3-47462033-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462033
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462033
    reference: chr 3
allele count: 2
allele frequency: 3.492229788720098e-5
allele num: 57270
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1563+11C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.798+11C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*407+11C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.387+11C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*280+11C>G
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12518
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28542
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4004
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4472
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4407
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

3-47462041-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462041
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462041
    reference: chr 3
allele count: 1
allele frequency: 1.581127660247289e-5
allele num: 63246
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1563+3A>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*407+3A>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.387+3A>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.798+3A>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*280+3A>C
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11833
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25599
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 488
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genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3987
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3942
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1563+3A>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

3-47462056-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462056
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462056
    reference: chr 3
allele count: 1
allele frequency: 1.261957042982257e-5
allele num: 79242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*395G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1551G>A
  hgvsp: ENST00000265565.5:c.1551G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.786G>A
  hgvsp: ENST00000441517.2:c.786G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.375G>A
  hgvsp: ENST00000545718.1:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*268G>A
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20850
  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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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1609
  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
  all individuals: 668
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genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln517Gln
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

3-47462073-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462073
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462073
    reference: chr 3
allele count: 1
allele frequency: 1.028489149439473e-5
allele num: 97230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.358C>T
  hgvsp: ENSP00000438956.1:p.Arg120Cys
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*251C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1534C>T
  hgvsp: ENSP00000265565.5:p.Arg512Cys
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*378C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.769C>T
  hgvsp: ENSP00000416847.2:p.Arg257Cys
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8184
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg512Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

3-47462093-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462093
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462093
    reference: chr 3
allele count: 31
allele frequency: 2.780269058295964e-4
allele num: 111500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*358G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.338G>A
  hgvsp: ENSP00000438956.1:p.Arg113His
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*231G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.749G>A
  hgvsp: ENSP00000416847.2:p.Arg250His
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1514G>A
  hgvsp: ENSP00000265565.5:p.Arg505His
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35630
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10786
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35347
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4964
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg505His
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

3-47462103-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462103
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462103
    reference: chr 3
allele count: 1
allele frequency: 8.60303859323113e-6
allele num: 116238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*348A>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.328A>G
  hgvsp: ENSP00000438956.1:p.Lys110Glu
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.739A>G
  hgvsp: ENSP00000416847.2:p.Lys247Glu
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*221A>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1504A>G
  hgvsp: ENSP00000265565.5:p.Lys502Glu
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys502Glu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

3-47462111-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462111
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462111
    reference: chr 3
allele count: 1
allele frequency: 8.49689863199932e-6
allele num: 117690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*213G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.731G>A
  hgvsp: ENSP00000416847.2:p.Arg244Gln
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*340G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.320G>A
  hgvsp: ENSP00000438956.1:p.Arg107Gln
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1496G>A
  hgvsp: ENSP00000265565.5:p.Arg499Gln
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.587G>A
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7401
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38069
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg499Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ

3-47462131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462131
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462131
    reference: chr 3
allele count: 1
allele frequency: 8.382229673093043e-6
allele num: 119300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*193G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.567G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.300G>A
  hgvsp: ENST00000545718.1:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.711G>A
  hgvsp: ENST00000441517.2:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*320G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1476G>A
  hgvsp: ENST00000265565.5:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
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genotype depth: GenotypeDepth
  all individuals: 37161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38500
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro492Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

3-47462133-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462133
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462133
    reference: chr 3
allele count: 1
allele frequency: 8.37548996616302e-6
allele num: 119396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1474C>A
  hgvsp: ENSP00000265565.5:p.Pro492Thr
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*318C>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.709C>A
  hgvsp: ENSP00000416847.2:p.Pro237Thr
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.298C>A
  hgvsp: ENSP00000438956.1:p.Pro100Thr
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.565C>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*191C>A
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro492Thr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

3-47462140-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462140
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462140
    reference: chr 3
allele count: 3
allele frequency: 2.510628326582533e-5
allele num: 119492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*184G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.291G>A
  hgvsp: ENST00000545718.1:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.702G>A
  hgvsp: ENST00000441517.2:c.702G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.558G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*311G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1467G>A
  hgvsp: ENST00000265565.5:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37134
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr489Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

3-47462141-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462141
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462141
    reference: chr 3
allele count: 1
allele frequency: 8.36470096194061e-6
allele num: 119550
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1466C>T
  hgvsp: ENSP00000265565.5:p.Thr489Met
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.290C>T
  hgvsp: ENSP00000438956.1:p.Thr97Met
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*183C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*310C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.701C>T
  hgvsp: ENSP00000416847.2:p.Thr234Met
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.557C>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr489Met
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-47462141-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462141
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462141
    reference: chr 3
allele count: 2
allele frequency: 1.672940192388122e-5
allele num: 119550
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1466C>G
  hgvsp: ENSP00000265565.5:p.Thr489Arg
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*183C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.701C>G
  hgvsp: ENSP00000416847.2:p.Thr234Arg
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.290C>G
  hgvsp: ENSP00000438956.1:p.Thr97Arg
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.557C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*310C>G
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr489Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

3-47462146-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462146
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462146
    reference: chr 3
allele count: 7
allele frequency: 5.851766397485412e-5
allele num: 119622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.552C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1461C>G
  hgvsp: ENST00000265565.5:c.1461C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.696C>G
  hgvsp: ENST00000441517.2:c.696C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*305C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.285C>G
  hgvsp: ENST00000545718.1:c.285C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.568C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*178C>G
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr487Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum

3-47462149-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462149
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462149
    reference: chr 3
allele count: 3
allele frequency: 2.507774099709098e-5
allele num: 119628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.693C>T
  hgvsp: ENST00000441517.2:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.282C>T
  hgvsp: ENST00000545718.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1458C>T
  hgvsp: ENST00000265565.5:c.1458C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.549C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*175C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.565C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*302C>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38482
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His486His
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-47462151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462151
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462151
    reference: chr 3
allele count: 8
allele frequency: 6.68594447323115e-5
allele num: 119654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.280C>T
  hgvsp: ENSP00000438956.1:p.His94Tyr
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.691C>T
  hgvsp: ENSP00000416847.2:p.His231Tyr
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.547C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.563C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*300C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1456C>T
  hgvsp: ENSP00000265565.5:p.His486Tyr
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*173C>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His486Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-47462161-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462161
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462161
    reference: chr 3
allele count: 6
allele frequency: 5.014961301215292e-5
allele num: 119642
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1446G>A
  hgvsp: ENST00000265565.5:c.1446G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.553G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.270G>A
  hgvsp: ENST00000545718.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*163G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.681G>A
  hgvsp: ENST00000441517.2:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.537G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*290G>A
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro482Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

3-47462162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462162
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462162
    reference: chr 3
allele count: 1
allele frequency: 8.356173541012099e-6
allele num: 119672
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1445C>T
  hgvsp: ENSP00000265565.5:p.Pro482Leu
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*162C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*289C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.552C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.536C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.269C>T
  hgvsp: ENSP00000438956.1:p.Pro90Leu
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.680C>T
  hgvsp: ENSP00000416847.2:p.Pro227Leu
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro482Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

3-47462164-CCTCACAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462164
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462157
    reference: chr 3
allele count: 1
allele frequency: 8.357989402069439e-6
allele num: 119646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.671_677delCTGTGAG
  hgvsp: ENSP00000416847.2:p.Ala224GlyfsTer67
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*280_*286delCTGTGAG
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.527_533delCTGTGAG
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.260_266delCTGTGAG
  hgvsp: ENSP00000438956.1:p.Ala87GlyfsTer67
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*153_*159delCTGTGAG
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1436_1442delCTGTGAG
  hgvsp: ENSP00000265565.5:p.Ala479GlyfsTer67
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.543_549delCTGTGAG
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala479GlyfsTer67
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: CCTCACAG
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ

3-47462170-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462170
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462170
    reference: chr 3
allele count: 2
allele frequency: 1.671877351077525e-5
allele num: 119626
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1437T>C
  hgvsp: ENST00000265565.5:c.1437T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.672T>C
  hgvsp: ENST00000441517.2:c.672T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*154T>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.544T>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*281T>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.261T>C
  hgvsp: ENST00000545718.1:c.261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.528T>C
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7592
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala479Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

3-47462171-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462171
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462171
    reference: chr 3
allele count: 11
allele frequency: 9.207640667637654e-5
allele num: 119466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.527C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.260C>T
  hgvsp: ENSP00000438956.1:p.Ala87Val
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.671C>T
  hgvsp: ENSP00000416847.2:p.Ala224Val
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.543C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1436C>T
  hgvsp: ENSP00000265565.5:p.Ala479Val
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*153C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*280C>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36479
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala479Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

3-47462173-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462173
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462173
    reference: chr 3
allele count: 1
allele frequency: 8.360644772924887e-6
allele num: 119608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.258G>A
  hgvsp: ENST00000545718.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.541G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*278G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.669G>A
  hgvsp: ENST00000441517.2:c.669G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*151G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1434G>A
  hgvsp: ENST00000265565.5:c.1434G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.525G>A
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu478Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-47462176-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462176
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462176
    reference: chr 3
allele count: 1
allele frequency: 8.344180768332166e-6
allele num: 119844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.522G>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*148G>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.666G>C
  hgvsp: ENSP00000416847.2:p.Gln222His
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1431G>C
  hgvsp: ENSP00000265565.5:p.Gln477His
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.538G>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.255G>C
  hgvsp: ENSP00000438956.1:p.Gln85His
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*275G>C
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35889
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3000
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36856
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln477His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-47462180-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462180
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462180
    reference: chr 3
allele count: 13
allele frequency: 1.084562504171394e-4
allele num: 119864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.251G>A
  hgvsp: ENSP00000438956.1:p.Arg84Gln
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1427G>A
  hgvsp: ENSP00000265565.5:p.Arg476Gln
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.518G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.534G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*271G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.662G>A
  hgvsp: ENSP00000416847.2:p.Arg221Gln
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*144G>A
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg476Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

3-47462183-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462183
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462183
    reference: chr 3
allele count: 1
allele frequency: 8.340840089413805e-6
allele num: 119892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.659A>T
  hgvsp: ENSP00000416847.2:p.Glu220Val
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.248A>T
  hgvsp: ENSP00000438956.1:p.Glu83Val
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.531A>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.515A>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*141A>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1424A>T
  hgvsp: ENSP00000265565.5:p.Glu475Val
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*268A>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3567
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2820
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu475Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

3-47462184-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462184
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462184
    reference: chr 3
allele count: 2
allele frequency: 1.667778519012675e-5
allele num: 119920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.247G>A
  hgvsp: ENSP00000438956.1:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.514G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.658G>A
  hgvsp: ENSP00000416847.2:p.Glu220Lys
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*267G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*140G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1423G>A
  hgvsp: ENSP00000265565.5:p.Glu475Lys
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.530G>A
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35859
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Glu475Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

3-47462185-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462185
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462185
    reference: chr 3
allele count: 4
allele frequency: 3.33667000333667e-5
allele num: 119880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.529C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1422C>T
  hgvsp: ENST00000265565.5:c.1422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.513C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.246C>T
  hgvsp: ENST00000545718.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.657C>T
  hgvsp: ENST00000441517.2:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*139C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*266C>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35862
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12646
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr474Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-47462189-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462189
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462189
    reference: chr 3
allele count: 1
allele frequency: 8.342370901810295e-6
allele num: 119870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.525G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.653G>A
  hgvsp: ENSP00000416847.2:p.Arg218His
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*135G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*262G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.509G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1418G>A
  hgvsp: ENSP00000265565.5:p.Arg473His
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.242G>A
  hgvsp: ENSP00000438956.1:p.Arg81His
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7674
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg473His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

3-47462190-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462190
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462190
    reference: chr 3
allele count: 1
allele frequency: 8.342649291709075e-6
allele num: 119866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.241C>T
  hgvsp: ENSP00000438956.1:p.Arg81Cys
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*134C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.524C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.508C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1417C>T
  hgvsp: ENSP00000265565.5:p.Arg473Cys
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*261C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.652C>T
  hgvsp: ENSP00000416847.2:p.Arg218Cys
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35894
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7667
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg473Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

3-47462191-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462191
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462191
    reference: chr 3
allele count: 2
allele frequency: 1.668446342765617e-5
allele num: 119872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*260G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*133G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.651G>A
  hgvsp: ENST00000441517.2:c.651G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.507G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1416G>A
  hgvsp: ENST00000265565.5:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.240G>A
  hgvsp: ENST00000545718.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.523G>A
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr472Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

3-47462192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462192
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462192
    reference: chr 3
allele count: 38
allele frequency: 3.169572107765452e-4
allele num: 119890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*132C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.239C>T
  hgvsp: ENSP00000438956.1:p.Thr80Met
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.650C>T
  hgvsp: ENSP00000416847.2:p.Thr217Met
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1415C>T
  hgvsp: ENSP00000265565.5:p.Thr472Met
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.522C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.506C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*259C>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7669
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr472Met
num of homozygotes: 1
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

3-47462193-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462193
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462193
    reference: chr 3
allele count: 3
allele frequency: 2.502377258395476e-5
allele num: 119886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*131A>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.505A>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.521A>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*258A>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.649A>G
  hgvsp: ENSP00000416847.2:p.Thr217Ala
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1414A>G
  hgvsp: ENSP00000265565.5:p.Thr472Ala
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.238A>G
  hgvsp: ENSP00000438956.1:p.Thr80Ala
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3025
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr472Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

3-47462196-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462196
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462196
    reference: chr 3
allele count: 3
allele frequency: 2.503045371869107e-5
allele num: 119854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.646C>T
  hgvsp: ENSP00000416847.2:p.Pro216Ser
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.518C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.502C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1411C>T
  hgvsp: ENSP00000265565.5:p.Pro471Ser
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.235C>T
  hgvsp: ENSP00000438956.1:p.Pro79Ser
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*128C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*255C>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro471Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

3-47462200-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462200
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462200
    reference: chr 3
allele count: 118726
allele frequency: 9.866699908584725e-1
allele num: 120330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.642A>G
  hgvsp: ENST00000441517.2:c.642A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*251A>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*124A>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.231A>G
  hgvsp: ENST00000545718.1:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.498A>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.514A>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1407A>G
  hgvsp: ENST00000265565.5:c.1407A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 2.25e1
  variant carriers: 822
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.25e1
  variant carriers: 542
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.25e1
  variant carriers: 1637
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 1293
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.25e1
  variant carriers: 1059
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 5.25e1
  variant carriers: 2964
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 681
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 386
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 2.75e1
  variant carriers: 956
genotype depth: GenotypeDepth
  all individuals: 15171
  bin: 9.75e1
  variant carriers: 15170
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 4.75e1
  variant carriers: 2203
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 5.75e1
  variant carriers: 3640
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 7.25e1
  variant carriers: 4564
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 9.25e1
  variant carriers: 3506
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 8.25e1
  variant carriers: 4144
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 6.25e1
  variant carriers: 4135
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 7.75e1
  variant carriers: 4480
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 6.75e1
  variant carriers: 4508
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 8.75e1
  variant carriers: 3758
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 135
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 9.25e1
  variant carriers: 329
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.25e1
  variant carriers: 202
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 162
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 6.75e1
  variant carriers: 301
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.25e1
  variant carriers: 208
genotype quality: GenotypeQuality
  all individuals: 56728
  bin: 9.75e1
  variant carriers: 56727
hgvs: p.Gly469Gly
num of homozygotes: 58672
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

3-47462204-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462204
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462204
    reference: chr 3
allele count: 4
allele frequency: 3.342860485717629e-5
allele num: 119658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.227T>C
  hgvsp: ENSP00000438956.1:p.Val76Ala
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.638T>C
  hgvsp: ENSP00000416847.2:p.Val213Ala
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*120T>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.494T>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*247T>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.510T>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1403T>C
  hgvsp: ENSP00000265565.5:p.Val468Ala
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12232
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val468Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

3-47462208-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462208
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462208
    reference: chr 3
allele count: 1
allele frequency: 8.356871855726965e-6
allele num: 119662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.223C>G
  hgvsp: ENSP00000438956.1:p.Pro75Ala
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1399C>G
  hgvsp: ENSP00000265565.5:p.Pro467Ala
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.506C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*116C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.634C>G
  hgvsp: ENSP00000416847.2:p.Pro212Ala
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.490C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*243C>G
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12223
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro467Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

3-47462215-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462215
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462215
    reference: chr 3
allele count: 1
allele frequency: 8.367080558251614e-6
allele num: 119516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*109A>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1392A>G
  hgvsp: ENST00000265565.5:c.1392A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.627A>G
  hgvsp: ENST00000441517.2:c.627A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.483A>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*236A>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.499A>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.216A>G
  hgvsp: ENST00000545718.1:c.216A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4946
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12195
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser464Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-47462218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462218
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462218
    reference: chr 3
allele count: 1
allele frequency: 8.36988181726874e-6
allele num: 119476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*233C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1389C>T
  hgvsp: ENST00000265565.5:c.1389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.496C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.624C>T
  hgvsp: ENST00000441517.2:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*106C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.480C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.213C>T
  hgvsp: ENST00000545718.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12187
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4938
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro463Pro
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

3-47462230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462230
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462230
    reference: chr 3
allele count: 1
allele frequency: 8.38321345338095e-6
allele num: 119286
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1377G>A
  hgvsp: ENST00000265565.5:c.1377G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.612G>A
  hgvsp: ENST00000441517.2:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.484G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*94G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.468G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.201G>A
  hgvsp: ENST00000545718.1:c.201G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*221G>A
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12150
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu459Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

3-47462232-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462232
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462230
    reference: chr 3
allele count: 1
allele frequency: 8.383775717232013e-6
allele num: 119278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.464_465delCT
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*217_*218delCT
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1373_1374delCT
  hgvsp: ENSP00000265565.5:p.Pro458ArgfsTer97
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*90_*91delCT
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.197_198delCT
  hgvsp: ENSP00000438956.1:p.Pro66ArgfsTer97
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.608_609delCT
  hgvsp: ENSP00000416847.2:p.Pro203ArgfsTer97
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.480_481delCT
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7754
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19833
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4021
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12143
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro458ArgfsTer97
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: CAG
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

3-47462233-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462233
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462233
    reference: chr 3
allele count: 1
allele frequency: 8.388135820695209e-6
allele num: 119216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.198T>C
  hgvsp: ENST00000545718.1:c.198T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.609T>C
  hgvsp: ENST00000441517.2:c.609T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.481T>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*218T>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1374T>C
  hgvsp: ENST00000265565.5:c.1374T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*91T>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.465T>C
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4888
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3613
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro458Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

3-47462244-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462244
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462244
    reference: chr 3
allele count: 1
allele frequency: 8.399408681628814e-6
allele num: 119056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*80C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.454C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1363C>T
  hgvsp: ENSP00000265565.5:p.Arg455Ter
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.470C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.598C>T
  hgvsp: ENSP00000416847.2:p.Arg200Ter
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.187C>T
  hgvsp: ENSP00000438956.1:p.Arg63Ter
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*207C>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12105
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg455Ter
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD

3-47462260-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462260
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462260
    reference: chr 3
allele count: 2
allele frequency: 1.682651859330305e-5
allele num: 118860
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1347A>G
  hgvsp: ENST00000265565.5:c.1347A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.171A>G
  hgvsp: ENST00000545718.1:c.171A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.454A>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*64A>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*191A>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.582A>G
  hgvsp: ENST00000441517.2:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.438A>G
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1347A>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

3-47462270-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462270
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462270
    reference: chr 3
allele count: 1
allele frequency: 8.424315945545221e-6
allele num: 118704
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1345-8C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.169-8C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*189-8C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*62-8C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.436-8C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.580-8C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.452-8C>G
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4696
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18209
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1345-8C>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

3-47462272-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462272
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462272
    reference: chr 3
allele count: 1
allele frequency: 8.429428821903027e-6
allele num: 118632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.452-10C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.169-10C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*189-10C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.436-10C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1345-10C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.580-10C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*62-10C>G
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7485
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/3-47462282-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462282
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462282
    reference: chr 3
allele count: 1
allele frequency: 8.43981567442567e-6
allele num: 118486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.580-20G>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.436-20G>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.452-20G>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.169-20G>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1345-20G>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*189-20G>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*62-20G>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11727
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12034
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3292
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

3-47462292-GTCCACCATCCAGAGGCTGCTCGCACAGGAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462292
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462262
    reference: chr 3
allele count: 1
allele frequency: 8.439530762089629e-6
allele num: 118490
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4393
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: GTCCACCATCCAGAGGCTGCTCGCACAGGAC
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-47462295-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462295
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462295
    reference: chr 3
allele count: 5
allele frequency: 4.223115645798845e-5
allele num: 118396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.580-33G>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.169-33G>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1345-33G>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*189-33G>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.452-33G>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.436-33G>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*62-33G>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13055
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10754
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12004
  bin: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

3-47462301-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462301
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462301
    reference: chr 3
allele count: 1
allele frequency: 8.452942469273554e-6
allele num: 118302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.580-39G>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.169-39G>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*62-39G>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.436-39G>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*189-39G>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.452-39G>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1345-39G>C
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10360
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff

3-47462313-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462313
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462313
    reference: chr 3
allele count: 3
allele frequency: 2.549242874866165e-5
allele num: 117682
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1345-51G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.169-51G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.436-51G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*189-51G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.580-51G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.452-51G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*62-51G>A
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3691
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

3-47462314-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462314
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462314
    reference: chr 3
allele count: 1
allele frequency: 8.485794779539051e-6
allele num: 117844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.580-52C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.452-52C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1345-52C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.169-52C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*189-52C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*62-52C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.436-52C>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5348
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum

3-47462370-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462370
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462370
    reference: chr 3
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.451+51C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1344+51C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*61+51C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.579+51C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.435+51C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*188+51C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.168+51C>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7675
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

3-47462386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462386
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462386
    reference: chr 3
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.168+35C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1344+35C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*61+35C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.579+35C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.451+35C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*188+35C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.435+35C>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17296
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

3-47462386-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462386
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462386
    reference: chr 3
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.435+35C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.579+35C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.168+35C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1344+35C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*188+35C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*61+35C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.451+35C>G
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17296
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff

3-47462391-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462391
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462391
    reference: chr 3
allele count: 3
allele frequency: 2.481266438390154e-5
allele num: 120906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.579+30G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.168+30G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1344+30G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.435+30G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*188+30G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*61+30G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.451+30G>A
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4570
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

3-47462394-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462394
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462394
    reference: chr 3
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1344+27C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.168+27C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.451+27C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*188+27C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*61+27C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.579+27C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.435+27C>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

3-47462400-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462400
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462400
    reference: chr 3
allele count: 4
allele frequency: 3.305566574110803e-5
allele num: 121008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.435+21G>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.451+21G>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*61+21G>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*188+21G>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1344+21G>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.579+21G>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.168+21G>C
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3804
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

3-47462404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462404
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462404
    reference: chr 3
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*188+17C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.435+17C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.579+17C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*61+17C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1344+17C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.168+17C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.451+17C>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17294
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

3-47462409-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462409
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462409
    reference: chr 3
allele count: 2
allele frequency: 1.651664051531918e-5
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1344+12C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.435+12C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*188+12C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.579+12C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.451+12C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.168+12C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*61+12C>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18466
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7201
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

3-47462409-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462409
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462409
    reference: chr 3
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.579+12C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.435+12C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1344+12C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.168+12C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*188+12C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*61+12C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.451+12C>G
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17294
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18466
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

3-47462429-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462429
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462429
    reference: chr 3
allele count: 6
allele frequency: 4.951802456094018e-5
allele num: 121168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.160C>T
  hgvsp: ENSP00000438956.1:p.Arg54Trp
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1336C>T
  hgvsp: ENSP00000265565.5:p.Arg446Trp
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*180C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.571C>T
  hgvsp: ENSP00000416847.2:p.Arg191Trp
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.427C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.443C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*53C>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg446Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

3-47462430-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462430
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462430
    reference: chr 3
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.442C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.570C>T
  hgvsp: ENST00000441517.2:c.570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1335C>T
  hgvsp: ENST00000265565.5:c.1335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.426C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.159C>T
  hgvsp: ENST00000545718.1:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*179C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*52C>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17290
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4570
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18809
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg445Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-47462432-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462432
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462432
    reference: chr 3
allele count: 2
allele frequency: 1.650219479190732e-5
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*50C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.440C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1333C>T
  hgvsp: ENSP00000265565.5:p.Arg445Cys
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.157C>T
  hgvsp: ENSP00000438956.1:p.Arg53Cys
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*177C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.568C>T
  hgvsp: ENSP00000416847.2:p.Arg190Cys
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.424C>T
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17289
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg445Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

3-47462450-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462450
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462450
    reference: chr 3
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.139G>A
  hgvsp: ENSP00000438956.1:p.Val47Ile
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1315G>A
  hgvsp: ENSP00000265565.5:p.Val439Ile
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.422G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.*32G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.550G>A
  hgvsp: ENSP00000416847.2:p.Val184Ile
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.406G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*159G>A
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val439Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

3-47462499-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462499
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462499
    reference: chr 3
allele count: 8
allele frequency: 6.600115502021286e-5
allele num: 121210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.357C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.481C>T
  hgvsp: ENSP00000324296.6:p.Arg161Cys
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.90C>T
  hgvsp: ENST00000545718.1:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.501C>T
  hgvsp: ENST00000441517.2:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*110C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.373C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1266C>T
  hgvsp: ENST00000265565.5:c.1266C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3808
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg161Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-47462504-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462504
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462502
    reference: chr 3
allele count: 2
allele frequency: 1.650273945474949e-5
allele num: 121192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.83_84delTT
  hgvsp: ENSP00000438956.1:p.Phe28CysfsTer8
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.474_475delTT
  hgvsp: ENSP00000324296.6:p.Cys159LeufsTer29
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.366_367delTT
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1259_1260delTT
  hgvsp: ENSP00000265565.5:p.Phe420CysfsTer8
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*103_*104delTT
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.350_351delTT
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.494_495delTT
  hgvsp: ENSP00000416847.2:p.Phe165CysfsTer8
  variant of: http://identifiers.org/hgnc/30634
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe420CysfsTer8
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: CAA
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP

3-47462517-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462517
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462517
    reference: chr 3
allele count: 12
allele frequency: 9.909002328615548e-5
allele num: 121102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.339G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.72G>A
  hgvsp: ENST00000545718.1:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1248G>A
  hgvsp: ENST00000265565.5:c.1248G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.463G>A
  hgvsp: ENSP00000324296.6:p.Val155Ile
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*92G>A
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.483G>A
  hgvsp: ENST00000441517.2:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.355G>A
  variant of: http://identifiers.org/hgnc/30634
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12179
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val155Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

3-47462528-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462528
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462528
    reference: chr 3
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.70-9T>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1246-9T>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.461-9T>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*90-9T>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.353-9T>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.481-9T>C
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.328T>C
  variant of: http://identifiers.org/hgnc/30634
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3796
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ

3-47462539-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462539
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462539
    reference: chr 3
allele count: 1
allele frequency: 8.273214640280627e-6
allele num: 120872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.317C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.461-20C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1246-20C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.481-20C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.353-20C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.70-20C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*90-20C>G
  variant of: http://identifiers.org/hgnc/30634
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-47462542-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462542
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462543
    reference: chr 3
allele count: 17
allele frequency: 1.4098991507431e-4
allele num: 120576
alternate allele: TG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1246-24dupC
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.313dupC
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.353-24dupC
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.481-24dupC
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*90-24dupC
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.461-24dupC
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.70-24dupC
  variant of: http://identifiers.org/hgnc/30634
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11832
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14906
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 17257
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

3-47462542-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462542
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462541
    reference: chr 3
allele count: 7
allele frequency: 5.805467091295117e-5
allele num: 120576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*90-24delC
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1246-24delC
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.353-24delC
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.461-24delC
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.313delC
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.70-24delC
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.481-24delC
  variant of: http://identifiers.org/hgnc/30634
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14906
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: TG
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

3-47462543-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462543
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462543
    reference: chr 3
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1246-24C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.313C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.70-24C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.353-24C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*90-24C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.461-24C>G
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.481-24C>G
  variant of: http://identifiers.org/hgnc/30634
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6680
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

3-47462543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47462543
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 47462543
    reference: chr 3
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000409183
  ensembl transcript: ENST00000416208
  gene symbol: SCAP
  hgvsc: ENST00000416208.1:c.*90-24C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000324296
  ensembl transcript: ENST00000320017
  gene symbol: SCAP
  hgvsc: ENST00000320017.6:c.461-24C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000465628
  gene symbol: SCAP
  hgvsc: ENST00000465628.1:n.313C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000416847
  ensembl transcript: ENST00000441517
  gene symbol: SCAP
  hgvsc: ENST00000441517.2:c.481-24C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000438956
  ensembl transcript: ENST00000545718
  gene symbol: SCAP
  hgvsc: ENST00000545718.1:c.70-24C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl protein: ENSP00000265565
  ensembl transcript: ENST00000265565
  gene symbol: SCAP
  hgvsc: ENST00000265565.5:c.1246-24C>T
  variant of: http://identifiers.org/hgnc/30634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114650
  ensembl transcript: ENST00000468965
  gene symbol: SCAP
  hgvsc: ENST00000468965.1:n.353-24C>T
  variant of: http://identifiers.org/hgnc/30634
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14811
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16178
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6680
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 388
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 231
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9393
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.878194796223808e-5
allele num: 34744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2130
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.103662321539416e-4
allele num: 3222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6864
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.03113e5

FS
type: SiteQuality
SIO_000300: 1.0055e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.529e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

QD
type: SiteQuality
SIO_000300: 1.272e1

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11633
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 297
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7968
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.632410234810993e-5
allele num: 37988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.855e0

DP
type: SiteQuality
SIO_000300: 8.77441e5

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.825e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.038e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

FS
type: SiteQuality
SIO_000300: 1.3234e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
all individuals: 351
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20290
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7424
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.747640685075148e-4
allele num: 5722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3126
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.187e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.224e0

VQSLOD
type: SiteQuality
SIO_000300: -2.734e-1

DP
type: SiteQuality
SIO_000300: 1.0331e6

GenotypeQuality
all individuals: 1614
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4026
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.81626648261833e-5
allele num: 55058
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13742
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

DP
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

European (Non-Finnish)
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allele count: 30
allele frequency: 4.850130953535746e-4
allele num: 61854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5048
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.422607578676943e-5
allele num: 15570
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.791e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 7.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.35e0

DP
type: SiteQuality
SIO_000300: 1.403743e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559770401796856e-5
allele num: 64112
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 1.722e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.653e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

DP
type: SiteQuality
SIO_000300: 1.469492e6

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544163063619518e-5
allele num: 64760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.485e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

DP
type: SiteQuality
SIO_000300: 1.495102e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.368e0

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526204938799182e-5
allele num: 65522
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6198
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.48e-1

FS
type: SiteQuality
SIO_000300: 5.922e0

MQ
type: SiteQuality
SIO_000300: 5.867e1

QD
type: SiteQuality
SIO_000300: 1.743e1

VQSLOD
type: SiteQuality
SIO_000300: -6.505e-1

DP
type: SiteQuality
SIO_000300: 1.521382e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2380
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525087692542321e-5
allele num: 65570
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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SIO_000300: 1.522321e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.796e0

InbreedingCoeff
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.571637560574198e-5
allele num: 65622
num of homozygotes: 0

East Asian
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allele num: 8580
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
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Other
type: Population
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MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.972e0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523507724184162e-5
allele num: 65638
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
allele num: 10190
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6282
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East Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
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MQ
type: SiteQuality
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FS
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DP
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65638
num of homozygotes: 0

Latino
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African
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South Asian
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allele frequency: 1.212415130940834e-4
allele num: 16496
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65656
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
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African
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.242424242424243e-4
allele num: 16500
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 1.875e0

QD
type: SiteQuality
SIO_000300: 1.188e1

DP
type: SiteQuality
SIO_000300: 1.524178e6

MQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.04627288512505e-5
allele num: 65654
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.796238244514106e-5
allele num: 10208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.493e0

MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

DP
type: SiteQuality
SIO_000300: 1.524764e6

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

QD
type: SiteQuality
SIO_000300: 1.524e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 176
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.218360695683957e-4
allele num: 65662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

MQ
type: SiteQuality
SIO_000300: 5.839e1

DP
type: SiteQuality
SIO_000300: 1.525518e6

QD
type: SiteQuality
SIO_000300: 1.17e1

FS
type: SiteQuality
SIO_000300: 5.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.435e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.465e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.997900629811056e-4
allele num: 8574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.341e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.414e0

MQRankSum
type: SiteQuality
SIO_000300: 5.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.933e1

QD
type: SiteQuality
SIO_000300: 1.05e1

DP
type: SiteQuality
SIO_000300: 1.522692e6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3410
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7658
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.522465e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.61e-1

FS
type: SiteQuality
SIO_000300: 1.966e0

QD
type: SiteQuality
SIO_000300: 1.192e1

MQRankSum
type: SiteQuality
SIO_000300: -4.87e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 8.37e-1

GenotypeQuality
all individuals: 1113
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 916
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2150
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3413
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

QD
type: SiteQuality
SIO_000300: 5.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

DP
type: SiteQuality
SIO_000300: 1.521826e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.409e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2155
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.047944161662958e-5
allele num: 65618
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 1.521093e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e-1

FS
type: SiteQuality
SIO_000300: 5.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-2

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 9.93e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65506
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.570210544631982e-4
allele num: 11494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.272e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.24e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.523504e6

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65590
num of homozygotes: 0

East Asian
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allele num: 8576
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South Asian
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allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.524177e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.396e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1022
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65736
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
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Latino
type: Population
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allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.417e1

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.036e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.560773e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

GenotypeQuality
all individuals: 220
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 13

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 2537
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.606882168925965e-4
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.368529894775257e-4
allele num: 65764
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.55e-1

DP
type: SiteQuality
SIO_000300: 1.563475e6

QD
type: SiteQuality
SIO_000300: 1.331e1

GenotypeQuality
all individuals: 855
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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: 10236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520172691617768e-5
allele num: 65782
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.334e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

QD
type: SiteQuality
SIO_000300: 8.92e0

VQSLOD
type: SiteQuality
SIO_000300: -7.1e-3

DP
type: SiteQuality
SIO_000300: 1.563879e6

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 2828
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36993
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.039698461912578e-5
allele num: 65796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.56455e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.488e0

QD
type: SiteQuality
SIO_000300: 2.142e1

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36904
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variant carriers: 0

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

GenotypeQuality
all individuals: 1024
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.560656734569778e-5
allele num: 65780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.054e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 2.642e1

VQSLOD
type: SiteQuality
SIO_000300: -1.073e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.564358e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.109e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.54e-1

GenotypeQuality
all individuals: 74
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 122
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variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 3567
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GenotypeQuality
all individuals: 36832
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variant carriers: 0

GenotypeQuality
all individuals: 257
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variant carriers: 0

GenotypeQuality
all individuals: 216
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variant carriers: 0

GenotypeQuality
all individuals: 158
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variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520218911523259e-5
allele num: 65780
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.564331e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.319e0

MQ
type: SiteQuality
SIO_000300: 5.9e1

FS
type: SiteQuality
SIO_000300: 1.192e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.522e1

GenotypeQuality
all individuals: 222
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 126
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variant carriers: 0

GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 959
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variant carriers: 0

GenotypeQuality
all individuals: 180
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variant carriers: 0

GenotypeQuality
all individuals: 207
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variant carriers: 0

GenotypeQuality
all individuals: 2836
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2547
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520357588104722e-5
allele num: 65774
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.564485e6

MQ
type: SiteQuality
SIO_000300: 5.886e1

VQSLOD
type: SiteQuality
SIO_000300: -8.905e-1

FS
type: SiteQuality
SIO_000300: 3.737e0

QD
type: SiteQuality
SIO_000300: 1.157e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.35e-1

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3023
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variant carriers: 0

GenotypeQuality
all individuals: 36792
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52031135976648e-5
allele num: 65776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.632e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.564745e6

VQSLOD
type: SiteQuality
SIO_000300: -2.303e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

MQ
type: SiteQuality
SIO_000300: 5.885e1

QD
type: SiteQuality
SIO_000300: 1.148e1

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2877
bin: 9.75e1
variant carriers: 36

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 4.71181906614786e-4
allele num: 65792
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.346314325452017e-4
allele num: 11504
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.553760099440646e-4
allele num: 6436
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.566989e6

QD
type: SiteQuality
SIO_000300: 1.276e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

FS
type: SiteQuality
SIO_000300: 1.094e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
all individuals: 254
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2877
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 194
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.214034235765449e-4
allele num: 16474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519987840097279e-5
allele num: 65790
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

FS
type: SiteQuality
SIO_000300: 1.914e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

QD
type: SiteQuality
SIO_000300: 1.581e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-2

DP
type: SiteQuality
SIO_000300: 1.566959e6

GenotypeQuality
all individuals: 697
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 112
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GenotypeQuality
all individuals: 175
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GenotypeQuality
all individuals: 34
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 243
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GenotypeQuality
all individuals: 1024
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GenotypeQuality
all individuals: 2881
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.561488869967157e-5
allele num: 65768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 1.567759e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

QD
type: SiteQuality
SIO_000300: 1.268e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.775e0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 36

GenotypeQuality
all individuals: 160
bin: 5.75e1
variant carriers: 160

GenotypeQuality
all individuals: 373
bin: 6.25e1
variant carriers: 302

GenotypeQuality
all individuals: 128
bin: 4.25e1
variant carriers: 128

GenotypeQuality
all individuals: 283
bin: 5.25e1
variant carriers: 283

GenotypeQuality
all individuals: 215
bin: 3.75e1
variant carriers: 214

GenotypeQuality
all individuals: 240
bin: 4.75e1
variant carriers: 238

GenotypeQuality
all individuals: 329
bin: 7.75e1
variant carriers: 324

GenotypeQuality
all individuals: 372
bin: 8.25e1
variant carriers: 365

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 53

GenotypeQuality
all individuals: 272
bin: 8.75e1
variant carriers: 270

Latino
type: Population
allele count: 11443
allele frequency: 9.934884528563986e-1
allele num: 11518
num of homozygotes: 5684

East Asian
type: Population
allele count: 8592
allele frequency: 1.0e0
allele num: 8592
num of homozygotes: 4296

South Asian
type: Population
allele count: 16474
allele frequency: 1.0e0
allele num: 16474
num of homozygotes: 8237

European (Finnish)
type: Population
allele count: 6510
allele frequency: 1.0e0
allele num: 6510
num of homozygotes: 3255

African
type: Population
allele count: 8823
allele frequency: 8.599415204678362e-1
allele num: 10260
num of homozygotes: 3803

European (Non-Finnish)
type: Population
allele count: 65997
allele frequency: 9.987137193184226e-1
allele num: 66082
num of homozygotes: 32956

Other
type: Population
allele count: 887
allele frequency: 9.921700223713646e-1
allele num: 894
num of homozygotes: 441

DP
type: SiteQuality
SIO_000300: 4.655153e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

VQSLOD
type: SiteQuality
SIO_000300: 4.03e0

FS
type: SiteQuality
SIO_000300: 1.107e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.212e-1

QD
type: SiteQuality
SIO_000300: 3.456e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

GenotypeQuality
all individuals: 8318
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4051
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
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variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3675
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4961
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.700191404210893e-5
allele num: 11494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.51123595505618e-4
allele num: 8544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.41e-1

QD
type: SiteQuality
SIO_000300: 1.107e1

FS
type: SiteQuality
SIO_000300: 1.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.82e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 2.054494e6

VQSLOD
type: SiteQuality
SIO_000300: 9.48e-1

GenotypeQuality
all individuals: 282
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 217
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variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 4956
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variant carriers: 0

GenotypeQuality
all individuals: 19972
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variant carriers: 0

GenotypeQuality
all individuals: 4054
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variant carriers: 0

GenotypeQuality
all individuals: 3674
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variant carriers: 0

GenotypeQuality
all individuals: 8294
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variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65696
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.70170553428472e-5
allele num: 11492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.65e0

VQSLOD
type: SiteQuality
SIO_000300: 3.97e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.436e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.03e-1

FS
type: SiteQuality
SIO_000300: 2.015e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

DP
type: SiteQuality
SIO_000300: 2.052083e6

GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19974
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 2020
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variant carriers: 0

GenotypeQuality
all individuals: 214
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variant carriers: 0

GenotypeQuality
all individuals: 4047
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2875
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8291
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523925632429137e-5
allele num: 65620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.485e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

QD
type: SiteQuality
SIO_000300: 1.473e1

DP
type: SiteQuality
SIO_000300: 2.047315e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.947e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

GenotypeQuality
all individuals: 265
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8270
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 3660
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variant carriers: 0

GenotypeQuality
all individuals: 2871
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19910
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 4047
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.084205402774397e-5
allele num: 16436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65602
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.284e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.54e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 2.045864e6

GenotypeQuality
all individuals: 373
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4903
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
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variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 2865
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1182
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variant carriers: 0

GenotypeQuality
all individuals: 8168
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variant carriers: 0

GenotypeQuality
all individuals: 19897
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variant carriers: 0

GenotypeQuality
all individuals: 4022
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526624328285296e-5
allele num: 65504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.504e0

DP
type: SiteQuality
SIO_000300: 2.039602e6

VQSLOD
type: SiteQuality
SIO_000300: -2.314e0

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

FS
type: SiteQuality
SIO_000300: 1.6572e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

GenotypeQuality
all individuals: 2005
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8160
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variant carriers: 0

GenotypeQuality
all individuals: 1200
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variant carriers: 0

GenotypeQuality
all individuals: 3617
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2864
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4894
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variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526484506182262e-5
allele num: 65510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.03831e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

MQ
type: SiteQuality
SIO_000300: 5.933e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 1.975e1

FS
type: SiteQuality
SIO_000300: 3.547e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.451e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 103
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8142
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
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GenotypeQuality
all individuals: 145
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GenotypeQuality
all individuals: 251
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GenotypeQuality
all individuals: 1205
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variant carriers: 0

GenotypeQuality
all individuals: 87
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GenotypeQuality
all individuals: 4018
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12135
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2005
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526904049349539e-5
allele num: 65492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.210000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.906e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.484e0

QD
type: SiteQuality
SIO_000300: 1.357e1

VQSLOD
type: SiteQuality
SIO_000300: -1.934e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.069e0

MQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

DP
type: SiteQuality
SIO_000300: 2.037677e6

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 19517
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 2.25e1
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GenotypeQuality
all individuals: 3566
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
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GenotypeQuality
all individuals: 4842
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variant carriers: 0

GenotypeQuality
all individuals: 482
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variant carriers: 0

GenotypeQuality
all individuals: 182
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variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
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variant carriers: 0

GenotypeQuality
all individuals: 8004
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.149305128520478e-5
allele num: 16262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.429e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.027475e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.422e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

QD
type: SiteQuality
SIO_000300: 1.353e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

VQSLOD
type: SiteQuality
SIO_000300: -5.64e-2

GenotypeQuality
all individuals: 110
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19135
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 201
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4759
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3967
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529192280637367e-5
allele num: 65394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.916699722332408e-5
allele num: 10084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.38e-1

FS
type: SiteQuality
SIO_000300: 7.09e-1

DP
type: SiteQuality
SIO_000300: 2.010718e6

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.357e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

GenotypeQuality
all individuals: 7521
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variant carriers: 0

GenotypeQuality
all individuals: 2830
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3445
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variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530409231428484e-5
allele num: 65342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16104
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.8e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 7.66e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

FS
type: SiteQuality
SIO_000300: 5.603e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.837e0

DP
type: SiteQuality
SIO_000300: 1.994332e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.302e0

GenotypeQuality
all individuals: 4657
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1979
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GenotypeQuality
all individuals: 12044
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variant carriers: 1

GenotypeQuality
all individuals: 3920
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GenotypeQuality
all individuals: 2820
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531018433461939e-5
allele num: 65316
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

DP
type: SiteQuality
SIO_000300: 1.991825e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 3.287e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.07e0

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.39e-1

QD
type: SiteQuality
SIO_000300: 1.069e1

GenotypeQuality
all individuals: 1130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16577
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4540
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 494
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GenotypeQuality
all individuals: 120
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variant carriers: 0

GenotypeQuality
all individuals: 442
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variant carriers: 0

GenotypeQuality
all individuals: 3859
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variant carriers: 0

GenotypeQuality
all individuals: 2797
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65270
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.751969193068441e-5
allele num: 11426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 9.25e0

FS
type: SiteQuality
SIO_000300: 1.447e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.156e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.674e0

MQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

DP
type: SiteQuality
SIO_000300: 1.965475e6

VQSLOD
type: SiteQuality
SIO_000300: -3.397e-1

GenotypeQuality
all individuals: 198
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1365
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variant carriers: 0

GenotypeQuality
all individuals: 6753
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variant carriers: 0

GenotypeQuality
all individuals: 633
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 12010
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variant carriers: 1

GenotypeQuality
all individuals: 2769
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variant carriers: 0

GenotypeQuality
all individuals: 1959
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531581204435459e-5
allele num: 65292
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: 6342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.55e0

MQRankSum
type: SiteQuality
SIO_000300: -3.402e0

DP
type: SiteQuality
SIO_000300: 1.938527e6

FS
type: SiteQuality
SIO_000300: 7.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

VQSLOD
type: SiteQuality
SIO_000300: -9.79e-1

MQ
type: SiteQuality
SIO_000300: 5.396e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.283e0

GenotypeQuality
all individuals: 1892
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 589
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variant carriers: 0

GenotypeQuality
all individuals: 131
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variant carriers: 0

GenotypeQuality
all individuals: 1636
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GenotypeQuality
all individuals: 3740
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variant carriers: 0

GenotypeQuality
all individuals: 15231
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GenotypeQuality
all individuals: 2765
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variant carriers: 0

GenotypeQuality
all individuals: 713
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variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.660721946436233e-5
allele num: 65268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15900
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 2.031e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.826e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

DP
type: SiteQuality
SIO_000300: 1.931298e6

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.476e0

QD
type: SiteQuality
SIO_000300: 2.274e1

GenotypeQuality
all individuals: 2757
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11992
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variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 12842
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 239
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GenotypeQuality
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GenotypeQuality
all individuals: 3001
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variant carriers: 0

GenotypeQuality
all individuals: 6272
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533319022355791e-5
allele num: 65218
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

QD
type: SiteQuality
SIO_000300: 1.553e1

DP
type: SiteQuality
SIO_000300: 1.912726e6

FS
type: SiteQuality
SIO_000300: 1.705e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 185
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1967
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variant carriers: 0

GenotypeQuality
all individuals: 2562
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1942
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11990
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.351834430856068e-4
allele num: 8504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540499738115044e-5
allele num: 64914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 5.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 1.604e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.91e-1

DP
type: SiteQuality
SIO_000300: 1.897238e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 78
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 466
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variant carriers: 0

GenotypeQuality
all individuals: 3110
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GenotypeQuality
all individuals: 11992
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1947
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538556218844237e-5
allele num: 64996
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15684
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.59e-1

QD
type: SiteQuality
SIO_000300: 1.124e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.322e0

DP
type: SiteQuality
SIO_000300: 1.89908e6

FS
type: SiteQuality
SIO_000300: 2.276e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

GenotypeQuality
all individuals: 14239
bin: 6.25e1
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GenotypeQuality
all individuals: 427
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GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 700
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GenotypeQuality
all individuals: 4758
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GenotypeQuality
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GenotypeQuality
all individuals: 3934
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 7096
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variant carriers: 0

GenotypeQuality
all individuals: 3115
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506114826194349e-5
allele num: 66396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.582e0

VQSLOD
type: SiteQuality
SIO_000300: 8.06e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

DP
type: SiteQuality
SIO_000300: 2.171574e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.004e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.73e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4601
bin: 7.75e1
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GenotypeQuality
all individuals: 7073
bin: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

FS
type: SiteQuality
SIO_000300: 1.982e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.236e0

QD
type: SiteQuality
SIO_000300: 1.496e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

DP
type: SiteQuality
SIO_000300: 2.18169e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3085
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

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

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

African
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allele count: 1
allele frequency: 9.665571235260003e-5
allele num: 10346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.236e0

DP
type: SiteQuality
SIO_000300: 2.18169e6

FS
type: SiteQuality
SIO_000300: 1.982e0

QD
type: SiteQuality
SIO_000300: 1.496e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 227
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variant carriers: 0

GenotypeQuality
all individuals: 3805
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
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: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011141222523336e-5
allele num: 66420
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.395e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e0

MQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.936e0

DP
type: SiteQuality
SIO_000300: 2.185222e6

QD
type: SiteQuality
SIO_000300: 1.345e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 158
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variant carriers: 0

GenotypeQuality
all individuals: 4587
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.320000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.565e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.187059e6

QD
type: SiteQuality
SIO_000300: 1.198e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18100
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 17297
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3077
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variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.425712553062462e-4
allele num: 16490
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

FS
type: SiteQuality
SIO_000300: 5.767e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.81e-1

QD
type: SiteQuality
SIO_000300: 1.141e1

DP
type: SiteQuality
SIO_000300: 2.190931e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 137
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variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503895088278642e-5
allele num: 66494
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.671e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 2.192374e6

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.434e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006343384541382e-5
allele num: 66526
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 7.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.437e1

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.47e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 2.193869e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2123
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.193869e6

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.38e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4572
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variant carriers: 0

GenotypeQuality
all individuals: 3081
bin: 9.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.22e1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.87e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 3812
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GenotypeQuality
all individuals: 143
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

East Asian
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allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

South Asian
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allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

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

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10376
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.387e0

DP
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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ClippingRankSum
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SIO_000300: -1.656e0

BaseQRankSum
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SIO_000300: -2.067e0

QD
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SIO_000300: 8.1e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

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

European (Non-Finnish)
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allele frequency: 1.200876639947161e-4
allele num: 66618
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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DP
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FS
type: SiteQuality
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QD
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ClippingRankSum
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SIO_000300: -5.14e-1

MQRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002642325246217e-5
allele num: 66608
num of homozygotes: 0

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

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

BaseQRankSum
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SIO_000300: 1.25e0

InbreedingCoeff
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SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.557e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.77e-1

MQ
type: SiteQuality
SIO_000300: 6.041e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.853e0

DP
type: SiteQuality
SIO_000300: 2.19789e6

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

Other
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allele 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: 6612
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 12
allele frequency: 1.802884615384615e-4
allele num: 66560
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.979e0

InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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MQRankSum
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ReadPosRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
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allele num: 11534
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

ReadPosRankSum
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VQSLOD
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BaseQRankSum
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QD
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FS
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
type: SiteQuality
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
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allele num: 11514
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

MQRankSum
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QD
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DP
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 900
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East Asian
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European (Finnish)
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African
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Latino
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South Asian
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European (Non-Finnish)
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allele frequency: 1.509844184080203e-4
allele num: 66232
num of homozygotes: 0

ReadPosRankSum
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MQ
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MQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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DP
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

South Asian
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allele num: 16452
num of homozygotes: 0

Latino
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African
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allele frequency: 9.754194303550527e-5
allele num: 10252
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

QD
type: SiteQuality
SIO_000300: 5.17e0

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 2.171442e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

FS
type: SiteQuality
SIO_000300: 1.817e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

GenotypeQuality
all individuals: 4448
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17248
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3744
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3293
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3052
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16178
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511898642315019e-5
allele num: 66142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.330000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.252e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.169702e6

QD
type: SiteQuality
SIO_000300: 1.239e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

GenotypeQuality
all individuals: 204
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3052
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2098
bin: 8.75e1
variant carriers: 0