12-10271029-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271029
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271029
    reference: chr 12
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.*28T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.*28T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*83T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.*28T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.*28T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.2072T>C
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53345
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

12-10271035-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271035
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271035
    reference: chr 12
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.*22G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.*22G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.2066G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*77G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.*22G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.*22G>A
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53353
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

12-10271036-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271036
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271036
    reference: chr 12
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*76A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.*21A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.*21A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.2065A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.*21A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.*21A>G
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53351
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-10271045-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271045
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271045
    reference: chr 12
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.*12G>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.2056G>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*67G>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.*12G>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.*12G>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.*12G>T
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

12-10271048-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271048
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271048
    reference: chr 12
allele count: 4
allele frequency: 3.295164346321773e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.*9G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.*9G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.*9G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*64G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.*9G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.2053G>A
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7267
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53362
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

12-10271055-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271055
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271055
    reference: chr 12
allele count: 89998
allele frequency: 7.41493235783611e-1
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.*2A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.*2A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.2046A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.*2A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.*2A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*57A>G
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 4.75e1
  variant carriers: 915
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 3.75e1
  variant carriers: 251
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.25e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 7.75e1
  variant carriers: 3738
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 3122
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 5.75e1
  variant carriers: 2046
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 4.25e1
  variant carriers: 498
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 2.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 25569
  bin: 9.75e1
  variant carriers: 25334
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 8.25e1
  variant carriers: 3696
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 7.25e1
  variant carriers: 3502
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 8.75e1
  variant carriers: 3647
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 5.25e1
  variant carriers: 1472
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 6.25e1
  variant carriers: 2707
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 9.25e1
  variant carriers: 3439
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 6.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 9.25e1
  variant carriers: 33
num of homozygotes: 35469
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-10271062-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271062
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271062
    reference: chr 12
allele count: 34
allele frequency: 2.800520567352519e-4
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.739A>T
  hgvsp: ENSP00000302569.8:p.Met247Leu
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.739A>T
  hgvsp: ENSP00000432876.1:p.Met247Leu
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*212A>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*50A>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.502A>T
  hgvsp: ENSP00000379743.2:p.Met168Leu
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.601A>T
  hgvsp: ENSP00000266456.6:p.Met201Leu
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.*50A>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*525A>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.2039A>T
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7072
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met247Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP

12-10271062-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271062
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271062
    reference: chr 12
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.739A>G
  hgvsp: ENSP00000302569.8:p.Met247Val
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*50A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.601A>G
  hgvsp: ENSP00000266456.6:p.Met201Val
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.502A>G
  hgvsp: ENSP00000379743.2:p.Met168Val
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*525A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.*50A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.739A>G
  hgvsp: ENSP00000432876.1:p.Met247Val
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*212A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.2039A>G
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7072
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met247Val
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

12-10271068-ACTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271068
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271065
    reference: chr 12
allele count: 9
allele frequency: 7.413142678286081e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.730_732delAAG
  hgvsp: ENSP00000432876.1:p.Lys244del
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.730_732delAAG
  hgvsp: ENSP00000302569.8:p.Lys244del
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*516_*518delAAG
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*203_*205delAAG
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.493_495delAAG
  hgvsp: ENSP00000379743.2:p.Lys165del
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*41_*43delAAG
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.592_594delAAG
  hgvsp: ENSP00000266456.6:p.Lys198del
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.*41_*43delAAG
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.2030_2032delAAG
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys244del
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: ACTT
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP

12-10271070-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271070
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271070
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.731A>C
  hgvsp: ENSP00000302569.8:p.Lys244Thr
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.593A>C
  hgvsp: ENSP00000266456.6:p.Lys198Thr
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*204A>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.*42A>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.2031A>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.494A>C
  hgvsp: ENSP00000379743.2:p.Lys165Thr
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*517A>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.731A>C
  hgvsp: ENSP00000432876.1:p.Lys244Thr
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*42A>C
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys244Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

12-10271084-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271084
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271084
    reference: chr 12
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*190T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.2017T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*503T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.579T>C
  hgvsp: ENST00000353231.5:c.579T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*28T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.*28T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.480T>C
  hgvsp: ENST00000396484.2:c.480T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.717T>C
  hgvsp: ENST00000304084.8:c.717T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.717T>C
  hgvsp: ENST00000529761.1:c.717T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7059
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  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: 1.75e1
  variant carriers: 0
hgvs: p.Ser239Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

12-10271085-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271085
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271085
    reference: chr 12
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.*27G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*502G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*27G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.578G>A
  hgvsp: ENSP00000266456.6:p.Ser193Asn
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.479G>A
  hgvsp: ENSP00000379743.2:p.Ser160Asn
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.716G>A
  hgvsp: ENSP00000302569.8:p.Ser239Asn
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.716G>A
  hgvsp: ENSP00000432876.1:p.Ser239Asn
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*189G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.2016G>A
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7059
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser239Asn
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-10271087-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271087
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271087
    reference: chr 12
allele count: 7657
allele frequency: 6.30704095416955e-2
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*187T>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.714T>G
  hgvsp: ENSP00000432876.1:p.Tyr238Ter
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*500T>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*25T>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  clinical significance: pathogenic&risk_factor
  consequence: stop_gained
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.714T>G
  hgvsp: ENSP00000302569.8:p.Tyr238Ter
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: stop_gained
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.576T>G
  hgvsp: ENSP00000266456.6:p.Tyr192Ter
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.*25T>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: stop_gained
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.477T>G
  hgvsp: ENSP00000379743.2:p.Tyr159Ter
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.2014T>G
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 3.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7958
  bin: 9.75e1
  variant carriers: 3674
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 7.25e1
  variant carriers: 421
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 4.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 6.25e1
  variant carriers: 282
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 8.75e1
  variant carriers: 489
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 9.25e1
  variant carriers: 473
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 7.75e1
  variant carriers: 520
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 8.25e1
  variant carriers: 513
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 6.75e1
  variant carriers: 369
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 4.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 5.75e1
  variant carriers: 236
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 5.25e1
  variant carriers: 149
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr238Ter
num of homozygotes: 330
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

12-10271087-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271087
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271087
    reference: chr 12
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*500T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.*25T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  clinical significance: pathogenic&risk_factor
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.714T>C
  hgvsp: ENST00000304084.8:c.714T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.576T>C
  hgvsp: ENST00000353231.5:c.576T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*25T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.477T>C
  hgvsp: ENST00000396484.2:c.477T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.2014T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*187T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&risk_factor
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.714T>C
  hgvsp: ENST00000529761.1:c.714T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7958
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr238Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

12-10271089-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271089
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271089
    reference: chr 12
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*23T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*498T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.2012T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.712T>C
  hgvsp: ENSP00000432876.1:p.Tyr238His
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.712T>C
  hgvsp: ENSP00000302569.8:p.Tyr238His
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.*23T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*185T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.475T>C
  hgvsp: ENSP00000379743.2:p.Tyr159His
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.574T>C
  hgvsp: ENSP00000266456.6:p.Tyr192His
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr238His
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

12-10271090-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271090
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271090
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.2011A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.474A>G
  hgvsp: ENST00000396484.2:c.474A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.573A>G
  hgvsp: ENST00000353231.5:c.573A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.711A>G
  hgvsp: ENST00000304084.8:c.711A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*497A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.*22A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*184A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*22A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.711A>G
  hgvsp: ENST00000529761.1:c.711A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser237Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

12-10271091-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271091
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271091
    reference: chr 12
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.473C>T
  hgvsp: ENSP00000379743.2:p.Ser158Leu
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*496C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.2010C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.710C>T
  hgvsp: ENSP00000432876.1:p.Ser237Leu
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.710C>T
  hgvsp: ENSP00000302569.8:p.Ser237Leu
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*21C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.572C>T
  hgvsp: ENSP00000266456.6:p.Ser191Leu
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*183C>T
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser237Leu
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

12-10271094-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271094
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271094
    reference: chr 12
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.707C>T
  hgvsp: ENSP00000432876.1:p.Pro236Leu
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*18C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*180C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.707C>T
  hgvsp: ENSP00000302569.8:p.Pro236Leu
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.2007C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.569C>T
  hgvsp: ENSP00000266456.6:p.Pro190Leu
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.*18C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.470C>T
  hgvsp: ENSP00000379743.2:p.Pro157Leu
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*493C>T
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro236Leu
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: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-10271103-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271103
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271103
    reference: chr 12
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.*9G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.560G>A
  hgvsp: ENSP00000266456.6:p.Cys187Tyr
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.698G>A
  hgvsp: ENSP00000432876.1:p.Cys233Tyr
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1998G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*171G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.698G>A
  hgvsp: ENSP00000302569.8:p.Cys233Tyr
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*9G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.461G>A
  hgvsp: ENSP00000379743.2:p.Cys154Tyr
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*484G>A
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys233Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

12-10271106-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271106
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271106
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.695T>C
  hgvsp: ENSP00000302569.8:p.Leu232Pro
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*168T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.695T>C
  hgvsp: ENSP00000432876.1:p.Leu232Pro
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.458T>C
  hgvsp: ENSP00000379743.2:p.Leu153Pro
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*6T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.557T>C
  hgvsp: ENSP00000266456.6:p.Leu186Pro
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1995T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.*6T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*481T>C
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu232Pro
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

12-10271108-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271108
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271108
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.555A>G
  hgvsp: ENST00000353231.5:c.555A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.*4A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1993A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*166A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.456A>G
  hgvsp: ENST00000396484.2:c.456A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.*4A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.693A>G
  hgvsp: ENST00000529761.1:c.693A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*479A>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.693A>G
  hgvsp: ENST00000304084.8:c.693A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln231Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

12-10271121-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271121
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271121
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.680T>C
  hgvsp: ENSP00000432876.1:p.Val227Ala
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.561T>C
  hgvsp: ENST00000533022.1:c.561T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.680T>C
  hgvsp: ENSP00000302569.8:p.Val227Ala
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*466T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.423T>C
  hgvsp: ENST00000298523.5:c.423T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.542T>C
  hgvsp: ENSP00000266456.6:p.Val181Ala
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.443T>C
  hgvsp: ENSP00000379743.2:p.Val148Ala
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1980T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*153T>C
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41678
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val227Ala
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

12-10271125-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271125
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271125
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.439T>A
  hgvsp: ENSP00000379743.2:p.Ser147Thr
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1976T>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*149T>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.419T>A
  hgvsp: ENSP00000298523.5:p.Val140Asp
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.676T>A
  hgvsp: ENSP00000302569.8:p.Ser226Thr
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.557T>A
  hgvsp: ENSP00000431461.1:p.Val186Asp
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.676T>A
  hgvsp: ENSP00000432876.1:p.Ser226Thr
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*462T>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.538T>A
  hgvsp: ENSP00000266456.6:p.Ser180Thr
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser226Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/12-10271127-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271127
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271127
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*460T>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.555T>G
  hgvsp: ENST00000533022.1:c.555T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1974T>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*147T>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.437T>G
  hgvsp: ENSP00000379743.2:p.Val146Gly
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.674T>G
  hgvsp: ENSP00000302569.8:p.Val225Gly
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.417T>G
  hgvsp: ENST00000298523.5:c.417T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.674T>G
  hgvsp: ENSP00000432876.1:p.Val225Gly
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.536T>G
  hgvsp: ENSP00000266456.6:p.Val179Gly
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val225Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-10271128-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271128
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271128
    reference: chr 12
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.436G>A
  hgvsp: ENSP00000379743.2:p.Val146Met
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*459G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.554G>A
  hgvsp: ENSP00000431461.1:p.Arg185His
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1973G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.416G>A
  hgvsp: ENSP00000298523.5:p.Arg139His
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.673G>A
  hgvsp: ENSP00000302569.8:p.Val225Met
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.535G>A
  hgvsp: ENSP00000266456.6:p.Val179Met
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.673G>A
  hgvsp: ENSP00000432876.1:p.Val225Met
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*146G>A
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val225Met
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-10271129-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271129
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271129
    reference: chr 12
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.435C>T
  hgvsp: ENST00000396484.2:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.553C>T
  hgvsp: ENSP00000431461.1:p.Arg185Cys
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.534C>T
  hgvsp: ENST00000353231.5:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.672C>T
  hgvsp: ENST00000529761.1:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1972C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.415C>T
  hgvsp: ENSP00000298523.5:p.Arg139Cys
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*145C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.672C>T
  hgvsp: ENST00000304084.8:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*458C>T
  variant of: http://identifiers.org/hgnc/14558
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg139Cys
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-10271133-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271133
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271133
    reference: chr 12
allele count: 393
allele frequency: 3.237178959160475e-3
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*141T>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.668T>G
  hgvsp: ENSP00000432876.1:p.Ile223Ser
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*454T>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1968T>G
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.530T>G
  hgvsp: ENSP00000266456.6:p.Ile177Ser
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.668T>G
  hgvsp: ENSP00000302569.8:p.Ile223Ser
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.549T>G
  hgvsp: ENSP00000431461.1:p.Asp183Glu
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.431T>G
  hgvsp: ENSP00000379743.2:p.Ile144Ser
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.411T>G
  hgvsp: ENSP00000298523.5:p.Asp137Glu
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 8.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 9.75e1
  variant carriers: 277
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 9.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile223Ser
num of homozygotes: 8
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-10271136-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271136
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271136
    reference: chr 12
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1965G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.428G>A
  hgvsp: ENSP00000379743.2:p.Trp143Ter
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*138G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.527G>A
  hgvsp: ENSP00000266456.6:p.Trp176Ter
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*451G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.665G>A
  hgvsp: ENSP00000432876.1:p.Trp222Ter
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.546G>A
  hgvsp: ENSP00000431461.1:p.Met182Ile
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.408G>A
  hgvsp: ENSP00000298523.5:p.Met136Ile
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.665G>A
  hgvsp: ENSP00000302569.8:p.Trp222Ter
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Trp222Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ

12-10271137-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271137
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271137
    reference: chr 12
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*450T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1964T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.664T>C
  hgvsp: ENSP00000432876.1:p.Trp222Arg
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*137T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.545T>C
  hgvsp: ENSP00000431461.1:p.Met182Thr
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.664T>C
  hgvsp: ENSP00000302569.8:p.Trp222Arg
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.407T>C
  hgvsp: ENSP00000298523.5:p.Met136Thr
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.526T>C
  hgvsp: ENSP00000266456.6:p.Trp176Arg
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.427T>C
  hgvsp: ENSP00000379743.2:p.Trp143Arg
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41576
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Trp222Arg
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-10271144-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271144
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271144
    reference: chr 12
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*443T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.420T>C
  hgvsp: ENST00000396484.2:c.420T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.538T>C
  hgvsp: ENST00000533022.1:c.538T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.400T>C
  hgvsp: ENST00000298523.5:c.400T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.657T>C
  hgvsp: ENST00000304084.8:c.657T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.657T>C
  hgvsp: ENST00000529761.1:c.657T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1957T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.519T>C
  hgvsp: ENST00000353231.5:c.519T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*130T>C
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn219Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

12-10271156-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271156
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271156
    reference: chr 12
allele count: 16
allele frequency: 1.318065738528709e-4
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*431C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.408C>T
  hgvsp: ENST00000396484.2:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.645C>T
  hgvsp: ENST00000304084.8:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.645C>T
  hgvsp: ENST00000529761.1:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.388C>T
  hgvsp: ENSP00000298523.5:p.Pro130Ser
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.507C>T
  hgvsp: ENST00000353231.5:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.526C>T
  hgvsp: ENSP00000431461.1:p.Pro176Ser
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*118C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1945C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000434392
  ensembl transcript: ENST00000531192
  gene symbol: CLEC7A
  hgvsc: ENST00000531192.1:c.*153C>T
  variant of: http://identifiers.org/hgnc/14558
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro130Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ

12-10271165-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271165
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271165
    reference: chr 12
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.498C>T
  hgvsp: ENST00000353231.5:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.636C>T
  hgvsp: ENST00000529761.1:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.379C>T
  hgvsp: ENSP00000298523.5:p.Pro127Ser
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.636C>T
  hgvsp: ENST00000304084.8:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000434392
  ensembl transcript: ENST00000531192
  gene symbol: CLEC7A
  hgvsc: ENST00000531192.1:c.*144C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.399C>T
  hgvsp: ENST00000396484.2:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.517C>T
  hgvsp: ENSP00000431461.1:p.Pro173Ser
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1936C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*109C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*422C>T
  variant of: http://identifiers.org/hgnc/14558
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro127Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

12-10271174-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271174
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271174
    reference: chr 12
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*413C>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.489C>A
  hgvsp: ENST00000353231.5:c.489C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.627C>A
  hgvsp: ENST00000529761.1:c.627C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1927C>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000434392
  ensembl transcript: ENST00000531192
  gene symbol: CLEC7A
  hgvsc: ENST00000531192.1:c.*135C>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.627C>A
  hgvsp: ENST00000304084.8:c.627C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.508C>A
  hgvsp: ENSP00000431461.1:p.His170Asn
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.370C>A
  hgvsp: ENSP00000298523.5:p.His124Asn
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.390C>A
  hgvsp: ENST00000396484.2:c.390C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*100C>A
  variant of: http://identifiers.org/hgnc/14558
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His124Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS

12-10271188-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271188
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271188
    reference: chr 12
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*399T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.494T>C
  hgvsp: ENSP00000431461.1:p.Ile165Thr
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.613T>C
  hgvsp: ENSP00000432876.1:p.Phe205Leu
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.356T>C
  hgvsp: ENSP00000298523.5:p.Ile119Thr
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1913T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.475T>C
  hgvsp: ENSP00000266456.6:p.Phe159Leu
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*86T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.376T>C
  hgvsp: ENSP00000379743.2:p.Phe126Leu
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.613T>C
  hgvsp: ENSP00000302569.8:p.Phe205Leu
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000434392
  ensembl transcript: ENST00000531192
  gene symbol: CLEC7A
  hgvsc: ENST00000531192.1:c.*121T>C
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe205Leu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS

12-10271189-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271189
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271189
    reference: chr 12
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.375A>T
  hgvsp: ENSP00000379743.2:p.Leu125Phe
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*398A>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1912A>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.612A>T
  hgvsp: ENSP00000432876.1:p.Leu204Phe
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.493A>T
  hgvsp: ENSP00000431461.1:p.Ile165Phe
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*85A>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.355A>T
  hgvsp: ENSP00000298523.5:p.Ile119Phe
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000434392
  ensembl transcript: ENST00000531192
  gene symbol: CLEC7A
  hgvsc: ENST00000531192.1:c.*120A>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.474A>T
  hgvsp: ENSP00000266456.6:p.Leu158Phe
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.612A>T
  hgvsp: ENSP00000302569.8:p.Leu204Phe
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu204Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

12-10271201-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271201
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271201
    reference: chr 12
allele count: 1
allele frequency: 8.267742575567167e-6
allele num: 120952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1912-12C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.355-12C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.612-12C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*85-12C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.493-12C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.375-12C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.474-12C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*398-12C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000434392
  ensembl transcript: ENST00000531192
  gene symbol: CLEC7A
  hgvsc: ENST00000531192.1:c.*120-12C>T
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.612-12C>T
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41556
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

12-10271206-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271206
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271206
    reference: chr 12
allele count: 1
allele frequency: 8.273077750384698e-6
allele num: 120874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000434392
  ensembl transcript: ENST00000531192
  gene symbol: CLEC7A
  hgvsc: ENST00000531192.1:c.*120-17G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.474-17G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*85-17G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.612-17G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.355-17G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1912-17G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.612-17G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.493-17G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*398-17G>A
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.375-17G>A
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

12-10271211-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271211
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271211
    reference: chr 12
allele count: 39
allele frequency: 3.228637183966091e-4
allele num: 120794
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.355-22T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.612-22T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*85-22T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000434392
  ensembl transcript: ENST00000531192
  gene symbol: CLEC7A
  hgvsc: ENST00000531192.1:c.*120-22T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*398-22T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.474-22T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.493-22T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.375-22T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.612-22T>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1912-22T>C
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6621
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-10271217-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10271217
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 10271217
    reference: chr 12
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000436923
  ensembl transcript: ENST00000465100
  gene symbol: CLEC7A
  hgvsc: ENST00000465100.1:c.*398-28A>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000344723
  ensembl transcript: ENST00000349926
  gene symbol: CLEC7A
  hgvsc: ENST00000349926.5:c.*85-28A>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl transcript: ENST00000534609
  gene symbol: CLEC7A
  hgvsc: ENST00000534609.1:n.1912-28A>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000434392
  ensembl transcript: ENST00000531192
  gene symbol: CLEC7A
  hgvsc: ENST00000531192.1:c.*120-28A>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000379743
  ensembl transcript: ENST00000396484
  gene symbol: CLEC7A
  hgvsc: ENST00000396484.2:c.375-28A>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000266456
  ensembl transcript: ENST00000353231
  gene symbol: CLEC7A
  hgvsc: ENST00000353231.5:c.474-28A>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000431461
  ensembl transcript: ENST00000533022
  gene symbol: CLEC7A
  hgvsc: ENST00000533022.1:c.493-28A>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000302569
  ensembl transcript: ENST00000304084
  gene symbol: CLEC7A
  hgvsc: ENST00000304084.8:c.612-28A>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000432876
  ensembl transcript: ENST00000529761
  gene symbol: CLEC7A
  hgvsc: ENST00000529761.1:c.612-28A>C
  variant of: http://identifiers.org/hgnc/14558
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172243
  ensembl protein: ENSP00000298523
  ensembl transcript: ENST00000298523
  gene symbol: CLEC7A
  hgvsc: ENST00000298523.5:c.355-28A>C
  variant of: http://identifiers.org/hgnc/14558
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

14-55241886-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55241886
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55241886
    reference: chr 14
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1914+33C>G
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.174+33C>G
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.690+33C>G
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1917+33C>G
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1917+33C>G
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1653+33C>G
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3983
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9915
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

14-55241890-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55241890
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55241890
    reference: chr 14
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.690+37G>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.174+37G>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1917+37G>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1653+37G>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1917+37G>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1914+37G>A
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9915
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3976
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

14-55241893-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55241893
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55241893
    reference: chr 14
allele count: 6
allele frequency: 4.948290365678658e-5
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1917+40C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1653+40C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.690+40C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.174+40C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1914+40C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1917+40C>T
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20229
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9919
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4425
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

14-55243081-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243081
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243081
    reference: chr 14
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1918-51C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1654-51C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.175-51C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1915-51C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.691-51C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1918-51C>T
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16173
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48519
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4603
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-55243085-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243085
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243085
    reference: chr 14
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1918-47C>G
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1915-47C>G
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.175-47C>G
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1918-47C>G
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.691-47C>G
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1654-47C>G
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16172
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-55243086-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243086
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243086
    reference: chr 14
allele count: 2
allele frequency: 1.654971534489607e-5
allele num: 120848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1654-46C>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1915-46C>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.175-46C>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1918-46C>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.691-46C>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1918-46C>A
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 7.75e1
  variant carriers: 0
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: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

14-55243090-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243090
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243090
    reference: chr 14
allele count: 1
allele frequency: 8.271161767381846e-6
allele num: 120902
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.175-42T>G
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1654-42T>G
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1915-42T>G
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.691-42T>G
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1918-42T>G
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1918-42T>G
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16171
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

14-55243094-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243094
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243094
    reference: chr 14
allele count: 1
allele frequency: 8.266922390132602e-6
allele num: 120964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1915-38G>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1654-38G>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1918-38G>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.175-38G>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.691-38G>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1918-38G>A
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16170
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

14-55243096-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243096
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243096
    reference: chr 14
allele count: 38
allele frequency: 3.141170830095723e-4
allele num: 120974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1915-36T>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.175-36T>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1918-36T>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1654-36T>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1918-36T>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.691-36T>C
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16172
  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48513
  bin: 9.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

14-55243101-TAAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243101
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243098
    reference: chr 14
allele count: 58
allele frequency: 4.791012720964811e-4
allele num: 121060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.691-28_691-26delCAA
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1915-28_1915-26delCAA
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1654-28_1654-26delCAA
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1918-28_1918-26delCAA
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1918-28_1918-26delCAA
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.175-28_175-26delCAA
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16154
  bin: 9.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48506
  bin: 9.75e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: TAAC
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

14-55243107-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243107
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243107
    reference: chr 14
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1915-25G>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.175-25G>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.691-25G>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1654-25G>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1918-25G>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1918-25G>A
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16123
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48499
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

14-55243107-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243107
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243107
    reference: chr 14
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1654-25G>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1915-25G>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.691-25G>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1918-25G>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.175-25G>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1918-25G>C
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16123
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48499
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

14-55243113-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243113
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243114
    reference: chr 14
allele count: 1
allele frequency: 8.25559316436886e-6
allele num: 121130
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1654-15dupT
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1915-15dupT
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.175-15dupT
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1918-15dupT
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.691-15dupT
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1918-15dupT
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16121
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

14-55243119-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243119
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243119
    reference: chr 14
allele count: 6
allele frequency: 4.952947003467063e-5
allele num: 121140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.691-13C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1915-13C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.175-13C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1654-13C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1918-13C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1918-13C>T
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

14-55243123-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243123
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243123
    reference: chr 14
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1654-9T>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1915-9T>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1918-9T>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.175-9T>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.691-9T>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1918-9T>C
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16119
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

14-55243128-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243128
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243128
    reference: chr 14
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1918-4C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.175-4C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1918-4C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1654-4C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1915-4C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.691-4C>T
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48499
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1918-4C>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

14-55243129-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243129
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243129
    reference: chr 14
allele count: 4
allele frequency: 3.301256127956687e-5
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.691-3C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1915-3C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.175-3C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000553988
  gene symbol: SAMD4A
  hgvsc: ENST00000553988.1:n.1C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1654-3C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1918-3C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1918-3C>T
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16117
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1918-3C>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/14-55243134-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243134
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243134
    reference: chr 14
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1656C>A
  hgvsp: ENSP00000251091.5:p.Asn552Lys
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.177C>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1917C>A
  hgvsp: ENSP00000350261.3:p.Asn639Lys
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1920C>A
  hgvsp: ENSP00000452535.1:p.Asn640Lys
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000553988
  gene symbol: SAMD4A
  hgvsc: ENST00000553988.1:n.6C>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1920C>A
  hgvsp: ENSP00000375919.3:p.Asn640Lys
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.693C>A
  hgvsp: ENSP00000450808.1:p.Asn231Lys
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48502
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn640Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD

14-55243134-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243134
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243134
    reference: chr 14
allele count: 17
allele frequency: 1.403033854381592e-4
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000553988
  gene symbol: SAMD4A
  hgvsc: ENST00000553988.1:n.6C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1920C>T
  hgvsp: ENST00000554335.1:c.1920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1920C>T
  hgvsp: ENST00000392067.3:c.1920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.693C>T
  hgvsp: ENST00000555192.1:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.177C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1656C>T
  hgvsp: ENST00000251091.5:c.1656C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1917C>T
  hgvsp: ENST00000357634.3:c.1917C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16116
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1920C>T
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

14-55243136-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243136
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243136
    reference: chr 14
allele count: 2
allele frequency: 1.650709805216243e-5
allele num: 121160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.179T>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1922T>C
  hgvsp: ENSP00000452535.1:p.Leu641Pro
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1658T>C
  hgvsp: ENSP00000251091.5:p.Leu553Pro
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1922T>C
  hgvsp: ENSP00000375919.3:p.Leu641Pro
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.695T>C
  hgvsp: ENSP00000450808.1:p.Leu232Pro
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1919T>C
  hgvsp: ENSP00000350261.3:p.Leu640Pro
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000553988
  gene symbol: SAMD4A
  hgvsc: ENST00000553988.1:n.8T>C
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16107
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7351
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu641Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/14-55243145-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243145
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243145
    reference: chr 14
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1667C>A
  hgvsp: ENSP00000251091.5:p.Ala556Asp
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.704C>A
  hgvsp: ENSP00000450808.1:p.Ala235Asp
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1928C>A
  hgvsp: ENSP00000350261.3:p.Ala643Asp
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1931C>A
  hgvsp: ENSP00000452535.1:p.Ala644Asp
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.188C>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1931C>A
  hgvsp: ENSP00000375919.3:p.Ala644Asp
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000553988
  gene symbol: SAMD4A
  hgvsc: ENST00000553988.1:n.17C>A
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16107
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6990
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48497
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala644Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/14-55243148-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243148
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243148
    reference: chr 14
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1670A>C
  hgvsp: ENSP00000251091.5:p.Asn557Thr
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1931A>C
  hgvsp: ENSP00000350261.3:p.Asn644Thr
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000553988
  gene symbol: SAMD4A
  hgvsc: ENST00000553988.1:n.20A>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1934A>C
  hgvsp: ENSP00000452535.1:p.Asn645Thr
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.707A>C
  hgvsp: ENSP00000450808.1:p.Asn236Thr
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.191A>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1934A>C
  hgvsp: ENSP00000375919.3:p.Asn645Thr
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Asn645Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-55243152-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243152
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243152
    reference: chr 14
allele count: 4021
allele frequency: 3.320725422832981e-2
allele num: 121088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.195C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1935C>T
  hgvsp: ENST00000357634.3:c.1935C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.711C>T
  hgvsp: ENST00000555192.1:c.711C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000553988
  gene symbol: SAMD4A
  hgvsc: ENST00000553988.1:n.24C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1674C>T
  hgvsp: ENST00000251091.5:c.1674C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1938C>T
  hgvsp: ENST00000554335.1:c.1938C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1938C>T
  hgvsp: ENST00000392067.3:c.1938C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 5.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 16080
  bin: 9.75e1
  variant carriers: 3098
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 7.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 2.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 4.75e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 2.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 6.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 7.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 5.25e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro646Pro
num of homozygotes: 94
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

14-55243152-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243152
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243151
    reference: chr 14
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.200delG
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.716delG
  hgvsp: ENSP00000450808.1:p.Gly239AlafsTer29
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1940delG
  hgvsp: ENSP00000350261.3:p.Gly647AlafsTer29
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000553988
  gene symbol: SAMD4A
  hgvsc: ENST00000553988.1:n.29delG
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1943delG
  hgvsp: ENSP00000452535.1:p.Gly648AlafsTer29
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1679delG
  hgvsp: ENSP00000251091.5:p.Gly560AlafsTer29
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1943delG
  hgvsp: ENSP00000375919.3:p.Gly648AlafsTer29
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16080
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49088
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly648AlafsTer29
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: CG
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-55243153-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243153
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243153
    reference: chr 14
allele count: 2
allele frequency: 1.65180046250413e-5
allele num: 121080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.712G>A
  hgvsp: ENSP00000450808.1:p.Gly238Arg
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000553988
  gene symbol: SAMD4A
  hgvsc: ENST00000553988.1:n.25G>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1939G>A
  hgvsp: ENSP00000375919.3:p.Gly647Arg
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1936G>A
  hgvsp: ENSP00000350261.3:p.Gly646Arg
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1675G>A
  hgvsp: ENSP00000251091.5:p.Gly559Arg
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1939G>A
  hgvsp: ENSP00000452535.1:p.Gly647Arg
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.196G>A
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16021
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly647Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

14-55243154-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243154
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243154
    reference: chr 14
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1676G>A
  hgvsp: ENSP00000251091.5:p.Gly559Glu
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1937G>A
  hgvsp: ENSP00000350261.3:p.Gly646Glu
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.197G>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.713G>A
  hgvsp: ENSP00000450808.1:p.Gly238Glu
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1940G>A
  hgvsp: ENSP00000375919.3:p.Gly647Glu
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000553988
  gene symbol: SAMD4A
  hgvsc: ENST00000553988.1:n.26G>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1940G>A
  hgvsp: ENSP00000452535.1:p.Gly647Glu
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16021
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48638
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly647Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

14-55243155-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243155
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243155
    reference: chr 14
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1677G>C
  hgvsp: ENST00000251091.5:c.1677G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.198G>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1938G>C
  hgvsp: ENST00000357634.3:c.1938G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1941G>C
  hgvsp: ENST00000554335.1:c.1941G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.714G>C
  hgvsp: ENST00000555192.1:c.714G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000553988
  gene symbol: SAMD4A
  hgvsc: ENST00000553988.1:n.27G>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1941G>C
  hgvsp: ENST00000392067.3:c.1941G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16019
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48639
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly647Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/14-55243163-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243163
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243163
    reference: chr 14
allele count: 2
allele frequency: 1.652373634726284e-5
allele num: 121038
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.722A>C
  hgvsp: ENSP00000450808.1:p.Asn241Thr
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000553988
  gene symbol: SAMD4A
  hgvsc: ENST00000553988.1:n.35A>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1946A>C
  hgvsp: ENSP00000350261.3:p.Asn649Thr
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1685A>C
  hgvsp: ENSP00000251091.5:p.Asn562Thr
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1949A>C
  hgvsp: ENSP00000452535.1:p.Asn650Thr
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1949A>C
  hgvsp: ENSP00000375919.3:p.Asn650Thr
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.206A>C
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16017
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn650Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

14-55243168-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243168
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243168
    reference: chr 14
allele count: 1
allele frequency: 8.267195767195768e-6
allele num: 120960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.727A>G
  hgvsp: ENSP00000450808.1:p.Met243Val
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000553988
  gene symbol: SAMD4A
  hgvsc: ENST00000553988.1:n.40A>G
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1951A>G
  hgvsp: ENSP00000350261.3:p.Met651Val
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1690A>G
  hgvsp: ENSP00000251091.5:p.Met564Val
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.211A>G
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1954A>G
  hgvsp: ENSP00000375919.3:p.Met652Val
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1954A>G
  hgvsp: ENSP00000452535.1:p.Met652Val
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16015
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48636
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met652Val
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: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/14-55243172-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243172
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243172
    reference: chr 14
allele count: 26
allele frequency: 2.171443843121534e-4
allele num: 119736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1694C>A
  hgvsp: ENSP00000251091.5:p.Pro565Gln
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1955C>A
  hgvsp: ENSP00000350261.3:p.Pro652Gln
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.215C>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1958C>A
  hgvsp: ENSP00000452535.1:p.Pro653Gln
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.731C>A
  hgvsp: ENSP00000450808.1:p.Pro244Gln
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000553988
  gene symbol: SAMD4A
  hgvsc: ENST00000553988.1:n.44C>A
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1958C>A
  hgvsp: ENSP00000375919.3:p.Pro653Gln
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16008
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 48379
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 2
hgvs: p.Pro653Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/14-55243174-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243174
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243174
    reference: chr 14
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000553988
  gene symbol: SAMD4A
  hgvsc: ENST00000553988.1:n.46A>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.733A>C
  hgvsp: ENSP00000450808.1:p.Ser245Arg
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.217A>C
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1960A>C
  hgvsp: ENSP00000375919.3:p.Ser654Arg
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1696A>C
  hgvsp: ENSP00000251091.5:p.Ser566Arg
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1957A>C
  hgvsp: ENSP00000350261.3:p.Ser653Arg
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1960A>C
  hgvsp: ENSP00000452535.1:p.Ser654Arg
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15864
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser654Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

14-55243177-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55243177
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 55243177
    reference: chr 14
allele count: 4
allele frequency: 3.305894409732553e-5
allele num: 120996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000450808
  ensembl transcript: ENST00000555192
  gene symbol: SAMD4A
  hgvsc: ENST00000555192.1:c.736C>T
  hgvsp: ENSP00000450808.1:p.Arg246Cys
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000375919
  ensembl transcript: ENST00000392067
  gene symbol: SAMD4A
  hgvsc: ENST00000392067.3:c.1963C>T
  hgvsp: ENSP00000375919.3:p.Arg655Cys
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000251091
  ensembl transcript: ENST00000251091
  gene symbol: SAMD4A
  hgvsc: ENST00000251091.5:c.1699C>T
  hgvsp: ENSP00000251091.5:p.Arg567Cys
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000452535
  ensembl transcript: ENST00000554335
  gene symbol: SAMD4A
  hgvsc: ENST00000554335.1:c.1963C>T
  hgvsp: ENSP00000452535.1:p.Arg655Cys
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000020577
  ensembl protein: ENSP00000350261
  ensembl transcript: ENST00000357634
  gene symbol: SAMD4A
  hgvsc: ENST00000357634.3:c.1960C>T
  hgvsp: ENSP00000350261.3:p.Arg654Cys
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000556069
  gene symbol: SAMD4A
  hgvsc: ENST00000556069.1:n.220C>T
  variant of: http://identifiers.org/hgnc/23023
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000020577
  ensembl transcript: ENST00000553988
  gene symbol: SAMD4A
  hgvsc: ENST00000553988.1:n.49C>T
  variant of: http://identifiers.org/hgnc/23023
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15863
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48510
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg655Cys
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 627
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1094
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
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: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.21e-1

FS
type: SiteQuality
SIO_000300: 6.832e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.253e0

DP
type: SiteQuality
SIO_000300: 4.05196e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

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

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

GenotypeQuality
all individuals: 1473
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1095
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 66728
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.22e-1

FS
type: SiteQuality
SIO_000300: 1.397e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e0

QD
type: SiteQuality
SIO_000300: 7.9e0

DP
type: SiteQuality
SIO_000300: 4.052236e6

VQSLOD
type: SiteQuality
SIO_000300: -3.89e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 628
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 945
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 4.052284e6

QD
type: SiteQuality
SIO_000300: 1.505e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.793e0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

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

GenotypeQuality
all individuals: 53360
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 953
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.633e0

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

FS
type: SiteQuality
SIO_000300: 2.835e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

QD
type: SiteQuality
SIO_000300: 9.050000000000001e0

DP
type: SiteQuality
SIO_000300: 4.05276e6

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

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

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

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 848
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422774076317383e-4
allele num: 16510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.136e0

FS
type: SiteQuality
SIO_000300: 1.666e0

MQRankSum
type: SiteQuality
SIO_000300: 6.24e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 4.053003e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

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

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 2

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

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 266
bin: 7.75e1
variant carriers: 11

GenotypeQuality
all individuals: 58257
bin: 9.75e1
variant carriers: 54417

GenotypeQuality
all individuals: 288
bin: 8.25e1
variant carriers: 24

East Asian
type: Population
allele count: 2676
allele frequency: 3.095788986580287e-1
allele num: 8644
num of homozygotes: 396

European (Finnish)
type: Population
allele count: 5492
allele frequency: 8.308623298033283e-1
allele num: 6610
num of homozygotes: 2281

African
type: Population
allele count: 9067
allele frequency: 8.716592962891752e-1
allele num: 10402
num of homozygotes: 3958

Other
type: Population
allele count: 712
allele frequency: 7.841409691629956e-1
allele num: 908
num of homozygotes: 288

Latino
type: Population
allele count: 6216
allele frequency: 5.373443983402489e-1
allele num: 11568
num of homozygotes: 1701

European (Non-Finnish)
type: Population
allele count: 57070
allele frequency: 8.552118923455014e-1
allele num: 66732
num of homozygotes: 24419

South Asian
type: Population
allele count: 8765
allele frequency: 5.308903694730467e-1
allele num: 16510
num of homozygotes: 2426

VQSLOD
type: SiteQuality
SIO_000300: 7.43e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

QD
type: SiteQuality
SIO_000300: 2.847e1

DP
type: SiteQuality
SIO_000300: 5.929468e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2518
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1080
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1963
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1240
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44133
bin: 9.75e1
variant carriers: 34

GenotypeQuality
all individuals: 5352
bin: 6.25e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.454828122300915e-4
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 29
allele frequency: 2.787389465590157e-3
allele num: 10404
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.696507e6

GenotypeQuality
all individuals: 1080
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2335
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 44133
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2518
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2066
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

DP
type: SiteQuality
SIO_000300: 3.696507e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.07e0

QD
type: SiteQuality
SIO_000300: 1.421e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

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

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
all individuals: 1078
bin: 7.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2518
bin: 9.25e1
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GenotypeQuality
all individuals: 1965
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2337
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44123
bin: 9.75e1
variant carriers: 9

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.19871737241152e-4
allele num: 66738
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 1.818e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.719e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

FS
type: SiteQuality
SIO_000300: 5.3e-1

DP
type: SiteQuality
SIO_000300: 3.695021e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2337
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
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: 11578
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
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: 16510
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.476e1

FS
type: SiteQuality
SIO_000300: 5.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

DP
type: SiteQuality
SIO_000300: 3.694998e6

VQSLOD
type: SiteQuality
SIO_000300: -7.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.437e0

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

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

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5360
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2067
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44112
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2519
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.69444e6

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.52e0

QD
type: SiteQuality
SIO_000300: 1.595e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

FS
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

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

GenotypeQuality
all individuals: 44112
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1967
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 2338
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

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

GenotypeQuality
all individuals: 2519
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5361
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2068
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.835e0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.77e-1

DP
type: SiteQuality
SIO_000300: 3.694378e6

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

QD
type: SiteQuality
SIO_000300: 9.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.193e0

GenotypeQuality
all individuals: 2494
bin: 9.25e1
variant carriers: 2

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

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

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

GenotypeQuality
all individuals: 2330
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 44194
bin: 9.75e1
variant carriers: 7322

GenotypeQuality
all individuals: 5356
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2048
bin: 8.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 368
allele frequency: 5.563955246446931e-2
allele num: 6614
num of homozygotes: 13

Latino
type: Population
allele count: 395
allele frequency: 3.411642770772154e-2
allele num: 11578
num of homozygotes: 11

European (Non-Finnish)
type: Population
allele count: 4996
allele frequency: 7.486214337089427e-2
allele num: 66736
num of homozygotes: 201

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

African
type: Population
allele count: 253
allele frequency: 2.431757016532103e-2
allele num: 10404
num of homozygotes: 2

South Asian
type: Population
allele count: 1593
allele frequency: 9.64869775893398e-2
allele num: 16510
num of homozygotes: 100

Other
type: Population
allele count: 51
allele frequency: 5.616740088105727e-2
allele num: 908
num of homozygotes: 3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.767953e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.97e0

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.39e-2

QD
type: SiteQuality
SIO_000300: 1.585e1

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.97e0

DP
type: SiteQuality
SIO_000300: 3.767953e6

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.39e-2

QD
type: SiteQuality
SIO_000300: 1.585e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.37e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 41692
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variant carriers: 2

GenotypeQuality
all individuals: 2333
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.385665e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 1.587e0

QD
type: SiteQuality
SIO_000300: 1.161e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.74e0

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

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

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

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 2809
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1238
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 41691
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

African
type: Population
allele count: 0
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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VQSLOD
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European (Non-Finnish)
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FS
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DP
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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European (Non-Finnish)
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East Asian
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African
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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FS
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MQ
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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ClippingRankSum
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BaseQRankSum
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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DP
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QD
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VQSLOD
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African
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European (Non-Finnish)
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South Asian
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DP
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MQ
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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European (Non-Finnish)
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South Asian
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DP
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MQRankSum
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MQ
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VQSLOD
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MQ
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European (Finnish)
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MQ
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InbreedingCoeff
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FS
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MQRankSum
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QD
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DP
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.996793431028799e-5
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Latino
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South Asian
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Other
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MQ
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FS
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QD
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ClippingRankSum
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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DP
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ReadPosRankSum
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QD
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FS
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66732
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South Asian
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European (Finnish)
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Latino
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allele frequency: 6.909656244601831e-4
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African
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East Asian
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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BaseQRankSum
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FS
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MQ
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Non-Finnish)
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Latino
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Other
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European (Finnish)
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African
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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DP
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FS
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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QD
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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South Asian
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Other
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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African
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Other
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ClippingRankSum
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QD
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VQSLOD
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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Other
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Latino
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European (Finnish)
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num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e-1

QD
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SIO_000300: 9.42e0

InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -1.809e0

MQ
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SIO_000300: 5.97e1

FS
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 4.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-1

DP
type: SiteQuality
SIO_000300: 3.366474e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.32e-1

VQSLOD
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MQRankSum
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SIO_000300: 3.23e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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MQ
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SIO_000300: 5.953e1

ReadPosRankSum
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DP
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SIO_000300: 3.365584e6

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.41e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

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

DP
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SIO_000300: 3.358996e6

MQRankSum
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SIO_000300: 1.55e0

ClippingRankSum
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SIO_000300: -4.34e-1

MQ
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SIO_000300: 5.98e1

InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
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SIO_000300: 1.17e-1

ReadPosRankSum
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SIO_000300: 2.81e-1

QD
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BaseQRankSum
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SIO_000300: 5.11e0

FS
type: SiteQuality
SIO_000300: 2.557e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.16e0

QD
type: SiteQuality
SIO_000300: 1.372e1

DP
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SIO_000300: 3.358869e6

MQ
type: SiteQuality
SIO_000300: 5.812e1

ReadPosRankSum
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SIO_000300: -2.007e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.469e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16250
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QD
type: SiteQuality
SIO_000300: 1.223e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 5.821e0

DP
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InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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SIO_000300: -4.219e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

MQRankSum
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SIO_000300: 8.24e-1

ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502900598154438e-5
allele num: 66538
num of homozygotes: 0

South Asian
type: Population
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Other
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
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SIO_000300: 3.339992e6

MQ
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
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allele num: 8650
num of homozygotes: 0

Latino
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allele frequency: 3.457814661134163e-4
allele num: 11568
num of homozygotes: 0

Other
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allele frequency: 3.31858407079646e-3
allele num: 904
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European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

African
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 31
allele frequency: 4.660532804137351e-4
allele num: 66516
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Other
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South Asian
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European (Finnish)
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.74e0

DP
type: SiteQuality
SIO_000300: 1.798537e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.246e0

QD
type: SiteQuality
SIO_000300: 1.543e1

GenotypeQuality
all individuals: 332
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 5550
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4435
bin: 8.25e1
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: 66686
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
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: 11568
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.468e0

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

FS
type: SiteQuality
SIO_000300: 3.324e0

MQRankSum
type: SiteQuality
SIO_000300: -3.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-1

QD
type: SiteQuality
SIO_000300: 1.422e1

DP
type: SiteQuality
SIO_000300: 1.795116e6

GenotypeQuality
all individuals: 420
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 459
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GenotypeQuality
all individuals: 264
bin: 5.75e1
variant carriers: 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: 6614
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.426595486532395e-4
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00048007681229e-5
allele num: 66656
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.142e0

DP
type: SiteQuality
SIO_000300: 1.790703e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.267e1

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 611
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variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 4.808552e6

FS
type: SiteQuality
SIO_000300: 1.161e0

QD
type: SiteQuality
SIO_000300: 1.205e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.29e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
all individuals: 48511
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5214
bin: 6.25e1
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GenotypeQuality
all individuals: 597
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.082e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.045e0

FS
type: SiteQuality
SIO_000300: 1.5691e1

QD
type: SiteQuality
SIO_000300: 1.049e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.77e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.741e0

DP
type: SiteQuality
SIO_000300: 4.809537e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 48513
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variant carriers: 1

GenotypeQuality
all individuals: 266
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005710850616171e-5
allele num: 66540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
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: 8646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.59e-1

QD
type: SiteQuality
SIO_000300: 8.99e0

VQSLOD
type: SiteQuality
SIO_000300: 7.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 4.809928e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.868e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 584
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 48509
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 332
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 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: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 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: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.812794e6

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.079e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

VQSLOD
type: SiteQuality
SIO_000300: -2.374e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.72e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 48507
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.674922600619196e-5
allele num: 10336
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.214e1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.911e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-2

DP
type: SiteQuality
SIO_000300: 4.817144e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.53e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.76e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.007449237053947e-5
allele num: 66584
num of homozygotes: 0

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

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

African
type: Population
allele count: 34
allele frequency: 3.285659064553537e-3
allele num: 10348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.128201985537444e-5
allele num: 16318
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 47
allele frequency: 7.054938456919844e-4
allele num: 66620
num of homozygotes: 0

Latino
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allele count: 6
allele frequency: 5.183137525915688e-4
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.852080123266564e-4
allele num: 10384
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.34e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.743e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 20
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Other
type: Population
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allele num: 904
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.067e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 602
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GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 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: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.946e1

QD
type: SiteQuality
SIO_000300: 1.31e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e-1

FS
type: SiteQuality
SIO_000300: 5.067e0

MQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.839e0

VQSLOD
type: SiteQuality
SIO_000300: 7.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

DP
type: SiteQuality
SIO_000300: 4.814611e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48500
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.117704637220115e-5
allele num: 16346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

FS
type: SiteQuality
SIO_000300: 1.076e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.219e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.38e-2

MQ
type: SiteQuality
SIO_000300: 6.06e1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 1.288e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.76e-1

DP
type: SiteQuality
SIO_000300: 4.815459e6

GenotypeQuality
all individuals: 1639
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.000900090009001e-5
allele num: 66660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.580000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.7e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.781e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

QD
type: SiteQuality
SIO_000300: 1.046e1

DP
type: SiteQuality
SIO_000300: 4.815962e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 7409
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 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: 16350
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.462e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.115e0

DP
type: SiteQuality
SIO_000300: 4.815954e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 1.107e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7401
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variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 8.25e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 1.14e1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 1.755e0

VQSLOD
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.71e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-1

DP
type: SiteQuality
SIO_000300: 4.816124e6

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
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GenotypeQuality
all individuals: 48500
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
all individuals: 602
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variant carriers: 0

GenotypeQuality
all individuals: 709
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variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.885725278953444e-4
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.816124e6

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 6.326e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

QD
type: SiteQuality
SIO_000300: 1.087e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.872e0

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 188
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
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variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 711
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variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
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GenotypeQuality
all individuals: 601
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GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1643
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 11576
num of homozygotes: 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: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.815936e6

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.424e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.248e1

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 16

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 9.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 14
allele frequency: 8.550140466593379e-4
allele num: 16374
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00048007681229e-5
allele num: 66656
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.815936e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.424e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 4.814341e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.231e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 322
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.169e0

DP
type: SiteQuality
SIO_000300: 4.811792e6

FS
type: SiteQuality
SIO_000300: 3.278e0

QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeQuality
all individuals: 114
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 119
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GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 141
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GenotypeQuality
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GenotypeQuality
all individuals: 335
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GenotypeQuality
all individuals: 603
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48423
bin: 9.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.810582e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.526e0

MQ
type: SiteQuality
SIO_000300: 5.912e1

FS
type: SiteQuality
SIO_000300: 1.386e2

VQSLOD
type: SiteQuality
SIO_000300: -8.845999999999999e1

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

QD
type: SiteQuality
SIO_000300: 1.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.954e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-2

GenotypeQuality
all individuals: 6623
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 49088
bin: 9.75e1
variant carriers: 3925

East Asian
type: Population
allele count: 3
allele frequency: 3.470615455807496e-4
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 87
allele frequency: 8.38635049161365e-3
allele num: 10374
num of homozygotes: 0

South Asian
type: Population
allele count: 941
allele frequency: 5.743408203125e-2
allele num: 16384
num of homozygotes: 45

European (Finnish)
type: Population
allele count: 109
allele frequency: 1.650015137753557e-2
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2614
allele frequency: 3.924571359937543e-2
allele num: 66606
num of homozygotes: 45

Latino
type: Population
allele count: 241
allele frequency: 2.082973206568712e-2
allele num: 11570
num of homozygotes: 4

Other
type: Population
allele count: 26
allele frequency: 2.876106194690265e-2
allele num: 904
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

FS
type: SiteQuality
SIO_000300: 1.113e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

DP
type: SiteQuality
SIO_000300: 4.880077e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.67e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 603
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6623
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 904
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.113e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

DP
type: SiteQuality
SIO_000300: 4.880077e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.67e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

GenotypeQuality
all individuals: 117
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6824
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 48634
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 391
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.75e1
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: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 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: 2
allele frequency: 3.003453972067878e-5
allele num: 66590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.814308e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.66e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

QD
type: SiteQuality
SIO_000300: 1.318e1

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
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variant carriers: 0

GenotypeQuality
all individuals: 6862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 4.814141e6

FS
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.294e1

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.436e0

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

GenotypeQuality
all individuals: 407
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1528
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6827
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 8.25e1
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: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
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: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.207e1

VQSLOD
type: SiteQuality
SIO_000300: 5.01e-1

DP
type: SiteQuality
SIO_000300: 4.813487e6

FS
type: SiteQuality
SIO_000300: 4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 336
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6596
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
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variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48637
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 530
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 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: 16388
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.074e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: -7.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.12e0

QD
type: SiteQuality
SIO_000300: 1.528e1

DP
type: SiteQuality
SIO_000300: 4.811428e6

VQSLOD
type: SiteQuality
SIO_000300: -3.335e-1

GenotypeQuality
all individuals: 139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 6458
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GenotypeQuality
all individuals: 619
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 657
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variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
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: 11566
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.149e0

FS
type: SiteQuality
SIO_000300: 5.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 1.379e1

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.658e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.81039e6

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 6239
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 76
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 87
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.75e1
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GenotypeQuality
all individuals: 150
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 546
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GenotypeQuality
all individuals: 490
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 349
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variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.671441918405481e-4
allele num: 6422
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.200480192076831e-3
allele num: 9996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.670209535378075e-4
allele num: 65860
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.637e0

DP
type: SiteQuality
SIO_000300: 4.814302e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.081e0

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.744e2

MQ
type: SiteQuality
SIO_000300: 5.873e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 1.93519e2

QD
type: SiteQuality
SIO_000300: 7.5e-1

GenotypeQuality
all individuals: 7033
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 9.25e1
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GenotypeQuality
all individuals: 663
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variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.75e1
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GenotypeQuality
all individuals: 580
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GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 538
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48509
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503126503126503e-5
allele num: 66528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.801e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.191e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e0

FS
type: SiteQuality
SIO_000300: 1.917e0

QD
type: SiteQuality
SIO_000300: 1.409e1

VQSLOD
type: SiteQuality
SIO_000300: -2.871e0

MQRankSum
type: SiteQuality
SIO_000300: 2.09e0

DP
type: SiteQuality
SIO_000300: 4.797301e6

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0