12-12419573-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419573
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419573
    reference: chr 12
allele count: 1
allele frequency: 1.297791159446622e-5
allele num: 77054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.55+42G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.55+42G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-5+42G>A
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4511
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

12-12419575-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419575
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419575
    reference: chr 12
allele count: 229
allele frequency: 2.925994071348257e-3
allele num: 78264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-5+40G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.55+40G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.55+40G>A
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15965
  bin: 1.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17622
  bin: 7.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 1.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8059
  bin: 2.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4089
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16854
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5047
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 9.75e1
  variant carriers: 212
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6489
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 9664
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 2
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

12-12419576-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419576
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419576
    reference: chr 12
allele count: 8
allele frequency: 1.017501017501017e-4
allele num: 78624
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-5+39G>C
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.55+39G>C
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.55+39G>C
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17509
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9048
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15422
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 693
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

12-12419576-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419576
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419576
    reference: chr 12
allele count: 1
allele frequency: 1.271876271876272e-5
allele num: 78624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-5+39G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.55+39G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.55+39G>A
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17509
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3809
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4963
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/12-12419582-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419582
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419582
    reference: chr 12
allele count: 1
allele frequency: 1.174729224913657e-5
allele num: 85126
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.55+33G>T
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-5+33G>T
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.55+33G>T
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16934
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19907
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

12-12419593-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419593
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419593
    reference: chr 12
allele count: 1
allele frequency: 1.064577256371495e-5
allele num: 93934
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.55+22G>C
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.55+22G>C
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-5+22G>C
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28430
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13421
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

12-12419597-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419597
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419597
    reference: chr 12
allele count: 1
allele frequency: 1.031927847604895e-5
allele num: 96906
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-5+18A>G
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.55+18A>G
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.55+18A>G
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27046
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31166
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

12-12419598-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419598
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419599
    reference: chr 12
allele count: 2
allele frequency: 2.047921359819783e-5
allele num: 97660
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-5+16dupG
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.55+16dupG
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.55+16dupG
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 440
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

12-12419600-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419600
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419600
    reference: chr 12
allele count: 1
allele frequency: 1.008288128415576e-5
allele num: 99178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-5+15G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.55+15G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.55+15G>A
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

12-12419604-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419604
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419604
    reference: chr 12
allele count: 1
allele frequency: 9.81913159600165e-6
allele num: 101842
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.55+11T>C
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-5+11T>C
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.55+11T>C
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9657
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 34645
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-12419604-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419604
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419604
    reference: chr 12
allele count: 1
allele frequency: 9.81913159600165e-6
allele num: 101842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-5+11T>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.55+11T>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.55+11T>A
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-12419605-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419605
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419605
    reference: chr 12
allele count: 3
allele frequency: 2.920901974529735e-5
allele num: 102708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-5+10G>C
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.55+10G>C
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.55+10G>C
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 503
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genotype quality: GenotypeQuality
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

12-12419612-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419612
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419612
    reference: chr 12
allele count: 1
allele frequency: 9.406098914536185e-6
allele num: 106314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-5+3G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.55+3G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.55+3G>A
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38508
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
hgvs: c.55+3G>A
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

12-12419614-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419614
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419614
    reference: chr 12
allele count: 1
allele frequency: 9.339858781335226e-6
allele num: 107068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.55+1G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.55+1G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-5+1G>A
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
hgvs: c.55+1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-12419622-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419622
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419622
    reference: chr 12
allele count: 5
allele frequency: 4.561045026636503e-5
allele num: 109624
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.48C>T
  hgvsp: ENST00000261349.4:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.48C>T
  hgvsp: ENST00000543091.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34317
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3516
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu16Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

12-12419623-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419623
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419623
    reference: chr 12
allele count: 1
allele frequency: 9.103156974838875e-6
allele num: 109852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-13T>C
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.47T>C
  hgvsp: ENSP00000261349.4:p.Leu16Pro
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.47T>C
  hgvsp: ENSP00000442472.1:p.Leu16Pro
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34410
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 551
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu16Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

12-12419627-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419627
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419627
    reference: chr 12
allele count: 1
allele frequency: 9.02185092293535e-6
allele num: 110842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.43G>A
  hgvsp: ENSP00000261349.4:p.Val15Met
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.43G>A
  hgvsp: ENSP00000442472.1:p.Val15Met
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val15Met
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-12419631-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419631
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419631
    reference: chr 12
allele count: 2
allele frequency: 1.797558914993439e-5
allele num: 111262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-21C>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.39C>A
  hgvsp: ENSP00000442472.1:p.Phe13Leu
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.39C>A
  hgvsp: ENSP00000261349.4:p.Phe13Leu
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe13Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

12-12419640-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419640
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419640
    reference: chr 12
allele count: 1
allele frequency: 8.987956138774043e-6
allele num: 111260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.30C>A
  hgvsp: ENST00000543091.1:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.30C>A
  hgvsp: ENST00000261349.4:c.30C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-30C>A
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9373
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41564
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5723
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala10Ala
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD

12-12419646-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419646
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419646
    reference: chr 12
allele count: 1
allele frequency: 9.044371687498869e-6
allele num: 110566
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.24C>T
  hgvsp: ENST00000261349.4:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.24C>T
  hgvsp: ENST00000543091.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-36C>T
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1000
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu8Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

12-12419648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419648
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419648
    reference: chr 12
allele count: 2
allele frequency: 1.816893475535529e-5
allele num: 110078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.22C>T
  hgvsp: ENSP00000442472.1:p.Leu8Phe
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.22C>T
  hgvsp: ENSP00000261349.4:p.Leu8Phe
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-38C>T
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9620
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39210
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu8Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

12-12419657-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419657
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419657
    reference: chr 12
allele count: 3
allele frequency: 2.750779387493123e-5
allele num: 109060
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.13C>T
  hgvsp: ENST00000261349.4:c.13C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.13C>T
  hgvsp: ENST00000543091.1:c.13C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-47C>T
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8589
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3510
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu5Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

12-12419658-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419658
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419658
    reference: chr 12
allele count: 1
allele frequency: 9.186954524575103e-6
allele num: 108850
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.12C>G
  hgvsp: ENST00000261349.4:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-48C>G
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.12C>G
  hgvsp: ENST00000543091.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8860
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val4Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

12-12419658-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419658
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419658
    reference: chr 12
allele count: 1
allele frequency: 9.186954524575103e-6
allele num: 108850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.12C>A
  hgvsp: ENST00000543091.1:c.12C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.12C>A
  hgvsp: ENST00000261349.4:c.12C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-48C>A
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8860
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val4Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

12-12419662-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419662
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419662
    reference: chr 12
allele count: 1
allele frequency: 9.263204698297423e-6
allele num: 107954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-52C>T
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.8C>T
  hgvsp: ENSP00000442472.1:p.Ala3Val
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.8C>T
  hgvsp: ENSP00000261349.4:p.Ala3Val
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala3Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-12419666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419666
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419666
    reference: chr 12
allele count: 1
allele frequency: 9.325052686547678e-6
allele num: 107238
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.4G>A
  hgvsp: ENSP00000261349.4:p.Gly2Arg
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-56G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.4G>A
  hgvsp: ENSP00000442472.1:p.Gly2Arg
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35263
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly2Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

12-12419674-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419674
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419674
    reference: chr 12
allele count: 1
allele frequency: 9.577443205761789e-6
allele num: 104412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.-5G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.-5G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-64G>A
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

12-12419675-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419675
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419675
    reference: chr 12
allele count: 2
allele frequency: 1.921561845467996e-5
allele num: 104082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-65G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.-6G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15802
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 29413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-12419676-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419676
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419676
    reference: chr 12
allele count: 57
allele frequency: 5.547553237045976e-4
allele num: 102748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-66A>C
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.-7A>C
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.-7A>C
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19859
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12447
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 9.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-12419682-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419682
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419682
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 101330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.-13G>T
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-72G>T
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.-13G>T
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3503
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-12419693-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419693
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419693
    reference: chr 12
allele count: 5
allele frequency: 5.282731806271659e-5
allele num: 94648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.-24G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-83G>A
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 98
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 287
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25425
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

12-12419698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419698
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419698
    reference: chr 12
allele count: 1
allele frequency: 1.115349438979232e-5
allele num: 89658
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.-29G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-88G>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000442472
  ensembl transcript: ENST00000543091
  gene symbol: LRP6
  hgvsc: ENST00000543091.1:c.-29G>A
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

12-12419704-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419704
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419704
    reference: chr 12
allele count: 2
allele frequency: 2.441525465110601e-5
allele num: 81916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-94C>T
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.-35C>T
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12546
  num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

12-12419705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419705
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419705
    reference: chr 12
allele count: 1
allele frequency: 1.221001221001221e-5
allele num: 81900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-95C>T
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.-36C>T
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9082
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

12-12419706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419706
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419706
    reference: chr 12
allele count: 6
allele frequency: 7.392257841953528e-5
allele num: 81166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-96C>T
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.-37C>T
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 5
  allele frequency: 8.635578583765112e-4
  allele num: 5790
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
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site quality: QD

12-12419707-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419707
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419707
    reference: chr 12
allele count: 1
allele frequency: 1.345967481425649e-5
allele num: 74296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-97C>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.-38C>A
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
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  allele frequency: 0.0e0
  allele num: 5154
  num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

12-12419714-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419714
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419714
    reference: chr 12
allele count: 3
allele frequency: 4.367193641366058e-5
allele num: 68694
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.-45C>T
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-104C>T
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  type: Population
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  allele frequency: 0.0e0
  allele num: 2648
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
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12-12419719-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419719
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419719
    reference: chr 12
allele count: 5565
allele frequency: 8.681205540995882e-2
allele num: 64104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-109C>A
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.-50C>A
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 1.75e1
  variant carriers: 1403
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 4891
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.75e1
  variant carriers: 233
genotype quality: GenotypeQuality
  all individuals: 5406
  bin: 1.75e1
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.25e1
  variant carriers: 114
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 2.5e0
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 13032
  bin: 2.25e1
  variant carriers: 121
genotype quality: GenotypeQuality
  all individuals: 3586
  bin: 2.75e1
  variant carriers: 107
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 3.75e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 9.25e1
  variant carriers: 192
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 6.25e1
  variant carriers: 150
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 8.25e1
  variant carriers: 202
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 7.75e1
  variant carriers: 138
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 6.75e1
  variant carriers: 93
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.25e1
  variant carriers: 148
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 4.25e1
  variant carriers: 81
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 4.75e1
  variant carriers: 112
num of homozygotes: 258
population: Other
  type: Population
  allele count: 46
  allele frequency: 8.984375e-2
  allele num: 512
  num of homozygotes: 1
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS

12-12419720-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12419720
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12419720
    reference: chr 12
allele count: 1
allele frequency: 1.663284654535777e-5
allele num: 60122
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000261349
  ensembl transcript: ENST00000261349
  gene symbol: LRP6
  hgvsc: ENST00000261349.4:c.-51C>G
  variant of: http://identifiers.org/hgnc/6698
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000070018
  ensembl protein: ENSP00000439765
  ensembl transcript: ENST00000535731
  gene symbol: LRP6
  hgvsc: ENST00000535731.1:c.-110C>G
  variant of: http://identifiers.org/hgnc/6698
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16627
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5190
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9039
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11693
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9241
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4010
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4748
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2190
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/12-12482912-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12482912
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12482912
    reference: chr 12
allele count: 1
allele frequency: 9.252576842650678e-6
allele num: 108078
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.*49T>G
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.*49T>G
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.*49T>G
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14029
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5836
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6509
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5761
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3485
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-12482916-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12482916
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12482916
    reference: chr 12
allele count: 8
allele frequency: 7.425420928548887e-5
allele num: 107738
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.*45C>G
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.*45C>G
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.*45C>G
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13973
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13768
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13384
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 536
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-12482919-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12482919
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12482919
    reference: chr 12
allele count: 1
allele frequency: 9.260116677470136e-6
allele num: 107990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.*42G>A
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.*42G>A
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.*42G>A
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15464
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4002
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

12-12482924-G-GCAAAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12482924
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12482929
    reference: chr 12
allele count: 1
allele frequency: 9.222029584270906e-6
allele num: 108436
alternate allele: GCAAAT
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.*36_*37insATTTG
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.*36_*37insATTTG
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.*36_*37insATTTG
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12851
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5487
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5718
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ

12-12482924-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12482924
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12482924
    reference: chr 12
allele count: 8
allele frequency: 7.377623667416725e-5
allele num: 108436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.*37C>A
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.*37C>A
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.*37C>A
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12851
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7992
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19602
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5718
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5487
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

12-12482925-G-GCAATTTGCATTTGCATTTAGTAATTCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12482925
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12482952
    reference: chr 12
allele count: 1
allele frequency: 9.208611893843122e-6
allele num: 108594
alternate allele: GCAATTTGCATTTGCATTTAGTAATTCA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12617
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6495
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5316
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17526
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5648
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

12-12482934-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12482934
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12482934
    reference: chr 12
allele count: 1
allele frequency: 9.091735612328394e-6
allele num: 109990
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.*27A>G
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.*27A>G
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.*27A>G
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

12-12482946-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12482946
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12482946
    reference: chr 12
allele count: 1
allele frequency: 8.793682618406936e-6
allele num: 113718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.*15G>A
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.*15G>A
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.*15G>A
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6063
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

12-12482948-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12482948
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12482948
    reference: chr 12
allele count: 4
allele frequency: 3.48839237437427e-5
allele num: 114666
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.*13G>A
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.*13G>A
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.*13G>A
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10273
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3629
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

12-12482949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12482949
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12482949
    reference: chr 12
allele count: 2
allele frequency: 1.736683975616957e-5
allele num: 115162
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.*12G>A
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.*12G>A
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10586
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-12482950-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12482950
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12482950
    reference: chr 12
allele count: 18
allele frequency: 1.550280773073346e-4
allele num: 116108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.*11C>T
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.*11C>T
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.*11C>T
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10851
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35428
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-12482957-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12482957
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12482957
    reference: chr 12
allele count: 2
allele frequency: 1.691646648847989e-5
allele num: 118228
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.*4T>G
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.*4T>G
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.*4T>G
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35931
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

12-12482965-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12482965
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12482965
    reference: chr 12
allele count: 1
allele frequency: 8.362742310458446e-6
allele num: 119578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1190T>C
  hgvsp: ENSP00000379638.3:p.Ile397Thr
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1292T>C
  hgvsp: ENSP00000438205.1:p.Ile431Thr
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.1049T>C
  hgvsp: ENSP00000445303.1:p.Ile350Thr
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile431Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-12482967-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12482967
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12482967
    reference: chr 12
allele count: 1
allele frequency: 8.348220994106157e-6
allele num: 119786
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1290C>A
  hgvsp: ENSP00000438205.1:p.Asp430Glu
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.1047C>A
  hgvsp: ENSP00000445303.1:p.Asp349Glu
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1188C>A
  hgvsp: ENSP00000379638.3:p.Asp396Glu
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36675
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7248
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 940
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp430Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

12-12482968-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12482968
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12482968
    reference: chr 12
allele count: 2
allele frequency: 1.668752607425949e-5
allele num: 119850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1187A>G
  hgvsp: ENSP00000379638.3:p.Asp396Gly
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.1046A>G
  hgvsp: ENSP00000445303.1:p.Asp349Gly
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1289A>G
  hgvsp: ENSP00000438205.1:p.Asp430Gly
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11885
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36487
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7260
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp430Gly
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

12-12482969-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12482969
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12482969
    reference: chr 12
allele count: 3
allele frequency: 2.501208917643528e-5
allele num: 119942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1186G>A
  hgvsp: ENSP00000379638.3:p.Asp396Asn
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.1045G>A
  hgvsp: ENSP00000445303.1:p.Asp349Asn
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1288G>A
  hgvsp: ENSP00000438205.1:p.Asp430Asn
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11957
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp430Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

12-12482982-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12482982
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12482982
    reference: chr 12
allele count: 1
allele frequency: 8.279790686891435e-6
allele num: 120776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.1032T>C
  hgvsp: ENST00000545735.1:c.1032T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1275T>C
  hgvsp: ENST00000535902.1:c.1275T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1173T>C
  hgvsp: ENST00000396349.3:c.1173T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36776
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn425Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

12-12482985-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12482985
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12482985
    reference: chr 12
allele count: 1
allele frequency: 8.273077750384698e-6
allele num: 120874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1170C>A
  hgvsp: ENST00000396349.3:c.1170C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1272C>A
  hgvsp: ENST00000535902.1:c.1272C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.1029C>A
  hgvsp: ENST00000545735.1:c.1029C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7450
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile424Ile
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ

12-12482997-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12482997
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12482997
    reference: chr 12
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1158G>A
  hgvsp: ENST00000396349.3:c.1158G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.1017G>A
  hgvsp: ENST00000545735.1:c.1017G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1260G>A
  hgvsp: ENST00000535902.1:c.1260G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3898
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 7518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3654
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu420Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

12-12483001-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12483001
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12483001
    reference: chr 12
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.1013G>C
  hgvsp: ENSP00000445303.1:p.Arg338Thr
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1256G>C
  hgvsp: ENSP00000438205.1:p.Arg419Thr
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1154G>C
  hgvsp: ENSP00000379638.3:p.Arg385Thr
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3660
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3913
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg419Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

12-12483003-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12483003
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12483003
    reference: chr 12
allele count: 4
allele frequency: 3.303328103063837e-5
allele num: 121090
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1254A>G
  hgvsp: ENST00000535902.1:c.1254A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.1011A>G
  hgvsp: ENST00000545735.1:c.1011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1152A>G
  hgvsp: ENST00000396349.3:c.1152A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3665
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36625
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser418Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

12-12483010-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12483010
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12483010
    reference: chr 12
allele count: 9
allele frequency: 7.431629013079666e-5
allele num: 121104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.1004G>A
  hgvsp: ENSP00000445303.1:p.Arg335His
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1247G>A
  hgvsp: ENSP00000438205.1:p.Arg416His
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1145G>A
  hgvsp: ENSP00000379638.3:p.Arg382His
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3682
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg416His
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

12-12483011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12483011
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12483011
    reference: chr 12
allele count: 2
allele frequency: 1.651364026686043e-5
allele num: 121112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1144C>T
  hgvsp: ENSP00000379638.3:p.Arg382Cys
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1246C>T
  hgvsp: ENSP00000438205.1:p.Arg416Cys
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.1003C>T
  hgvsp: ENSP00000445303.1:p.Arg335Cys
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3683
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2820
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg416Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD

12-12483017-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12483017
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12483017
    reference: chr 12
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.997A>G
  hgvsp: ENSP00000445303.1:p.Arg333Gly
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1240A>G
  hgvsp: ENSP00000438205.1:p.Arg414Gly
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1138A>G
  hgvsp: ENSP00000379638.3:p.Arg380Gly
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3934
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg414Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-12483019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12483019
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12483019
    reference: chr 12
allele count: 172
allele frequency: 1.419844807660558e-3
allele num: 121140
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1238G>A
  hgvsp: ENSP00000438205.1:p.Arg413His
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1136G>A
  hgvsp: ENSP00000379638.3:p.Arg379His
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.995G>A
  hgvsp: ENSP00000445303.1:p.Arg332His
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12507
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 36942
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3919
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3854
  bin: 9.75e1
  variant carriers: 171
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg413His
num of homozygotes: 1
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

12-12483020-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12483020
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12483020
    reference: chr 12
allele count: 4
allele frequency: 3.301746623964077e-5
allele num: 121148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.994C>T
  hgvsp: ENSP00000445303.1:p.Arg332Cys
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1237C>T
  hgvsp: ENSP00000438205.1:p.Arg413Cys
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1135C>T
  hgvsp: ENSP00000379638.3:p.Arg379Cys
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7559
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3809
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36456
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg413Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

12-12483030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12483030
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12483030
    reference: chr 12
allele count: 713
allele frequency: 5.885849196783833e-3
allele num: 121138
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1227G>A
  hgvsp: ENST00000535902.1:c.1227G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.984G>A
  hgvsp: ENST00000545735.1:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1125G>A
  hgvsp: ENST00000396349.3:c.1125G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36422
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 3.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 12415
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4470
  bin: 9.75e1
  variant carriers: 711
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35945
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser409Ser
num of homozygotes: 2
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

12-12483031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12483031
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12483031
    reference: chr 12
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1226C>T
  hgvsp: ENSP00000438205.1:p.Ser409Leu
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.983C>T
  hgvsp: ENSP00000445303.1:p.Ser328Leu
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1124C>T
  hgvsp: ENSP00000379638.3:p.Ser375Leu
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4343
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser409Leu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

12-12483033-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12483033
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12483033
    reference: chr 12
allele count: 911
allele frequency: 7.520348693225908e-3
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1224C>T
  hgvsp: ENST00000535902.1:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1122C>T
  hgvsp: ENST00000396349.3:c.1122C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.981C>T
  hgvsp: ENST00000545735.1:c.981C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 12246
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 3.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 35891
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7400
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5174
  bin: 9.75e1
  variant carriers: 901
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu408Leu
num of homozygotes: 8
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

12-12483036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12483036
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12483036
    reference: chr 12
allele count: 4
allele frequency: 3.301746623964077e-5
allele num: 121148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.978C>T
  hgvsp: ENST00000545735.1:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1221C>T
  hgvsp: ENST00000535902.1:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1119C>T
  hgvsp: ENST00000396349.3:c.1119C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3856
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7431
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5014
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile407Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

12-12483036-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12483036
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12483036
    reference: chr 12
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1119C>A
  hgvsp: ENST00000396349.3:c.1119C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1221C>A
  hgvsp: ENST00000535902.1:c.1221C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.978C>A
  hgvsp: ENST00000545735.1:c.978C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5014
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3856
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile407Ile
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/12-12483045-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12483045
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12483045
    reference: chr 12
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1110G>T
  hgvsp: ENST00000396349.3:c.1110G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1212G>T
  hgvsp: ENST00000535902.1:c.1212G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.969G>T
  hgvsp: ENST00000545735.1:c.969G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5014
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3856
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu404Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

12-12483053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12483053
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12483053
    reference: chr 12
allele count: 4
allele frequency: 3.302400845414616e-5
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.961G>A
  hgvsp: ENSP00000445303.1:p.Val321Ile
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1102G>A
  hgvsp: ENSP00000379638.3:p.Val368Ile
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1204G>A
  hgvsp: ENSP00000438205.1:p.Val402Ile
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35302
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7450
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val402Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-12483054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12483054
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12483054
    reference: chr 12
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.960C>T
  hgvsp: ENST00000545735.1:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1101C>T
  hgvsp: ENST00000396349.3:c.1101C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1203C>T
  hgvsp: ENST00000535902.1:c.1203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3868
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5024
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu401Leu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-12483066-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12483066
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12483066
    reference: chr 12
allele count: 1
allele frequency: 8.255729476256522e-6
allele num: 121128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1089G>C
  hgvsp: ENST00000396349.3:c.1089G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.948G>C
  hgvsp: ENST00000545735.1:c.948G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1191G>C
  hgvsp: ENST00000535902.1:c.1191G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5029
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3881
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu397Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

12-12483071-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12483071
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12483071
    reference: chr 12
allele count: 4
allele frequency: 3.302128221638846e-5
allele num: 121134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1084T>C
  hgvsp: ENSP00000379638.3:p.Phe362Leu
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.943T>C
  hgvsp: ENSP00000445303.1:p.Phe315Leu
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1186T>C
  hgvsp: ENSP00000438205.1:p.Phe396Leu
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7475
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3887
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5037
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Phe396Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-12483079-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 12483079
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 12483079
    reference: chr 12
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000445303
  ensembl transcript: ENST00000545735
  gene symbol: MANSC1
  hgvsc: ENST00000545735.1:c.935G>T
  hgvsp: ENSP00000445303.1:p.Gly312Val
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000379638
  ensembl transcript: ENST00000396349
  gene symbol: MANSC1
  hgvsc: ENST00000396349.3:c.1076G>T
  hgvsp: ENSP00000379638.3:p.Gly359Val
  variant of: http://identifiers.org/hgnc/25505
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111261
  ensembl protein: ENSP00000438205
  ensembl transcript: ENST00000535902
  gene symbol: MANSC1
  hgvsc: ENST00000535902.1:c.1178G>T
  hgvsp: ENSP00000438205.1:p.Gly393Val
  variant of: http://identifiers.org/hgnc/25505
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3885
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly393Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum

GenotypeQuality
all individuals: 6758
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.561524047470331e-4
allele num: 6404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39666
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.963e1

FS
type: SiteQuality
SIO_000300: 9.624000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.845e1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.575e0

DP
type: SiteQuality
SIO_000300: 1.054618e6

GenotypeQuality
all individuals: 558
bin: 9.25e1
variant carriers: 6

Latino
type: Population
allele count: 1
allele frequency: 1.117068811438785e-4
allele num: 8952
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 9.601536245799327e-4
allele num: 12498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 183
allele frequency: 4.524774997527446e-3
allele num: 40444
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 31
allele frequency: 8.985507246376812e-3
allele num: 3450
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.09981401115933e-4
allele num: 6452
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.712e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.077829e6

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

GenotypeQuality
all individuals: 1200
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.96743888642959e-4
allele num: 40662
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8944
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5956
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

DP
type: SiteQuality
SIO_000300: 1.092731e6

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.349e1

FS
type: SiteQuality
SIO_000300: 1.518e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

GenotypeQuality
all individuals: 693
bin: 8.25e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.542257865515114e-4
allele num: 6484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40662
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5956
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.092731e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

FS
type: SiteQuality
SIO_000300: 1.518e0

QD
type: SiteQuality
SIO_000300: 1.349e1

GenotypeQuality
all individuals: 865
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6972
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.547987616099071e-4
allele num: 6460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

FS
type: SiteQuality
SIO_000300: 3.52e0

DP
type: SiteQuality
SIO_000300: 1.202289e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.559e1

GenotypeQuality
all individuals: 859
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7756
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.997762505993287e-5
allele num: 50056
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.286e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

MQ
type: SiteQuality
SIO_000300: 5.742e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 3.84e0

QD
type: SiteQuality
SIO_000300: 1.444e1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

DP
type: SiteQuality
SIO_000300: 1.318822e6

GenotypeQuality
all individuals: 3104
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4496
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8004
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51982
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10456
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.256894049346879e-5
allele num: 13780
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.353814e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.703e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 5.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

GenotypeQuality
all individuals: 31857
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52478
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.237930180737806e-4
allele num: 8078
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.392757660167131e-3
allele num: 718
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13830
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 1.567e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.31e-1

MQ
type: SiteQuality
SIO_000300: 5.885e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.629e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

QD
type: SiteQuality
SIO_000300: 1.265e1

DP
type: SiteQuality
SIO_000300: 1.363608e6

GenotypeQuality
all individuals: 555
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10600
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8198
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.869368527311474e-5
allele num: 53494
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13944
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7602
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.379652e6

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.72e-1

GenotypeQuality
all individuals: 3512
bin: 9.75e1
variant carriers: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7782
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Finnish)
type: Population
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allele frequency: 0.0e0
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South Asian
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Latino
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European (Non-Finnish)
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DP
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QD
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FS
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 1.184834123222749e-4
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South Asian
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Latino
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East Asian
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Other
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DP
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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FS
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

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

East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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Latino
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European (Non-Finnish)
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MQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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DP
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MQ
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Other
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European (Finnish)
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South Asian
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East Asian
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Latino
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DP
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ReadPosRankSum
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MQ
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FS
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QD
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 9.085953116481919e-5
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 4.329941545789132e-4
allele num: 9238
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Other
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East Asian
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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QD
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FS
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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DP
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SIO_000300: 1.492229e6

GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 6.675567423230975e-5
allele num: 14980
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East Asian
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Other
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allele frequency: 0.0e0
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European (Finnish)
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QD
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQ
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BaseQRankSum
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GenotypeQuality
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Latino
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Other
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South Asian
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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DP
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QD
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MQ
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FS
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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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ClippingRankSum
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
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South Asian
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African
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Latino
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European (Finnish)
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Other
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European (Non-Finnish)
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MQ
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BaseQRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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ClippingRankSum
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FS
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InbreedingCoeff
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DP
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

Latino
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South Asian
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Other
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InbreedingCoeff
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DP
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VQSLOD
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FS
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ReadPosRankSum
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MQ
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BaseQRankSum
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MQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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African
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Other
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European (Finnish)
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DP
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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European (Finnish)
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East Asian
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Other
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South Asian
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African
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European (Non-Finnish)
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Latino
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MQRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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MQ
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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DP
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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South Asian
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.423e0

DP
type: SiteQuality
SIO_000300: 1.465524e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.672968180145214e-5
allele num: 59774
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5096
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10946
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
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QD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 1.465524e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9098
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5036
num of homozygotes: 0

Latino
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allele frequency: 9.170946441672781e-5
allele num: 10904
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59204
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Other
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allele frequency: 0.0e0
allele num: 782
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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QD
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DP
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 10862
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8040
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5006
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.701085292416562e-5
allele num: 58786
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
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MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.434146e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-2

VQSLOD
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InbreedingCoeff
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MQ
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.79e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8758
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4840
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.753217153476629e-5
allele num: 57038
num of homozygotes: 0

MQ
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.061e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4814
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8730
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56820
num of homozygotes: 0

Latino
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allele frequency: 1.866368047779022e-4
allele num: 10716
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South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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DP
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 1.397428731134712e-4
allele num: 14312
num of homozygotes: 0

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

Latino
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allele count: 13
allele frequency: 1.221115912079654e-3
allele num: 10646
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7698
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European (Non-Finnish)
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allele count: 42
allele frequency: 7.501339524915164e-4
allele num: 55990
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 14172
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10560
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55172
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Other
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allele count: 0
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East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8418
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: 0.0e0

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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QD
type: SiteQuality
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DP
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InbreedingCoeff
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SIO_000300: -3.9e-3

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

East Asian
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allele frequency: 0.0e0
allele num: 6970
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4334
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South Asian
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allele count: 0
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
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European (Non-Finnish)
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allele frequency: 9.751911374629427e-5
allele num: 51272
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BaseQRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.070822116380203e-5
allele num: 48290
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Latino
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allele count: 2
allele frequency: 2.191540653079115e-4
allele num: 9126
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43670
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 616
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MQRankSum
type: SiteQuality
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DP
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MQ
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.49e-2

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3572
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.288958066288226e-5
allele num: 43688
num of homozygotes: 0

East Asian
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South Asian
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allele count: 0
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African
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
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FS
type: SiteQuality
SIO_000300: 2.741e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

South Asian
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num of homozygotes: 0

African
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allele num: 6420
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Latino
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allele count: 1
allele frequency: 1.106439477760567e-4
allele num: 9038
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3528
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43262
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
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ClippingRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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FS
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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Other
type: Population
allele count: 0
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African
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allele count: 0
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
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South Asian
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allele frequency: 8.315316813570597e-5
allele num: 12026
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MQRankSum
type: SiteQuality
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VQSLOD
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
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ClippingRankSum
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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East Asian
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African
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South Asian
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 540
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European (Non-Finnish)
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allele frequency: 8.274036074797286e-5
allele num: 36258
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Latino
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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QD
type: SiteQuality
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DP
type: SiteQuality
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African
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allele count: 200
allele frequency: 4.214075010535188e-2
allele num: 4746
num of homozygotes: 3

Latino
type: Population
allele count: 1110
allele frequency: 1.569126378286683e-1
allele num: 7074
num of homozygotes: 54

South Asian
type: Population
allele count: 505
allele frequency: 4.357204486626402e-2
allele num: 11590
num of homozygotes: 15

East Asian
type: Population
allele count: 7
allele frequency: 1.664289110794104e-3
allele num: 4206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 268
allele frequency: 1.112956810631229e-1
allele num: 2408
num of homozygotes: 12

European (Non-Finnish)
type: Population
allele count: 3429
allele frequency: 1.021508579599619e-1
allele num: 33568
num of homozygotes: 173

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.44756e5

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.122e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 1.553e1

FS
type: SiteQuality
SIO_000300: 0.0e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.194684045747875e-5
allele num: 31302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3844
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4328
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.34e-2

DP
type: SiteQuality
SIO_000300: 9.44644e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.764e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.191e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.209e1

GenotypeQuality
all individuals: 3272
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.632226683641824e-5
allele num: 61266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7700
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MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 5.843e1

VQSLOD
type: SiteQuality
SIO_000300: -6.794e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 1.180295e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61076
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7672
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.746337702390131e-4
allele num: 10376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
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South Asian
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allele count: 1
allele frequency: 8.259002312520647e-5
allele num: 12108
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.107e0

DP
type: SiteQuality
SIO_000300: 1.189397e6

VQSLOD
type: SiteQuality
SIO_000300: 6.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

QD
type: SiteQuality
SIO_000300: 1.521e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.582e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12106
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.632279968660225e-5
allele num: 61264
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

DP
type: SiteQuality
SIO_000300: 1.201472e6

VQSLOD
type: SiteQuality
SIO_000300: 4.32e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.24e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

GenotypeQuality
all individuals: 864
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7720
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12260
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Other
type: Population
allele count: 1
allele frequency: 1.21654501216545e-3
allele num: 822
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

DP
type: SiteQuality
SIO_000300: 1.232994e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
SIO_000300: 1.269e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.264e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1473
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.765942901787168e-5
allele num: 61438
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.631321370309951e-4
allele num: 12260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10432
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.232994e6

VQSLOD
type: SiteQuality
SIO_000300: 5.33e0

QD
type: SiteQuality
SIO_000300: 1.269e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.264e0

Other
type: Population
allele count: 1
allele frequency: 1.210653753026634e-3
allele num: 826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12278
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: -3.204e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

VQSLOD
type: SiteQuality
SIO_000300: -6.223e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.712e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.238848e6

GenotypeQuality
all individuals: 3319
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.609476598210262e-5
allele num: 62132
num of homozygotes: 0

African
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allele count: 0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

DP
type: SiteQuality
SIO_000300: 1.312027e6

FS
type: SiteQuality
SIO_000300: 1.961e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: -4.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

QD
type: SiteQuality
SIO_000300: 1.04e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63866
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6306
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 1.001602564102564e-4
allele num: 9984
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
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Other
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allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 2.97e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

DP
type: SiteQuality
SIO_000300: 1.419754e6

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64236
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 2.87686996547756e-4
allele num: 13904
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10046
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11060
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

DP
type: SiteQuality
SIO_000300: 1.438043e6

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.709e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.20889748549323e-4
allele num: 8272
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African
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allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14110
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.87e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele frequency: 1.48544266191325e-3
allele num: 10098
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.08842150776738e-5
allele num: 64758
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.903216899074968e-5
allele num: 14486
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

DP
type: SiteQuality
SIO_000300: 1.466456e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.66e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
type: Population
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num of homozygotes: 0

South Asian
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East Asian
type: Population
allele count: 2
allele frequency: 2.350176263219741e-4
allele num: 8510
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65524
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6482
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.691000000000001e0

VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.514830187535977e-5
allele num: 66014
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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QD
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MQ
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6544
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.513042425709617e-5
allele num: 66092
num of homozygotes: 0

MQ
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VQSLOD
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QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.524755e6

GenotypeQuality
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variant carriers: 2

Other
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.708737864077671e-5
allele num: 10300
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European (Non-Finnish)
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allele frequency: 1.512493193780628e-5
allele num: 66116
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VQSLOD
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.53e-1

InbreedingCoeff
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SIO_000300: 1.12e-2

ClippingRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
SIO_000300: 1.525825e6

GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.535695926945057e-5
allele num: 66142
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

Latino
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East Asian
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Other
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South Asian
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FS
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.09e-2

MQ
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.528086e6

QD
type: SiteQuality
SIO_000300: 1.021e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

Other
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East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.505072092953252e-5
allele num: 66442
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Latino
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South Asian
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FS
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MQ
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ClippingRankSum
type: SiteQuality
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: 1.38e-2

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.544218e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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allele frequency: 6.087909411907951e-5
allele num: 16426
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8626
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.14e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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South Asian
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Other
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.11e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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African
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Latino
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allele frequency: 8.686587908269631e-5
allele num: 11512
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East Asian
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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 frequency: 0.0e0
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ClippingRankSum
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MQ
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QD
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.55034e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.506669871409686e-5
allele num: 66568
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African
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Latino
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Other
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East Asian
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South Asian
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allele num: 16478
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European (Finnish)
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num of homozygotes: 0

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

African
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allele num: 10354
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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allele frequency: 1.201525937941185e-4
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Other
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European (Finnish)
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ClippingRankSum
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FS
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MQ
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InbreedingCoeff
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QD
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MQRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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European (Finnish)
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African
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Latino
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South Asian
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European (Non-Finnish)
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allele num: 66588
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Other
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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DP
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MQ
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Finnish)
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allele num: 6612
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Other
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African
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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allele frequency: 4.804804804804805e-4
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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DP
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MQRankSum
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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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East Asian
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European (Finnish)
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African
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Other
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Latino
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QD
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ReadPosRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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DP
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FS
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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South Asian
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European (Finnish)
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allele frequency: 9.37405503477472e-3
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Other
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European (Non-Finnish)
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allele frequency: 8.305049109422402e-3
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Latino
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allele frequency: 2.165252035336913e-3
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African
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East Asian
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ReadPosRankSum
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VQSLOD
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FS
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DP
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MQRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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Other
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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ReadPosRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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ClippingRankSum
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QD
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MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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African
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allele frequency: 2.029769959404601e-3
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European (Finnish)
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allele frequency: 1.375869368007257e-2
allele num: 6614
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South Asian
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allele frequency: 1.152073732718894e-3
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Latino
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allele frequency: 2.512127512127512e-3
allele num: 11544
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East Asian
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allele frequency: 1.156604210039325e-4
allele num: 8646
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Other
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QD
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
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MQ
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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DP
type: SiteQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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Other
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South Asian
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East Asian
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European (Non-Finnish)
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VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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MQRankSum
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FS
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DP
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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Other
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African
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East Asian
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Latino
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allele frequency: 0.0e0
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South Asian
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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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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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FS
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DP
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GenotypeQuality
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African
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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FS
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66594
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East Asian
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African
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Latino
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allele frequency: 8.665511265164645e-5
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
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MQRankSum
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QD
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DP
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FS
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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South Asian
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Other
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 66594
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African
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MQRankSum
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ClippingRankSum
type: SiteQuality
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FS
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VQSLOD
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ReadPosRankSum
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QD
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DP
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MQ
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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African
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Latino
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Other
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QD
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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European (Finnish)
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African
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South Asian
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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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QD
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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African
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South Asian
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Other
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ReadPosRankSum
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