO_000300: 1.19e1

GenotypeQuality
all individuals: 1770
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2572
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1399
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3357
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 8

GenotypeQuality
all individuals: 133
bin: 3.75e1
variant carriers: 8

Latino
type: Population
allele count: 13
allele frequency: 1.126321261479813e-3
allele num: 11542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.061893203883495e-3
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 24
allele frequency: 2.315261431603319e-3
allele num: 10366
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.158748551564311e-3
allele num: 8630
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.311258278145695e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 133
allele frequency: 1.998437312176944e-3
allele num: 66552
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.283321194464676e-4
allele num: 16476
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.06e-1

DP
type: SiteQuality
SIO_000300: 2.399923e6

VQSLOD
type: SiteQuality
SIO_000300: -4.384e0

MQRankSum
type: SiteQuality
SIO_000300: -3.336e0

MQ
type: SiteQuality
SIO_000300: 5.739e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

FS
type: SiteQuality
SIO_000300: 4.4892e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

GenotypeQuality
all individuals: 1785
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 140
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1404
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 179
bin: 5.25e1
variant carriers: 6

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 8

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 7

GenotypeQuality
all individuals: 11793
bin: 9.75e1
variant carriers: 56

GenotypeQuality
all individuals: 416
bin: 2.25e1
variant carriers: 5

GenotypeQuality
all individuals: 3362
bin: 7.25e1
variant carriers: 3

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 92
allele frequency: 1.382419233658903e-3
allele num: 66550
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 1.54320987654321e-3
allele num: 10368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.557885141294439e-4
allele num: 6582
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.804370447450572e-4
allele num: 11532
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.785697755149271e-4
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 9.111894059045073e-4
allele num: 16462
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.415e0

MQRankSum
type: SiteQuality
SIO_000300: -2.852e0

FS
type: SiteQuality
SIO_000300: 3.9011e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

DP
type: SiteQuality
SIO_000300: 2.399916e6

MQ
type: SiteQuality
SIO_000300: 5.782e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11793
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3362
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26232
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2584
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66550
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.399916e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.852e0

QD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.415e0

MQ
type: SiteQuality
SIO_000300: 5.782e1

FS
type: SiteQuality
SIO_000300: 3.9011e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.42e-1

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11992
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3527
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1796
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3355
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.00468243486613e-5
allele num: 66632
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.925669170036588e-4
allele num: 10386
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213739531496541e-4
allele num: 16478
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.033980582524272e-4
allele num: 6592
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.727e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 2.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

DP
type: SiteQuality
SIO_000300: 2.400865e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.906e0

MQRankSum
type: SiteQuality
SIO_000300: -3.332e0

FS
type: SiteQuality
SIO_000300: 3.2805e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

GenotypeQuality
all individuals: 115
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 398
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 116
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11992
bin: 9.75e1
variant carriers: 12

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

GenotypeQuality
all individuals: 3355
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.851338340073175e-4
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.851482771040941e-4
allele num: 66632
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.727e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 2.6e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.332e0

DP
type: SiteQuality
SIO_000300: 2.400865e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

FS
type: SiteQuality
SIO_000300: 3.2805e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.906e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.51e-1

GenotypeQuality
all individuals: 11992
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 116
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3527
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2593
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.500780405811022e-4
allele num: 66632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
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: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.888503755054881e-4
allele num: 10386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.332e0

VQSLOD
type: SiteQuality
SIO_000300: -3.906e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.2805e1

MQ
type: SiteQuality
SIO_000300: 5.727e1

DP
type: SiteQuality
SIO_000300: 2.400865e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.51e-1

QD
type: SiteQuality
SIO_000300: 2.6e-1

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 163
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1789
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3524
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.602846248536344e-4
allele num: 66614
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 8.665511265164644e-4
allele num: 10386
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: 4
allele frequency: 2.427773731488225e-4
allele num: 16476
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.597402597402597e-4
allele num: 11550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.644e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 2.0e-1

DP
type: SiteQuality
SIO_000300: 2.401125e6

VQSLOD
type: SiteQuality
SIO_000300: -4.989e0

FS
type: SiteQuality
SIO_000300: 4.4111e1

MQRankSum
type: SiteQuality
SIO_000300: -5.116e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 3524
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2587
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 7.702676680146351e-4
allele num: 10386
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.752964842225358e-4
allele num: 66614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.427773731488225e-4
allele num: 16476
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.116e0

DP
type: SiteQuality
SIO_000300: 2.401125e6

VQSLOD
type: SiteQuality
SIO_000300: -4.989e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.644e1

FS
type: SiteQuality
SIO_000300: 4.4111e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 2.0e-1

GenotypeQuality
all individuals: 2587
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3524
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8516
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26330
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213886865744113e-4
allele num: 16476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.501185936890143e-4
allele num: 66614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.644e1

MQRankSum
type: SiteQuality
SIO_000300: -5.116e0

VQSLOD
type: SiteQuality
SIO_000300: -4.989e0

FS
type: SiteQuality
SIO_000300: 4.4111e1

DP
type: SiteQuality
SIO_000300: 2.401125e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 2.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11951
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8516
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3524
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.925669170036588e-4
allele num: 10386
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.28e-1

FS
type: SiteQuality
SIO_000300: 4.4111e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: -4.989e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

MQ
type: SiteQuality
SIO_000300: 5.644e1

QD
type: SiteQuality
SIO_000300: 2.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.116e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 2.401125e6

GenotypeQuality
all individuals: 3358
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 123
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 11951
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 126
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3524
bin: 7.75e1
variant carriers: 3

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.427773731488225e-4
allele num: 16476
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.731601731601732e-4
allele num: 11550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.777007510109763e-4
allele num: 10386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 36
allele frequency: 5.404269372804516e-4
allele num: 66614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 2.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.989e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

FS
type: SiteQuality
SIO_000300: 4.4111e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.644e1

DP
type: SiteQuality
SIO_000300: 2.401125e6

MQRankSum
type: SiteQuality
SIO_000300: -5.116e0

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

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8516
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3524
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.505929684450716e-5
allele num: 66614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.644e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -5.116e0

VQSLOD
type: SiteQuality
SIO_000300: -4.989e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 2.401125e6

FS
type: SiteQuality
SIO_000300: 4.4111e1

QD
type: SiteQuality
SIO_000300: 2.0e-1

GenotypeQuality
all individuals: 657
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1045
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7866
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7478
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25643
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10958
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.773573497119944e-5
allele num: 62846
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.04e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

VQSLOD
type: SiteQuality
SIO_000300: -3.912e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.344e0

MQRankSum
type: SiteQuality
SIO_000300: -2.348e0

FS
type: SiteQuality
SIO_000300: 3.9022e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

QD
type: SiteQuality
SIO_000300: 3.6e-1

DP
type: SiteQuality
SIO_000300: 2.406474e6

GenotypeQuality
all individuals: 657
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2892
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 607
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2958
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.591191165706648e-4
allele num: 62846
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.047339757017176e-4
allele num: 9548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.125752874612155e-5
allele num: 10958
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.263423878711308e-4
allele num: 15830
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.912e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

MQRankSum
type: SiteQuality
SIO_000300: -2.348e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.04e-1

QD
type: SiteQuality
SIO_000300: 3.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.344e0

FS
type: SiteQuality
SIO_000300: 3.9022e1

DP
type: SiteQuality
SIO_000300: 2.406474e6

GenotypeQuality
all individuals: 7478
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1045
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7866
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 657
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1988
bin: 8.25e1
variant carriers: 1

Latino
type: Population
allele count: 2
allele frequency: 1.825150574922431e-4
allele num: 10958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.432072049135983e-4
allele num: 62846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.236698785085882e-4
allele num: 9548
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.053695514845231e-4
allele num: 15830
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.199040767386091e-3
allele num: 834
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.9022e1

DP
type: SiteQuality
SIO_000300: 2.406474e6

VQSLOD
type: SiteQuality
SIO_000300: -3.912e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

MQRankSum
type: SiteQuality
SIO_000300: -2.348e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.344e0

QD
type: SiteQuality
SIO_000300: 3.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 11302
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26905
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.25e1
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GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2577
bin: 8.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.04228780042592e-4
allele num: 6574
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.646922631680494e-5
allele num: 10366
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: 2
allele frequency: 1.214624073849144e-4
allele num: 16466
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.314279102059708e-4
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.35179789119529e-4
allele num: 66578
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.601005722212589e-4
allele num: 11534
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.062e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

MQ
type: SiteQuality
SIO_000300: 5.809e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.114e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

FS
type: SiteQuality
SIO_000300: 3.9083e1

DP
type: SiteQuality
SIO_000300: 2.386275e6

MQRankSum
type: SiteQuality
SIO_000300: -2.798e0

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 113
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2577
bin: 8.25e1
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GenotypeQuality
all individuals: 8594
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GenotypeQuality
all individuals: 1739
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GenotypeQuality
all individuals: 26905
bin: 6.25e1
variant carriers: 7

GenotypeQuality
all individuals: 95
bin: 5.75e1
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GenotypeQuality
all individuals: 3348
bin: 7.25e1
variant carriers: 1

Latino
type: Population
allele count: 4
allele frequency: 3.468007629616785e-4
allele num: 11534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.429248147698287e-4
allele num: 16466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 5.857790861846255e-4
allele num: 66578
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.752845842176346e-4
allele num: 10366
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

MQ
type: SiteQuality
SIO_000300: 5.809e1

QD
type: SiteQuality
SIO_000300: 6.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.114e0

FS
type: SiteQuality
SIO_000300: 3.9083e1

MQRankSum
type: SiteQuality
SIO_000300: -2.798e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.062e0

DP
type: SiteQuality
SIO_000300: 2.386275e6

GenotypeQuality
all individuals: 26905
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 11302
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1347
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2577
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.553396016702214e-4
allele num: 66578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.858769052672198e-4
allele num: 10366
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: 6574
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.314279102059708e-4
allele num: 8642
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.798e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

FS
type: SiteQuality
SIO_000300: 3.9083e1

QD
type: SiteQuality
SIO_000300: 6.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.114e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 2.386275e6

VQSLOD
type: SiteQuality
SIO_000300: -4.062e0

MQ
type: SiteQuality
SIO_000300: 5.809e1

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1739
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 26905
bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1347
bin: 8.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.823461315840247e-4
allele num: 10366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.252996485325483e-4
allele num: 66578
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.062e0

DP
type: SiteQuality
SIO_000300: 2.386275e6

FS
type: SiteQuality
SIO_000300: 3.9083e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.114e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

QD
type: SiteQuality
SIO_000300: 6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

MQ
type: SiteQuality
SIO_000300: 5.809e1

MQRankSum
type: SiteQuality
SIO_000300: -2.798e0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3348
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2577
bin: 8.25e1
variant carriers: 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: 6574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.062e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

FS
type: SiteQuality
SIO_000300: 3.9083e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 2.386275e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.114e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.798e0

MQ
type: SiteQuality
SIO_000300: 5.809e1

QD
type: SiteQuality
SIO_000300: 6.0e-1

GenotypeQuality
all individuals: 11302
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1347
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1739
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2577
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.062e0

MQRankSum
type: SiteQuality
SIO_000300: -2.798e0

QD
type: SiteQuality
SIO_000300: 6.0e-1

FS
type: SiteQuality
SIO_000300: 3.9083e1

MQ
type: SiteQuality
SIO_000300: 5.809e1

DP
type: SiteQuality
SIO_000300: 2.386275e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.114e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 2

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

GenotypeQuality
all individuals: 8559
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
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variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26796
bin: 6.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.504098729844158e-5
allele num: 66606
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 2.385628e6

FS
type: SiteQuality
SIO_000300: 4.2131e1

QD
type: SiteQuality
SIO_000300: 3.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-1

MQ
type: SiteQuality
SIO_000300: 5.763e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.361e0

MQRankSum
type: SiteQuality
SIO_000300: -3.348e0

GenotypeQuality
all individuals: 26796
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3484
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 126
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3322
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11483
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 1325
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213592233009709e-4
allele num: 16480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.860258637328701e-4
allele num: 10362
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.152869110890911e-4
allele num: 66606
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.316423442205235e-4
allele num: 8634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.361e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.348e0

DP
type: SiteQuality
SIO_000300: 2.385628e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-1

FS
type: SiteQuality
SIO_000300: 4.2131e1

MQ
type: SiteQuality
SIO_000300: 5.763e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.19e-1

QD
type: SiteQuality
SIO_000300: 3.5e-1

GenotypeQuality
all individuals: 3322
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3484
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 182
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11483
bin: 9.75e1
variant carriers: 32

GenotypeQuality
all individuals: 26796
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 156
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.825323296660876e-4
allele num: 10362
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.820388349514563e-4
allele num: 16480
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 4.35396210551602e-4
allele num: 66606
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.462603878116343e-4
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.763e1

DP
type: SiteQuality
SIO_000300: 2.385628e6

QD
type: SiteQuality
SIO_000300: 3.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.361e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 4.2131e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.348e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-1

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3322
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3484
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 156
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 182
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 8.75e1
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GenotypeQuality
all individuals: 499
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.825323296660876e-4
allele num: 10362
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.033980582524272e-4
allele num: 16480
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.63284688441047e-4
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.731301939058172e-4
allele num: 11552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 45
allele frequency: 6.756148094766237e-4
allele num: 66606
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.348e0

VQSLOD
type: SiteQuality
SIO_000300: -4.361e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 2.385628e6

FS
type: SiteQuality
SIO_000300: 4.2131e1

MQ
type: SiteQuality
SIO_000300: 5.763e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.19e-1

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8559
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3322
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.348e0

FS
type: SiteQuality
SIO_000300: 4.2131e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.361e0

QD
type: SiteQuality
SIO_000300: 3.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.19e-1

MQ
type: SiteQuality
SIO_000300: 5.763e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-1

DP
type: SiteQuality
SIO_000300: 2.385628e6

GenotypeQuality
all individuals: 313
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7109
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 708
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.322711178553364e-5
allele num: 15816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.207595586348473e-5
allele num: 62352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.366987e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.698e0

FS
type: SiteQuality
SIO_000300: 3.7829e1

QD
type: SiteQuality
SIO_000300: 1.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.836e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

MQRankSum
type: SiteQuality
SIO_000300: -6.062e0

MQ
type: SiteQuality
SIO_000300: 5.649e1

GenotypeQuality
all individuals: 2606
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variant carriers: 1

GenotypeQuality
all individuals: 2821
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 837
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variant carriers: 0

GenotypeQuality
all individuals: 1940
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GenotypeQuality
all individuals: 901
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variant carriers: 1

GenotypeQuality
all individuals: 825
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variant carriers: 2

GenotypeQuality
all individuals: 25795
bin: 6.25e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 4.644756230379909e-4
allele num: 62436
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 7.374631268436578e-4
allele num: 9492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.529084471421346e-4
allele num: 15816
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.696857670979667e-4
allele num: 10820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.8499e1

DP
type: SiteQuality
SIO_000300: 2.357395e6

VQSLOD
type: SiteQuality
SIO_000300: -4.241e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.332e0

QD
type: SiteQuality
SIO_000300: 3.6e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.03e0

MQ
type: SiteQuality
SIO_000300: 5.66e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

GenotypeQuality
all individuals: 438
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 3.25e1
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GenotypeQuality
all individuals: 1138
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25795
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variant carriers: 0

GenotypeQuality
all individuals: 7123
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.601640079441348e-5
allele num: 62436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

FS
type: SiteQuality
SIO_000300: 3.8499e1

DP
type: SiteQuality
SIO_000300: 2.357395e6

VQSLOD
type: SiteQuality
SIO_000300: -4.241e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

MQRankSum
type: SiteQuality
SIO_000300: -5.03e0

MQ
type: SiteQuality
SIO_000300: 5.66e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.332e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.25e-1

GenotypeQuality
all individuals: 772
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7588
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variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7139
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variant carriers: 2

GenotypeQuality
all individuals: 1227
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.269196598553116e-4
allele num: 15758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6136
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.969e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

MQ
type: SiteQuality
SIO_000300: 5.564e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

DP
type: SiteQuality
SIO_000300: 2.343048e6

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.307e0

QD
type: SiteQuality
SIO_000300: 8.99e0

GenotypeQuality
all individuals: 483
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 26622
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 1004
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variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1929
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63062
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.043187982474442e-4
allele num: 9586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8284
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.115e0

VQSLOD
type: SiteQuality
SIO_000300: -8.595000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

DP
type: SiteQuality
SIO_000300: 2.326241e6

FS
type: SiteQuality
SIO_000300: 3.4349e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.644e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
all individuals: 1251
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 849
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variant carriers: 0

GenotypeQuality
all individuals: 9840
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3232
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27942
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 9.877000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

DP
type: SiteQuality
SIO_000300: 2.295125e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

QD
type: SiteQuality
SIO_000300: 1.068e1

GenotypeQuality
all individuals: 677
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7093
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 640
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variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.218905472636816e-5
allele num: 16080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

FS
type: SiteQuality
SIO_000300: 1.296e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.185e0

DP
type: SiteQuality
SIO_000300: 2.222022e6

MQ
type: SiteQuality
SIO_000300: 6.025e1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

QD
type: SiteQuality
SIO_000300: 1.508e1

GenotypeQuality
all individuals: 1546
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2764
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
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variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16080
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.697841726618705e-4
allele num: 11120
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.121585765568909e-5
allele num: 64070
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

MQ
type: SiteQuality
SIO_000300: 6.025e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.185e0

DP
type: SiteQuality
SIO_000300: 2.222022e6

FS
type: SiteQuality
SIO_000300: 1.296e0

QD
type: SiteQuality
SIO_000300: 1.508e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.38e-1

GenotypeQuality
all individuals: 1024
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
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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
all individuals: 2125
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GenotypeQuality
all individuals: 2734
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66368
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.10798924993892e-5
allele num: 16372
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.65e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.814e0

QD
type: SiteQuality
SIO_000300: 1.093e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 3.9e0

DP
type: SiteQuality
SIO_000300: 2.073538e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.041e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 960
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531534291052777e-5
allele num: 65294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.799718409010911e-5
allele num: 11364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 2.056972e6

QD
type: SiteQuality
SIO_000300: 1.181e1

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-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
all individuals: 1914
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

African
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allele frequency: 9.83477576711251e-5
allele num: 10168
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
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allele count: 0
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allele num: 8434
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 1.974315e6

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

QD
type: SiteQuality
SIO_000300: 1.677e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
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GenotypeQuality
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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: 1150
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518187890933382e-5
allele num: 65868
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 2.596e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.974e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.964e0

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.09e0

DP
type: SiteQuality
SIO_000300: 1.973763e6

GenotypeQuality
all individuals: 4309
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.21654501216545e-3
allele num: 822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 4.3265e4

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.31e-2

MQ
type: SiteQuality
SIO_000300: 6.153e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.31e1

GenotypeQuality
all individuals: 751
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 258
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.184834123222749e-3
allele num: 844
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.268e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.27e-2

DP
type: SiteQuality
SIO_000300: 4.3546e4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 8.91e0