12-53777034-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777034
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777034
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1303C>T
  hgvsp: ENSP00000329357.4:p.Leu435Phe
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1282C>T
  hgvsp: ENSP00000404263.2:p.Leu428Phe
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7636
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4709
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu435Phe
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

12-53777036-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777036
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777036
    reference: chr 12
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1305C>G
  hgvsp: ENST00000327443.4:c.1305C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1284C>G
  hgvsp: ENST00000426431.2:c.1284C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24779
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu435Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

12-53777055-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777055
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777055
    reference: chr 12
allele count: 5
allele frequency: 4.118751853438334e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1303G>A
  hgvsp: ENSP00000404263.2:p.Ala435Thr
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1324G>A
  hgvsp: ENSP00000329357.4:p.Ala442Thr
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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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
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  variant carriers: 5
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: 3.25e1
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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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  bin: 5.75e1
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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
  all individuals: 29
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala442Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 4
  allele frequency: 3.454828122300915e-4
  allele num: 11578
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

12-53777058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777058
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777058
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1327G>A
  hgvsp: ENSP00000329357.4:p.Val443Ile
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1306G>A
  hgvsp: ENSP00000404263.2:p.Val436Ile
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
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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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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2091
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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: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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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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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7639
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val443Ile
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498576352465158e-5
  allele num: 66730
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum

12-53777071-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777071
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777071
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1319G>T
  hgvsp: ENSP00000404263.2:p.Gly440Val
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1340G>T
  hgvsp: ENSP00000329357.4:p.Gly447Val
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5451
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4708
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7640
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly447Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498576352465158e-5
  allele num: 66730
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-53777078-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777078
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777078
    reference: chr 12
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1326C>G
  hgvsp: ENSP00000404263.2:p.Ile442Met
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1347C>G
  hgvsp: ENSP00000329357.4:p.Ile449Met
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 9.25e1
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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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  bin: 7.5e0
  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
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5454
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24783
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile449Met
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-53777087-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777087
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777087
    reference: chr 12
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1335G>T
  hgvsp: ENST00000426431.2:c.1335G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1356G>T
  hgvsp: ENST00000327443.4:c.1356G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16239
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  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: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24800
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5452
  bin: 7.75e1
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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
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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: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4707
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg452Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 2.996973057212216e-5
  allele num: 66734
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-53777099-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777099
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777099
    reference: chr 12
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1368G>A
  hgvsp: ENST00000327443.4:c.1368G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1347G>A
  hgvsp: ENST00000426431.2:c.1347G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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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
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7646
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4709
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val456Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS

12-53777101-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777101
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777101
    reference: chr 12
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1349G>A
  hgvsp: ENSP00000404263.2:p.Gly450Glu
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1370G>A
  hgvsp: ENSP00000329357.4:p.Gly457Glu
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 1
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: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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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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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4712
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly457Glu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66736
  num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

12-53777117-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777117
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777117
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1365C>T
  hgvsp: ENST00000426431.2:c.1365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1386C>T
  hgvsp: ENST00000327443.4:c.1386C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  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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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
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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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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: 18
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4719
  bin: 7.25e1
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genotype quality: GenotypeQuality
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val462Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ

12-53777132-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777132
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777132
    reference: chr 12
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1401A>G
  hgvsp: ENST00000327443.4:c.1401A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1380A>G
  hgvsp: ENST00000426431.2:c.1380A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18847
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7650
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4205
  bin: 8.25e1
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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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  bin: 5.25e1
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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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  bin: 3.25e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5458
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  variant carriers: 0
hgvs: p.Leu467Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10400
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

12-53777135-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777135
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777135
    reference: chr 12
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1404G>A
  hgvsp: ENST00000327443.4:c.1404G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1383G>A
  hgvsp: ENST00000426431.2:c.1383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
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
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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: 4717
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genotype quality: GenotypeQuality
  all individuals: 4205
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln468Gln
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

12-53777140-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777140
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777140
    reference: chr 12
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1388A>G
  hgvsp: ENSP00000404263.2:p.Gln463Arg
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1409A>G
  hgvsp: ENSP00000329357.4:p.Gln470Arg
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4205
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 5462
  bin: 7.75e1
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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: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7652
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4718
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln470Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498441620714457e-5
  allele num: 66736
  num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-53777150-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777150
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777150
    reference: chr 12
allele count: 4
allele frequency: 3.29489291598023e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1419A>G
  hgvsp: ENST00000327443.4:c.1419A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1398A>G
  hgvsp: ENST00000426431.2:c.1398A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16248
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
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genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 514
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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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
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  bin: 8.25e1
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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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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 9.25e1
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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
  all individuals: 7658
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  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln473Gln
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66736
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

12-53777159-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777159
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777159
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1428C>G
  hgvsp: ENSP00000329357.4:p.Asn476Lys
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1407C>G
  hgvsp: ENSP00000404263.2:p.Asn469Lys
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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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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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
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn476Lys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11576
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

12-53777159-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777159
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777159
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1428C>T
  hgvsp: ENST00000327443.4:c.1428C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1407C>T
  hgvsp: ENST00000426431.2:c.1407C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  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: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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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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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn476Asn
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66734
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

12-53777162-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777162
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777162
    reference: chr 12
allele count: 5
allele frequency: 4.11868399808893e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1410A>G
  hgvsp: ENST00000426431.2:c.1410A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1431A>G
  hgvsp: ENST00000327443.4:c.1431A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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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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  variant carriers: 0
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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: 4.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
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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: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24804
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro477Pro
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/12-53777168-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777168
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777168
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1437C>A
  hgvsp: ENST00000327443.4:c.1437C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1416C>A
  hgvsp: ENST00000426431.2:c.1416C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
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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
  all individuals: 106
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1446
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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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  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
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
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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: 2097
  bin: 8.75e1
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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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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala479Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

12-53777171-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777171
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777171
    reference: chr 12
allele count: 21008
allele frequency: 1.731105178153532e-1
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1440A>G
  hgvsp: ENST00000327443.4:c.1440A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1419A>G
  hgvsp: ENST00000426431.2:c.1419A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11507
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 8.75e1
  variant carriers: 752
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 604
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  variant carriers: 532
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 58
genotype depth: GenotypeDepth
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  variant carriers: 220
genotype depth: GenotypeDepth
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  variant carriers: 7
genotype depth: GenotypeDepth
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  variant carriers: 33
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 73
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 438
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 357
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 14481
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 282
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 9.25e1
  variant carriers: 874
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6221
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1545
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  variant carriers: 3
hgvs: p.Gln480Gln
num of homozygotes: 1821
population: East Asian
  type: Population
  allele count: 1721
  allele frequency: 1.995593692022263e-1
  allele num: 8624
  num of homozygotes: 171
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

http://identifiers.org/exac.variant/12-53777188-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777188
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777188
    reference: chr 12
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1436C>A
  hgvsp: ENSP00000404263.2:p.Pro479Gln
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1457C>A
  hgvsp: ENSP00000329357.4:p.Pro486Gln
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
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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 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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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  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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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: 5
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genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro486Gln
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

12-53777189-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777189
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777189
    reference: chr 12
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1437A>G
  hgvsp: ENST00000426431.2:c.1437A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1458A>G
  hgvsp: ENST00000327443.4:c.1458A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 486
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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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  bin: 8.25e1
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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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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro486Pro
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66726
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

12-53777190-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777190
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777190
    reference: chr 12
allele count: 7
allele frequency: 5.766062602965403e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1459A>G
  hgvsp: ENSP00000329357.4:p.Met487Val
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1438A>G
  hgvsp: ENSP00000404263.2:p.Met480Val
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4946
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11760
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Met487Val
num of homozygotes: 1
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

12-53777195-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777195
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777195
    reference: chr 12
allele count: 4
allele frequency: 3.295001482750667e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1443G>A
  hgvsp: ENST00000426431.2:c.1443G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1464G>A
  hgvsp: ENST00000327443.4:c.1464G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3811
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11753
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln488Gln
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66726
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

12-53777197-G-GTGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777197
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777200
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: GTGT
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1447_1449dupGTT
  hgvsp: ENSP00000404263.2:p.Val483dup
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1468_1470dupGTT
  hgvsp: ENSP00000329357.4:p.Val490dup
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23052
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11749
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4946
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val490dup
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

12-53777215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777215
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777215
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1484C>T
  hgvsp: ENSP00000329357.4:p.Thr495Ile
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1463C>T
  hgvsp: ENSP00000404263.2:p.Thr488Ile
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4944
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3814
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11746
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr495Ile
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11576
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-53777221-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777221
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777221
    reference: chr 12
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1469G>A
  hgvsp: ENSP00000404263.2:p.Ser490Asn
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1490G>A
  hgvsp: ENSP00000329357.4:p.Ser497Asn
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4943
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11744
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser497Asn
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498756032493031e-5
  allele num: 66722
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

12-53777224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777224
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777224
    reference: chr 12
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1472G>A
  hgvsp: ENSP00000404263.2:p.Ser491Asn
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1493G>A
  hgvsp: ENSP00000329357.4:p.Ser498Asn
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4944
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8100
  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11744
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3814
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
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genotype quality: GenotypeQuality
  all individuals: 23058
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4108
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser498Asn
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

12-53777228-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777228
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777228
    reference: chr 12
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1476C>T
  hgvsp: ENST00000426431.2:c.1476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1497C>T
  hgvsp: ENST00000327443.4:c.1497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4107
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11744
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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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: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
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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: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23050
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn499Asn
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

12-53777229-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777229
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777229
    reference: chr 12
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1498A>G
  hgvsp: ENSP00000329357.4:p.Thr500Ala
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1477A>G
  hgvsp: ENSP00000404263.2:p.Thr493Ala
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12286
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 4944
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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: 11744
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8098
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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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: 23055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr500Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10396
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

12-53777237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777237
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777237
    reference: chr 12
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1506C>T
  hgvsp: ENST00000327443.4:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1485C>T
  hgvsp: ENST00000426431.2:c.1485C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 9.25e1
  variant carriers: 0
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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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23053
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu502Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10396
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-53777241-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777241
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777241
    reference: chr 12
allele count: 4
allele frequency: 3.295598727898891e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1489C>T
  hgvsp: ENSP00000404263.2:p.Pro497Ser
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1510C>T
  hgvsp: ENSP00000329357.4:p.Pro504Ser
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  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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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: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11746
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  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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genotype quality: GenotypeQuality
  all individuals: 23045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro504Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

12-53777243-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777243
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777243
    reference: chr 12
allele count: 6
allele frequency: 4.943561011782154e-5
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1512C>G
  hgvsp: ENST00000327443.4:c.1512C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1491C>G
  hgvsp: ENST00000426431.2:c.1491C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 4.75e1
  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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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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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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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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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
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  variant carriers: 0
genotype quality: GenotypeQuality
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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
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro504Pro
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

12-53777244-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777244
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777244
    reference: chr 12
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1492A>G
  hgvsp: ENSP00000404263.2:p.Ile498Val
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1513A>G
  hgvsp: ENSP00000329357.4:p.Ile505Val
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
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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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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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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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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: 3.25e1
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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
  all individuals: 2850
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genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile505Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

12-53777249-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777249
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777249
    reference: chr 12
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1518C>T
  hgvsp: ENST00000327443.4:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1497C>T
  hgvsp: ENST00000426431.2:c.1497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 23053
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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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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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  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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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala506Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

12-53777259-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777259
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777259
    reference: chr 12
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1528T>C
  hgvsp: ENSP00000329357.4:p.Ser510Pro
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1507T>C
  hgvsp: ENSP00000404263.2:p.Ser503Pro
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12252
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 162
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genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 254
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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
  all individuals: 65
  bin: 9.25e1
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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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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: 9
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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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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8089
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser510Pro
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

12-53777265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777265
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777265
    reference: chr 12
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1513C>T
  hgvsp: ENSP00000404263.2:p.Pro505Ser
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1534C>T
  hgvsp: ENSP00000329357.4:p.Pro512Ser
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
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genotype depth: GenotypeDepth
  all individuals: 12280
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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
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
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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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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
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genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3811
  bin: 7.25e1
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 62
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  variant carriers: 0
hgvs: p.Pro512Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-53777270-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777270
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777270
    reference: chr 12
allele count: 3
allele frequency: 2.472676920033628e-5
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1518T>C
  hgvsp: ENST00000426431.2:c.1518T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1539T>C
  hgvsp: ENST00000327443.4:c.1539T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7071
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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
  all individuals: 2851
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  variant carriers: 0
hgvs: p.Ala513Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66698
  num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

12-53777273-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777273
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777273
    reference: chr 12
allele count: 2
allele frequency: 1.648614339647526e-5
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1521C>T
  hgvsp: ENST00000426431.2:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1542C>T
  hgvsp: ENST00000327443.4:c.1542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
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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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  bin: 6.25e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2851
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8086
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3808
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22977
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly514Gly
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10374
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD

12-53777297-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777297
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777297
    reference: chr 12
allele count: 4
allele frequency: 3.300438958381465e-5
allele num: 121196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1545A>G
  hgvsp: ENST00000426431.2:c.1545A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1566A>G
  hgvsp: ENST00000327443.4:c.1566A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1705
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3797
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22916
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 8070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 4103
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4931
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln522Gln
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10344
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

12-53777301-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777301
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777301
    reference: chr 12
allele count: 25
allele frequency: 2.063046707377455e-4
allele num: 121180
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1570T>A
  hgvsp: ENSP00000329357.4:p.Ser524Thr
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1549T>A
  hgvsp: ENSP00000404263.2:p.Ser517Thr
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 49
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7071
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genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
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  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 94
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4928
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22920
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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
  all individuals: 17
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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: 11753
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser524Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10342
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

12-53777303-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777303
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777303
    reference: chr 12
allele count: 3
allele frequency: 2.475982965237199e-5
allele num: 121164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1551C>T
  hgvsp: ENST00000426431.2:c.1551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1572C>T
  hgvsp: ENST00000327443.4:c.1572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 23
  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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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: 2020
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser524Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-53777306-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777306
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777306
    reference: chr 12
allele count: 2
allele frequency: 1.651091371396493e-5
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1554C>T
  hgvsp: ENST00000426431.2:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1575C>T
  hgvsp: ENST00000327443.4:c.1575C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 12266
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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
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22891
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser525Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10330
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

12-53777307-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777307
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777307
    reference: chr 12
allele count: 11
allele frequency: 9.081152480805745e-5
allele num: 121130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1555A>G
  hgvsp: ENSP00000404263.2:p.Met519Val
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1576A>G
  hgvsp: ENSP00000329357.4:p.Met526Val
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11739
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 4926
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2851
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8060
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met526Val
num of homozygotes: 1
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10328
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-53777312-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777312
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777312
    reference: chr 12
allele count: 2
allele frequency: 1.65169133192389e-5
allele num: 121088
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1581A>G
  hgvsp: ENST00000327443.4:c.1581A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1560A>G
  hgvsp: ENST00000426431.2:c.1560A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8047
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11732
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2851
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4924
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro527Pro
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.502223290469895e-5
  allele num: 66568
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-53777318-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777318
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777318
    reference: chr 12
allele count: 86
allele frequency: 7.104971827960543e-4
allele num: 121042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1566C>A
  hgvsp: ENST00000426431.2:c.1566C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1587C>A
  hgvsp: ENST00000327443.4:c.1587C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7071
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12165
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12261
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4102
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8043
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4925
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11733
  bin: 9.75e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu529Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 83
  allele frequency: 8.050436469447139e-3
  allele num: 10310
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-53777322-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777322
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777322
    reference: chr 12
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1591A>G
  hgvsp: ENSP00000329357.4:p.Thr531Ala
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1570A>G
  hgvsp: ENSP00000404263.2:p.Thr524Ala
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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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: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 304
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 22792
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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: 4108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11674
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr531Ala
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11552
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

12-53777325-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777325
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777325
    reference: chr 12
allele count: 1
allele frequency: 8.267742575567167e-6
allele num: 120952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1573A>G
  hgvsp: ENSP00000404263.2:p.Ile525Val
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1594A>G
  hgvsp: ENSP00000329357.4:p.Ile532Val
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4927
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11672
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2857
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile532Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-53777330-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777330
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777330
    reference: chr 12
allele count: 3
allele frequency: 2.48208760114507e-5
allele num: 120866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1578C>T
  hgvsp: ENST00000426431.2:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1599C>T
  hgvsp: ENST00000327443.4:c.1599C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22704
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2857
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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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: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4107
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 8027
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn533Asn
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

12-53777340-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777340
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777340
    reference: chr 12
allele count: 1
allele frequency: 8.29132395860971e-6
allele num: 120608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1588T>C
  hgvsp: ENST00000426431.2:c.1588T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1609T>C
  hgvsp: ENST00000327443.4:c.1609T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12243
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11919
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8004
  bin: 6.75e1
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4102
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu537Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11540
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

12-53777351-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777351
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777351
    reference: chr 12
allele count: 1
allele frequency: 8.324038157390913e-6
allele num: 120134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1599A>G
  hgvsp: ENST00000426431.2:c.1599A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1620A>G
  hgvsp: ENST00000327443.4:c.1620A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12160
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11671
  bin: 2.25e1
  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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  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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genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2021
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4095
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser540Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 896
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

12-53777361-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777361
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777361
    reference: chr 12
allele count: 1
allele frequency: 8.355475342992263e-6
allele num: 119682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1609G>A
  hgvsp: ENSP00000404263.2:p.Val537Met
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1630G>A
  hgvsp: ENSP00000329357.4:p.Val544Met
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  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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  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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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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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  bin: 7.75e1
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genotype quality: GenotypeQuality
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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: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11659
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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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
  all individuals: 7780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4077
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val544Met
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11506
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

12-53777363-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777363
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777363
    reference: chr 12
allele count: 1
allele frequency: 8.370162046337218e-6
allele num: 119472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1611G>T
  hgvsp: ENST00000426431.2:c.1611G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1632G>T
  hgvsp: ENST00000327443.4:c.1632G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
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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  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
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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: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
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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
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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
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val544Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11500
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

12-53777370-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777370
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777370
    reference: chr 12
allele count: 1
allele frequency: 8.419067504083248e-6
allele num: 118778
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1639A>G
  hgvsp: ENSP00000329357.4:p.Ile547Val
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1618A>G
  hgvsp: ENSP00000404263.2:p.Ile540Val
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  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
  all individuals: 11842
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  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
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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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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
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: 1054
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 9.25e1
  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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genotype quality: GenotypeQuality
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  bin: 8.25e1
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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
  all individuals: 7610
  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
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  variant carriers: 0
hgvs: p.Ile547Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8556
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/12-53777373-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777373
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777373
    reference: chr 12
allele count: 1
allele frequency: 8.478456242687331e-6
allele num: 117946
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1642C>A
  hgvsp: ENSP00000329357.4:p.Gln548Lys
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1621C>A
  hgvsp: ENSP00000404263.2:p.Gln541Lys
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
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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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  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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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
  all individuals: 92
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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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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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: 193
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln548Lys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.53817756721836e-5
  allele num: 65012
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

12-53777381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777381
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777381
    reference: chr 12
allele count: 8
allele frequency: 6.831067695880866e-5
allele num: 117112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1629G>A
  hgvsp: ENST00000426431.2:c.1629G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1650G>A
  hgvsp: ENST00000327443.4:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 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: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4052
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11650
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 7396
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3591
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu550Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 874
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

12-53777384-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777384
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777384
    reference: chr 12
allele count: 1
allele frequency: 8.596234849136078e-6
allele num: 116330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1632G>A
  hgvsp: ENST00000426431.2:c.1632G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1653G>A
  hgvsp: ENST00000327443.4:c.1653G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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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
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4051
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11647
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
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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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genotype quality: GenotypeQuality
  all individuals: 136
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3584
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro551Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11426
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-53777384-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777384
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777384
    reference: chr 12
allele count: 4
allele frequency: 3.438493939654431e-5
allele num: 116330
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1653G>T
  hgvsp: ENST00000327443.4:c.1653G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1632G>T
  hgvsp: ENST00000426431.2:c.1632G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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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: 9.75e1
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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
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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: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 9.25e1
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4815
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro551Pro
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 866
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-53777385-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777385
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777385
    reference: chr 12
allele count: 1
allele frequency: 8.594314001856373e-6
allele num: 116356
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1654T>C
  hgvsp: ENST00000327443.4:c.1654T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1633T>C
  hgvsp: ENST00000426431.2:c.1633T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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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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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: 2.75e1
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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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  bin: 9.25e1
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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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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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genotype quality: GenotypeQuality
  all individuals: 67
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu552Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 64466
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-53777385-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777385
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777385
    reference: chr 12
allele count: 1
allele frequency: 8.594314001856373e-6
allele num: 116356
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1654T>G
  hgvsp: ENSP00000329357.4:p.Leu552Val
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1633T>G
  hgvsp: ENSP00000404263.2:p.Leu545Val
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  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
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  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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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
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 4817
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
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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: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu552Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14830
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-53777390-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777390
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777390
    reference: chr 12
allele count: 2
allele frequency: 1.733823427422151e-5
allele num: 115352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1638T>C
  hgvsp: ENST00000426431.2:c.1638T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1659T>C
  hgvsp: ENST00000327443.4:c.1659T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 91
  bin: 8.75e1
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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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  bin: 1.25e1
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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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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: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17876
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala553Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9538
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

12-53777391-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777391
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777391
    reference: chr 12
allele count: 1
allele frequency: 8.679651425198764e-6
allele num: 115212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1639A>G
  hgvsp: ENSP00000404263.2:p.Ile547Val
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1660A>G
  hgvsp: ENSP00000329357.4:p.Ile554Val
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
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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: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  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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  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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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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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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  bin: 8.25e1
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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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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11646
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile554Val
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6598
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-53777391-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777391
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777391
    reference: chr 12
allele count: 1
allele frequency: 8.679651425198764e-6
allele num: 115212
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1660A>T
  hgvsp: ENSP00000329357.4:p.Ile554Leu
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1639A>T
  hgvsp: ENSP00000404263.2:p.Ile547Leu
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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hgvs: p.Ile554Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 858
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

12-53777397-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777397
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777397
    reference: chr 12
allele count: 1
allele frequency: 8.760096010652276e-6
allele num: 114154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1645A>G
  hgvsp: ENSP00000404263.2:p.Asn549Asp
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1666A>G
  hgvsp: ENSP00000329357.4:p.Asn556Asp
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn556Asp
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6596
  num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

12-53777399-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777399
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777399
    reference: chr 12
allele count: 2
allele frequency: 1.758798388940676e-5
allele num: 113714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1647T>C
  hgvsp: ENST00000426431.2:c.1647T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1668T>C
  hgvsp: ENST00000327443.4:c.1668T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  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: 11646
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4788
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7204
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn556Asn
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8428
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

12-53777403-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777403
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777403
    reference: chr 12
allele count: 1
allele frequency: 8.854258898530193e-6
allele num: 112940
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1672C>T
  hgvsp: ENSP00000329357.4:p.Pro558Ser
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1651C>T
  hgvsp: ENSP00000404263.2:p.Pro551Ser
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16441
  bin: 6.25e1
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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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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genotype quality: GenotypeQuality
  all individuals: 198
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro558Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.795074758135444e-5
  allele num: 11370
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

12-53777419-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777419
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777419
    reference: chr 12
allele count: 4
allele frequency: 3.626473254759746e-5
allele num: 110300
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1675+13A>G
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1654+13A>G
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7882
  bin: 2.25e1
  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: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 668
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5448
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2006
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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
  all individuals: 2837
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8888
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

12-53777420-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777420
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777420
    reference: chr 12
allele count: 1
allele frequency: 9.079188683699225e-6
allele num: 110142
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1675+14T>C
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1654+14T>C
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
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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
  all individuals: 90
  bin: 8.75e1
  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 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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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7079
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.609528408176404e-5
  allele num: 62130
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-53777422-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777422
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777422
    reference: chr 12
allele count: 1
allele frequency: 9.099346666909316e-6
allele num: 109898
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1654+16T>C
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1675+16T>C
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11645
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4041
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15395
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7076
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4774
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8838
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

12-53777427-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777427
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777427
    reference: chr 12
allele count: 4
allele frequency: 3.676876126043313e-5
allele num: 108788
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1675+21C>T
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1654+21C>T
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15181
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 213
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11646
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 61678
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

12-53777432-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777432
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777432
    reference: chr 12
allele count: 1
allele frequency: 9.258744884543451e-6
allele num: 108006
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1675+26A>G
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1654+26A>G
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3531
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11643
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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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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
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genotype quality: GenotypeQuality
  all individuals: 4390
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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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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 61432
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

12-53777433-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777433
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777433
    reference: chr 12
allele count: 1
allele frequency: 9.261145788957009e-6
allele num: 107978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1654+27T>C
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1675+27T>C
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  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
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4037
  bin: 8.25e1
  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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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: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2004
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genotype quality: GenotypeQuality
  all individuals: 7020
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8714
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD

12-53777444-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777444
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777444
    reference: chr 12
allele count: 2
allele frequency: 1.881042850156126e-5
allele num: 106324
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1675+38C>T
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1654+38C>T
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  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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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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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: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 8.75e1
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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: 7.25e1
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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: 3.75e1
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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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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3101
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8282
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

12-53777453-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777453
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777453
    reference: chr 12
allele count: 12
allele frequency: 1.139298192313535e-4
allele num: 105328
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1675+47C>T
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1654+47C>T
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 10451
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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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
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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
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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: 728
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 764
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

12-53777454-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53777454
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53777454
    reference: chr 12
allele count: 1
allele frequency: 9.503174060136086e-6
allele num: 105228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1654+48G>A
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1675+48G>A
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.75e1
  variant carriers: 1
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 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: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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
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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: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6580
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

12-53800321-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53800321
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53800321
    reference: chr 12
allele count: 1
allele frequency: 8.306061763875276e-6
allele num: 120394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1655-48G>A
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1676-48G>A
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
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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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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

12-53800323-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53800323
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53800323
    reference: chr 12
allele count: 137
allele frequency: 1.137609193875178e-3
allele num: 120428
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1676-46T>C
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1655-46T>C
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1759
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  variant carriers: 2
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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  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 8518
  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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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 9.75e1
  variant carriers: 136
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8648
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-53800324-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53800324
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53800324
    reference: chr 12
allele count: 1
allele frequency: 8.304130474498016e-6
allele num: 120422
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000329357
  ensembl transcript: ENST00000327443
  gene symbol: SP1
  hgvsc: ENST00000327443.4:c.1676-45A>G
  variant of: http://identifiers.org/hgnc/11205
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185591
  ensembl protein: ENSP00000404263
  ensembl transcript: ENST00000426431
  gene symbol: SP1
  hgvsc: ENST00000426431.2:c.1655-45A>G
  variant of: http://identifiers.org/hgnc/11205
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66416
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.838656e6

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.342e1

FS
type: SiteQuality
SIO_000300: 3.618e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.39e0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.83871e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.99e-1

FS
type: SiteQuality
SIO_000300: 8.019e0

QD
type: SiteQuality
SIO_000300: 1.251e1

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.569e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.198e0

VQSLOD
type: SiteQuality
SIO_000300: 3.28e-1

FS
type: SiteQuality
SIO_000300: 2.489e0

DP
type: SiteQuality
SIO_000300: 1.839159e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.514e0

VQSLOD
type: SiteQuality
SIO_000300: 5.590000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.838998e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.349e1

FS
type: SiteQuality
SIO_000300: 2.091e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.606e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.728e1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

VQSLOD
type: SiteQuality
SIO_000300: -7.849e-1

DP
type: SiteQuality
SIO_000300: 1.838959e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.996e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

QD
type: SiteQuality
SIO_000300: 1.477e1

DP
type: SiteQuality
SIO_000300: 1.839337e6

MQ
type: SiteQuality
SIO_000300: 5.933e1

FS
type: SiteQuality
SIO_000300: 4.098e0

VQSLOD
type: SiteQuality
SIO_000300: 3.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.836e0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e-1

DP
type: SiteQuality
SIO_000300: 1.839606e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.184e0

QD
type: SiteQuality
SIO_000300: 1.046e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.96e-1

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.34e-2

QD
type: SiteQuality
SIO_000300: 1.436e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.302e0

DP
type: SiteQuality
SIO_000300: 1.839602e6

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-1

FS
type: SiteQuality
SIO_000300: 3.049e0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

DP
type: SiteQuality
SIO_000300: 1.839771e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.457e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

FS
type: SiteQuality
SIO_000300: 2.685e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 6.42e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.27e0

VQSLOD
type: SiteQuality
SIO_000300: -1.494e0

QD
type: SiteQuality
SIO_000300: 1.256e1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-1

DP
type: SiteQuality
SIO_000300: 1.839979e6

FS
type: SiteQuality
SIO_000300: 6.19e-1

MQ
type: SiteQuality
SIO_000300: 5.762e1

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.97e0

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

QD
type: SiteQuality
SIO_000300: 1.529e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.55e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.17e-1

DP
type: SiteQuality
SIO_000300: 1.840116e6

FS
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495459585818323e-5
allele num: 66734
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.251e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

FS
type: SiteQuality
SIO_000300: 1.119e0

DP
type: SiteQuality
SIO_000300: 1.840383e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.639e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.82e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.298e1

MQRankSum
type: SiteQuality
SIO_000300: 2.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.493e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.501e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.840335e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.317e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Latino
type: Population
allele count: 4
allele frequency: 3.455425017277125e-4
allele num: 11576
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.840767e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.22e-1

QD
type: SiteQuality
SIO_000300: 1.447e1

VQSLOD
type: SiteQuality
SIO_000300: 6.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.037e0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.024e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.57e-1

FS
type: SiteQuality
SIO_000300: 1.713e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

QD
type: SiteQuality
SIO_000300: 1.371e1

MQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.453e0

DP
type: SiteQuality
SIO_000300: 1.840678e6

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.840678e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.024e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.713e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.453e0

MQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

QD
type: SiteQuality
SIO_000300: 1.371e1

MQ
type: SiteQuality
SIO_000300: 5.935e1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.49243264303054e-5
allele num: 66734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.841112e6

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

FS
type: SiteQuality
SIO_000300: 1.789e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

QD
type: SiteQuality
SIO_000300: 1.4e1

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.841056e6

QD
type: SiteQuality
SIO_000300: 1.593e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 7.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: -4.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.155e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.14e-1

European (Finnish)
type: Population
allele count: 1062
allele frequency: 1.605684910795283e-1
allele num: 6614
num of homozygotes: 98

African
type: Population
allele count: 2239
allele frequency: 2.152056901191849e-1
allele num: 10404
num of homozygotes: 255

South Asian
type: Population
allele count: 2435
allele frequency: 1.474863718958207e-1
allele num: 16510
num of homozygotes: 181

Latino
type: Population
allele count: 2226
allele frequency: 1.923276308968377e-1
allele num: 11574
num of homozygotes: 195

European (Non-Finnish)
type: Population
allele count: 11169
allele frequency: 1.673960612691466e-1
allele num: 66722
num of homozygotes: 913

Other
type: Population
allele count: 156
allele frequency: 1.718061674008811e-1
allele num: 908
num of homozygotes: 8

VQSLOD
type: SiteQuality
SIO_000300: 5.98e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

QD
type: SiteQuality
SIO_000300: 1.728e1

DP
type: SiteQuality
SIO_000300: 3.613226e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.46e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.463e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 2.01607e6

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

QD
type: SiteQuality
SIO_000300: 1.246e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.124e0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.363e1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 2.016169e6

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

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

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 1

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

QD
type: SiteQuality
SIO_000300: 1.684e1

DP
type: SiteQuality
SIO_000300: 2.016059e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.95e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.57e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.74e-1

FS
type: SiteQuality
SIO_000300: 2.454e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-1

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

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

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

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

African
type: Population
allele count: 4
allele frequency: 3.844675124951942e-4
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.745e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

FS
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.516e1

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 2.015799e6

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 2.015321e6

VQSLOD
type: SiteQuality
SIO_000300: 4.71e-1

QD
type: SiteQuality
SIO_000300: 1.662e1

FS
type: SiteQuality
SIO_000300: 5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: -2.121e0

MQ
type: SiteQuality
SIO_000300: 5.609e1

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

DP
type: SiteQuality
SIO_000300: 2.015132e6

VQSLOD
type: SiteQuality
SIO_000300: 3.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.061e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.107e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.151e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.1197e1

DP
type: SiteQuality
SIO_000300: 2.015074e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

QD
type: SiteQuality
SIO_000300: 1.368e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.627e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: -1.049e0

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

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

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

East Asian
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allele count: 0
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African
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Other
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BaseQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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InbreedingCoeff
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FS
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QD
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MQRankSum
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.963e1

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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African
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South Asian
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East Asian
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allele frequency: 1.155535012710885e-4
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European (Finnish)
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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QD
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ClippingRankSum
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DP
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VQSLOD
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European (Finnish)
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European (Non-Finnish)
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Latino
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East Asian
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Other
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South Asian
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FS
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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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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Other
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European (Finnish)
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VQSLOD
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MQ
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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ReadPosRankSum
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QD
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Latino
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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allele frequency: 2.997781641585227e-5
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South Asian
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MQ
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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DP
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East Asian
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European (Finnish)
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South Asian
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Latino
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African
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European (Non-Finnish)
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MQ
type: SiteQuality
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FS
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQRankSum
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DP
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QD
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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East Asian
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South Asian
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DP
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FS
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InbreedingCoeff
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QD
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VQSLOD
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ReadPosRankSum
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MQ
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.08e-1

East Asian
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African
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South Asian
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European (Non-Finnish)
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Latino
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Other
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FS
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
type: SiteQuality
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African
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East Asian
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European (Non-Finnish)
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allele num: 66706
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Latino
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Other
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South Asian
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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MQ
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QD
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DP
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African
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European (Finnish)
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Latino
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East Asian
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Other
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European (Non-Finnish)
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DP
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BaseQRankSum
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FS
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MQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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QD
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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African
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South Asian
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Latino
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East Asian
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European (Finnish)
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Other
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQ
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DP
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QD
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East Asian
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Other
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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FS
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QD
type: SiteQuality
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European (Finnish)
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Latino
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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European (Non-Finnish)
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South Asian
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Latino
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Other
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East Asian
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European (Finnish)
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VQSLOD
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BaseQRankSum
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MQ
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QD
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ReadPosRankSum
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FS
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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DP
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African
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European (Non-Finnish)
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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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QD
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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ClippingRankSum
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MQ
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BaseQRankSum
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e-1

Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Other
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East Asian
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InbreedingCoeff
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FS
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DP
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VQSLOD
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SIO_000300: 7.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.063e0

QD
type: SiteQuality
SIO_000300: 1.375e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.38e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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South Asian
type: Population
allele count: 11
allele frequency: 6.672328035909256e-4
allele num: 16486
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FS
type: SiteQuality
SIO_000300: 5.22e-1

DP
type: SiteQuality
SIO_000300: 2.010326e6

QD
type: SiteQuality
SIO_000300: 1.487e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e0

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.604e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.43e-2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11558
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10318
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East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.61e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

DP
type: SiteQuality
SIO_000300: 2.009303e6

FS
type: SiteQuality
SIO_000300: 3.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

QD
type: SiteQuality
SIO_000300: 2.808e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.596053997923157e-4
allele num: 11556
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.819e0

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

QD
type: SiteQuality
SIO_000300: 1.319e1

DP
type: SiteQuality
SIO_000300: 2.010246e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
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MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 2.002256e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 7.336e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.436e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 2.001753e6

QD
type: SiteQuality
SIO_000300: 1.127e1

FS
type: SiteQuality
SIO_000300: 5.693e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.516575833308241e-5
allele num: 66422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.79e-1

DP
type: SiteQuality
SIO_000300: 2.000726e6

FS
type: SiteQuality
SIO_000300: 1.748e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.992e0

African
type: Population
allele count: 1
allele frequency: 9.773260359655981e-5
allele num: 10232
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
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VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

QD
type: SiteQuality
SIO_000300: 1.314e1

DP
type: SiteQuality
SIO_000300: 1.996351e6

FS
type: SiteQuality
SIO_000300: 4.602e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.77e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515197430225158e-5
allele num: 65998
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MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

DP
type: SiteQuality
SIO_000300: 1.98806e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

FS
type: SiteQuality
SIO_000300: 1.486e0

VQSLOD
type: SiteQuality
SIO_000300: 7.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.271e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
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allele count: 0
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allele num: 8584
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.160670280926565e-5
allele num: 16232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65752
num of homozygotes: 0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.286e0

DP
type: SiteQuality
SIO_000300: 1.977728e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.51e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16176
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.523229246001523e-5
allele num: 65650
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QD
type: SiteQuality
SIO_000300: 1.4e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.493e0

FS
type: SiteQuality
SIO_000300: 4.465e0

DP
type: SiteQuality
SIO_000300: 1.973445e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.909e1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65370
num of homozygotes: 0

African
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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: 6606
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Latino
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allele count: 0
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num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.29009938357026e-5
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Other
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.44e-1

QD
type: SiteQuality
SIO_000300: 1.397e1

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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South Asian
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Other
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.836e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

DP
type: SiteQuality
SIO_000300: 1.94902e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e0

FS
type: SiteQuality
SIO_000300: 9.015000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -2.924e0

MQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 9782
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64724
num of homozygotes: 0

East Asian
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allele count: 8
allele frequency: 9.407337723424271e-4
allele num: 8504
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

FS
type: SiteQuality
SIO_000300: 1.909e0

VQSLOD
type: SiteQuality
SIO_000300: 8.86e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.76e-1

DP
type: SiteQuality
SIO_000300: 1.93366e6

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.167e0

African
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allele count: 1
allele frequency: 1.032844453625284e-4
allele num: 9682
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 866
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64456
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East Asian
type: Population
allele count: 0
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FS
type: SiteQuality
SIO_000300: 3.212e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

VQSLOD
type: SiteQuality
SIO_000300: 7.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.091e0

DP
type: SiteQuality
SIO_000300: 1.921957e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.21e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64456
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 2.699055330634278e-4
allele num: 14820
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

VQSLOD
type: SiteQuality
SIO_000300: 7.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.21e-1

FS
type: SiteQuality
SIO_000300: 3.212e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.091e0

QD
type: SiteQuality
SIO_000300: 1.245e1

DP
type: SiteQuality
SIO_000300: 1.921957e6

African
type: Population
allele count: 0
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num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.750437521876094e-5
allele num: 11428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14830
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.49e-1

FS
type: SiteQuality
SIO_000300: 4.391e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.92126e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.071e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.411e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.033057851239669e-4
allele num: 9680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
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VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

FS
type: SiteQuality
SIO_000300: 4.391e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.071e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

MQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

DP
type: SiteQuality
SIO_000300: 1.92126e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.411e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.49e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 2
allele frequency: 1.385425325574952e-4
allele num: 14436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64050
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.599e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.645e1

DP
type: SiteQuality
SIO_000300: 1.906503e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14372
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63998
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African
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allele count: 1
allele frequency: 1.049979000419992e-4
allele num: 9524
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.35e-1

FS
type: SiteQuality
SIO_000300: 2.254e0

VQSLOD
type: SiteQuality
SIO_000300: 9.66e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

DP
type: SiteQuality
SIO_000300: 1.903962e6

QD
type: SiteQuality
SIO_000300: 1.487e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63998
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.957973838018369e-5
allele num: 14372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
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MQRankSum
type: SiteQuality
SIO_000300: 7.35e-1

FS
type: SiteQuality
SIO_000300: 2.254e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

DP
type: SiteQuality
SIO_000300: 1.903962e6

QD
type: SiteQuality
SIO_000300: 1.487e1

VQSLOD
type: SiteQuality
SIO_000300: 9.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9364
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573019568363431e-5
allele num: 63572
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.158e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.598e1

DP
type: SiteQuality
SIO_000300: 1.889598e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.269e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.915e1

MQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.153678766280867e-5
allele num: 63418
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

DP
type: SiteQuality
SIO_000300: 1.884658e6

QD
type: SiteQuality
SIO_000300: 1.278e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

FS
type: SiteQuality
SIO_000300: 6.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9204
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
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MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 1.877049e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.669e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

FS
type: SiteQuality
SIO_000300: 2.102e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.68e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.626e0

QD
type: SiteQuality
SIO_000300: 1.469e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607561971514002e-5
allele num: 62206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.471576866040534e-4
allele num: 12138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
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DP
type: SiteQuality
SIO_000300: 1.851317e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.395e1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8872
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12076
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MQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.75e-1

FS
type: SiteQuality
SIO_000300: 2.926e0

QD
type: SiteQuality
SIO_000300: 1.45e1

DP
type: SiteQuality
SIO_000300: 1.850259e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.47e-1

East Asian
type: Population
allele count: 1
allele frequency: 1.19703136222169e-4
allele num: 8354
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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allele num: 800
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MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 1.331e1

DP
type: SiteQuality
SIO_000300: 1.847968e6

FS
type: SiteQuality
SIO_000300: 1.2794e1

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.617e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.141552511415525e-4
allele num: 8760
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.85112409275978e-5
allele num: 11298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
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East Asian
type: Population
allele count: 2
allele frequency: 2.398081534772182e-4
allele num: 8340
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.158e0

QD
type: SiteQuality
SIO_000300: 1.184e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

FS
type: SiteQuality
SIO_000300: 2.737e0

DP
type: SiteQuality
SIO_000300: 1.840715e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10870
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.147842056932966e-4
allele num: 8712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.832774e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.47e-1

FS
type: SiteQuality
SIO_000300: 1.721e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e0

QD
type: SiteQuality
SIO_000300: 1.532e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.628081143564195e-5
allele num: 61422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 11296
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 782
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

DP
type: SiteQuality
SIO_000300: 1.832581e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 3.707e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-2

QD
type: SiteQuality
SIO_000300: 1.229e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.286446693834626e-5
allele num: 60856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.813332e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.87e-1

QD
type: SiteQuality
SIO_000300: 1.099e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.736e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.03777501037775e-4
allele num: 9636
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.765625e-4
allele num: 11264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

FS
type: SiteQuality
SIO_000300: 5.434e0

QD
type: SiteQuality
SIO_000300: 1.494e1

VQSLOD
type: SiteQuality
SIO_000300: 6.909999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

DP
type: SiteQuality
SIO_000300: 1.795488e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.653493832468005e-5
allele num: 60478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.98e-1

DP
type: SiteQuality
SIO_000300: 1.79415e6

FS
type: SiteQuality
SIO_000300: 1.695e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.673e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-2

QD
type: SiteQuality
SIO_000300: 1.314e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505888022166672e-5
allele num: 66406
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15894
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.127e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

QD
type: SiteQuality
SIO_000300: 1.299e1

VQSLOD
type: SiteQuality
SIO_000300: 5.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.634827e6

Latino
type: Population
allele count: 12
allele frequency: 1.038241910365115e-3
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 104
allele frequency: 1.00019234468167e-2
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.860756444230306e-4
allele num: 66416
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15906
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.222222222222222e-3
allele num: 900
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

QD
type: SiteQuality
SIO_000300: 1.516e1

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

FS
type: SiteQuality
SIO_000300: 7.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

DP
type: SiteQuality
SIO_000300: 1.636389e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.289308176100629e-5
allele num: 15900
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.634535e6

FS
type: SiteQuality
SIO_000300: 3.117e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0